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1 ASTUTE, ASSERTIVE, AND ALPHA-1: QUA NTIFYING EMPOWERMENT IN A RARE GENETIC COMMUNITY By SYMMA FINN A DISSERTATION PRESENTED TO THE GRADUATE SCHOOL OF THE UNIVERSITY OF FLOR IDA IN PARTIAL FULFILLMENT OF THE REQUIREMENTS FOR THE DEGREE OF DOCTOR OF PHILOSOPHY UNIVERSITY OF FLORIDA 2008
2 2008 Symma Finn
3 To John and Freddie Walsh; and to my beloved sons, Elijah and Sam.
4 ACKNOWLEDGMENTS I am extremely thankful that during my research I had Pete r Collings as my mentor, and the scientific oversight and guidance of Charlie Strange. My work also benefitted immensely from many years of interaction and friendshi p, with Mark Brantly, John and Freddie Walsh, Gordon Snider and Sally Everett, Rick Si fers, David Lomas, Sandy Sandhaus, Lynn Oveson, Janis Berend, Patti Brown, Cathy Horsak, Joe Reidy, and Marta Strock. I am grateful for the anthropological oversig ht provided by Peter Collings, Willie Baber, and Elizabeth Guillette. I learned many important lessons about applied anthropology, and the value of situating my work within theoretical frames in anthropology. Thanks also go to Lou Guillette for asking hard questions, and for help ing me to understand how to bridge the gap between the scientific and soci al approaches to knowledge. I also acknowledge the passing of two of the study participants. One was a kind, intelligent, articulate man in his early forties who had been a key informant and friend; the other was a woman who had struggled to breathe throughout our session, but who never stopped smiling, never gave up hope.
5 TABLE OF CONTENTS page ACKNOWLEDGMENTS...............................................................................................................4 LIST OF TABLES................................................................................................................. ..........8 LIST OF FIGURES.........................................................................................................................9 ABSTRACT...................................................................................................................................10 CHAP TER 1 EMPOWERMENT IN THE MEDICAL DOMAIN.............................................................. 12 Finding an Appropriate Model............................................................................................... 12 Defining Empowerment.................................................................................................. 14 Examining the Basic Premise.......................................................................................... 15 Development of Research Questions............................................................................... 25 Validity of Choosing the Alpha-1 Community............................................................... 28 Summary of Research............................................................................................................ .31 2 ETHNOGRAPHY OF THE ALPHA-1 COMMUNITY........................................................ 38 What is Alpha-1 Antitrypsin Deficiency?..............................................................................38 Biomedical Descriptions................................................................................................. 40 Psychosocial Aspects....................................................................................................... 45 Anthropological Approach..............................................................................................48 Locations and Enactments of Alpha-1.................................................................................... 49 Path to Diagnosis and Treatment..................................................................................... 50 Research Setting.............................................................................................................. 57 Laboratory culture.................................................................................................... 60 Scientific procedures................................................................................................ 63 The Alpha-1 Community........................................................................................................67 Alpha-1 Organizations: Mode ls of Entrepreneurship ......................................................68 Research Network...........................................................................................................69 Public Policy....................................................................................................................73 Vision for the Future....................................................................................................... 74 Anthropological Research in the Community.................................................................76 Access: Hiring-In and Participant Observation............................................................... 80
6 3 THEORETICAL FRAMEWORK..........................................................................................86 Introduction................................................................................................................... ..........86 Contextualizing Empowerment.............................................................................................. 87 Social Conditions.............................................................................................................87 Anthropological Considerations......................................................................................91 Linguistic Theories.......................................................................................................... 93 Language use in the community............................................................................. 102 Communicative competence.................................................................................. 104 Discussion.............................................................................................................................106 4 ANALYSIS OF COMMUNITY INPUT.............................................................................. 108 Introduction................................................................................................................... ........108 Sample...........................................................................................................................108 Methods.........................................................................................................................109 Narrative Analysis............................................................................................................. ...113 Codebook Development: Identifying Core Elements of Empowerment.............................. 115 Disease Etiology............................................................................................................115 Diagnosis...................................................................................................................... .116 Therapies.......................................................................................................................117 Transplantation..............................................................................................................118 Forms of Patient Empowerment.................................................................................... 119 Information and awareness..................................................................................... 120 Networks and relations...........................................................................................121 Cost of illness.........................................................................................................123 Discussion.............................................................................................................................124 5 LINGUISTIC ANALYSIS OF MEDICAL ENCOUNTERS.............................................. 127 Language in the Medical Domain......................................................................................... 127 Fieldwork in Medical Offices........................................................................................129 Medical and Social Context of the Office Visit............................................................ 137 Physician Interview....................................................................................................... 138 Results...................................................................................................................................142 Ethnography of Speaking Analysis............................................................................... 142 Discussion..................................................................................................................... .144
7 6 STATISTICAL ANALYSIS................................................................................................147 Unpacking Empowerment into Definable Components....................................................... 147 Identifying Appropriate Measurement Tools................................................................ 148 Quantifying Empowerment........................................................................................... 151 Sample...........................................................................................................................155 Methods................................................................................................................................157 Demographic Variables................................................................................................. 157 Investigational Variables...............................................................................................159 Awareness..............................................................................................................159 Organizational membership................................................................................... 161 Participation in research.........................................................................................162 Advocacy................................................................................................................163 Organizational leadership.......................................................................................163 Membership in a supra-organization...................................................................... 163 Scoring Rubric........................................................................................................ 164 Statistical Analysis........................................................................................................... .....165 Results........................................................................................................................ ...166 Discussion..................................................................................................................... .168 7 EMPOWERMENT IS SIMPLE, EMPOWERMENT IS COMPLEX................................. 182 Key Elements in Empowerment........................................................................................... 182 Rarity and Genetics....................................................................................................... 182 Socio-Political Context..................................................................................................187 Maintaining a Traditional Hegemony...........................................................................189 Future Research....................................................................................................................192 Reevaluating the Statistical Approach...........................................................................194 Measuring Disability: Assessing Methodologies.......................................................... 195 Overarching Themes in Empowerment................................................................................ 197 Lessons from the Alpha-1 Community......................................................................... 199 Recommendations......................................................................................................... 200 APPENDIX A SAMPLE QUESTIONS 2006 INTERVIEW S AND FOCUS GROUP SESSIONs ............ 207 Semi-Structured Interviews with Physicians and Researchers............................................. 207 Focus Group Sessions with Alphas...................................................................................... 209 B SAMPLE QUESTIONS 2007 INTERVIEWS..................................................................... 211 LIST OF REFERENCES.............................................................................................................213 BIOGRAPHICAL SKETCH.......................................................................................................243
8 LIST OF TABLES Table page 1-1 Stakeholders in the Alpha-1 community............................................................................ 35 4-1 Codebook development: identifying narrative themes.................................................... 126 6-1 Structure of knowledge dimensions................................................................................. 171 6-2 Descriptive statistics of dem ographic characteristics...................................................... 172 6-3 Frequency distribution of six of seven content specific scores ........................................ 172 6-4 Levels of awarene ss frequency distributions ...................................................................172 6-5 Total empowerment scores for nine dom ains of empowerment...................................... 173 6-6 Descriptive statistics of total em powerment scores......................................................... 173 7-1 Thematic assessment of medi a reports on science and m edicine.................................... 202
9 LIST OF FIGURES Figure page 1-1 Network relations in the Alpha-1 community................................................................... 34 1-2 Personal and structural em powerment as a unidimensional scale..................................... 37 2-1 Alpha-1 Research Registry enrollment by year................................................................. 84 2-2 Source of Research Regist ry applications since 2000 ....................................................... 85 5-1 Where worlds collide: the offi ce visit as tip of the iceberg ............................................. 138 6-1 Bivariate fit of total empowerme nt score by years since diagnosis .................................174 6-2 Years since diagnosis by levels of awareness .................................................................. 175 6-3 Total empowerment score by awareness......................................................................... 176 6-4 Total empowerment score by organizational leadership................................................. 177 6-5 Total empowerment score by type diagnosis................................................................... 178 6-6 Alpha network by years since diagnosis..........................................................................179 6-7 Years since diagnosis by participation in research .......................................................... 180 6-8 Scree plot of princi pal components analysis .................................................................... 181 7-1 Empowerment is disease management............................................................................ 205 7-2 The process of empowerment.......................................................................................... 206
10 Abstract of Dissertation Pres ented to the Graduate School of the University of Florida in Partial Fulfillment of the Requirements for the Degree of Doctor of Philosophy ASTUTE, ASSERTIVE, AND ALPHA-1: QUA NTIFYING EMPOWERMENT IN A RARE GENETIC COMMUNITY By Symma Finn December 2008 Chair: Peter Collings Major: Anthropology We investigated empowerment in the Al pha-1 Antitrypsin Deficiency (Alpha-1) community, a rare, genetic disease network in th e United States. The research was motivated by nine years of observations in th e community. After observing what seemed to be a heightened amount of activism among Alpha-1 community members, I had hypothesized that this community represents a model of empowerment, and designed a study to define and quantify empowerment from a community-based perspective. Fieldwork was conducted from 2006 to 2008 to obtain the communitys definition of empowerment. Focus group sessions and semi-struc tured interviews were held to elucidate specific domains of patient empowerment. The data from the interviews and focus group sessions was analyzed, and a codebook was deve loped of the primary themes. These themes were used to build a theoretical model of empowerment, and to develop research questions about the relations of the various domains in the cons truction of empowerment. Da ta from office visits and physician-nurse interviews were analyzed using an ethnography-of-speaking approach towards understanding the hegemony, or balanc e of power, between physician and patient.
11 Patient data was analyzed statistically to quantify the relations between components of empowerment. The study confirmed the validity of a model of empowerment in the Alpha-1 community as a Guttman-like scale (Guttma n, 1950). For, the components of empowerment identified in the community can be seen as a series of activities, and states of awareness, that evolved from simple to complex. Statistical analysis also confirmed hypothesized, and significant, relations between specific components of empowerment. However, the study did not demonstrate that empowerment indicated a loss of medical author ity; rather empowerment was mastery of the language and knowledge of the medical dom ain. And, although, core components of empowerment are consistent among a range of Al phas, empowerment is best characterized as variable, even among this stable, closed population. The study results could prove relevant to othe r types of patients, as core components of empowerment defined in the study are not unique to the Alpha-1 community. This includes the value of family support and networking, the im portance of a community identity, and the positive impact an effective infrastructure provides.
12 CHAPTER 1 EMPOWERMENT IN THE MEDICAL DOMAIN Finding an Appropriate Model The aim of this study was to define and qua ntify patient empowerment in the Alpha-1 Antitrypsin Deficiency (Alpha-1) community, a rare disease network in the United States. Alpha1 is a rare, genetic condition discovered in 1963, in Sweden, in patients with the lung disease emphysema (Laurell and Eriksson, 1963). Subsequent research in the Un ited States led to a discovery of an association between Alpha-1 and liver disease (Sharp et al., 1969). This genetic condition can lead to severe live r disease in newborns, and is th e fourth leading cause of liver transplantation in children in the United Stat es (Teckman, 2005). However, the majority of individuals with a deficiency of Alpha-1 have progressive lung di sease that generally begins to appear in the fourth decade of life (Anonymous, 2000). Individuals with Alpha-1 lung disease have increasing difficulty with breathing, may ha ve to use portable oxygen, and, eventually die of advanced lung disease after years of illness. As lung diseases are now the 6th leading cause of death worldwide, studying how patients become empowered within th e Alpha-1 community could facilitate healthcare effort s in what is fast becoming a ma jor international health problem. For, those with Alpha-1 lung disease are like the canaries that miners sent ahead of mining crews to test air quality. The canary foretold the conditions in the mines for those who followed. Highlighting empowerment within the Alpha-1 community, and the positive way individuals deal with their genetic lung disease, might also serve as the forerunner, and model, of the potential role patients can play in their own lung disease management. It is a model that may have relevance for all types of lung patients in the world, or promote efforts by any type of patient to become empowered.
13 The study arose out of my involvement in the Alpha-1 community as a paid employee, and many years of participant observa tion of various stakeholders, or members, of the community. The stakeholders include diagnosed individuals, and family memb ers, interacting through patient support groups, staff of national patient, and scie ntific, organizations, and a well defined research network consisting of research scientists, clinicians, and nursing staff (F igure 1-1, Table 1-1). Over a period of nine years, I observed what seemed to be an extraordinary amount of activism and positivism among many of the individua ls involved with the Alpha-1 community. The positive attitudes, and form s of activism I observed, were e xhibited not only by the patients, but also by caregivers and family members, and by the medical professionals associated with the community. Based on my observations, and a revi ew of the social and medical literature on empowerment, I hypothesized that this community is particularly empowered. To test this hypothesis, I developed the follo wing research questions, and a study design, that would allow me to understand empowerment and begin to measure it among community members: Research Question 1: Is patient empowerment a visible sign of a shift in the hegemonic relation between physic ians and patients? Research Question 2: Does business expertise, and orga nizational leaders participation in policy making and drug development, make these organizations, and their leaders, structurally powerful? Research Question 3: Are patients with access to resour ces in the Alpha-1 community more likely to become empowered on a personal leve l? And, what are the components of personal empowerment? Research Question 4: Do domains of empowerment form an unidimensional scale (Figure 1-2). The development of the research questions and how they were operationa lized into a research plan are described in further detail below (page 25-29).
14 Defining Empowerment Em powerment is not a new concept initial usage of the word is noted in the mid-17th century as a legal term meaning to invest with authority, authorize. A dictionary listing from the late 1970s maintains the connotation of delegation and author ization, but adds an extended meaning relating to enabling, (Funk and Wagnalls, 1978). More recent, primarily online dictionary listings define empo werment as freedom to do someth ing, or that makes you more confident and makes you feel you are in control of your life (Cambridge Advanced Learners Dictionary, 2008), give streng th and confidence to ( www.askoxford.com ), or that prom otes self-actualization (Merriam Webster Online Di ctionary Vers 10, 2008). A dictionary website that searches all web-available listings found 22 dictionaries with English definitions of empowerment including usage of the word in management, accounting, economics, computing, medicine, conflict resolution, environmental scien ce, and in technologies such as construction and material physics ( www.onelook.com ). In the m edical domain, patient empowerment has been variously defined in terms of patient autonomy, the patient as consumer, or as representing numerous possibilities for social transformation (Church et al 2002; Teff, 1994; Leps 1995, Clar ke et al., 2003, Schlesinger 2002). Patient empowerment is more recently defined on a patient advocacy website as individuals who need to: take re sponsibility, set goals, collaborate with others, gather evidence, be a smart healthcare consumer, stay safe in the healthcare environmen t, and who understand and support the tenets of patient advocacy (Torrey, 2007). However, as my study shows, empowerment may also indicate the experien ce of caregivers, physicians, researchers, organizational leaders, and ot her stakeholders associated with a disease community. Patient autonomy and patients thinking they share common attributes were observed in the Alpha-1 community. However, like the author s cited above, I consider empowerment as a
15 social process involving patients within the context of larger social relations. I, therefore, chose to move beyond a narrow focus on the patients experience, and to situ ate an understanding of empowerment within the context of the medi cal domain (in relation to patient-physician dynamics), and within a larger societal context. When examined in relation to various types of medical interactions, I agreed with Teff (1994) and Leps (1995), that patie nt empowerment may represent not only a rise in patient autonomy, but also a challenge to the traditional dominance of medical authority. I thought this an interesting research question that might prove true, and if s o, would explain why the patient empowerment I had observed in the Alpha-1 community seemed to affect patients, caregivers, and medical professionals. Testi ng this research ques tion required broadening the scope of my research to include all affected individuals in the Alpha-1 community, including newly diagnosed individuals, and expl oring other possible forms of empowerment besides patient empowerment. I emphasize the context of empowerment in the medical domain, since empowerment, as defined above, is used to characterize other forms of social change in the United States. Since the focus of my study on empowerment is on a proc ess situated within the medical domain, the definitions used throughout this study are based on the use of the term in medical settings. For this study, I define empowerment as disease ma nagement on both the personal and structural level, a condition that encomp asses both individual and comm unity-level attributes, and a condition that manifests among not only indivi duals diagnosed with a disease, but their caregivers and family members, health care team, and nationwide network of contacts. Examining the Basic Premise Em powerment in the Alpha-1 community is the premise, and basis, for my research, and led to research questions, and a study design, to de fine empowerment from an emic perspective. I
16 patterned the study design on social and medical research that successfully utilized both qualitative and quantitative anal yses (Bernard and Ryan 2005, 1998; Carey et al. 1996; Chavez et al. 1995; Clark et al. 2004; Fr ies 1983; Goodacre et al. 2007; Gottschalk 1997; Grunfeld et al. 2008; Hajiro et al. 1998; Handwerker 2003; Handwerker and Wozniak 1997; Johnson 1995; Kaufert and ONeil 1993; Ketalaars et al. 1986; Ryan and Martinez 1996; Stoller et al. 1994; Tu 2006; Weinfurt et al. 2003; Wyrwich et al 2007, 2006). Many of these studies focused on techniques for narrative analysis of interview data; however the medical literature on Quality of Life (QOL), and measuring disability, were also influential on my st udy design. For the Alpha-1 empowerment study, this combined approach mean t a qualitative assessment of empowerment, and a quantitative analysis of the relati on between components of empowerment, and demographic characteristics of the study participants. Before describing the development of my study design in more detail, I think it important to justify why I concluded the Alpha-1 comm unity, and Alphas, are empowered, and why it became the basis for my study. Early in graduate school, I asserted in a paper that the Alpha-1 community is empowered, and I was challenged, not to prove the commun ity is empowered, but, to define what I meant by empowerment. I t hought it was clear what empowerment meant, but the professor noted she was referring to an anthropological approach that unpacks complex constructs. She suggested that I quantify empowerment in the Alpha-1 co mmunity, not just state that it exists. However, my perception of empowerment did fi rst arise from nine years of participant observation. Although, my employment did not overtly include research on the community, I deliberately, and consciously, undertook to observe the interaction of the scientists with each other, with diagnosed individuals and with organizational leaders, and compared my experience
17 with previous experience of scient ists. Over time, I also began to assess aspects of the patient and caregiver experiences, and began to read literature on empowerm ent. My training, and interest, in anthropology underlay my perceptions, and led to a valid, and carefully constructed, assessment of basic dynamics in the community. To justify my evaluation, I could provide numerous examples from my years in the comm unity, and cite the many professionals who share my opinion. I could also point to the similarities between the defi nitions of empowerment in the literature, and common attributes in the Alpha-1 community. Instead, I will relate two stories that are typical, and representative, of both the personal and structural forms of empowerment and, that I think demonstrate the extent of empower ment I witnessed in this community. Instead, I will relate two stories that are typical, and repr esentative, and that I think demonstrate both the structural and personal forms of empowerment I witnessed in the Alpha -1 community. I also include a particularly pertinent quote from Dr. Groft, whose pers pective, as Director of the Office of Rare Disease Research at the National In stitutes of Health, is particularly relevant. The first example comes from my initial exposu re to the Alpha-1 community. On my first day of work with the Alpha-1 Foundation (Found ation), I was told that in a month the Foundation would be convening its fi rst scientific workshop, in Bethesda, MD, and that I would be organizing, and managing, this ev ent. I had done this type of wo rk before at the University of Miami, but it was challenging to organize people and an event, without knowing anyone. So, the first thing I did was to assemble all the scra ps of paper I was hande d about the workshop, and prepare a proper attendees list, complete with contact information, title s, and affiliations. I noticed there seemed to be equal numbers of academic researchers, government people, and industry representatives. And, not just government drones, but the heads of agencies, like the Deputy Director of the United States Food a nd Drug Administration (FDA), Jack McCormick,
18 key researchers working under him in the Cent er for Biological Evaluation and Research (CBER) and Center for Drug Ev aluation and Research (CDER), and several of the Division Directors of the National Institutes of Health (NIH), including those from the lung and liver divisions, genomic research, and office of rare disease research. The drug company representatives, according to their titles, were also individuals clearly high up in their companys chain of command. The meeting itself was a reve lation to me, and my first indication of the power of the Alpha-1 community. To understand w hy, I need to put the experience in context. After many years as an administrator in a deans office at a local unive rsity, I went to work for a newly formed, not-for-profit organiza tion, the Alpha-1 Foundation. The Foundation was established by three diagnosed individuals, and the President and CEO, John Walsh, my direct supervisor, is an Alpha with ch ronic and severe lung disease. The Foundations office is located in Coconut Grove, FL. Coconut Grove, as oppose d to downtown Miamis business district, and is known as a more casual business environment. The Foundation office was staffed, at that time, by only four other people, and although John and the CFO wore suits, the accountant wore a short sleeve shirt, and the secretary wore sandals, and very casual outfits to work. As opposed to my university experience, where the institutional structures and policies (like dress codes) are very formalized, I thought of the Foundation as a small, grass roots organization, with a visionary set of goals, but basical ly a small number of people advo cating for a very rare, genetic condition. The Foundation office was a step above sitting around a kitchen table stapling newsletters, but, at first, it di d not seem as professional, or organized, as a university or successful business operation. My impression of a small organization flew out the window the minute I arrived at the hotel for the workshop. It was a four-star hote l, and our accommodations for the meeting were
19 luxurious. My boss, John Walsh, had told me ahead of time to dress in a suit, and, when the invitees arrived for the workshop, all of them were similarly dressed in formal business attire the men in suits and ties, the women in dresses, or suits, and high heeled shoes. The workshop itself was conducted in a very formal and professi onal manner, with a chair, session heads, and designated speakers. There was, however, a strong sense of conviviality in the room, and during the breaks, and at lunch, it was obvious that this group of approximately 60 people knew each other well, enjoyed each others company, and were going to work together on this problem of Alpha-1 drug development. During the breaks, and at lunch, I was introduced to many of the participants. Without exception, every person I was introduced to praised John Walsh, and the Alpha-1 Foundation. I thought it a bit odd at th e time, but it was an ongoing experience throughout my nine years in the community, and a consistent theme in the positive relations of the Foundation with industry, and government. The purpose of the workshop was to stimulate fa ster development of new aerosol drugs for Alpha-1 lung patients. Since available therapy wa s limited, at that time, concurrent development of several promising, new therapies was a central goal of the Alpha-1 co mmunity. After all the presentations were given explai ning the delays in drug developm ent, and during the discussion period when specific plans for drug developmen t were being made, Jack McCormick, Deputy Director of the United States FDA, jumped up, and announced in loud voice (just like a game show host), lets make a deal. Dr. Brantly, wh o served as chair of that workshop, remembers McCormick saying, dont let perf ection be the enemy of progress which he interpreted as a comment on the laborious, and precise, process of drug approval. Given my unfamiliarity with the scientific content of the wo rkshop, in those first weeks on the job, it is understandable that my memory of this incident is of the th eatrical nature of McCormicks pronouncement.
20 However, Dr. Brantly, John Walsh, and I all reme mber, and agree, that McCormick provided the impetus, during that workshop, for the various stakeholders in drug development to move beyond a roadblock in the approval process that was holding up much-needed Alpha-1 therapy. For, McCormick offered, during the workshop, the unprecedented option to competing pharmaceutical companies to concurrently develop aerosol drugs for Alpha-1. Traditionally, one company has exclusive rights to develop a certain drug, and it is only after the original license runs out that other companies can develop their versions of the same chemical compound. But, in the Alpha-1 community, there was a dangerous shortage of drugs that year, because of contaminated blood supplies used to develop the dr ug. It was critical that more companies start producing more drugs to meet the growing dema nd. Jack promised that the FDA would permit the fast-tracking of more than one application to develop aerosol therapy for Alpha-1. It is a promise that he kept, and it led to more drugs available to the Alpha-1 community in a shorter timeframe. The workshop was a complete success in that it provided an understand ing of the state of drug development at that time, and because all of the important stakeholders in drug development participated. But, th e workshop also led to a change in how the FDA worked with rare disease groups, a successful outcome not orig inally envisioned as a goal of the meeting. In addition, the workshop was important to the newl y organized Alpha-1 F oundation, as it validated the Foundations role in negotiating deals be tween researchers, industry, and government. Another unique aspect of the workshop was th at it brought research ers and industry people together, and talking, in a way that promoted working together to develop approvable drugs. Before that time, the Alpha-1 researchers had submitted drug trial proposals to industry that were returned over and over for changes; since that wo rkshop the Alpha-1 researchers have been able
21 to coordinate with FDA employees during development of their projects, and work out potential problems, so that a faster approval is more often assured. According to Dr. McCormick, there were no other Voluntary Health Orga nizations at that time that had achieved this type, or level, of success in fast-tracking ra re disease drug development (McCormick, Pers. Comm., 2002). In recognition of the unique role the Foundation, and John Walsh, play in drug development, the FDA awarded John a special citation in 2002. Over nine years, I became better acquainted with Jack McCormick, who attended all the Foundations scientific c onferences and workshops. He told me on more than one occasion, that John Walsh, and the research network created around the Alpha -1 Foundation, was the reason that the process of drug development changed, at least for rare diseases. Jack was wont to announce, during lavish awards ceremonies that the Foundation always organized during conferences, that John Walsh is the smartest man I know. I always understood that compliment as Jacks way to praise the Foundation, and as his recognition of the power of a single patient. The kudos was especially meaningful, in the ear ly years of the Foundations growth, as our immediate organizational goal at that time was to establish scientific credentials. Jack was acknowledging that we were achieving the positive relation we desired with the scientific, and regulatory, communities. Jack was a key player in government appr oval of drugs at that time, and his opinion of John, and the Foundation, may he lp explain why I began to perceive this community as empowered, and why I began to wonder how Alphas, and the community, became that way. My second story is about Marta. Marta asked th at I talk about her as a way to explain how empowered a person can become in the Alpha-1 comm unity. Marta is in her late fifties, and has served as an AlphaNet coordinator for many years. Although her educational background is
22 limited (high school), and her diagnosis of Alpha-1 was initially overwhelming and scary, she is very knowledgeable about the di sease in lay terms, and plays an important role in cultivating the patient support network. She is, in her own wo rds, totally dedicated to reaching out to newly diagnosed individuals, and spends ma ny hours a day on the phone counseling other Alphas, and accelerating their proc ess towards empowerment. She also served as a key informant for this study. But, Marta is not only Alpha-1 An titrypsin Deficient; she has had breast cancer to deal with as well. I spoke to Marta in July, 2008, as I had been told she has a re-occurrence of her cancer. Unfortunately, despite her complaints and request s for help from her physicians, and because of insurance issues, she was not diagnosed with the re-occurri ng cancer until it had already metastasized. She is in pain, and tired from her chemotherapy. She is also having her usual Alpha-1 related breathing problems, so talking to her was difficult she kept gasping for breath while explaining about her cancer. When I asked her how long she had to stay on chemotherapy, she said, the rest of my life. But she di d not sound sorry for herself, and although she acknowledged she had some pain, she did not complain. When I mentioned that I needed to stre ngthen my argument about why I thought the Alpha-1 community is so empowered, Marta was in credulous. She asked me, Did you tell them about the coordinators.Alphas taking care of each other.how ma ny hours a week the coordinators work? Did you tell them about the Registry. the educationa l days? When I said all those things were in the study, Marta told me, Write about my situation. Explain that [d espite having Alpha-1 and breast cancer], I continue to FIGHT every day of my life, and for a cure for all Alphas. My strength comes in doing something about what I have. Im not a victim. Im lucky to be part of this community.
23 Although Marta pointed to the structural co mponents of empowerment in the community, ultimately it is her individual choice to be empowere d rather than be a victim, and in that sense, she does represent the majority of Alphas I ha ve met and interviewed. However, she is an AlphaNet coordinator, and as suc h, is one of those who have made a very strong commitment to community involvement. She also represents so meone diagnosed many years earlier and further along in awareness, than perhaps the majority of Alphas in the United States. Whether Marta represents all Alphas, or just the high end of the empowerme nt scale in Alpha-1, may be answered in future studies. What is true, is that she has an empowered attitude, is a visible representative of the Alpha-1 community, and her strength, despite her c ondition, is similar to what I observed among the majority of Alphas I met. Meeting people like Marta and John Walsh made me want to explain what made indi viduals in this community so empowered. I should also note several other attributes of the Alpha-1 community that are unique, for a voluntary disease community, and I identified as vari ables of empowerment. These attributes are, 1) extremely effective (and charismatic) leadership ; 2) the use of a profit able business model for a not-for-profit organization; 3) the amount and quality of resour ces available in the community for both scientists and patients; 4) an eff ective advocacy program and numerous, notable accomplishments in that area; 5) the effective networking between patients, organizations, government, and industry; and, 6) a very well defined community identity complete with nickname (Alphas), color (purple), and ritualiz ed, annual events and m eetings. Each of these attributes is described in more detail in Chapter 2: Leader of the Pack: Ethnography of Alpha-1 and the Alpha-1 Community in the United States Taken together, the st ructural and personal forms of empowerment I observed in this co mmunity, assessed against the literature on empowerment, led me to my belief that empow erment in the Alpha-1 community is more
24 pronounced, and visible, than other rare and genetic disease communities with comparable numbers of diagnosed individuals. My opinion about empowerment in the Alpha-1 community is not unique, or overstated, and there are, as noted earlier, numerous examples that I could provide to demonstrate that this opinion is a widely-held view. I, therefore, conclude this argument by quoting from a lengthy email that I received on September 10, 2008, from St ephen C. Groft, Pharm. D., Director, Office of Rare Diseases, National Institutes of Healt h. When asked if he could confirm my impression of empowerment in Alpha-1, he wrote: Thank you for the opportunity to discuss the su ccess of the Alpha -1 Foundation. Without any doubts, I can say that the Foundation under th e leadership of John Walsh is one of the truly outstanding patient advocacy or ganizations in the United States. John has developed the Foundation to be respons ive to the informational and psychological needs of the patients and their families. Info rmation for patients and researchers has been developed and is readily available on the F oundation website on topics such as standards for diagnosis and treatment, education opportun ities, and ways that you can help. Presence and participation of the patients and the fam ilies at the annual meeting is remarkable. I have seen the Foundation grow in numbers and in impact upon government agencies as their voices are now being h eard by program officials who recognize the Foundation as a truly successful and active Voluntary Health Or ganization with a commitment to research and the discovery of treatments for Alpha-1 Antitrypsin deficiency. The Foundation also makes available direct se rvice to health care providers This information is essential to the effective treatment of patients. Not every patient organization is able to provide this extensive amount of information. The foundation is viewed as a model for other patient advocacy groups to follow. I have referred numerous newly established patient advocacy organizations to John Walsh the President and CEO of the Founda tion to learn how to establis h an organization and expand the activities to enable an increase of rese arch emphasis and to provide needed services to patients and families. John has also pr esented numerous speeches about the functions and activities of the F oundation to national medical and prof essional associations as well as to national patient organizations. I hope this helps explain the significant cont ributions that the Foundation provides to the rare diseases community affected by Alpha1 Antitrypsin Deficiency and the level of accomplishment of the Foundation. Please let me know if additional information is needed.
25 Dr. Grofts comments are typical of the complim entary attitude government officials, and industry representatives, have always shown towards John Walsh, the Alpha-1 Foundation, and, by extension, the Alpha-1 community. His willingness to provide this information is also typical, and a further indication of the level of influen ce John Walsh has created for all members of the community, including myself. And, Dr. Grofts remarks may put my own impressions of the Alpha-1 community, and assessments of my qualita tive data, into proper perspective as unique among the rare disease communities. Developing the Research Questions This em powerment study is envisioned as the first in a series of studies relating to quantifying, and measuring, empowerment in the Alpha-1 community. This long term research plan is motivated by a series of questions that arose during my years of working with the Alpha1 community. My doctoral research explor es the initial question, What constitutes empowerment in the Alpha-1 community? But, to answer that question I needed to be able to quantify, and measure empowerment, so I expanded the initial question to explore broader topics of inquiry, i.e., the underlying me thodological and theore tical implications of my research. I considered the diverse ways of measuring qualitative data, the challenges of recruitment, how much community participation affects study outco mes, and the translational aspects of mixed methods. These led to additional questions be yond my initial question of, What constitutes empowerment in the Alpha-1 community? The study design addresses both th e initial five questions, and the additional issues that arose. This includes questions like, how could a complex social construct like empowerment be quantified (i.e., how do I operationalize this re search question into a study design)? Which definitions of empowerment should I use, and w ho should provide those definitions? What is the best method to obtain a community-derived defi nition of empowerment? How do I recruit, who
26 do I recruit, and would the recruitment method re sult in a representative sample? How do I turn the qualitatively derived data in to a useful format for statistical analysis? Which statistical approaches would be appropriate for measuring the data? How shoul d I interpret the data what is the best way to derive meaning from the numbe rs? And, since a statistical analysis may either confirm or refute the qualitative assessments, how should I evaluate any discrepancies between the qualitative and qua ntitative results? To answer these questions I began by reviewing relevant literature, and refining my questions about empowerment in the Alpha-1 community. The development of these research questions required unpacking the social cons truct of empowerment into di stinct components. Unpacking the concept empowerment also involved operationalizing such co mponents as awareness into distinct stages of learning, a nd defining networking as the quantity, and quality, of relationships, in order to measure them (Handwerker, 2003). This research is modeled, in part, on scientific studies, and is ba sed on several research questions, my years of observation, and a review of literature. I had developed preliminary research goals, during my years of participant observation that I modified after my literature review. However, for a workable study design, I had to further refine the research goals, and turn them into questions that were testable, a nd that would answer specific questions about empowerment in the Alpha-1 community. Further changes to the research questions followed early focus group data analysis, and continue d throughout the study. This evolution of the questions, and research goals, was appropriate within the pa radigm of a grounded theory approach, and gave me the freedom to adjust the theoretical parameters of the study as I gained more information about the community (Charmaz, 1994; Glaser and Strauss, 1967; Glaser, 1992; Irurita, 1996; Kearney et al. 1995; Maijala et al. 2 003; Strauss, 1992). I applied this approach as
27 it fit the situation empowerment had been defined many times in the literature, but a definition relating specifically to a rare disease community needed to be developed as a reiterative process between me and members of the community. I rec ognize that there are theoretical debates about grounded theory; however, my focus is on the ut ility of the techniques developed in grounded theory, and their usefulness for my study. A description of the basis for each research question, and implementation strategies for each research goal, follows. Research Question 1: Is patient empow erment a visible sign of a shift in the hegemonic relation between physicians and patients? Key elements in a shifting hegemony in the construction of knowledge in Alpha-1 relate to the increased use of the Internet, the institutionalization of patient empowerment as a social movement, and the increased effectiveness of patient advocacy groups for specific genetic disease communities. This question was explored through interview questions about res ponsibility and control of chronic disease, the quality of physician-patient interaction and power relations and the patients level of trust in the knowledge their medical providers possess. Research Question 2: Does business expertis e, and organizational leaders ability to garner a seat at the table in policy making and accelerated drug development, make these organizations, and their leaders, structurally powerful? Patient-driven organizations in the Alpha-1 community are led by particularly effective and knowledgeable l eaders. This question was operationalized as interview questions about involvement of Alphas in policy making, membership in organizations, advocacy activitie s, network relations ( number of Alphas they know), and attitudes about assisting, representing, or leading other Alphas.
28 Research Question 3: Are patients with a ccess to resources in the Alpha-1 community more likely to become empowered on a person al level? And, are the components of personal empowerment effective disease se lf-management, increased awareness of the condition, and effective communication with medical staff? The earliest signs of empowerment in Alpha-1 are the evolution of awareness about the condition, which may depend on good communication with medical staff, followed by improved disease management. These research questions were explor ed through interview questions a bout the level of disease selfmanagement, scaled responses on understanding of cond ition, and evaluation of the quality of interaction, and communication, with health professionals. Research Question 4: Do domains of empowerment form a unidimensional scale (Figure 1-1). There is a qualitative difference between Alpha leaders and the general Alpha population, however, structural empowerment of a few benefits the entire community. This question was explored through a statistical an alysis of the components of empowerment, to verify whether or not certain forms of empowerment preceded other forms. Choosing the Alpha-1 Community A prim ary motivation to study the Alpha-1 co mmunity was my access to, and familiarity with, this closed population. I had already lear ned the local lingo, (the medical terminology associated with Alpha-1), knew people from all segments of the community, and had played a visible, and central, role in the community that facilitated my recruitment efforts. A secondary motivation was the role the Alpha-1 community has played among other disease communities in the United States. I percei ve it is a model community it represents the ideal of an effective, and productive, network that serves both the patient and biomedical communities. Answering questions about empowermen t in Alpha-1 might be of great benefit to
29 other communities as they devel op their resources and infrastructu res, and give members of the Alpha-1 community an additional sour ce of pride and positive identity. However, like many other researchers, I am draw n to a particular rese arch topic because of its relevance to me intellectually and personall y. I was interested in studying the Alpha-1 community when I entered school, but after readi ngs for a medical anthropology graduate course I had a clearer understanding of how to approa ch an ethnographic study of a disease group, and how to tell such a complex story. There were several medical anthropology studies that particularly stimulated my interest in creati ng an ethnography of the Alpha-1 community, such as Cohens study of Alzheimers in India (1998), an d Locks study of menopause in Japan. But, it was the approach used by Mol, in The Body Multiple (2002), to describe at herosclerosis, that I found the most intriguing. Her study of the variet y of enactments and locati ons of atherosclerosis strongly influenced my thinking about the Alpha -1 community, and gave me a framework for how best to characterize such a variable condition as Alpha-1. Mol takes the reader through a number of differe nt locations in a hospital relating to the experience of atherosclerosis, and gives a detail ed description of the en actments, or types of activities, that occu r in the patients life, and in the medi cal setting leading up to a diagnosis and treatment. Atherosclerosis, like Alpha-1, does not reside in one place in the body, but is a condition affecting many different organs and systems. Diagnosing atherosclerosis, and Alpha-1, requires discerning a particular set of markers (measurements of body functi on) as indicative of a condition, ordering a test, interpre ting the test results, communicating with the patient and their family members, treating the condi tion, and together with the patient, trying to achieve a cure or lessen the negative impacts of disease progression. These events occur in different places, and involve a variety of scientists, clinicians, nursing staff, and lay individual s, each with their own
30 way of describing the experience of atherosclerosis, or Alpha1. Mols book provided me with a model for understanding a complex medical condition: first, unpack the various enactments and locations, describe the different languages used to describe the enactments, and then reassemble the elements into one story. Although I already understood Alpha-1 as a complex condition, I felt Mols book provided the most us eful model for how I could explain Alpha-1, and the many people involved in the Alpha-1 community. On a more personal level, I was drawn to studying a lung disease community because my mother, at that point in my life, had advanced lu ng disease, and I seemed to be developing some lung-related problems. Although my mother was di agnosed with Chronic Obstructive Pulmonary Disease (COPD), not Alpha-1, I knew that throu gh my involvement in the Alpha-1 community I would discover more about lung biology, hear about the latest therapies an d treatments, and learn how I could manage our conditions. Lawrence Cohe n, in his study on Aging in India, best sums up my personal motivation for studying a lung di sease community. Although his book focuses on the aging process, I saw myself in his comment, T he natives of the country of the old, for those of us who visit as tourists, are our own fu ture selves (Cohen, 1998). In a community of individuals grappling with fatal lung disease, I could become mo re aware, and empowered, about my own familys health issues. I also aspire, as an applied anthropologist, to intervene in the lives of my study subjects through my research, and contribute to the body of knowledge in anthropology and medicine relating to the social aspects of disease management. The interventional potential of my research became a stronger motivation as I read litera ture on empowerment, medical anthropology, and Science and Technology Studies (STS). Like many before me, I was drawn with fascination into the world of science and technology, and hope my research on existing, and shifting, hegemonies
31 in a rare, genetic disease community might cont ribute to a larger body of knowledge in medical anthropology and linguistic anthropology. Summary of Research The following chapters describe the fieldwork methods, types of analyses, and the results of the research. However, the research results are prefaced by an ethnogra phic descrip tion of the condition Alpha-1, and the Alpha-1 community, in Chapter 2, Ethnography of the Alpha-1 Community. The ethnography is essential bac kground information for understanding the variability of the genetic conditi on Alpha-1, and, as a framework for my research questions about the empowerment of community members. Th e ethnography includes details about specific enactments of Alpha-1, such as the patients pers pective of illness, the structure of laboratory culture, and the complexities of laboratory procedures. The ethnogr aphic information also covers the Alpha-1 community, its evolution and current st ructure, and the charact eristics, interactions, and relations among the stakeholders in the community. Chapter 3, Theoretical Framework, describes the theories used as the context for the study, the anthropological fieldwork me thods, and the analytic techni ques employed in the linguistic phase of the study. I describe recruitment proce dures, the format of focus group sessions and interviews, my experience of hiring in, and provide a self-a ssessment of the level of communicative competence I had gained in the community. Through examination of the philosophical and pragmatic framework underlying my research, I seek to situate my study within the larger body of knowle dge in anthropology and linguistics, and to acknowledge the influence of previous resear ch on the design of my study. Chapter 4, Narrative Analysis, presents the resu lts of the analysis of interview data, and focus group sessions, and a prelim inary definition, and model, of empowerment. The analytic techniques that are described led to devel opment of a codebook that includes themes, and
32 overarching meta-themes, relating to the experien ce of Alpha-1. These thematic components, in turn, became the basis for the de sign of a statistical analysis. Chapter 5, Linguistic Analysis of Medical En counters, describes the fieldwork conducted in medical offices, and the linguistic analysis of those encounters. The chapter also explains the purpose, and format, of the ethnography-of-speaking approach, and concludes with the results of the analysis. This phase of the research also in cluded an assessment of the hegemonic relations between physicians and patients, based on obs ervations of their verbal and non verbal interactions during medical office visits. The statistical analysis is detailed in Ch apter 6, Quantifying Empowerment. This chapter includes description of how qualitative components were translated into quantitative data, the statistical approach used to analyze the data, a nd concludes with a discus sion of the statistical significance identified between specific components of empo werment, and how quantitative results were correlated with the qualitative results. Chapter 7, Empowerment is Simple, Empowerment is Complex, presents the conclusions of the study, the relevance of th e findings for the Alpha-1 commun ity, and for other rare disease communities, and the possible benefit the study results may have for chronic lung disease patients. Chapter 7 also includes a description of future research st udies that will be based on the results of this research. The study resulted in recommendations that could promote many different types of empowerment, and a view of empowerment as bot h an individual experience and an experience that is shared by communities. These recommenda tions are based on identi fied, and effective, components of empowerment in the Alpha-1 comm unity, and could assist this community, and
33 other patient groups, to achieve maximal levels of empowerment, or augment current efforts at empowerment into the most effective channels.
34 Figure 1-1. Network relations in the Alpha-1 community
35 Table 1-1. Stakeholders in the Alpha-1 community User Group Characteristics Activities Relation to Alpha-1 Diagnosed individuals Newborn liver patients (with jaundice) Illness, failure to thrive, hospitalization Patient Pediatric liver patients Illness, transplantation Patient Adult liver patients Illness, transplantation, research, advocacy Empowered person or disabled patient Pediatric lung patients (with lung disease) Illness, hospitalization Patient Adult lung patients (dypsnea, lung disease) Illness, disease mgmt, advocacy, research Empowered person or disabled patient Alpha family members Spouses, Partners Provide care giving, emotional & economic support or desert family Marital responsibility Children, Grandchildren Support, test for Alpha-1 or denial Familial involvement Genetics Siblings Support, test for Alpha-1 or denial Familial involvement Genetics Parents Care giving, emotional & economic support or desertion Parental responsibility, Genetics Cousins, Nieces, Nephews Support, test for Alpha-1 or denial Familial involvement Genetics Caregivers Family member Care giving, economic responsibilities Familial responsibility Professional caregiver Care giving, physical support, chores Commercial Friend Care giving, emotional support, chores Social Lung Organization staff Provide support, education, advocacy, fund research Scientific and Educational Liver VHA staff Provide support, education, advocacy, fund research Scientific and Educational Genetic VHA staff Provide education, advocacy, networking Scientific and Educational Voluntary Health Associations (VHA) Bioethics VHA staff Provide education, advocacy Philosophical Medical Professionals Liver and Lung Doctors Diagnosis, medical treatment, education Biomedical and Educational Nurses, PAs Medical treatment, education Biomedical and Educational Respiratory Therapists Therapy, education Biomedical and Educational X-ray technicians, physicians Diagnoses Biomedical Transplant surgeons Surgery Biomedical
36 Table 1-1. Continued User Group Characteristics Activities Relation to Alpha-1 Researchers Pulmonology/ Allergy Study lung, upper airways Biomedical Hepatology/Gastroenter ology Study liver related conditions Biomedical Basic Science: biology, pathology, chemistry Study molecular & chemical processes Academic Scientific Genetics Study genes, gene therapies Academic Scientific Bioethics Study ethical issues related to Alpha-1 Academic Philosophical Social/behavioral science, psychology, anthropology Study social impacts of Alpha-1 AcademicSocial Public Health: epidemiology, statistics, economics Investigate prevalence, costs of Alpha-1 Academic Numerical Laboratory personnel Diagnoses, research, tissue and DNA banking Biomedical Government Employees National Institutes of Health Support, prioritize and manage research Scientific Centers for Disease Control Conduct research Biomedical/Scientific US Food & Drug Administration Oversee safety and use of drugs Biomedical/Scientific Presidential Advisors Advise executive branch Political Legislators Prioritize needs, appropriate funds Political Lawyers and Judges Defend patient rights, rulings Legal Business Interests Pharmaceutical personnel Research and manufacture drugs Biomedical and Commercial Medical Devices personnel Research and manufacture devices (portable O2, aerosol delivery devices) Biomedical and Commercial Health Management personnel Distribute drugs, nursing services Biomedical and Commercial
37 ACC RES AWA DSM RES PAR ORG MEM ORG LEA PX ADV MSO POL Personal Empowerment Structural Empowerment a 1 1 1 1 1 1 1 1 1 b 1 1 1 1 1 1 1 1 0 c 1 1 1 1 1 1 1 0 0 d 1 1 1 1 1 1 0 0 0 e 1 1 1 1 1 0 0 0 0 f 1 1 1 1 0 0 0 0 0 g 1 1 1 0 0 0 0 0 0 h 1 1 0 0 0 0 0 0 0 i 1 0 0 0 0 0 0 0 0 Figure 1-2. Personal and structural empowerment as a unidimensional scale. 1 = Yes, 0 = No; ACC RES = Access to resources; AWA = Awar eness; DSM = Disease Self-management; RES PAR = Research participation; ORG MEM = Organizational membership; ORG LEA = Organizational leadership; PX ADV = Patie nt Advocacy; MSO = Membership in supraorganization; POL = Policy maker. This fi gure is a visualizati on of the temporal progression from personal forms of empowerme nt, such as access to resources, to structural forms of empowerment, like bei ng an organizational leader. Using a Guttman scale implies that empowerment is not a uni tary condition that can be described or answered with one descriptor, but is an evolutionary process. The scale also demonstrates which forms of empowerment form the dimension, personal empowerment, and which components form the second dimension, structural forms of empowerment.
38 CHAPTER 2 ETHNOGRAPHY OF THE ALPHA-1 COMMUNITY What is Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitryps in Deficiency (hereafter re ferred to as Alpha-1) is a rare, genetic condition that is estimated to affect 100,000 individuals in No rth America (Abboud et al. 2001; Campbell, 2000; Campos et al. 2005, Crystal, 19 89; Crystal et al. 1989; deSerres et al., 2006a, 2006b, 2003; deSerres, 2002; Eriksson, 1963, 1996, 1999; Hersh et al., 2004a,b; Hutchinson, 1988; Luisetti and Seersholm, 2004; Miravitlle s et al., 1998; Silverman et al. 1989). The deficiency primarily affects soft tissue, like th e lungs, and the majority of those diagnosed are lung affected. However, Alpha-1 can also affect the liver, (and more rarely, the skin or eyes), and a smaller proportion of those diagnosed have actual liver disease. Of the 3,376 diagnosed individuals enrolled in the Al pha-1 Research Registry, 68.08% ha ve one or more lung symptoms, but only 328, or 9.92%, have one or more liver symptoms.1 The lung disease associated with Alpha-1 a ppears as chronic bronchitis, asthma, severe allergies, or recurrent pneumonia, and the pati ent is often misdiagnosed as having one of these other lung, or allergy, conditions (Stoller et al 2005, 2007a). Adults, with liver disease from Alpha-1, may show elevated liver enzymes, but th eir liver disease is considered a Non-alcoholic Stereobolic Condition, or NASH, and their deficien cy of Alpha-1 is not confirmed until a biopsy is conducted, and cirrhotic liver tissue found (Teckman, 2007; Teckman and Lindblad, 2006). Adult liver patients are often not diag nosed as Alpha-1 until after death. Alpha-1 is usually diagnosed when an individu al is symptomatic for lung or liver disease, and in some rare cases has an eye or skin c ondition, or is a family member of a diagnosed 1 Symptoms are self-reported; individuals may list more than one symptom; some provided no symptoms. (Strenge, 2008, Alpha-1 Research Registry Quarterly Report, Medical University of South Carolina).
39 individual (Campos et al. 2005; Celedon et al. 2000; Dahl et al. 2001; deSerres 2003; Eriksson 1987, 1999; Fleming et al. 2001; Luisetti et al. 1999; Piitulainen et al. 1997; Piitulainen and Sveger 1998; Navickis and Wilkes 2004; Stol ler et al. 2005, 2007a; Sveg er and Mazodier, 1979; Sveger and Thelin, 2000; Wencker, 2000). Symptoms are variable: newborn infants or children may develop severe jaundice; a dults may have unexplained liver disease not caused by alcohol; or children and adults may have chronic and increasing lung and upper ai rway diseases (Abbott, 1988; Anonymous, 1997; Anonymous, 2003; Buist, 1990; Chappell et al. 2008; Cox, 1978; Eriksson, 1987; Fischer et al. 2000; Knebel et al. 2000; Needham and Stockley, 2004; Piitulainen and Eriksson 1999; Piitulainen and Sveger 2002; Roberts et al. 1984; Sandhaus, 2006, 2004; Seersholm and Kok-Jensen 1998; Stoller 2004; Teckman 2007; Teckman and Lindblad 2006; Tanash et al. 2008; Vreim et al. 1998; Zhou a nd Fischer, 1998, 2000; Fr egenese and Stolk, 2008; Hogarth and Rachelefsky, 2008). As noted above, since the pulmonary symptoms are outwardly similar to other conditions, Alpha-1 is frequent ly misdiagnosed as asth ma, Chronic Obstructive Pulmonary Disease (COPD), or allergies (Sto ller et al. 2007a, 2005, 2004; McElvaney et al. 1997; Mulgrew et al. 2007). Since it is a rare condition many primary care physicians and pulmonologists do not consider Alpha-1 as a possible cause of their patients lung disease, or they are reluctant to order a test for a condition with no known cure. Liver specialists, on the other hand, are more apt to order a test for Al pha-1, especially among their pediatric patients (Chappell et al. 2008; Teckma n, 2007; Bakula et al. 2007). Diagnosis is done through a variety of modalities: the preliminary test is a simple blood test to determine the level of Alpha-1 in the bloodstream (lower levels indicating deficiency), followed by genotyping and phenotype to determin e the particular form of Alpha-1 (the phenotypic variant), lung x-rays and CT scans to determine the extent, and type, of lung damage,
40 and liver enzyme tests and liver biopsies to eval uate liver function, and confirm the presence of cirrhosis (Brantly, 2006; Carpen ter et al. 2007; Costa et al. 2000; Eriksson, 1987; Guest and Hansell, 1992; Kaczor et al. 2007; Ljujic et al. 2008; Ortiz-Pallardo et al 2000a, b; Pittschieler 2001; Shaker et al. 2004; Stockley and Campbell, 2001; Stoller et al. 2007a, 2005; Parr et al. 2008; Ferrarotti et al. 2007, 2008). Lower levels of Alpha-1 in the blood, and certain phenotypic variants, are known to be higher risk factors for developing eith er the lung or liver disease associated with Alpha-1 (Fregonese and St olk, 2008; Brantly 2006; Sandhaus, 2006, 2004; Stolk et al. 2006; Teckman 2007; Teckman and Lindblad 2006). However, the precise development of the disease is variable, and some with the highest ri sk phenotype are not sick whereas others, with a lower risk, are quite ill (Black and Ku eppers, 1978; Coakley and Taggert, 2001; Dahl et al. 2001, 2002, 2005; Hersh et al. 2004a, b; DeMeo and Silverman, 2004, 2003; Scott and Enger, 2006; Seersholm et al. 2000; Zhou and Fisc her, 1998, 2000; Sandford et al. 2001, 1999; Graziadei et al. 1998; Hutchins on, 1988; Pelham et al. 1985; Shigeoka et al. 1976). Although over 3,000 individuals have enrolled in the Alpha-1 Registry, it is estimate d that approximately 5,000 individuals in the United Stat es, and an equal number in Eur ope and the Middle East, have been diagnosed with Alpha-1 (deSerres et al. 2007; Luisetti and Seersholm, 2004). Biomedical Descriptions Since its discovery in 1963 (Laurell and Er iksson 1963; Eriksson, 1990) descriptions of Alpha-1 Antitrypsin Deficiency in the biom edical literature usually begins with the date of its discovery, and notation of its genetic position at locus 14 among a class of proteins called SERPINS (Altay, 1973; Blank and Brantly, 1994; Brantly, 1997; Brantly et al. 1988a, 1988b; Byth et al. 1994; Carrell 2004; Carrell and Lomas, 1997; Cox 1997; Cox and Mansfield 1987; Cox et al. 1985; Crystal et al 1989; DeMe o and Silverman 2004, 2003; Gooptu and Lomas, 2008; Lieberman et al. 1986; Liu et al. 1998; Lomas, 2007; Lomas and Parfrey 2004; Lomas and
41 Silverman et al. 2001, 2000, 1992; Silverman and Palmer 2000; Marcus et al. 1998; McElvaney et al. 1997; Mulgrew et al. 2007; Seixas et al. 2001; Wood and Stockley 2007). Many articles characterize Alpha-1 as monogenetic, as a metabolic condition, or as a genetic cause of emphysema, and there is usually some discussi on of it genetic transmi ssion, and inheritance patterns (Axelsson and Laurell, 1965; Bamforth and Kalsheker, 1988; Barnes, 1999; Cox 1978; Cox et al. 1985; DeMeo and Silverman 2003, 2004; Elzouki et al. 1997; Fa gerhol, 1968; Flint and Mott, 2001; Greene et al. 2008; Kalsheker, 1994; Lomas and Silverman, 2001, Sharp et al. 1969; Silverman et al. 2001). Secondarily, Alpha-1 is characterized epidem iologically. Prevalence statistics are cited, and most articles note the higher penetrance, or number of peopl e identified with the condition, among North European, Caucasian, or white, populations, and the ra rity of Alpha-1 among Asians or blacks (Stoller et al. 2007; Campos et al. 2005, Balb i et al. 2007; Stockley et al. 2007, 2002; deSerres et al., 2007, 2006a, 2006b, 2003; Stolk et al. 2006; Navickis and Wilkes, 2004; Ioachimescu and Stoller, 2005; Corbo et al 2003; Miravitlles et al. 2002; deSerres, 2002; Takabe et al. 1992; Seyama et al. 1995; Silverma n et al. 1989). Occasionally, one hears of the origins of Alpha 1 in romantic terms: such as th e oft-repeated story that Alpha-1 was spread via Viking explorations (deSerres, Pers. Comm. 2002). The scientific articles are much more constrained in their theories about the genetic patterns, and, primarily have focused on identification of specific haplotypes in Europe an d South Africa, or describe the slight genetic differences in prevalence from the North to the South of Spain, or between blacks and whites in South Africa (Byth et al. 1994; deSerres, 2003, 2002; Seixas et al. 2001; Gaillard et al. 2004; Smith, 1994).
42 The pathogenesis, or development of disease in Alpha-1, is then ge nerally described. The development of different types of disease is detailed, and a descrip tion of the particular symptoms relating to the lung or liver disease is provided. Artic les on disease development also describe current treatments, the development of new therapies, and, generally include some mention of family risk factors, and recommendations for targeted testing of family members and symptomatic individuals (Anonymous, 1997; Anony mous, 2003; Barker et al. 1994; Dirksen et al. 1999; Eriksson 1983; Gildea et al 2003; Gottlieb et al. 2000; H ill et al. 1999a, b; Hubbard and Crystal 1990a, b; Fregenese and Stolk, 2008; H ogarth and Rachelefsky, 2008; Knebel et al. 2000; Khnlein and Welte 2008; Lieberman 2000; Miravitlles et al. 1994; Needham and Stockley, 2004; Perlmutter et al. 2007; Sandhaus, 2006, 2004; Seer sholm et al. 1997; Silverman and Speizer 1996; Snider, 1989; Stocks et al. 2006; Stockley et al. 2002; Stolk 2006; Stoller 2001; Stoller and Aboussouan 2004; Stoller et al. 2007b, 2002; Stone et al 1995; TarasevicieneStewart and Voeklel 2008; Teckman 2007; Teck man and Lindblad 2006; Tanash et al. 2008; Turino, 1991; Viskum and Kok-Jensen, 1990; Vogelmeier et al. 1990; Wencker et al. 2001, 1998; Wewers et al. 1987). There is a separate body of scien tific literature dealing with th e basic processes involved in Alpha-1 production, transport, and molecular function (Zhou and Fischer 1998, 2000; Song et al. 1998, 2000, 2001; Sifers et al. 1992, 1990 1989a, b; Lomas et al. 1992; Lomas, 1994; Aldonyte et al. 2008; Lin et al. 1998; Ja nciauskiene et al. 2002; Crysta l et al. 1989; Mallya et al. 2007; Termine et al. 2005; Gooptu and Lomas, 2008; Wencker and Brantly, 2005). To molecular scientists, Alpha-1 is considered a conformational disease, and cl assifies it as one of several genetic conditions that are caused by a misformation of a protein (Carrell and Lomas, 1997; Carell, 1990). Other conformational diseases incl ude Alzheimers disease, Parkinsons disease,
43 and Cystic Fibrosis. Many of the basic studies in Alpha-1 have appli cability to these other genetic conditions, which is a frui tful approach during an era of diminished funding for science. However, a great deal is still unknown about both the basic science relating to Alpha-1, and the pathogenesis of disease. I asked Robert A. (Sandy) Sandhaus, MD, PhD, a recognized expert in Alpha-1 research and clinical care, to articulate so me of these gray areas, the unknowns, about Alpha-1. Dr. Sandhaus, or Dr. Sa ndy as he is called in the community, is Medical Director of AlphaNet, and one of his re sponsibilities is to give orientation sessions about Alpha-1 to new employees, and newly diagnosed individuals. He is also one of the first individuals in the United States to study Alpha-1, and the onl y person, until recently, whose medical dissertation was about Al pha-1. He seems to love talki ng about Alpha-1, and we have had many conversations through the years about the science of Alpha-1. He readily agreed to an interview, and I prep ared by reviewing a lay article in an Alpha-1 magazine, that describes how the lung is damaged (Alpha-1 to One, Summer, 2004): Scientists know how Alpha-1 affects the l ungs only in the most obvious way. It causes lung damage known as emphysema. But to deve lop treatments that work, they need to know moreIn the lungs, the body produces pr oteases, which attack invading microbes and serve other important functions. The body al so produces anti-proteases such as AAT, which supposedly protects tissues from colla teral damage caused by proteases friendly fire. According to conventional wisdom, l ung damage occurs when the body produces too little anti-protease to prov ide sufficient protection. The article quotes Dr. Trapnell, the Scientific Director of th e Alpha-1 Foundation, who notes in the article that effective treatments w ill not be developed until the scientists understand exactly what is occurring on the molecular level (Trapnell, 2004) To achieve that understanding, Alpha-1 pulmonary researchers are focusing on three basic questions: what precise part of the lung is att acked? Which protease does the a ttacking? And where and why does inflammation occur?
44 Based on the information provided in the artic le, I prepared questions for Dr. Sandhaus, and arranged a time for our phone interview. Portions of the interview follow. SF: Sandy, I read Trapnells article, and ha ve a bunch of questions based on specific things he says in the article. Like, are pr oteases produced in other parts of the body? It occurred to me that a therapy that altere d the protease/antiprotease balance for the sake of improving the health of Alpha-1 patients might unintentionally change other protease interactions, but this proved to be a typical lay misunderstanding of a broadly stated scientific fact. Dr. Sandhaus clarified: SS: Proteases are a broad sub-set of proteins called enzymes, and all enzymes facilitate chemical reactions, like the activity of amylas e in saliva in breaki ng down starches into sugars. Proteases are a special class of chemi cal reactions that break down proteins into amino acids. Each protease has an active site, a target group that it likes, that it breaks apart. There are approximately 1,000 proteases and every cell, not just lung cells, has proteases. SF: Do we know yet which protease does the at tacking in the lungs? Is it proteases from white cells, from macrophages, or from both? SS: Research has shown that serine proteases in neut rophils, and macrophages were involved. SF: What about the cause of inflammation in th e lungs. Is it from the protease/antiprotease balance, polymerized AAT in the lungs, or abnormal AAT produced in epithelial cells? SS: This is still unknown, but David Lomas a nd Sabina and Ewa Marszal [researchers I know in Sweden, England and in Washington, D.C.] have shown that similar polymers were found in blood vessels, and the lungs (Lomas and Parfrey, 2004; Gooptu and Lomas, 2008; Janciauskiene et al. 2002; Marszal et al. 2003). But we do know which part of the lung is attacked. SF: Whos working on that? SS: Steve Shapiro. His studies have focused on different areas of damage including the wall of the air sac (Shapiro, 2007; Shapiro et al. 2003; Churg et al. 2002), and Rubin Tuder is looking at the underlying ti ssue scaffolding and interstiti al areas (Cantor and Turino, 2004; Snider, 2004; Turino, 2002). Theres also so me research on the blood vessels that feed the scaffolding. I dont remember who, but you can look them up (Voelkel et al. 2007; Tuder and Yun, 2008; Yoshida and Tuder, 2007).
45 Dr. Sandhaus then veered off into a half hour discussion of the DNA central dogma in Alpha-1, intoning unfolding, transc ription, translation and processi ng as if it were a mantra. I felt a bit lost with his detailed description of the molecular pr ocesses. However, it was obvious that Dr. Sandhaus long explanation about genetics was intended to address my questions, but many of the details he provided were deeply em bedded in an understanding of biology that I still do not possess. What did become clear to me, duri ng the interview, is that an understanding of the relevant molecular processes in Alpha-1, and the development of Alpha-1 disease, are still areas requiring a great deal of research before effective therapies are developed. The interview with Dr. Sandhaus also high lighted a common frustration many Alphas had told me about, and that I also experience the scientists are clearly excited about what they know, and the implication of this knowledge for Alpha-1 patients, but are unable to convey exactly what is so exciting, or put it into a c ontext that the patients can grasp. In addition, the scientists might be appropriately excited about pivotal discoveries, bu t these discoveries may only be a way to facilitate the ne xt set of experiments, and will not lead to a new drug, or a cure, for Alpha-1. The gap is wide betwee n the priorities of scientists, and the priorities of patients. Psychosocial Aspects In addition to the m edical literature on Alpha -1, there is also a smaller body of literature dealing with the psychosocial imp acts of a diagnosis or, as it is referred to in the Alpha-1 community, the Ethical, Legal, and Social Implica tions (ELSI) issues. Bioe thical considerations have always been central in the Alpha-1 community, and, on several occasions, important research has been stimulated by specific events in the community. These events included the perception of a breach of confidentiality, and the development of research programs requiring long term informed consent. Some of the ELSI re search deals with the et hics of genetic testing for a condition with variable expression (Stoller et al. 2007; Strange et al. 2006; Rachelefsky and
46 Hogarth, 2008; Wilcke et al. 1990; Wilfond and Fost, 1990). Severa l of the articles focus on ethical issues related to transplantation, such as the fairness of organ distribution, or the commercialization of body parts (Lynch et al. 2006; Zamberlan 1992, Sharp, 2006). Other bioethical studies have e xplored informed consent, the legal, and social, ramifications of genetic discrimination, privacy, and confidentiality, and co mmunity participation in research (Botkin, 2005; Pope et al. 2003; Foster and Sharp, 2006; Fuller and Ip, 2001; Fuller and Jeffries, 2001; Fuller, 1999; Guy et al. 1999; Greely, 2005; Hunt er and Caporaso 1997; Nelson et al. 2001; Sharp and Foster, 2002, 2006, 2007; Shar p et al. 2004; Weinfert et al 2003; Schutta and Burnett, 2000; Pentz et al. 2002; Moore, 2001; Meropol et al. 2003; Hutchinson, 1998; Roberts 1998; Halpern, 2003; Grant et al. 2000; Cox and McGarry, 2003; Comis et al. 2003; Cheng et al. 2000; Albrecht et al. 2003; Wilcke et al. 1990, 1999; Wilcke, 1998; Widdershoven and Verheggen 1999; Wulfsberg et al. 1994; Lappe, 1998; Stoller et al. 1994; Yarborough and Sharp 2007). There is also research on participation in clinical trials, which has been conducted for a variety of conditions. I include this research in a listing of literature on Alpha-1, as these articles are relevant to the experience of Alpha -1 patients. Participation in clinical trials is generally a more onerous process than participating in a research survey, for example, and I use such participation as an indicator of a greater level of commitme nt on the part of the patient, and a marker of empowerment (Albrecht et al 2003; Anonymous 2004; Cheng et al. 2000; Comis et al. 2003; Cox and McGarry 2003; Dickersin and Renni e, 2003; Mannheimer and Anderson, 2002; Meropol et al. 2003; Schneide r et al. 2003; Weinfurt et al. 2003; Zwitter, 1997). There is also some work about the forma tion of the Alpha-1 Research Registry, DNA & Tissue Bank, and the Alpha-1 Foundation (Fleming et al. 2001; Stoller et al. 2000; Walsh et al. 2006; Strange et al. 2004, 2006; Bake r et al. 2002). Unfortunately, th ere is still a limited amount
47 of social research specifically a bout Alpha-1, and some of the work cited here does not deal with Alpha-1. I reference the articles, as they provide me with insight in to broader social issues that are also important to the Alpha-1 community, such as participation in clinical trials, privacy, confidentiality, and ownership of genetic material (Merz et al. 2002; Merz and Cho, 2005; Beskow et al. 2004; Moyer et al. 2008; Botkin, 2005). Another field of interest in the Alpha-1 community has been pharmoeconomics. Several analyses of the costs associated with respirat ory and pharmaceutical ther apies, genetic testing, and transplantation among Alpha -1 patients have been conduc ted over the past two decades (Mullins et al. 2003, 2001; Alkins, 2000; Hay a nd Robin, 1991; Welch and Burke, 1998; Gildea et al., 2003; Shermock et al. 2005; Schoonmaker et al. 2000; Weinstein, 1991; McNeil et al. 1988). However, it is the articles written about the familial and psychological impacts of Alpha-1 on family members, and spouses, that I found th e most relevant for this study on empowerment (Fanos and Strange, 2004; Lappe, 1998; McNeil et al. 1985, 1986a, b; Nelson et al. 2001; Stoller et al. 1994; Sveger et al., 1999, 1997; Thelin et al., 1985a, 1985b; Rachelefsky and Hogarth, 2008; Coors et al. 2008; Wilcke, 1998; Wilcke and Seersholm 1999; Wilcke et al. 1990, 1999; Knebel et al. 1998, 1999). These articles highlight the personal and familial context affected by Alpha-1, and suggest that family members, and caregivers, may be the stakeholders in the community who are not so empowered. The psychosocial literature also includes a number of studies relating to Quality of Life (QOL) in Alpha-1 and other lung diseases, and in liver disease (Dawson et al. 1999; Gunzareth et al. 2001; Jones et al. 1991, 1992; Ketelaars et al. 1996; Knebel et al. 1998, 1999; Wijkstra and Jones, 1998; Spencer et al. 2001; McNeil et al. 1988, 1986a, b; Seemung al et al. 1998; Stoller et al. 1994; Jones et al. 1991, 1992; Barley and Jo nes, 1999; Thelin et al., 1985a, b; Zamberlan,
48 1992; Celli, 2008; Renwick and Co nnolly, 1996; Okubadejo et al. 1996; Quirk et al. 1991; Quirk and Jones, 1990). Although, my doctoral research does not specifically relate to QOL, my future research aim is to correlate the extent of em powerment with QOL in the Alpha-1 community. I, therefore, used QOL as a reference, and framework, for some of my questions about empowerment. I also reviewed studies of QOL in the medical literature, as a way to understand how to scale disability, and construct effective measurements of qualitative data (Wyrwich et al., 2007, 2006; Tsukino et al. 2002; Reardon et al. 2006; Gunzerath et al. 20 01; Gutierrez et al. 2007; Hajiro et al. 1998, 2000; Jones et al. 1991, 1992; Katsura et al 2007; Beddington, 1977; Fries et al. 2006; Goodacre et al 2006; Rat et al. 2007; Swigris et al. 2005; Fries, 1983; Grunfeld et al. 2008). Anthropological Approach Despite the broad range of topi cs relating to Alpha-1 that is covered by the literature, descriptions of the condition rem ain centered with in a biomedical framework, as if Alpha-1 was a solitary, well-defined entity. It is, however, a genetic condition that may or may not progress to disease, the disease may be in the lungs or in th e liver (or both), the condi tion may effect siblings and other relatives, or not, and an adult may be disease free, but have children with Alpha-1. In addition to its variability of e xpression (including being asymptom atic), Alpha-1 may represent a protease-antiprotease imbalance on the molecular leve l, a deficiency of a protective enzyme that causes cumulative destruction of soft tissue, a neurodegenerative condi tion like Alzheimers Disease, a gain of function or loss of function pr oblem for the liver and lungs, an irritant to the liver because it polymerizes, programmed for cell death because of miscues from the messenger RNA, none of the above, or all of the above. Describing it as a ge netic flaw, located in a specific place on the genome, may be one of the only unc ontested facts about Al pha-1, but it is not a summary of what it means to live with it, to research what causes it, or to cure it.
49 How then to describe the condition Alpha-1 Antitrypsin Deficiency? Mols study of atherosclerosis in a Dutch hospital had convinced me that diseases or genetic conditions, such as Alpha-1 Antitrypsin Deficiency, should not be explained as solitary conditions. Instead, a complex condition like Alpha-1 might best be desc ribed as an interlocking set of experiences ranging over a variety of enactments and domains from the frightening experience a patient has of breathlessness to the complicated scientific procedures conducted in a laboratory. Following Mols model approach with atherosclerosis, I examined Alpha-1 through multiple narratives and viewpoints, and present the experience of Alpha-1 as a body multip le, ranging over time, locations, knowledge, and e xperiences (Mol, 2002). Locations and Enactments of Alpha-1 The condition know as Alpha-1 Antitrypsin Deficiency affects a wide range of stakeholders (Table 1-1), a nd is best understood through its m any enactments and locations, rather than as a genetic entity around which a ll other experiences of Alpha-1 revolve. By removing the centrality of the biomedical descri ption, Alpha-1 is shown to be equally involved in social and familial experiences, philosophical and scientific inquiries, commercial interests, and as a set of issues that policy makers and le gislatures grapple with. The condition Alpha-1 is the hub, or raison dtre of the Alpha-1 community, surround ed by groups of stakeholders who all have an interest, or involvement, in Alpha -1 (Figure 1-1). These stakeholders include diagnosed individuals, patients and their fa milies, caregivers, support group members; organizational leaders and staff, professional lobbyists; medical professionals, bioethicists and social scientists; government empl oyees; scientific organizational staff; and biomedical industry employees. All of these groups, and individual s, have a common purpose, curing Alpha-1, and have, over time, created a group, or community, identity. This group refers to itself as the Alpha-
50 1 community and as the Alpha-1 Research Netw ork (see pages 62-71 for a detailed explanation of the community infrastructure). Each of the stakeholder groups in the Alpha-1 community is situated in a distinct location where Alpha-1 is enacted, or played out. This in cludes academic offices in medical departments such as pulmonary, hepatology, gastroentero logy, pathology, molecula r biology, radiology and biochemistry, social science departments su ch as bioethics, psychology, anthropology, epidemiology, and public health, respiratory thera py clinics, and different types of diagnostic, and clinical, research laboratories. The locations also include patient and scientific organizational offices, government offices, scientific conference s, policy workshops, national and international assemblies, print shops, website companies, pharmaceutical laboratories and factories, local patient support group meetings, regional patient educational days, legislative offices, doctors offices, and in the homes, and workplaces, of indi viduals diagnosed with Alpha-1. All of these locations, and the activities that occur in each place, together make up a picture of the culture, and world, of the Alpha-1 community. Alpha-1 is important to each of these stak eholders, and in each of these locations. However, I perceive the primary enactment of Alpha-1 as the body of an individual with the condition, and the experience of il lness. By emphasizing the centr ality of the lived experience, Alpha-1 may cease to be a disembodied enactment described primarily in biomedical or genetic terms. Path to Diagnosis and Treatment Using a schem a of Alpha-1 as centered in the pa tient, rather than fr om a medical point of view, I start with what happens first, the indivi duals experience of illness. The stories of lung affected Alphas usually begin with noticing increasing breathlessness, or chronic illness that seemed to increase in severity, and frequency, when the individual is in their forties.
51 BC (female, 57 years old): it felt like I was smothering to death. CD (female, 57 years old): I had had a couple bouts with pneumonia. They were really long lived illnesses. I remember the first time I think my doctor sent me for an x-ray in January but then I had to stay on antibiotics until June until the infection cleared. Then the following year I got pneumonia again. After I had the pneumonia I felt as though I never really recovered in the sense of breathing well again. Shortness of brea th continued on and never really improved, or not much. Finally, af ter a while, I agreed to see a pulmonologist. I was struggling and getting worse. It wasnt curiosity, I needed more treatment. This was when I was 45; I first had pneumonia at 37. Prior to that I was in that, Im ashamed I cant breathe mode. Thinking back to childhood, I realize I was very susceptible to all childhood illnesses, more than my siblings. Others remembered a turning point, when illness began to dominate their life: HI (female, 55 years old): I was in such bad shape; struggl ing to breathe, my heart going so hard. No treatment was working. I was taking lots of Prednisone, having exacerbation after exacerbation and bei ng hit with odors from perfume or hand cream. QR (male, 66 years old): I was a construction boss; it was my crew who noticed my wheezing. I hadnt realized how much my hea lth was deteriorating. After their comments, I began to notice how much difficulty I had wa lking upstairs or doing roof work, and when I couldnt get rid of a cold I finally went to the doctor. QR had gone for testing, and been diagnose d, after comments by her pharmacist, who noticed that in addition to high doses of medicine she was pallid, and often breathless. For several Alphas, however, the story began in their childhood. JK (male, 62 years old): I was ill throughout my childhoo d for me, the diagnosis was a relief because it represented a reasonable ex planation for some bad memories of childhood. I was home, stuck in bed when other kids were out playing. I really resented it. For the majority of Alphas, the story begins on a flight of stairs, when carrying bags of groceries, or on a bicycle, doubled over and fighting for breath, and progresses to an unwanted familiarity with their doctor, a hospital bed, and an array of medicines. But, the frequent bouts with pneumonia, the inability to control allergies, or COPD, or asthma, and the increasing feeling of breathlessness, led many to question their doc tors, and ask for a better answer about their condition. Pushing for better answers, and th e motivation to get a better handle on their condition, are for many Alphas the firs t steps toward empowerment.
52 Diagnosis is a milestone experience in the li fe of an Alpha, and the study participants seemed eager to relate stories about their diagnosis; unfortunately, almost half of those surveyed had seen a series of doctors before finally bei ng diagnosed correctly. For, even when a patient had heard of Alpha-1, being diagnosed was ofte n a long, drawn out, and frustrating process of trying to convince their primary physician, or pu lmonologist, to test them for Alpha-1. Others asked for the test but their physician either ha d not heard about it, t hought it too expensive or believed Alpha-1 was so rare that it probably was not the cause. KL (female, 57 years old): I felt let down when the chie f of the pulmonary department didnt know to test me [for Alpha-1]. FG (male, 58 years old): When I was 46 years old I sa w an allergist; I had sinus problems and had that surgery, but then my breathing got worse even though I was on an inhaler. I started getting sick in the morning and had some blood tests and was sent to a pulmonologist who diagnosed me with early stage COPD. The first 2 pulmonologists I saw didnt s eem to know what was going on. One I lost confidence in their knowledge they didnt s eem to know what my problem was. The 3rd did a liver enzyme test and followed me every 3 months. He sent me to a hepatologist. The GE [gastroenterologist] diagnosed me with AAT through a liver biopsy. The hepatologist told me I needed a liver tr ansplant in 3-5 years (this was when I was 47 years old). The summer after that I went to Dr. B [a recognized Alpha-1 expert] for a clinical trial of that sheep thing inhalant. Afte r the third visit Dr. B. told me to worry about my liver. The focus had shifted and my interest in the liver was elevated. My diagnosis came 2 years after first being seen for asthma. Such anecdotal evidence is common in the Alpha-1 community, and led to heightened awareness campaigns by Alpha-1 organizations di rected at primary physicians, pulmonologists, and allergists, and that recommended testing for sy mptomatic patients. This type of story also motivated Dr. Stoller, and colleagues, to conduc t several reviews of demographic data on Alpha1 patients, to establish the average length of tim e from first symptoms of illness until diagnosis. In their first review, Stoller, and colleagues, found it took an aver age of seven years for a correct diagnosis; however, in 2004, thei r second review found it took an average of four years to be
53 correctly diagnosed with Alpha-1 (Stoller et al ., 2004, 1998). The diminishing length of time to correct diagnosis may be attributed to the awar eness campaigns, the more regular inclusion of information on Alpha-1 in medical curricula, and the growing availabilit y, and ease, of testing, such as self-administered finger-prick tests, in the intervening years (F errarotti et al. 2007; Rodriguez et al. 2002; Costa et al. 2000). Unfortunately, Alphas problems do not end with diagnosis, for, once a primary physician has agreed to a blood test for Alpha-1, they frequently do not know how to interpret the results, or how to treat the conditi on (Stoller et al., 2004; Anonymous, 1989, 2003). In addition, almost half of the Alphas surveyed (15/34) were told by a primary physician, or pulmonologist unfamiliar with Alpha-1, that they would die within five years of their diagnosis, or be totally incapacitated, and on oxygen. This type of fatalistic slant on the diagnosis became the second component of negative diagnosis in study data. And, makes it understandable why many remembered their diagnosis as a death knell. After a diagnosis the majority of Alphas to ld of going through an emotional reaction ranging from fear, despair, and overwhelming conf usion to anger. Being told one has a fatal condition is hard to assimilate right away, a nd despite previous symptoms and unexplained illnesses, for most individuals it seemed to be unexpected news. HI (female, 55 years old): not at any point was I prepar ed for a catastrophe illness. LM (female, 52 years old): I went on a grieving trip. OP (female, 59 years old): I felt devastated, floati ng around in Neverland. NO (female, 67 years old): I felt instant isolation upon diagnosis. Many remarked on periods of denial, and refusa l to learn more about their condition; for these individuals not knowing was better than accepting th ey might die within five years, or be totally disabled, and on oxygen. Others faced familie s in denial (youre not really sick), or,
54 worse, family members who were indifferent. But for some individuals, diagnosis was just another stage in the frustrating process of finding an expert who could help them deal with their condition. After a diagnosis, each diagnosed individual f aces a key intersection in the process of empowerment either they have family suppor t AND become aware of re sources about Alpha-1, and experts in the field, or, they continue to feel overwhelmed by their diagnosis. Family support seems a vital component of empowerment, but w ithout access to resources, and experts, many Alphas continue to be (mis)treated by prim ary physicians, or specialists, unfamiliar with standards of care for Alpha-1. If, there is ac cess to resources, however, Alphas can find information that can positively impact the course of their treatment, a nd their feelings about being diagnosed. RS (male, 58 years old) was lucky to have neighbors, one of whom an anesthesiologist, another a pathologist, who knew about Alpha-1; ST (female) had a friend who worked in a hospital and recommended contactin g the pulmonary rehabilitation department for help; PP (female, 62 years old), went online, and immediately found webs ites about Alpha-1, and referrals to local resources and experts. But, for many Alphas, th e process takes l onger until they find the expertise, and help, needed to manage th eir condition, get on a tr ansplant list, or find social support. One key informant remembers the process of getting involved with the community: GH (male, 43 years old): I go to support group meetings once in a blue moon. Attend an education day? No, that was part of my denial I dont want to live in disease but in the solution. And, I didnt want to be stared at. But [going to an education day] not as bad as I thought. The second time it was beneficial I learned a lot, had a few laughs. I found out if there is something wrong there is someone I can call. The first time I went I t hought it would harm me but it didnt and I was amazed to see the variety of ages. One girl was only one year older than me, although others were much olde r; it gave me hope.
55 For liver affected Alphas, the process of di agnosing Alpha-1 may not be as difficult as it is for lung affected Alphas. This is particularly tr ue of the pediatric cases, as Alpha-1 is the third leading cause for liver transplantation in neona tes and children, and many more physicians, and liver specialists (gastroenterologi sts and hepatologists), are aware of the condition (Taddei et al. 2008; Teckman, 2007; Teckman and Li ndblad, 2006). Alpha-1 liver disease is classified as one of several unexplained, nonalcoholic liver diseases, and most pediatric liver physicians know to order a test for Alpha-1 when certain symp toms present (Teckman, 2007; Perlmutter, 2004). However, the process of identifying Alpha-1 in infants and children involves parents, and the emotional and physical burdens are different than when an indivi dual is dealing with their own health (McNeil et al. 1985a, b; Sveger et al 1999, 1997; Thelin et al. 1985a, b). One mother knew right away something was terribly wrong when her infants eyes turned bright yellow. However, her doctor knew to test the baby fo r liver conditions that may have caused the jaundice, and although he had not encountered th e rare condition previously, the infant was correctly diagnosed right away. Other parents ha ve noted they recognized problems when their child did not thrive (grow at the expected pace for a child that age), was listless, or had an unusually distended stomach; this usually o ccurred in young children, not infants. For many parents, a diagnosis of Alpha-1 in th eir child leads to year s of uncertainty and guilt would the condition clear up, would their child need a tr ansplant, would their child survive? Since, Alpha-1 is a recognized co-morbid ity with several other li ver diseases, for other parents a diagnosis of Alpha-1 is just one more piece of a complex puzzle of illnesses that make their child suffer. For these latter children, their early lives may c onsist of a series of surgeries and hospital visits; but for the majority of Al pha-1 children, transplantation is a viable, and effective, treatment for the condition, and in some cases, the condition clears up as they age
56 (Teckman, 2007; Teckman and Lindblad, 2006; Perl mutter, 2004). Although it is rarer, there are also adult liver-affected Alphas. For most of them, the diagnosis is associated with transplantation, but, in several cases I heard about, the diagno sis of Alpha-1 was obtained postmortem. During my years in the community, I met, and spent time with, several liver-affected Alphas, and Alpha parents/spouses, as when we exhibited at scientific liver conferences. This included two of the most active patient advocates in the Alpha-1 liver community, both widows of Alpha-1 patients. Although neither is Alpha-1, they were inspired by the deaths of their spouses to get involved with the community, a nd remain committed to increasing awareness of Alpha-1 diagnosis among all liver patients year s after their spouses deaths. One of these individuals spent many years building up a tele phone, and Internet-based, Childrens Liver Network that provides support, information, and referral to experts for parents with Alpha-1 children awaiting transplantati on. Another is a key employee of an Alpha-1 organization, and continues her leadership role in the Alpha-1 liv er community. For these individuals, care giving has an extended meaning, and helping those with Alpha-1 has become their mission in life, and a way to overcome the loss of their spouses. For both lung affected and liver affected Alphas, the process of diagnosis may figure prominently into how quickly they become empowered, and the individuals optimism, or pessimism, about survivability. As noted earlier, another key fact or seems to be the amount, and quality, of support available to a newly diagnosed individual. Unfortunately, for some Alpha-1 spouses and parents, the challenges they face, af ter a diagnosis of Alpha-1, proves too stressful for their particular family. I met three people in the course of the study, who had been deserted by their spouse, or divorced because of their diagnosis. One of these individuals I met while attending a patient convention her husband had simply been unable to cope with their
57 daughters diagnosis. But, she was accompanied by her mother, and spent time happily relating the process of discovery she and her physicians were going th rough, to understand more about Alpha-1, and treat her daughter properly. It se emed likely she would find the wider community support, information, and access to resources she n eeded to become fully empowered, despite her marital situation. However, I also know three Alphas who got married after their diagnosis for these Alphas, family support had been chosen with foresight, and was, in all three cases, willingly provided. Even though the experiences among those interviewed was so variable, family support became a useful characteristic to quantify for this study, and a reliable predictor of progress towards empowerment. However, si nce family support represents a range of experiences, it seems a fruitful topic to unpack in future studies. Ethnogr aphic interviews about family support can help to identify the specifi c components of such support that leads to empowerment. The centrality of the patient experience of illness may be the primary enactment, but there is a multiplicity of key enactments that cen ter on the condition Alpha-1. Once an individual becomes ill, and is diagnosed with Alpha-1, th e enactments begin to shift from the personal realm to the medical and scientific arenas. The second key enactment of Alpha-1 is, therefore, the medical office visit, and interactions with the doctor, nurse, and other medical staff. These interactions are described in de tail in Chapter 5, which is an an thropological linguistic analysis of the medical office visit. The third key enactment involves scientific res earch activities, and is described below. Research Setting The scientific enactments of Alpha-1 occur pr imarily in research laboratories (hereafter referred to as labs), that are pa rt of a worldwide network of res earchers in the field of Alpha-1 Antitrypsin Deficiency. This research network is a small, bounded community within the larger
58 biomedical and research communities, and, consists of approximately 275 researchers recognized, and funded, for their work since 1972 The majority of these researchers conduct research that may apply to Alpha-1, but a good number also investigate multiple phenomena that represent broader areas of science. A molecula r biologist, for example, may do research of Alpha-1 molecular processes, such as protein foldi ng, but this basic research is also applicable to Alzheimers Disease and other conditions (Carrell and Lomas, 1997) ; a pulmonologist may conduct research on Alpha-1, but also be involve d in Cystic Fibrosis (CF) research, lung inflammation, or COPD studies (Wilfond and Fo st, 1990; Sandford et al. 1999; Turino, 1991; Voelkel et al. 2007); or, a genetici st may be researching RNA transc ription, that uses Alpha-1 as the model, but, applies to a wider range of genetic conditions (Termine and Sifers, 2005). However, there are a few individuals worldwide who are known for their focus on, and dedication to, Alpha-1 research. Many of these i ndividuals have establis hed Alpha-1 Centers of Excellence. These centers are comprised of labs and offices at academic institutions, or hospitals, where the Alpha-1 experts have assembled research teams, conduct research studies and clinical trials, mentor the next generation of scientists, and publish extensively on th eir research. Most of these experts also treat patients, serve as advi sors to the patient orga nizations, assist with advocacy efforts at the State and Federal level, se rve as scientific reviewers and advisors for the National Institutes of Health (NIH) and US Food & Drug Admini stration (FDA), and lecture at patient and scientific conferences about their re search, and clinical care of Alpha-1 patients. During my years with the Alpha-1 Foundati on, I had the opportunity to visit many of these Alpha-1 Centers of Excellence in the Un ited States, and Europe, including labs in Cambridge, England, Dublin, Ireland, and in Sout h Carolina, North Carolina, New York, Texas, Oregon, Colorado, and Florida, in the United States. My reason for visiting was twofold to see
59 firsthand the progress at pr ograms funded by the Alpha-1 Foundation, and to write lay descriptions of the processes I witnessed as a way to help the patient community understand progress in Alpha-1 research. My experience was often overwhelming the labs themselves are labyrinths of equipment and computers, and the processes explained to me were complex and time-consuming, and expressed almost entirely in biotechnical terms. But, it is this very complexity that needs explaining, and, given the amount of community feedback on this topic, I think it critical to convey why it is taking so long to find a cure for the condition, and why some of the research seems to have little to do with finding specific therapies for patients. Many study participants expressed similar fr ustrations about the time lag between a researchers statement of progress, and the leng th of time until patients receive a new therapy or a cure for their condition. Others went further an d expressed a desire to be part of the research process: MN (female, 60 years old): Patients should have some voice [in prioritizing research], the funding process is flawed. PQ (male, 57 years old): Research is a two-way stre et and communication [between researcher and patient] s hould be a two-way street MM (female, 45 years old): Who decides between future needs and pressing needs? Understanding the length, and complexity, of scientific processes may address some of the miscommunications related to research pr ogress, and priorities, in the community. So, although I often find the explanations go we ll beyond my current understanding of biology, I continue to read scientific articles, visit labs, interview lab personnel, as k lots of questions, and work at accurate lay descriptions of the research being done in Alpha-1. Over many years, I have come to understand enough of the basic processes to describe some of them in this chapter; however, my understanding is as a lay person, and my interest remains centered on the social
60 characteristics of laboratory cu lture, and the physicality of la b procedures, rather than the scientific basis of the bi otechnical processes. Laboratory culture I am most familiar with the activities of one pa rticular Alpha-1 center, and have visited this lab many times over a period of 9 years. During my visits, I have been show n processes, such as nephlometry, gene scanning, tissue banking, and genotyping, but as an anthropologist, I found the culture of the lab equally interesting. Laboratory culture is strictly hierarchal, and based on academic credentials. The lead researcher, known as the Principle Investigator (P I), is at the top of the pyramid, and has at a minimum a medical degree (MD), an MD/PhD, a pharmacy degree (PharmD), or a Doctor of Nursing Science (DNSc). The PI applies for re search funding many times throughout the year, and, when funded, is able to hire administrativ e and technical staff to conduct the research projects and clinical trials. Ther e were often as many as 30 people working in the lab, all of them dependent on the skill of the PI to obtain fundi ng, and direct their research. The lab manager is usually either a clinical nurse, or is in possessi on of a Masters degree in a scientific discipline. Nurses, lab technicians, administ rative staff, and database staff are the other members of the hierarchy, each with precisely defined responsibilities, designated au thority, and appropriate credentials for their job. In this one particular lab, the infrastructure, and interactions, is precisely defined in writing, and there are shelves of St andard Operating Procedures (SOPs) binders in each office and lab. The lab must demonstrat e compliance with these standa rds, and with a variety of supervisory entities. This includes compliance w ith University regulations and procedures, such as hiring and firing, Internal Review Board (IRB) requirements, and purchasing procedures; State and Federal regulations of laboratory procedures, clean liness, safety, and security;
61 legislative regulations, like HIPAA (Health Insura nce Portability and Protection Act), that cover use of human subjects in research and confidentiality; the legal re quirements of grant contracts, and research agreements, with funding agen cies, pharmaceutical companies, and private organizations. When someone joins the staff in this lab, th ey go through a series of orientations; this includes University staff orient ation, certification classes for e ach procedure in the lab, and instruction in the handling of equipment. New staff, in this particular lab, must also sign a confidentiality agreement that covers both the identity of patients, and procedures used in the lab. This lab is among the few in the world that identifies rare Alpha1 alleles (phenotypic variants), and it has the largest standard of rare alleles in th e world, over 100 variants. The lab conducts not only the basic blood level diagnost ic procedure, but also genotypes, and phenotypes, blood samples for a precise diagnosis. Other activities conducted at this lab include, tissue banking, Bronchial Alveolar Lavage (BAL) re search, clinical trials on new drugs, research studies of lung inflammation and the genetic characteristics of Al pha-1, and the development of an Alpha-1 liver cell line, that is shared with Alpha-1 researchers worldwide. There are 6 distinct teams among the staff in the lab, although some employees serve on more than one team. The teams include, a quality a ssurance team that receive s, and records, each sample, an evaluative sample, or quality control, team that prepares each sample for testing, a diagnostic team that tests, and reports on all sample s, a database team that enters data from the test reports, a reporting team th at communicates with physicians, and patients, about the test results, and the supervisory team, comprised of the PI and lab manager, who ensure the quality of all data from the lab. All em ployees participate in multiple meetings: every Monday morning a general lab meeting is held to discuss progress, plan the weekly activities, and deal with any
62 personnel issues. In addition, a clinical detection meeting is held each week, and each team has its own meetings to discuss the specifics of that teams activities. This lab also holds several annual parties, as well as monthly birthday part ies for staff during office hours. Unlike offices where everyone stops working and gathers to si ng happy birthday and eat cake, in the lab people drift by in between lab procedures to get a piece of cake. The priority of timed experiments takes precedence over socializing. The annu al parties, on the other hand, ar e held outside of work. The summer party is usually held on a Sunday, at the PIs home, with a barbecue, and swimming. The winter party is held in a re staurant, the PIs home, or the home of another staff member, and is a potlatch dinner. Since, the lab personnel come from countries around the world, this dinner is an ethnic treat, and typically includes Russian, Spanish, Middle Eastern, and Chinese dishes. The research team is treated at all times like a family. The lab manager remarked that professionalism and getting along leads to productiv ity and I agree the conviviality in this lab seems to serve a useful purpose, a nd helps make for a dedicated staff. In fact, during each visit to this lab, I had noted the amount of conversation and interaction between the lab staff, interspersed wi th highly concentrated ac tivities with equipment and samples. It occurred to me that the popular image of the lone sc ientist bent over their microscope was just that, an image. And, when I queried the lab manager about the ideal characteristics of a lab technician, he agreed wi th my assessment, and noted they discouraged the solitary worker. The qualities he looked for wh en interviewing new staff were common sense, instincts, and organization (which includes accuracy and precision). He also noted, that the PI had always told him to hire minds not hands for the lab work. This statement seemed to recognize the value of each empl oyee to contribute to the resear ch. Perhaps, it is the overt valuation of staff that makes this lab such a c onducive, and productive, environment for research.
63 My final observation relates to the potential for empowerment among the researchers in the Alpha-1 community. A key characteristic I ha d noted in this Alpha-1 lab was the amount of interaction with patients. Lab staff regularly pa rticipate in patient education days, where they meet many diagnosed Alphas, and their families; la b staff also frequently assist in recruitment efforts for research studies, which also brings th em into contact with the patient community. But, in addition, patients and donors are given the opportunity to visit many of the Alpha-1 labs, take conducted tours of the pharmaceutic al production facilities, or atte nd scientific conferences, and advisory meetings, organized by the Alpha-1 orga nizations. One scientist noted, after his first Alpha-1 scientific conference that having the pa tients attend put a face on the disease and ultimately made his laboratory research much mo re meaningful (Carrell pers. comm.... 2000). Scientific procedures My observations in a laboratory, and interviews of lab technicians, are usually prefaced by a review of the type of research being conduc ted in that lab. One gr oup, based in a pathology departm ent of a large teaching hospital, had prop osed the following descri ption, in one of their research studies: The immediate goal within the context of this proposal is to incorporate the use of stablytransfected cells that express natural and gene tically engineered human alpha-1-antitrypsin variants for the molecular, biochemical and ul trastructural analysis of this degradative pathway. (Termine and Sifers, 2005). This particular research team has been studying the degradation pathway in the endoplasmic reticulum, in the liver, where the AAT is processed before passing into the bloodstream. Through biochemical analyses, this research team had established that cell signaling sets off a chain of chemical reactions th at lead to cell death, and the disposal of the misformed AAT proteins. Each of this research teams sequential experiments sought to describe a particular stage in the complex chain of processes of cell signaling, biochemical degrading of
64 cells leading to cell death, and disposal of dead cell material. The majority of studies in this particular lab use Alpha-1 as the model for de scribing degradative processes. Although, I had had many conversations through the years with the PI of this laboratory, and a basic understanding of the aims of this type of research, I sought perm ission to interview a laboratory technician on the project, for a greater understanding of the specific tec hniques used to achieve their aims. Before giving me permission, the PI stressed the fact that many of the processes, and materials, used in their lab ar e proprietary, and had been devel oped by him as the only way to answer the research questions being asked. This PI is one of my better fr iends in the community, and had often told me stories of another well -known researcher who stole his ideas, and processes, and then took credit for the ideas. Because of these experien ces, this particular laboratory maintains levels of secrecy that may be unusually high. I believe I was given access to the secret procedures, and materials, based on two factors the PI knows I can be trusted to be discrete, and he knows I understand details of the biological and technica l explanations only in general terms, and despite my pa ges of notes, would not be able to divulge critical information about specific reagents, or the sequence of processes. I arranged to interview the pr incipal lab technician over th e phone. I began the interview by noting that many of the terms used in the laboratory were familiar to me, but that I still did not know exactly how these terms ar e enacted. I asked the lab t echnician to describe, as an example, how one transfects a cell. DT: Thats a process that takes a few days to complete. SF: What do you do first? DT: Well, I start by taking some DNA from em bryonic kidney cells and coating it with a specific reagent.
65 SF: Where do the embryonic kidney cells come from, and where do you get the specific reagents? DT: The embryonic cells were developed by the PI, and the reagents are purchased from a pharmaceutical company. Next I put the cells in a 10 cm petri dish and incubate in a freezer at 37 F degrees for 5 hours. SF: How can you incubate something in a freezer? DT: Well, in science inc ubate connotes growth. SF: Oh, its not like how we associate it [in lay terms] with warmth, like chicks hatching? DT: No! (laughs). After 5 hours, I remove the media. SF: Whats that? DT: The reagent used in the first step. So, I re move it with a pipette, replace it with fresh media and put it back in the freezer overnight. SF: What does it look like at that point? What color is it? DT: The media is red with white flec ks, [pause] I was never asked that. I was aware that for the technician each te rm represents a complex biotechnical process that is packaged, or summed up, by a single word or phrase. I had to keep reminding him that I did not know what simple terms like expressing ge nes looked like in a lab, or what it involved in terms of time and effort. SF: What do you do for the 5 hours when the material was incubating? DT: I work on several different experiments and, like the other technicians in the lab, Im working on different procedures throughout the day. Next I perform a pulse chase, or metabolic radio labeling. In this step, I add a radioactive label to the clear liquid on the petri dish. This radioactive label gives off a particular wave length which lets me follow the progression of the labeled protein throughout th e series of processes in this experiment. After the pulse chase phase, I harvest the plat es, and add a neutral buffer with detergent. The buffer helps to break down the membranes in the cells. Then there are several more incubations at different temp eratures and for different times (after 30 minutes, and 60 minutes on ice). The buffer had been added to make the cells rupt ure, which in turn allows the isolation of the protein of interest, in this case Alpha-1 Antitrypsin (AAT). After isolating the AAT, I put the material in a tube and spin it slowly on a rotator in a 4 degr ee incubator. I add an
66 antibody for AAT, made from rabbits, to the mi xture. This antibody creates a slurry-like mixture where the protei n binds to the antibody. SF: Why keep incubating, how do you know if the process worked? DT: The cells are happy. I mean they grow and proliferate; they thrive and do what they need to do. The vocabulary seemed to be anthropomor phizing the chemical reactions, but the technician became self-conscious when I noted th e use of the word happy, and although I assured him that it was an interesting, and useful, remark, he seemed abashed that he had expressed something so unscientifically. DT: After creating the slurry, I put the material in a centrifuge and spin it down, and the heavier cells go to the bottom. I then suck off the liquid at the top. The cells at the bottom of the centrifuge are then washed with a salt concentration buffer to get rid of the background. At this point the interview ha d already lasted over 45 minutes and we were barely through the first technical term in the research descrip tion, so I did not stop and ask him to explain the term background. DT: After the salt buffer is added, which we call a disruption buffer, the AAT protein is released from the antibody mixture. I then remove a portion of the released AAT with a pipette, and load it onto a pol ychromatic gel 14 tall and 14 wide. I apply a specified amount of voltage to this gel, which causes linear patterns. SF: Why does it form patterns? DT: Proteins have a negative charge and are at tracted to the positive charge in the gel. They flow down the gel at different rates a nd a pattern emerges. After that, I place the gel in an acid buffer and gel dryer machine for 2 hours to enhance the signal of the radioactive protein. We also us e an x-ray film on top of the gel, which also gives off a radioactive signal, which forms an image of a band. The darker bands signify intensity. The final step is to compare the molecular weight of the AAT with standard degradation rates. Transfection seems a long drawn out process for isolating and wei ghing the AAT protein, but, is just the first of several biochemical proces ses, each lasting several days or weeks, that are performed to achieve the aims of the project. More over, the aim of the research project is not to
67 produce transfected cells but, to use them to anal yze the molecular, biochemical, and structural processes involved in a degrada tive pathway. Given the number of steps and time involved just to prepare the basic materials for the experiment, it began to make sense to me why research of this type requires a series of two year projects Each step of the process has to be carefully documented, measured, and reproduced, and the results need to use consistent, and well established, measurements for the data to be meaningful. In add ition, laboratories must constantly calibrate their equipment, and test their experimental result s, against established standards. Length of time, however, is not the only i ssue patients have with research. A primary concern that many patients and their families expressed was what does basic scientific research have to do with my breathing problem, or my surv ivability after transplantation? One answer is that by conducting a basic scientific experiment, this particular PI is more likely to receive funding, as the research is applicable to a number of disease states, not just to Alpha-1, a rare condition. But, the answers the PI is seeking ARE applicable to Alpha-1, and, by framing his research in broader scientific terms, he is more likely to receive ongoing funding, and generate translational results that will benefit the Alpha-1 community. By translational I mean that his basic science experiments, and a fuller unders tanding of the degradative process, has the potential to lead to, or translat e into, therapeutic approaches that target the liver, but, that will address both the liver and lung conditi ons associated with Alpha-1. The Alpha-1 Community Three highly successful organizations we re founded by Alphas in the 1980s, and 1990s: the Alpha-1 Foundation (Foundation), the Alpha-1 Association (Association) and AlphaNet. Each of these organizations has a distinct, but complem entary, mission. The Alpha-1 Foundation provides support for research, the Alpha-1 A ssociation provides support, and education, for
68 Alphas nationwide, and, AlphaNet provides low cost drug distribut ion and disease management. Together with the physicians, nurses, and othe r health professionals who care for Alpha-1 individuals, these three organiza tions, and the thousands of Alphas they represent, comprise the Alpha-1 community. Alpha-1 Organizations: Models of Entrepreneurship In the 1990s, Alphas around the United States began to organize local and regional support networks for them selves, and their families, and founded the Alpha-1 Association. This organizations primary mission is to provide support to patients, information about Alpha-1, and to unify common concerns into advocacy effort s. The Association holds regional educational days throughout the United States, and an a nnual educational conference (the 2008 conference had over 350 attendees). The Association also focuses on advocacy efforts in Washington, D.C., and maintains a website with downloadable re sources for patients, family members, and caregivers ( www.alpha1.org). The m ore prescient of the pati ents involved with the Associat ion recognized needs that go beyond patient support, such as the importance of funding research of Alpha-1, and the need for a strong organizational infrastructure to support such research. These patients recognized the potential for Alphas to contribute to their quality of life, and even their own cure, by supporting research, becoming more informed about Alpha1, and interacting closely with the research community towards finding a cure (Stoller, 2000, Ki cklighter and Sharp, 2005; Sharp and Foster, 2007, 2006, 2002; Yarborough and Sharp 2007). A number of Alphas had part icipated in NIH studies of Alpha-1, and, based on this experience, identified their mission, or goal, as fi nding a cure for Alpha-1. This goal led to the establishment of two other Alpha-1 organi zations, the Alpha-1 Foundation and AlphaNet.
69 The history of these organizations began in late 1994. Following an Association board meeting, some of the members met to discuss an innovative idea to create a not-for-profit organization governed by Alpha-1 patients, a nd employing patients to care for other Alpha-1 patients. Their motto was, and is, Alphas serv ing Alphas. The board members involved in this discussion envisioned the profits derived from an Alpha-1 care network, as a means of supporting Alpha-1 research. By the summer of 1995, three Alphas, John W. Walsh, Susan Stanley, and Sandy Lindsey, had established two separate, not-for-profit organizations, the Alpha-1 Foundation and AlphaNet. The Foundation was established to focus on stimulating research, and AlphaNet to fund the research. Jo hn Walsh had set up a relationship with two local pharmacies, that allowed AlphaNet to dispense th e only available therapy for Alpha-1, Prolastin. Relationships with other pharmacies were establ ished, and diagnosed Alphas were trained as coordinators to serve wide geographic networ ks of Alpha-1 patients. By 1999, Bayer (now Talecris Biologics, Inc.) established a direct distribution program with AlphaNet. The direct distribution model allocates product directly to the patient, and according to Robert C. Barrett, the CEO of AlphaNet, represented the singl e most important business breakthrough [that] spurred [AlphaNets] dramatic growth. Al phaNet is a highly successful business operation, contributing an average of $2 million per year to the Alpha-1 Foundations research efforts, with a total contribution of $18 million in ten years ( www.alphaone.org ; www.alphanet.org ). Research Network One of the first comm unity-wide research programs developed by the Foundation was a Research Registry. The NIH had compiled a registry of Alpha patients, but by 1996 their program was nearing completion (The Alpha-1 Research Registry Study Group 1998; Baker et al. 2002; Eden et al. 2003; McEl vaney et al. 1997; Strange et al. 2004, 2006; Turino et al. 1996). James Stocks, a researcher involved in the NI H project, remembered how it became clear that
70 future Alpha-1 drug investigations would requ ire maintenance of the professional expertise represented by the 37 Registry si tes, as well as a cohort of Al pha-1 patients. The Alpha-1 Foundation made a commitment to continue this important research network, and established the Alpha-1 Research Registry at the University of Miami, School of Epidemiology and Public Health (Fleming et al. 2001; Stolle r et al. 2000). The Registry is currently housed at the Medical University of South Carolina, and number s over 3,298 enrollees (Figure 2-1). Enrollment statistics (Figure 2-2) are a clea r demonstration of the effectiveness of the infrastructure of the Alpha-1 community, and how each organizatio n serves the missions of the other two organizations. The Registry prov ides Alphas the opportunity to participate in research, but, it also serves the scientific co mmunity, providing demographic a nd medical data on Alphas for analysis, and a large enough cohort for statistically significant survey results (Strange et al. 2004, 2006; Baker et al. 2002). Over 25 research studies have utilized the Registry cohort, or data, since 1998, including this doctoral research. Other research programs were establishe d by the Foundation since 1998, and include a DNA and Tissue Bank, a Coded Testing Study, that pr ovides confidential testing for Alpha-1, a national detection program that targets sympto matic lung and liver patients, a formalized network of Clinical Resource Centers, a peer-rev iewed grants program, a nd a cadre of advisory groups led by the Medical and Scientific A dvisory Committee, known by its acronym, MASAC. The MASAC is an advisory body comprised of th e leading experts in th e various disciplines related to Alpha-1, and includes physicians who trea t lung and liver patients, researchers, nurses, bioethicists, lawyers, epidemiologists, and im portantly, patient representatives. The MASAC meets twice a year to deliberate pressing i ssues in the community, and to make specific recommendations to the Board of the Alpha-1 Foundation.
71 The Foundation also established a number of working groups, including an Educational Materials Working Group that prepares, and va lidates, printed materi als about Alpha-1, an Ethical, Legal and Social Issues (ELSI) worki ng group that considers th e ethical, legal, and social issues in the community, an Epidemiol ogy/Registry working group, and the newly formed Transplant Issues and Public Policy Worki ng Groups. The Chairs of the Working Groups are members of the MASAC, and provide individua l recommendations, and action items, to the MASAC to consider, before passing on these reco mmendations to the Board of Directors. My role at the Alpha-1 Foundati on was to staff all of the advisory committees, assist with the development of protocols for the research programs, and prepare the written reports, recommendations, and policy initiatives for the Board of Directors meetings. I was also responsible for providing program templates a nd start up information on the Registry, Tissue Bank, and Grants Program to other rare disease groups, for them to use in developing their own research infrastructures. It is a badge of honor among both the scientists, and the patients to be appointed for a twoyear term on the MASAC. The meetings are genera lly held in five-star hotels in Miami, where the Foundation is based, and although they are fa st-paced and productive meetings, they also include a strong element of socializing among the organizational staff, patient leaders in the community, and the scientific network. Dr. Stolle r, former Chair of MASAC, wrote an article about the importance of th e Foundations advisory committees, in which he noted, Communication is the element that holds disparate parts of the commun ity together (Stoller, 2005). The interaction and convivial ity of the biannual meetings ha s clearly helped maintain the commitment of the scientific community, and a sense among the individuals who serve on the Foundations advisory bodies that promote, I know that I am making a difference (Stoller,
72 2005). In addition, the contacts between the Alph a community and the scientific network at scientific meetings, in laboratories, during c linical trials, at the MASAC and working group meetings, have given the scientis ts a better sense of the role patients play in advancing Alpha-1 research. James Stocks, one of the original NIH Alpha-1 researchers and an active member of the Alpha-1 community, articulated a the common at titude among the physicians and researchers when referring to progr ess in the community, Clinical investigators have us ed the resources of the Foundati ons Research Registry (for clinical trials). But even more critical have been the Alphas themselves. They have stepped forward and volunteered from across the cont inent and subjected themselves to longdistance travel, numerous medical exams, and procedures like bronchoscopy and liver biopsies. Some singular few have even vol unteered for multiple studies, their only compensation being thanks. I have long held these volunteers to be heroic examples of our Alpha-1 community. (Alpha-1: A Ten Year Retrospective, 2005). Other researchers have remarked on the c ourage, and commitment, of the patient community in their interviews, and in their ar ticles for the Foundations 10 year retrospective publication. Dr. Brantly has been particularly complimentary, and encouraging, to the patients he knows. In his article for the Foundation s 10 year retrospective he noted, None of the (Alpha-1) cente rs programs would be possi ble without the courage and sacrifice of Alphas everywhere. The research ce nter belongs to them. Their active, willing participation makes the ongoing search for a cure possible and makes my work so rewarding. (Alpha-1: A Ten Year Retrospective, 2005). Alphas have, in turn, often expressed thei r appreciation for the commitment of the scientists to their cause. One grateful transplant recipient wrote a book about his experience, entitled, Heroes of My Transplant (Russell, 2001); others have expressed their appreciation by donating to research, raising funds for research, or expressing th eir thanks through awards for, and recognition of, individual rese archers. There is a great deal of mutual respect and admiration flowing between stakeholders in the comm unity, which over time has strengthened other stakeholders, and promoted a sense of purpose, and accomplishment, that all share in.
73 Public Policy A key element in the success of the Alpha -1 community is its advocacy program. In 1998, following a shortage of Prolastin (which is a drug one injects into the bloodstream), John Walsh was appointed to the Presidents Counc il on Blood Safety and Availability. At these meetings, he met Miriam ODay, wh o, at that time, served as a pr ofessional lobbyist for another rare disease organization. She is knowledgeable about Beltway politics, a ppropriately aggressive, and has carved out a niche, among the rare diseas e communities, as an effective professional and advocate. John recruited Miriam to work as Public Policy Director for the Alpha-1 Foundation, and Alpha-1 Association, positions she holds to this day. Among the many successes achieved by the community, under Miriams tutelage, are Medicare and Medicaid carve-out s for Alpha-1 therapy, a voluntar y blood safety program, that notifies patients immediately when blood-de rived products are withdrawn or recalled, legislatively-mandated funding for Alpha-1 resear ch at the NIH, creat ion of a Congressional committee on COPD and Alpha-1, and, more recently, a concerted e ffort to convince the FAA to allow use of portable oxygen contai ners on commercial airlines. Miriam accomplished the Medicaid carve-out by organizing grass-roots efforts in 2002, and again in 2003, to lobby Congress to recognize augmentation th erapy under a special category of orphan drugs. Her efforts incl uded organizing patient groups to visit Congressmen, rehearsing with the scientists who would provide testimony on the issues in Washington, and drafting the language used by Congress to create the carv e-out. By rallying community members to a common cause, Miriam resolved a major barrier to access to care for hundreds of eligible Alphas. She should be proud of her achievement s in the public policy arena, but, like many others associated with the Alpha-1 communit y, expressed her personal accomplishments in relation to the goals of the community:
74 I feel profoundly grateful to John Wa lsh and the Foundation for giving me the opportunity to work in a dream job. As one of its many rewards, Ive learned that one person really can make a difference. (A lpha-1: A Ten Year Retrospective, 2005). Vision for the Future On the ten year anniversary of the founding of the Alpha-1 organiza tions, leaders in the community published a retrospec tive report. This publication in cludes chapters on the founding of the organizations, the for mation of medical and sc ientific advisory groups, clinical research in the community, public policy efforts, descriptions of scientific and patient meetings, and key patient related resources, like disease management and drug distribution. E ach chapter is written by the person who developed that aspect of th e Alpha-1 infrastructure, and is a remarkable record of achievements, and progress. It is also a highly personal set of accounts, and demonstrates the level of commitment and de dication to a common cau se that exists among Alpha-1 community members. The Alpha-1 retrospect begins, fittingly, with A Vision for the Ne xt Decade written by John W. Walsh. John is a very visible Alpha-1 lead er he serves as President and CEO of the Alpha-1 Foundation, is President of the CO PD Foundation, and was a co-founder of both AlphaNet and the two Foundations. He has been Pres ident of the National He alth Council, been recognized by the FDA for his ro le in accelerating drug development for Alpha-1, and currently serves on the Public Advisory Committees of the American Thoracic Society, and the National Institutes of Health. John is an Alpha, as is hi s twin brother Fred, and two other siblings in his family. Since 1999, I have worked closely with John, and ha ve come to appreciate the extent of his leadership abilities, and his charisma. Many time, I observed his ability to grasp the implications of various types of research, a nd to negotiate at the highest levels of government, and industry, on behalf of the Alpha-1 communit y. He, and his wife, Diane, remain instrumental in the success
75 of the community and, in the opini on of many of us, are the driving force that keeps scientific, government, and industry leaders committed to finding a cure for Alpha-1. One board member wrote about the early da ys of the Foundation when some [board] members had a truly ambitious, entrepreneurial vision and a sense of urgency. Others saw the need to move at a more deliberate, methodical pace. The comment about ambition and entrepreneurial vision was obviously referring to John, who, according to hi s sister-in-law, Pam Walsh, has always driven in th e fast lane (Pers. Comm., 2006). In his essay John notes the accomplishments of the first 10 years, and his vision for the future of the Alpha-1 community. In just ten years, weve created a research infrastructure, including the Alpha-1 Research Registry, DNA and Tissue Bank, Alpha-1 Research Program at the University of Florida, and an extensive Clinical Resource Network around the country to support the international investigator community. Weve forged strategic partnerships with the American Thoracic Society, American Association for the Study of Liver Diseases the Genetic Alliance, the National Health Council, FasterCures, the American Asso ciation for Respiratory Care, and other professional organizations and patient gr oups. Weve piqued th e interest of the pharmaceutical industry to develop new tr eatments; weve brought industry regulators together with government regulators to make those treatments available faster. And weve worked with Congress and the Centers for Di sease Control to launc h a National Targeted Detection Program for Alpha-1. The article is also an excellent articulation of empowerment in Alpha-1: Some things about the Alpha-1 community wont change in the coming decade namely, its unity and sense of purpose. By rallyi ng to the Alpha-1 Foundation and AlphaNet over the last decade, we Alphas have demonstrated our commitment to taking our destiny into our own hands. Not content to sit by passively, weve found a wa y to come together, apply our collective effort and imagination, and s upport pioneering research, even as we support one another. It is hard to convey just how central, and important, John is to the Alpha-1 community, and how much of the successes through the years have depended on his vision. He has demonstrated remarkable business savvy, which has enable d large amounts of research funding to be
76 generated. And, he is primarily responsible for creating the strategic alliances among the stakeholders in the community, and with governme nt, industry, and donors. He is a true leader. The only problem, for me, in researching empower ment has been to recognize the uniqueness of Johns attributes. When I first went out into the community, and met other Alphas, I was surprised how little some of th em knew, until I realized I was comparing everyone to John. This realization altered my thinking a bout empowerment, and I began to conceive of empowerment as an evolution, or staged process. This concep tion of empowerment, as an evolution, would more accurately reflect the forms of empowerment i ndividual Alphas could achieve on the personal level, as well as the community-wide, or stru ctural forms of empowerme nt so well exemplified by John, and a few other Alpha leaders. My hypoth eses about stages of empowerment, and the qualitative differences in organizational leader s, thus grew out of my recognition of the important, but unique, role John ha s played in the community. Anthropological Research in the Community The current Alpha-1 research network consis ts of over 50 academ ic and medical centers representing various geographic regions in Nort h America, and the local patient support groups that grew up in association with many of these centers. Membership in the Alpha-1 community has, thus, been formalized, first through the NIH program, then through the Alpha-1 network, as enrollment in the Registry, and participati on in research. This emphasis on research, and enrollment in a Registry, differs significantly from the looser, less formal membership in patient organizations such as the American Heart Asso ciation, the American Lung Association, and the March of Dimes, or among disease specific co mmunities like Cystic Fibrosis, or Muscular Dystrophy. Membership in these other organiza tions involves signing up to receive mailed or emailed information, sometimes involves paying annual dues, and frequently includes access to either medical professionals, he alth educators, or other patients for information or patient
77 support. However, membership in these other organizations may not involve participation in any type of research, membership in a formalized ne twork of centers of excellence, or an increased sense of identity as a particular type of pa tient. Membership in the Alpha-1 community, in contrast to other disease community networks, connot es a greater role in research, or at least a familiarity with the parameters of research. There have been numerous opportunities for di agnosed Alphas, and their family members, to participate in research studies and clinical trials, and many ava il themselves of the invitations to participate that are periodically sent to enro llees in the Alpha-1 Rese arch Registry. However, this very familiarity with biomedical research le d to an initial uncertainty among participants in the patient empowerment study as to their role, an d my expectations as a researcher. They were not being asked to give blood, undergo a lung lavage2, have liver cells removed with a scary looking 8 inch probe (Zern, Pers. Comm., 2001), or even answer fixed questions on a survey. Instead, they were given a free dom of expression about their own experience that some found intimidating, and others found liberating. The format of the focus group sessions was design ed to elicit narratives, rather than short, or yes-no answers to questions. Two of the sessions were held in an Alphas home and two were held in hotel meeting rooms. In the two home-b ased sessions, my Alpha host and I prepared a buffet meal, and everyone who attended helped themselves to lunch, and sat around a dining table while we held our discus sion. The sessions held in hotels also involved luncheon, but despite the more formal aspect of a public venue, I st rove to create as casual and inviting an atmosphere as possible. In each session, for example, considerable time was spent on introductions, catching up with former acquainta nces, and sharing illness stories and, likewise, 2 a washing out of lung tissue for microscopic investigation of inflammatory cells and other biomarkers of disease progression
78 concluded with long, drawn-out farewells, excha nge of telephone and email information, and more socializing. I allowed time for this phatic communication as it was ve ry revealing of the attitudes, psychological and physic al states, and level of involve ment of the participants in previous research studies. I chose not to tape the sessions, as passi ng around a microphone would have created a more structured discussion, with formal turn -taking, and a beginning and end to each persons comments. Instead, I encouraged an open ended discussion, without form al turn-taking, which resulted in conversations that flowed between participants, an d that included many overlapping comments. Because I did not insist on staying cent ral to the discussion, ma ny of the participants remarks were directed to each othe r, rather than at me. This in teraction allowed me to observe variation in the levels of awar eness between participants, and in sight into how support is sought, and provided, between Alphas or betw een caregivers. It also allowe d the participants to set the tone of the conversation, and in troduce and expound on topics of interest, and relevance, to their experience as Alphas and careg ivers. Although I had IRB-appr oved sample questions, and topics, to cover in the session, on ce the conversation had begun, I rare ly had to refer back to my original questions. I did, how ever, ask the group to help me summarize our discussion, and overtly took notes of the final li st of topics that the group felt important to include. I had also taken notes throughout the session of individual remarks, and demographic information on the participants. Many participants in the first focus group sessio n initially hesitated about giving more than a one sentence answer. They were clearly used to the fixed question and answer format of survey questionnaires, and unaccustomed to elaborating on their experience. My research seemed to be one of the first times that Alphas were asked about their emotional response s, the details of how
79 Alpha-1 impacted their work and home life, or about the creation of a new selfhood through their diagnosis and illness experience. By inviting elab oration on topics that were novel, or had only been explored as yes/no questions on previous questionnaires in the community, participants in the study were able to explore individually, and as a group, how their condition impacted family members (who were often present during the fo cus group sessions, and who provided their own point of view); the ways in whic h disability is defined; and th e manner is which self of the impaired person is preserved by fa mily members (Rubinstein, 1995). Based on the experience at the first fo cus group session, subsequent sessions, and interviews, were prefaced with an overview about anthropologica l research, and explanation of how it differed from the quantitative approaches used in biomedical, and epidemiological, studies. I opined, during these expl anatory remarks, that biomedical research was not necessarily attuned to the lives participants lived as Alpha s, nor did biomedical re search explore social issues, or peoples own concerns. Participants were encouraged to share experiences in their own voices, and from their own unique perspectiv es (Rubinstein, 1995; Colby, 1966). Although the value of qualitative research wa s not overtly discussed, there was an emphasis on the lived experience of participants, rather than on a st atistical analysis of their yes-no answers to questions, or measures of their biological samples. The qualita tive approach in this study was also used as an overt attempt to re-introduce the importance of the social components of illness experience in Alpha-1, which have been increasingly overshadowed by the dominance of a biomedical focus (Rubinstein, 1995). Before each focus group session, or interview, an appeal was made to participants to assist in defining the parameters of the study itself, and to help define empowerment, and its components, emically, which was defined as fro m your unique perspective. I had discussed my
80 motives, and introductory remarks, with each Alpha host, and welcomed th eir reiteration of my study purpose in lay terms. This approach was enti rely new to participants who were used to the scientists total control of the conduct of intervie ws, the definitions used in their studies, and the framing of experience in biomedical terms. The idea of developing their own understanding of the purpose of the research, and helping to create a definition of empowerment through community participation was novel, but not unwel come. Many of the Alphas in the sessions had opinions about what was important about thei r condition that had not been addressed in scientific, or epidemiologic, studies. Access: Hiring-In and Pa rtic ipant Observation This study is based on more than nine years of involvement with, and close observation of, the Alpha-1 community. This involve ment, or hiring in, included si x years as Director, Research and Grants Programs, and three years as a Rese arch Consultant for the Alpha-1 Foundation. Hiring in is a recognized position for an anthropologist to assu me, and can provide a level of familiarity that supports a more accurate asse ssment of the particular domain (or community) under study (Downey and Dumit, 1997). In my position at the Alpha-1 Foundation, I was responsible for managing, and expa nding, the research network, a nd regularly interacting with Alpha-1 researchers, industry partners, govern ment officials, lobbyist s, and organizational leaders from other disease communities. I had some contact with the patients in the community, but, the focus of my job was to provide research resources and maintain contact among scientists, and clinicians, work ing in the field of Alpha-1. This hiring in experience gave me insight, a nd access, that would not have been possible through participant observation alone, and I was ab le, through my position, to evolve from being an outsider in the Alpha-1 community to being an insider (Keith, 1980). My employment also enabled me to reach a stage where data collecti on was refined to an investigation of specific
81 areas of interest, and I was able to give an increased personal attention to key informants. Through these activities, I was able to gain insigh t into informants subjectivities and the inner workings and meanings of Alpha-1 culture (Keith, 1980). It was also my position in the community, and contact with my acq uaintances, that allowed me to recruit a sufficiently diverse cohort for the study (Penrod et al. 2003). The normal channels of recruitment are highly controlled in the Alpha-1 comm unity, both by the researchers and IRB approvals, and by the Alphas awareness of allowable pr otocols in research. But, I was able to contact people I knew directly, and initiate recruitment without having to go through the time-consuming process of obtaining approval from organizational administ rators. I was also able to easily arrange interviews, and observations, of researchers, physi cians, and nurses from among a wide field of acquaintances in the research community. I had served the res earch community for many years, had many friends among the researchers, and, from feedback I had received, knew I had gained a reputation as someone fully invested in the Alph a-1 community this proved very useful during recruitment of medical prof essionals for this study. The motivation to observe the Alpha-1 comm unity, while working among them, grew out of my background in both anth ropology and research administration, and prior work among marine scientists. I had been exposed to the cu ltural domain of scientists for over 28 years, and this led to research questions about the differences between type s of scientists, and the reasons why individuals chose a particular branch of science as their focus. Noticeable differences, for example, were immediately apparent between ma rine scientists and physician/researchers, and these differences seemed significant, particularly in terms of the level of commitment to patients, the consumers of scientific inve stigation, as opposed to the detachment of research scientists from the general public. The opportu nity to observe the variations in the conduct of medical vs.
82 marine research, and a growing curiosity abou t why the patients in the Alpha-1 community seemed so much more empowered than any other type of patient I had ever encountered, became the basis for this study. In addition, as a person with relatively minor lung problems, I was also motivated to understand how to develop a positive image about a physical disability, and how to achieve a level of empowerment, and self-management, related to my own condition. I became aware, during the course of the study, th at my medical condition, and having a mother with advanced Chronic Obstructive Lung Disease (COPD), gave me much greater access to the patients in this community, although this had little effect on my inte raction with physicians and nurses. I became, in study participants eyes, both a res earcher and a patient my self, with many of the same concerns, and issues, as they had. This was a crucial transition to make, as many patients noted that they first experienced me as one of the scientists, using terminology they did not understand, and even more problematically, as a re presentative of the Alpha-1 Foundation rather than an objective, disinterested researcher. The Alpha-1 Foundation does not provide support for patient activities, and is, therefore, considered as operating fully with in the medical, not lay, domain. As a representative of that organizati on, I could have been experienced as less than interested in the patients concerns, and effo rts were made during interviews, and focus group sessions, to clarify my role as an anthropology student at the Universi ty of Florida, rather than an employee of the Alpha-1 Foundation. There was also the need to make this distinction to the physicians and nurses interviewed, and to ensure th em that their responses to my questions and their opinions about the Alpha-1 community would not be share d, or provided, to the Alpha-1 Foundation, but, would be considered academic res earch data conducted under the auspices of the University of Florida, Instit utional Review Boards approval.
83 Without my previous years of employment in the community, this study might have taken years to accomplish. I would have had to learn the medical terminology, familiarize myself with a complex community infrastructure, become acquainted with key members of the scientific and patient communities, and spend time traveling to Alpha-1 centers around the United States, and Europe. In addition, without the hiring in expe rience, the study might have remained firmly rooted in an etic perspective. Instead, my study has been an evolving examination of empowerment created by me with the active involvement of member s of the community. Through this coordination and inter action, the study results will more likely address the issues of importance to the community, reflect empowermen t as it is experienced in the community, and provide policy recommendations that are based on existing resources, and potential for implementation.
84 126 435 97 167 615 655 293 310 143 229 171 152 0 2698 2841 3070 3241 3393 825 1440 126 0 561 658 2095 2388 2008 20062007 2005 1996199719981999 2000 2001200220032004 0 500 1000 1500 2000 2500 3000 3500 4000 Figure 2-1. Alpha-1 Research Re gistry enrollment by year
85 Registry 38% Alpha Net 17% Alpha-1 Foundation 10% Alpha-1 Association 4% None 23% Web 4% Clinical Resource Center 2% Downloadable Format 1% University of Florida 1% Figure 2-2. Source of Research Re gistry applications since 2000
86 CHAPTER 3 THEORETICAL FRAMEWORK Introduction In Chapter 2, Alpha-1 Antitrypsin D eficiency (Alpha-1) is described as a variety of modalities. It is first described as an individua ls experience of increasing illness, then as a genetically caused, but rare, condition affecting th e health of infants, ch ildren, and adults, as a potentially stigmatizing social iden tity as a patient, as an econom ic burden, and, as an interesting and challenging biomedical research topic. Examining Alpha-1 through such multiple locations and enactments may help to realign the importance, even centrality, of the patients experience. However, a more socially oriented approach is not meant to diminish the importance of the biomedical understanding of Alpha-1, but to fu lly incorporate all as pects of the Alpha-1 experience into our anthropological assessment of the condition, and the community. For, much of what is known about Alpha-1 is biological. Since the discovery of Alpha-1 in 1963, a great deal of progress has been made in the biomedi cal domain to identify those affected (Anonymous, 1989, 1997 and 2003; Needham and Stockley 20 04, Sandhaus, 2004), and to elucidate the underlying factors contributing to the pathogenesis of disease a ssociated with this genetic condition (Blank and Brantly 1994, Sveger et al 1997, Stoller 1998, Marcus et al. 1998, Soy et al. 2006). Although, there are some commonalities with other rare genetic lung diseases, such as Cystic Fibrosis (CF), Alpha-1 was discovered more recently, and during a time when societal attitudes about the inviolability of science, and the practice of medicine, were undergoing a major shift. Understanding Alpha-1, and empowermen t within the Alpha-1 community, must, therefore, be considered in the context of th e existing societal attitudes at the time of its discovery. For, unlike CF, which was discovered in the late 19th century, Alpha-1 was first
87 diagnosed during an era when individuals and groups were embracing the concept of the power of the patient, and patients right to information, and privacy, during the c ourse of their medical diagnosis and treatment (Botki n, 2001, Merz et al. 2002, Sharp and Foster, 2002). There were concurrent changes occurring in Unit ed States society in the late 20th century relating primarily to loss of trust in authority (Teff, 1994; Hall et al. 2001). I believe the loss of trust in authority promoted a change in public attitudes relating to the role patients play, and, may have been a central factor in the increased power of the pa tient, particularly in the rare genetic disease communities. But, these same social factors (loss of trust, rise of patient empowerment), may also signify a shift in the traditional hegemonic relationship between doctors and patients in the United States (Teff, 1994; Ha ll et al. 2001). This study explor es both aspects the factors leading to empowerment in a particular rare genetic disease community, and the larger implications of patient empowerment relative to the role medical professionals play in identifying, and managing, disease. And, the pur pose of this chapter is to delineate the underlying anthropological and lingui stic theories that frame the study design, and the relation of this research to a larger body of medical anthropol ogical studies on disease communities, and the illness experience, in the United States. Contextualizing Empowerment Social Conditions Patient em powerment has been variously defined in the literature as patient autonomy, knowledge, and as representing the potential for social transformations (Teff, 1994; Leps, 1995). In studies of empowerment, the patient is charact erized as a consumer rather than recipient of medical care, and as a counter-availing authority to medical professionals (Clarke et al., 2003, Schlesinger 2002). Although, consumer instead of recipient may seem a subtle distinction, a
88 consumer connotes someone who makes active choices, whereas a recipient, or patient, connotes a more passive role (Clarke et al., 2003). Preliminary research explored several key so cial and historical f actors that may have contributed to a shift in power between healthcare professionals and patients, including the loss of faith in the American medical profession that Schlesinger (2002) characterizes as a deprofessionalization. This deprofessionalism refers to the loss of doctors autonomy and authority. At the heart of this authority is the idea that physicians possess a special knowledge that helps them make appropriate decisions abou t treatment of illnesses. A secondary source of medical authority is the belief that professionals will act as reliable agents, protecting the patient interests and well-being (Schlesinger, 20 02). However, this auth ority, and the legitimacy of the medical profession, has been increasingl y challenged by the growing influence of other stakeholders in healthcare and illness, whos e agendas conflict with those of the medical community. This countervailing authority includ es, the empowerment of patients who are the consumers of medical care, and th e increasingly active role of pa tient organizations, and patient advocates (Schlesinger, 2002). The growing knowledge about Alpha-1, and its potential impact on those affected, was also embedded in a social framework that had become increasingly biomedicalized. The growing reach of medical jurisdiction over health itself, in addition to illness, disease, and injury, and the commodification of health, led to the production of new technoscien tific identities (Clarke et al., 2003). These identities are made possible by bi omedical technologies that identify high-risk statuses, such as the electrophoretic and gene array technologies that allowed for the identification of deficient states of Alpha-1 Antitrypsin Deficiency.
89 In the biomedicalization era, the focus is no longer centered around a deterministic view of illness, disability, and disease, but on heal th as an ongoing moral self-transformation (Clarke et al. 2003). This new focus on healt h, risk, and surveillan ce is transforming the production, distribution, and consum ption of biomedical knowledge, and transforming our image of bodies and identities in illness. The focus on health and surveillance may paradoxically lead to a less medicalized view of health, as the primary site of responsi bility shifts from the medical profession to responsibilities sh ared in collaboration with th e individual patient-consumer (Clarke, et al. 2003, Gunderman 2000; Loughlin 2003; Anie et al. 1996). Historically, medical decision-making was paternalistic, dominated by medical professiona ls maintaining their primary role through non-disclosure, and an insi stence on deference to th eir authority. In this traditional medical paradigm, good communication, a nd effective interaction with the patient, was viewed as marginal to medical practice (Teff, 1994). A new model for decision-making is emerging, however, that places greater emphasis on patient autonomy, and therapeutic alliances that move beyond the view of medical decisions as the application of sc ientific knowledge to a passive patient (Hanna, 1998; Warren et al. 1998). The decline in social attitude s about medical responsibility fo r health may also be due to an erosion of trust in the medical profession, a nd doctors. Mechanic (1996) notes confidence in medical leaders has declined from 73% in 1965, to 22% in 1993. Although, this trend reflected a general decline in trust in social institutions, the changes in medical practice to managed care, and the availability of information about medical e rrors, have also contribu ted to loss of trust in medicine (Mechanic 1996). In addition, as longevity in America increases, and medical practice increasingly serves chronic ca re patients; several studies ha ve demonstrated a widespread discontent with the medical approach to chronic ca re. These studies credit the growth of patient
90 self-help groups as a new social movement that will address chronic care concerns more effectively than traditional biomedical appro aches (Hanna, 1998; Mechanic, 2001). Patients are urged to be more thoughtful and skeptical as consumers of medical care, and to question their medical treatment (Mechanic, 1996). As noted above the change from patient to consumer may seem simply a change in terminology, but, it is suggestive of a significan t change in how we think of physicians, and the prev iously unquestioned dominance of their role in healthcare and disease management (Mechanic, 2001). Another factor in a shifting hegemony between patients and healthcare professionals can be attributed to the wide availa bility of Internet technologies, since the mid-1990s, that promoted a more rapid dissemination of information on medical conditions (Armstrong, 2003, Finkelstein and Friedman, 2000; Goodman, 2005). Those with acce ss to the Internet, and affected by chronic or genetic illnesses, now had the means to educ ate themselves about their condition, and be in contact with others with the same condition. Curr ent developments in telematics may represent a new social movement centered on the need to know, and where information becomes a consumer good (Leps, 1995; Finkelstein and Friedman, 2000). This need to know, in turn, activates social, economic, and polit ical relations, and is a major factor in what Pierre Bourdieu calls the habitus of Western industrialized societies (In: Leps, 1995). Through the increasing dominance of computer resources, the discur sive affirmation that knowledge is power will increase the possibility for la rge-scale empowerment through in formation (Leps, 1995). Wagner et al. (1996) note increases in se lf-efficacy, and the confidence th at one can manage illness, will actually improve disease self-management, change key behaviors and affect illness outcomes for many chronic conditions. Wagner, and Leps also cite the use of lay leaders in developing education programs, and patient registries as particularly em powering approaches.
91 Anthropological Considerations As an applied anthropologist, m y primary c oncerns are what I can do about a situation I observe. However, my research is based on theore tical frames, and research methods, that have been successfully utilized by anthropologists a nd linguists working in th e medical domain. Since little research on patient empowerm ent, or other social issues relating to genetics, has been conducted in rare disease communities, I had to find appropriate models from a variety of disciplines to use as the basis of my research design. Using such established frameworks to guide my research design situates my research within a larger body of knowledge. And, by incorporating a number of differe nt, well tested approaches, my research results may be more accessible, and understandable, to bo th social scientists and medica l scientists. I use this Chinese menu approach, (one from Column A and two from Column B), because it is useful without being constraining. I began with elements of a grounded theory approach (Addison, 2002; Agar, 1980, Irurita, 1996; Kearney et al. 1995; Strauss, 1992). I consider it an appropriate approach in that I seek to elucidate the social, cult ural, historical, and lingui stic background features that are the ground, or frame, of the practice of medicine, and the role of patients. And, I chose this approach because my work is grounded in the everyday practic es of members of the Alpha-1 community, and their physicians. Addison (2002) had proposed cent ral principles of groun ded research that I found useful as a way to approach the issue of empowerment. These central principles include, immersing oneself in the participants world, ma intaining a constantly questioning attitude, and analyzing, in a circular progr ession, between parts and whole, foreground and background. Having immersed myself in Alpha-1 culture for nine years, I was able to make assessments from a concerned, involved perspective, and to analyze what I observed as situated with in a cultural, and historical, context. Grounded theory principles also provid ed me with an understanding of
92 the possibilities in the role I play as an anthr opologist in the Alpha-1 community I could offer my own account of what I had observed, desc ribe how the issue developed, and recommend future actions, or positive changes (Addison, 2002) A grounded approach requires a certain degree of flexibility, and the need for a heightened sensitivity to the actual responses of particip ants, as the primary mean s of generating hypotheses about empowerment (Charmaz, 1994; Abrahamss on, 2002). Using this approach, I focused on examination of the social processes and existi ng problems in the Alpha-1 community, and looked (and listened) closely at how Alpha s handled, or resolved, their pr oblems. There was no need for me to fit data into preconceived or standardized categories, and I was able to interpret the data freely, and modify initial hypothe ses or understandings, after anal ysis of interview and focus group data. By using this method in the Alpha-1 community, crucial components of empowerment, (or lack of empowerment), represen ted by the diagnosis event, the cost of illness, and the often stressful experience of caregivers, were identified emically, and incorporated into subsequent interviews and focus group sessions. Elements of participatory rese arch also figured in the res earch design. This included, the emphasis on an emically derived definition of empowerment, and the involvement of community gatekeepers (AlphaNet coordinators), in recruitment of an ap propriately diverse participation in the project (Penrod et al. 2003; Johnson, 1990). As a proponent of participatory action research, I believe that the people most aff ected should have the most say in the way their experience is characterized, and analyzed. The a ffected individuals should also have considerable input into the research questions being asked, and, ultimatel y, have ownership of the information derived from a study about them. Through their involvement in this participatory research project, Alphas had the opportunity to look into their ow n lives, and explore th e meanings of their
93 experiences with Alpha-1, as recommended by Ervin (2005). But, study part icipants also had the opportunity to influence the c onstruction of the theoretical models of empowerment, set priorities among the potential components of empowerment I identified, and, even alter the basic questions being asked in this study. Because th e patient focus groups centered on the lived experience of Alpha-1, as articulated in lay term s (rather than the more traditional approach to Alpha-1 as a medical condition that is described in medical term inology), the sessions served as a powerful, and empowering, means for participants to help construct kno wledge about Alpha-1, and feel fully invested in the process. By allowing this active community participation in the research process, the sessi ons, and interviews, appeared to provide an energizing, and educational, experience for the majo rity of participants. Subseque nt feedback from participants confirmed this impression of participation as a positive experience. Linguistic Theories I also utilized key concepts from anthropologi cal linguistics as a theoretical framework for the study. Linguistic relativity, or the domaincentered approach described by Ochs and Capp (1996), was employed as a means of understandi ng the significance of differences in the languages used by stakeholders in the community. Domains, as defined by Hymes (1962), represent specific types of speaking, rather than speech communities as unified wholes. In more recent sociolinguistics research, domain is used to refer to a sphere of lif e in which verbal, and non-verbal, interactions occur, such as the in stitutional discourse hear d in medical contexts (Boxer, 2002; Borgatti, 1998; Ma ynard, 1991). Conceiving of the in teractions between patients and physicians as the intersecti on of distinct domains, led me to consider empowerment as a transitional process bridging the personal and medical domains (Maynard, 1991; Zwitter, 1997). Using a domain-centered approach might explai n the reason for the differences between how doctors, nurses, Alphas, and family members expe rience Alpha-1, think of how to treat it, or
94 explain it to others. I operationalized this by noting how each study participant selected from versions of medical, or lay, terminology to organize the overarching domain of Alpha-1. The domain-centered approach also provided a m eans for understanding the commonalities in belief between Alphas and their doctors, even when expr essed using markedly different terminologies. Linguistic relativity, apart from identification of domains, influenced my thinking about how to analyze empowerment, and led to consid eration of the nature, and extent, of the distinctions between the language of medicine, and the patient s narrations of diagnosis and illness (West, 1984). The doctrine of linguistic relati vity had evolved as a Boasian reaction to the denigrating attitude towa rd unrecorded languages prevalent in the late 19th and early 20th centuries. Boas influence on his student Sapir, an d Sapirs student Whorf, led to the formulation of their oft-cited hypothesis about linguistic relativity, name ly, that languages have great structural diversity, and, because of their differe nces in structure, influence the world-views of their speakers (Whorf, 1956, Sapir, 1951). The Sapir-Whorf hypothesis has spawned radical adherents, and vociferous opponents who propose what they claim are more rationalist assumptions (Kay and Kempton, 1984; Whorf, 1956; Brown and Levinson, 1993; Lucy, 1997, Coupl and and Jaworski, 1997; Wassman and Dasen, 2000). Several studies, seeking empirical pr oof of linguistic relativity, have focused on color perception (Davies, 1998; Davies and Corbett, 1997; Berlin and Kay, 1979; Brown, 1976; Heider, 1972; Kay and McDaniel, 1978). The colo r studies prior to 1969 tended to reinforce the validity of linguistic relativity, however, several of the studies after 1969 contested linguistic relativity, at least as it relates to color perception (Kay and Kempton, 1984). There are other studies that demonstrate at leas t weak linguistic relativity; one study relates to differing time perceptions between English a nd Hopi speakers (Whorf, 1956), another study looks at language
95 and spatial perception. The latter studies compared spatial perception among Balinese, and other Asian societies, that differ markedly from th e academically predominant, Western European spatial schema.(Wassman and Dasen, 2000; Levinson, 1996; Barnes, 1993). Because the Sapir-Whorf hypothesis has been so variously interpreted, I focused on particular quotes, by Sapir and Whorf, which I found particularly applicable to my study of empowerment: The real world is to a larg e extent unconsciously built up on the language habits of the group (Sapir, 1951). The categories and types that we isolat e from the world of phenomena we do not findbecause they stare (us) in the face. On the contrary the world is presented in a kaleidoscopic flux of impressions which have to be organized in our minds. This means, largely, by the linguistic system in our minds (Whorf, 1956). Too many of the Alphas that I interviewed ha d noted the overwhelming feelings they had when first diagnosed, and the difficulties they had assimilating masses of new information into an understandable scheme they could cope with. A linguistic approach would help me elucidate the organization, or structure, of their knowledge about Alpha-1. For, if Whorfs hypothesis is true, the structure of the patient s native tongue, or lay langu age about Alpha-1, would strongly influence, or fully determine, the world-view the patient acquires. In addition, if linguistic relativity exists, then th e language of the illness experience, that the patients use, is equal in validity to the medical terminol ogy that the physicians, and nurs es, use to describe, and cope with, Alpha-1. The theory of linguistic relativity also sugge sted there might be viable links between the lexical categories expressed so differently by docto rs and patients. To a pa tient, being very sick is a meaningful expression, and situates a cu rrent experience in relation to previous, or anticipated, states of illness. To a nurse or physician, however, very sick expresses little that is useful in terms of diagnosis and treatment, until the phrase is translated into quantitative
96 measurements of body temperature, expiratory volume, heart beat, blood pressure, and audible cues from the lungs. A radical li nguistic determinist w ould propose that, instead of reconfiguring the patients narrative into the predominant language of the medical domain, the divergent narrative could be c alibrated, or incorporated, through lin guistically unbiased description of the same situation or experience (Lucy, 1997) Although, I remained open-minded about the utility of linguistic rela tivity, I also considered other linguistic theories and approaches, such as Speech Act Theory, critical discourse analysis (CDA), narrative analysis, the ethnography of speaking approach, and interact ional sociolinguistics (IS) (Boxe r, 2002; Jaworski and Coupland, 2000). Critical Discourse Analysis seemed an a ppropriate theoretical frame for a study on empowerment, as it could help me to expose important social problems stemming from discriminatory, or manipulative, language use by medical professionals. For, if linguistic relativity was not a valid assumption, than the predominant dynamic in medical care would be the maintenance of power through language, rather than the concurrent development of different, but equally valid, ways of e xpressing and experiencing disease (Maynard, 1991; West, 1984). Likewise, IS, with its specific focus on mi scommunication between different groups, would allow me to study miscommunication in order to discover how it evolve s, and how it can be avoided (Gumperz, 1977; Boxer, 2002). And, th e ethnography of speaking (EOS) approach would provide what I consider, as an anthropologist, the essential framing for the speech acts under study the larger social context. The EO S and Speech Act Theory methods, used in the study, are described in detail in Chapter 5: Looki ng and Listening: A Linguistic Analysis of Medical Encounters.
97 The theories underlying narrative analysis helped me to unders tand the potential of this study to empower participants, and, gave me specific tools for understanding language choices within the Alpha-1 community. Using a linguistic framework, Alphas narrations were seen as empowering for their ability to provide patients, and caregivers, with an opportunity to impose order on otherwise disconnected events, and to create continuity between past, present, and imagined worlds (Ochs and Capps, 1996; Labov and Waletzky 1967). Narra ting their stories, also allowed Alphas to socialize their emotions and identities, as we ll as consolidate their membership in the Alpha community (Hanse n and Liu, 2001; Giles and Johnson, 1987; Tajfel, 1981). Since, their narrations are versions of r eality, I saw how Alphas were able to re-construct their condition in the most posi tive terms, frame their past ex periences in terms of present knowledge, and empower their individual experience through identity, and membership, in the supportive network of the Alpha-1 community (Hansen and Liu, 2001; Waitzkin and Britt, 1993; Labov and Waletzky 1967; Lucy, 1997; Colby, 1966). Using linguistic analysis, I wa s able to perceive qualitative differences between the disjointed narrations of newly diagnosed individuals, and the more positively expressed, and cohesive, narrations of those diagnosed year s earlier (Waitzkin and Britt, 1993). Those diagnosed earlier had the chance to refine their na rrations over time, re-order sequences of events to make them more understandable, and fit variou s topics into an overall schema, or structure, called Alpha-1. Newly diagnosed in dividuals are still trying to di gest information, and relate their newly defined experience as a diagnosed Alpha to entire fields of medicine and genetics. According to those I interviewed, diagnosis, an d introduction to the world of Alpha-1, was a universally overwhelming experien ce, and early narratives of the experience reflect a degree of confusion about the meaning of Alpha-1 that is missing from later accounts.
98 In addition to the theoretical influences fr om anthropological linguistics, I also employed specific linguistic analytic tools. These are described below. A review of the linguistic literature led to consideration of medical encounters and diagnosis events as locutionary speech acts (Austin, 1962; Jaworski and Coupland, 2000). To a linguist like Austin, a diagnosis is an illocutio nary act because it is asking or answering a question, giving some information or warning, making identification, or giving a description (Jaworski and Coupland, 2000). Diag nostic utterances can also be considered as performative speech acts, as they lead di rectly to actions and responses (Jaworski and Coupland, 2000). Performative speech acts in medical care can incl ude neutral utterances such as announcing an intention to conduct a procedure (now I will list en to your lungs), provide identification, or make an appointment. Performative acts can also include utterances that are more apt to produce an emotional, psychological, or physical response, such as criti cizing the patient, warning about risky behaviors, pronouncing a specific diagno sis, advising, suggesting, ordering, or demanding. However, there is a continuum between a physicia ns advising, or merely suggesting, or actually ordering, and the subtleties inhere nt in lexical choices can have drastic consequences when the intent of a diagnosis, and recommendations for disease management, are misunderstood. A speech analysis of medical encounters was seen as a potentially useful approach for discerning effective performative choices. I also evaluated the three medical encounters I observed for thei r Gricean cooperative principles (Grice, 1991; Jaworski and Coupland, 2000), and as distinct speech genres (Bakhtin, 1986; Jaworski and Coupland, 2000). Using the Gri cean approach, the diagnostic event is seen as violating several features th at signify cooperation, namely that the participants have some common immediate aim, and that the transaction continues until both parties agree it should end
99 (Jaworski and Coupland, 2000). Alth ough, both participants in a di agnostic event are concerned about the condition Alpha-1 Antitrypsin Deficienc y, doctors and patients have distinct, and not necessarily mutual, aims regardi ng a diagnosis, and the doctor, in the majority of cases, controls the length of the encounter. The doctors aim, in a diagnosis, is to demonstrate expertise and knowledge, to represent the fina l authority for decision maki ng, and to provide sufficient information for the patient to comply with recommended treatment plans. The doctor may also be motivated by the goal of publishing new information in unexplored fields, and in carving out their professional competence as distinct from other practitioners. Unfo rtunately, the doctor is also under the constraint of time and case manageme nt, in this era of managed care, and brevity may be institutionally mandated, and an overriding aim in a diagnostic event. The Alpha-1 patient, on the other hand, is in the process of creating a new self identity based on designation as a rare, genetic disease patient (Ochs and Capps 1996; Clarke et al., 2003). This new identity includes emotional, and psychological, re sponses that can veer between feeling victimized or feeling empowered; what b ecomes evident in the course of this study, is that an empowered identity may give the individual a better chance of coping with their diagnosis. In the process of creating a new identity, a diagnosed indi vidual must construct lay meanings about complex biological processes, and relate often newly acquired understanding of human biology to their own symptoms. The dia gnosed individuals concern is not necessarily what Alpha-1 is, or how it behaves on the molecu lar level, but how their condition affects their day to day work and family life, their ability to breathe, and the length of their life. In this regard, the diagnostic speech event may also violate the Gricean principles of quantity, manner, and relevance, for the physician seems to have a differe nt focus than the patient on what is important
100 about Alpha-1, may tell them more than they need to know about certain topics, and, unfortunately, make lexical choices th at are obscure, ambiguous, or lengthy. The reason for poor lexical choices was discerned using Bakhtins theory of speech genres, or subsets of language developed by culturally specific communities. Given the emphasis on mastery of medical terminology as indication of professional competence, the often obscure language used in medical encounters may be because doctors talk is so firmly rooted within the medical speech genre. Physicians specific utteran ces in a diagnostic speech event are links in a very complexly organized chain of other uttera nces (Bakhtin, 1986), and the doctors diagnosis is based on a well developed, pr ior knowledge of biology, genetics and more narrowly, disease pathogenesis and clinical outcomes. The doctors description of the significance of a diagnosis may, therefore, utilize descriptive terms that for them, as medical professionals, sum up complex processes, but, for their patients, are words they can barely pronounce, much less understand. Patients have often expressed feeling overwhelmed during their diagnosis, and subsequent office visits, with the amount of new terminology they are asked to understa nd, and respond to. These patients may find themselves unable to fully comp ly with treatment options, because they lack understanding of their condition, and its pr ogressive, and degenerative, nature. An analysis of medical visit conversations wa s also evaluated according to Grices theory on implicature, or the kinds of implication th at speech exemplifies in ordinary conversation. Together with Bakhtins defin ition of culturally specific speech genres, the conversations in a medical office are seen as existing within, and dependent upon, larger li nguistic and social contexts. These contexts, including the use of a particular culturally-specific speech genre, may not be consciously recognized by the physician or nurse, or alluded to directly. When a nurse communicates information to the doctor, for example, there are unspoken references and
101 implications in the phrases used. A comment on heightened white cell co unt, or higher number of eisinophils, communicates, throug h implication, the presence of infection regardless of any observed external symptoms, comments by the patie nt, or explicit statem ent regarding infection. Grices principles, and Bakhtin s approach, both seem to confirm the ongoing existence of a traditional hegemony between medical professionals and patients, however, analysis of the speech event of office visits is necessary to ev aluate this in practice. The study, therefore, examined speech gaps, and miscommunications, through micro-sociolinguistic phenomena such as code switching, strategies of neutrality, and choices between formality and informality (Scotton 1976; Irvine 1979). Code sw itching research is of particul ar interest, as I had observed code switching as one means of maintaining the boundary between physician/nurse and patient/caregiver (Hansen and Liu, 2001). Code switching has been proposed as a means of contesting hegemonic relations (Gumperz, 1982; Giles and Johnson, 1987; Heller, 1988; Nelson, 2001) since, in the medical domain, code switchi ng is common, and frequently used to mark utterances with authority and accuracy. I observe d nurses frequently code-switching from the lay language they use with patients, to the medical terminology that they use with physicians. Once they switch to medical terminology, nurses ar e able to summarize long, sometimes rambling narratives into discrete symptoms, and precisely define physical measurements indicating the patients status on the disease/health spectrum. In the Alpha-1 community, I observed evolutiona ry stages of empowerment relating to the patients ability to code-switch into medical terminology. Rather than using the opportunity of the office visit to challenge the predominance of medically-centered de finitions of Alpha-1, Alphas tend to recast their experience in medi cal terms, even though such terminology may lack the semantic power to communicate (their) intended meaning (N elson, 2001). Although,
102 embracing the value of code-switching may denote patients taking responsibility to learn the language of their illness, it also denotes the centrality of the medical domain in defining their illness. Formality, and informality, was also consid ered as linguistic markers of existing hegemonic relations in medical care. Formality is the prevailing affective tone of medical encounters, and my observations of patient a nd physician interactions noted the increased structuring of their discourse, the ritualized e xpressions, and the respect for the normative social order so characteristic of situational forma lity (Irvine, 1979; Bloch, 1975). The degree of formality, and level of politeness, expressed du ring medical office visits indicates seriousness, and a heightened respect for a traditional social order. Formality, since it expresses normality and tradition, may therefore also indi cate a coercive political estab lishment that constrains the individual to conformity (Irvine, 1979). The maintenance of formality in physician-patient relations may serve to counteract any gains patient s have made in learning about their condition they still must express their experience formally, and in medical terms, to be heard by the physician. Linguistic analysis was ultimately chosen as the best means of highlighting the often enormous gap between medical speech genres and patient speech genres in a way that promotes more effective bridging of that gap. Nurse-patient interactions we re also examined, since I had observed how miscommunications that arise in the doctor-patient encounters were often resolved, or overcome, by the nurse or physician assistant. Language use in the community The choice to conduct a study of the Alpha-1 community using linguistic m ethods, also grew out of the observation that, in the Alpha-1 community, the use of the words patient and disease is discouraged in public discourse, and in publica tions. Since, Alpha-1 does not
103 necessarily lead to disease (Sandhaus, 2004), individuals, who are diagnosed, refer to themselves as Alphas, not patients, and, even some resear chers prefer to call Alpha-1 a genetic condition, not a disease (Carrell, 2004). Capturing the full flavor of the Alpha-1 community would, therefore, be more appropriate as an examina tion of how well individu als in this community cope with their condition and maintain their quality of life, rather than a study of the extent of disability or disease. Similar to the subtleties associated with the use of the word consumer vs. patient, referring to themselves as Alphas, rather than patients, may denote a conscious attempt to influence perception through vocabulary. Whet her a conscious choice or not, the common connotations for the word Alpha in United States culture evoke images of Alpha male primates, or Alphas as first, best, or primary; referring to themselves as Alphas is to embrace these common, positive connotations. A further linguistic advantage in this community was the switch from Orphan Disease status in the 1990s to Rare Disease status. Rare connotes a more positive image than orphan, giving members of the Alpha-1 community a further linguistic advantage, and self-perception that they are some how special, rather than bereft. In addition, the community has chosen to e xpress their goal as a search for a cure. Initially, scientists involved in Alpha-1 research objected to the use of the word cure, preferring to think of their efforts as developing therapie s, or searching for a potential cure. However, the patients insisted on using the word cure and, eventual ly, the scientists also began to think of their work as a search for a cure, and to use the word cure to refer to their efforts. Recognizing the community standard for the use of positive expressions, empowerment was defined in pre-study recruitment of Alphas as those things that make you feel in control, help you cope better with Alpha-1, understand y our condition, or control your illness better. I
104 also noted during recruitment of both Alphas, an d medical professionals, that empowerment is defined in the literature as including components of better co mmunication with your doctors and nurses, access to resources, e ducation, and services, good family support, and interaction, and support, from fellow Alphas. Communicative competence I am well known in the community in my former position as Director, Research and Grants for the Alpha-1 Foundation. I have been told by colleagues in the community that I have a reputation as a science geek, which I consider a compliment. For, I am unendingly interested in the science of Alpha-1, and willing to spend considerable time to understand the biology of Alpha-1, and the research being conducted on this genetic conditi on. I spent the past nine years asking questions, reading sc ientific articles, visiting genetic te sting labs and basic science labs, observing medical and diagnostic procedures, and organizing scientific m eetings about Alpha-1. I want to be competent in the language of Al pha-1, and have some degree of understanding of this genetic condition. One of my jobs at the Foundation was to ma intain, and regularly update, a very large bibliography on Alpha-1 researc h. This bibliography had been or iginally compiled by Dr. Mark Brantly, and contains over 12,000 ti tles relating to Alpha-1 resear ch and clinical care. I was trained by Dr. Brantly and Dr. Sandhaus on the use of EndNote software to maintain the bibliography, and how to search for relevant articles. Dr. Sandhaus gave me additional instruction in how to review abst racts, and how to compile topic bibliographies. In 2000, I visited the NIH, National Institute of Environmental Health and Safety facility, in Research Triangle Park, where a computer consultant gave Dr. de Serres and me a lesson on how to search PubMed for recent publications, and in th e use of EndNote to manage our bibliographies. From 2000 until 2006, Dr. deSerres conducted a twice-yearly revi ew of recent publications, and sent me the
105 listing, which I then incorporated into the larger bibliogra phy. Throughout my tenure at the Alpha-1 Foundation, I was contacted, on averag e, once a month, and asked to search the bibliography, and provide a scientist, a student, or a patient with the resulting list of relevant articles on a specific topic. Typical search topics include d, co-morbidities of Alpha-1, environmental impacts and Alpha-1, psychosoc ial impacts, articles about screening and detection, or a list of articles de scribing diagnostic technologies. Another responsibility I had at the Foundation was to organize scientific meetings and workshops. This included participating in plan ning sessions with the scientists, who would designate the topic, and begin to outline the agenda. Over tim e I was able to understand enough about who did what in Alpha-1 research, to sugg est appropriate speakers and moderators, draft the conference book, and assist with conference grant proposals. During the many months of planning with conference chairs, I had numerous opportunities to learn ab out specific areas of Alpha-1 research. Dr. Sifers, who chaired th e 2000 Conformational Di sease Conference, was particularly patient, and spent many hours explaining his molecular research, and its implications for Alpha-1 patients. A third key responsibility, during my years in the community, was to help create and manage a peer-reviewed grants program. Although, I was not expected to understand the science on the level of the reviewers, I did assist in summarizing the proposals in lay language for the Foundations President and Board members, and reviewing the proposals myself as a way to learn more about Alpha-1. In addition, as noted in Chapter 2, I made a number of visits to laboratories and research cente rs, always with the purpose of understanding th e science of Alpha-1.
106 My immersion in Alpha culture provided a useful context for understanding the oftencountered Alpha-centric point of view show n by both Alphas, and the medical professionals considered expert in this field. At times, I felt like I was atte nding a ten-year pep rally, as there is a pervasive sense of rooting for the Alpha cause in this community, an almost obsessive concentration on finding a cure, an ongoing commitment to community building, and a competitive drive to be the first, the best, and the most effective among the rare genetic disease communities. But after nine years, these attitudes have become more understandable, and I fully embrace the positive identity of the Alpha-1 co mmunity. More importantly, knowing the Alpha1 culture firsthand, and experiencing my own id entity as a member of this community, have proven invaluable as a framework for unders tanding empowerment in this community. Discussion In ligh t of socio-historical factors, the increase in patient awareness, and access to resources, linguistic indicators, and over nine year s participant observation of the Alpha-1 community, I hypothesized that members of the Alpha-1 community are noticeably empowered. However, questions remained did empowerment in this community also signify a shift in the traditional power relations between doctors, nurses, and patients? Are patients challenging the logic for a biomedically-determined knowledge of th is rare disease, or trying to gain mastery within the medical domain? Was empowerment unidimensional, with one form following another in linear fashion, or, was it multidimen sional, and highly variable among individuals with the same condition? Were there core components of empowerment for all types of patients, or, was the form of empowerment in the Alpha -1 community unique to that community? And, finally, could components of empowerment be quan tified in ways that allowed application of principles to other disease communities?
107 Anthropological and linguistic analysis mi ght confirm whether Alpha-1 patients are empowered enough to be thoughtful consumers, forge therapeutic alliances with their caregivers, and question their medical treatment or, if historical paternalistic modes of interaction between doctors and patients still prevail in practice. Examining the issue of empowerment in the Alpha-1 community is not intended as an assault on the ultimate value of biomedical knowledge Rather, it is an explor ation of the role of the patients experience in co-constructing know ledge about disease. Data on nurse-patient interactions was included to help elucidate the key role nursing staff, and physician assistants, play in effective communication with patients. In addition, a discussion of the role caregivers, and organizations, play in dise ase management and empowerment is included to provide the appropriate context for increasi ng our understanding of how patient empowerment is achieved.
108 CHAPTER 4 ANALYSIS OF COMMUNITY INPUT Introductio n This chapter presents the methods used to elic it and analyze data, provides results of the narrative analysis of interview data and focus group se ssions, and provides a preliminary definition, and model, of empowerment. An import ant premise of the narr ative analysis is the value of patient-derived data, and emic defini tions of empowerment. My commitment to the participatory nature of the study made it especia lly important that I fully understand the core communications of the narratives, and derive ap propriate core themes, and sub-themes, on the nature of empowerment from the communitys perspective. Through a careful analysis, and interpretation of the data, I could ensure that th e study results reflect the nature of empowerment, as Alphas themselves experience it. The analytic techniques I chose, and that ar e described below (in Narrative Analysis), led to development of a codebook of themes, and overarching meta-themes, relating to the experience of Alpha-1. These thematic components, in turn, became the basis for the design of a statistical analysis, and the means of test ing the preliminary model of empowerment. Sample The em powerment study sample consists of 49 members of the Alpha-1 Antitrypsin Deficiency (Alpha-1) community (see Appendix C). Of the 49 participants, 34 are Alphas, and 15 are caregivers or family members. Data for the study were gathered from June, 2006 to June, 2008 during interviews, and five patient/careg iver focus group sessions, at geographically dispersed regions in the United States. The focus group sessions invol ved an average of 8 participants in each locale; the largest group session involved 11 people, the smallest session involved 4 individuals. Data was also obtained during 10 semi-structured interviews with key
109 Alpha informants from 2006 to 2008. The study also included interv iews, conducted in 2006, with 8 physicians and 3 nurses, and intervie ws conducted in 2007 and 2008 with 1 physician, 1 physician assistant, 1 nurse, and 4 laboratory personnel. The interviews with other medical professionals and laboratory personnel did not pr ovide demographic data; and, are therefore not included in the narrative analysis described below, nor in the st atistical analysis (Chapter 6: Quantifying Empowerment). The relatively small sample size for this st udy was predicated on the requirements of ethnographic and linguistic research, the need for in-depth narrative data, and, the rarity of this condition among the general population. However, the small sample size, and preponderance of individuals diagnosed for many years, and more aw are of their condition, ultimately influenced the information derived. This is, therefore, a study that does not fully delineate the comparison between empowered and un-empowered individuals, but one that describes, and defines, components of empowered individuals. Given the av ailability of a much larger cohort in the Alpha-1 Research Registry who can participate in the next phase of study, the limitations of the purposive sample is expected to be addressed by a larger, more random sampling of the community. Methods A purposive recruitm ent was conducted to maxi mize the quality of data through choice of articulate, and expert, key informants. Informants were chosen from among my acquaintances in the community, or after a reco mmendation from an organizati onal leader, or patient support group leader. Once key informants were identif ied, chain referral recr uitment was conducted, primarily using AlphaNet coordinators, the offi cial gatekeepers of the Alpha-1 community (Penrod et al. 2003; Juengst, 1998; Johnson, 1990). Four of the five gatekeepers who helped recruit for the study hold employed positions as AlphaNet coordinators. Each AlphaNet
110 coordinator is responsible for a large number of diagnosed Al phas in their geographic region, and, through their extensive networ k of contacts, was able to help me recruit a diverse set of participants for intervie ws, or a focus group session, in their area. The fifth recruiter, who was recommended by a nurse involved in Alpha-1 care is an individual with a large network of Alpha acquaintances, and who is known as the go-to Alpha in he r region when events need to be organized. The diversity of participants was necessary, so that the data would adequately represent variance in the Alpha-1 community population. Howeve r, despite every effort to include the full range of experience of Alpha-1, there was lim ited numbers of newly diagnosed individuals willing to participate, and only one parent of a liver affected Alpha-1 child participated3. Although, the range of ages of participants was also limited there was only one participant younger than 40 (a parent of a liver affected ch ild), and only one partic ipant over the age of 68 (the mother of an adult Alpha) this did not s eem a limitation, as the average age of participants (56.9) falls within the range of the average age of enrollees in the Alpha-1 Research Registry (50.2 years old at enrollment). Interviews were held in th e homes of Alphas and care give rs, however, physician and some nurse interviews were conducted in hospital and un iversity settings. I stay ed at the home of one the nurses, while visiting that region for a focus group session a nd interviews; she was to become a key informant, and provide information and fee dback in a total of three interviews. Our first interview was conducted over breakfast, and rang ed over her entire history with the Alpha-1 community, her relation with a recognized Alpha-1 physician, and changes in the community 3 Children were excluded from participating in the study; the average Alpha child is too young to articulate their experience, and despite the minimal risk of this study, concerns remain high in the community regarding involving Alphas younger than 15 years old in research.
111 that she had witnessed over 20 years. I also stay ed in the home of one of my Alpha recruiters, and key informant, and in a guest room at the assisted living facility of one of the Alphas interviewed. Five of the ten interviews with Alphas were held in their homes; the three individuals I knew well before th e study participated by phone; and two interviews were held in a restaurant and hotel, respectiv ely. On these two latter interviews, I was accompanied by the Alpha recruiter, who in each case knew th e interviewee well, and had recommended these individuals as particularly in teresting subjects. Du ring home based interviews, I was able to observe and assess the extr a-linguistic context, such as the so cio-economic level, availability and quality of family support, and the depth of the emotional impact of Alpha-1 on that individual. The opportunity to interview the individual in the comfort, and security, of their home was a particular advantage for discerning the emotiona l reactions, which in my experience in this community were more often hidden during medical the encounters, or down-played during focus group sessions. Focus group sessions began with a description of the primary goal of my study (to define empowerment from the communitys point of view ), and a short explanation of what medical anthropology is, and how anthropologists appro ach a research question. I would then explain how the anthropological approach differs from the biomedical and epidemiological research and, that many of my study subjects were familiar with I had a written sheet with my IRB approved sample questions and topics (see Appendix A), a nd after referring to it suggested that the group might want to explore some topics that acad emic literature had defined as components of empowerment. I noted specific topics, such as information and awarenes s, networking, family support, communication with physic ians and nurses, and disease self-management. I did not, however, note the diagnostic event in the fi rst focus group session. Based on the number of
112 narratives about diagnosis during th e first session, and the obvious im pact this pivotal event, and the way it is communicated, has on an Alpha and th eir family, this did become the introductory topic in subsequent sessions, and during intervie ws. It proved a useful introductory topic for, once the individual had explored their diagnostic experience, they seemed to naturally progress to discussion of initial periods of denial and depression, the compounding nature of their familys reactions, and their attempts to become more aware, connect with others with the same condition, or begin to manage their illness episod es. I had little need of prompting, and once an individual had begun to narrate their experi ence, they would touch upon additional, and common, impacts of their condition. All those interviewed, for exam ple, mentioned the costs of illness and disability, the costs of therapies a nd devices; and the difficulties with insurance coverage. The majority (8 of 10) also noted th e initially challenging interaction with family members frightened by the diagnosis, and by the implications of a genetic condition for their own health. Research participants in th e study responded to inquiries about their activities with assessments about their level of involvement in the Alpha-1 community, the amount of contact they have with individual patient s, or patient support groups, and their interaction with medical professionals, all which are of di rect concern in this study. Anal ysis of the patient focus group sessions yielded information on a variety of act ivities associated with patient empowerment, such as understanding of Alpha-1 Antitrypsin De ficiency and its pathogenesis as lung, or liver, disease, active involvement in healthcare manage ment, advocacy on the local or national level, and active participation in research studies, and clinical trials. There were, however, factors that were consiste ntly noted in the sessi ons not anticipated by the literature review, or identified by the thematic sample questions, such as the oft-noted lack of
113 empowerment regarding the cost of illness. And, based on the responses, one of the most crucial areas of impact for Alphas appears to be associ ated with the event of diagnosis; an area not specifically identified etically, bu t, that proved useful in eliciti ng narratives relating to identity, and coping, among Alphas. There was a notable lack of discussion, or mention, of end of life or advanced planning, and little disc ussion about transplantation in the focus group sessions. In addition, during 3 of the 5 focus group sessions, and 5 of the 10 in terviews, participants asked questions about the science of Alpha-1. In these 8 instances, I was asked to provide a lay description of my understanding of Alpha-1, or to answer a speci fic question that the Alphas physician or nurse had not sufficiently explained. Although not a goal of the study, these types of questions, and requests for information, indica te the need for, and value of, providing information for every level of understanding. It ma y also indicate the commitment Alphas, and family members/care givers, have to understand ing Alpha-1, and their ab ility to utilize the resources of the community to gain the information they need. Interviews and focus group sessions were transcribed within 2 days of each session. Follow-up telephone calls were made to each focus group session organizer, (the local gatekeeper and recruite r), and to several of those inte rviewed, at least once during the transcribing of notes to verify information, and to ensu re accuracy. Two of the gatekeepers, and 4 of my informants, were contacted on an averag e of once a month throu ghout the entire project, to discuss preliminary results, ask additional questions, or clarify ambiguous notes. I also recontacted 3 of the nurses interviewed, and 4 of the physicians, to re view their interview responses, and to discuss preliminary results. Narrative Analysis The analysis utilized techni ques developed by Jehn and Dou cet (1996), MacQueen et al. (1998), McLellan et al (2003), Ryan and Bernard (2003), and Carey et al. (1995). The techniques
114 involve identifying themes, and, when the patterns in the data become repetitive, or thematically saturated, metathemes are identified, and a code book developed (see Table 4-1). Principles for thematic coding included attention to repetiti on, indigenous typologies, linguistic connectors, and, importantly, missing data (Jehn and Dou cet 1996; Ryan and Bern ard 2003; Bernard, 2003). To code my data, I prepared a two-column docum ent. In the left column was the transcript of the interview, or focus group session data. Th e right hand column had blank lines. As I read through the transcript, I made notes in the right ha nd column of the theme, or topics, in each line. I then ran word searches on each theme, and, when appropriate, combined phrases, or single words, under one thematic label. After reviewing the list of themes, I de termined that several naturally grouped into metathemes, as they repres ented various aspects of a single domain, such as the descriptions of disease progression, or comments about relationships and networking. By the fourth focus group session, patterns in th e interviews and focus group sessions became repetitive, and I considered the data as thematically saturated (Rubinstein 1995). It is not always obvious ahead of time, how many informants are needed to learn about a particular subject, however, attention to thematic saturation helped me to recognize when sufficient data was collected (Rubinstein, 1995). Interpretive strategies I used also includes, an overview analysis to develop theoretical sensitivity, and, a second line by line coding, using the thematic codebook I had developed, for identifying concepts, and confirming the conceptual relationships between concepts (Abrahamsson, 2002; Gottschalk, 1997). Metathem es were derived through a constant comparative method (Boeije, 2002). The thematic coding not only allowed for the systematic investigation of the qualitative data, it prov ided a means for identifying, and modifying, hypotheses (Willms, 1992).
115 Codebook Development: Identifying Core Elements of Empowerment In the prelim inary analysis, three higher-ord er categories were de veloped and labeled Disease Etiology Forms of Patient Empowerment and Networks and Relations (see Table 4-1) All are considered core categories, central to the meaning Alphas, family members, caregivers, and the Alpha-1 community, as a whole, experien ce in relation to the co ndition Alpha-1. Each of these core categories includes seve ral descriptive categories that were grounded in the interview data, and, that together, comprise a model framing the process of empowerment in a rare, genetic disease community (Abrahamsson, 2002). Disease Etiology The frequent descriptions of the m edical condi tion Alpha-1 include, na rratives detailing the pathogenesis of disease in the individual (sym ptoms evolving over time; identification of possible environmental causes), and narratives a bout how Alphas are currently coping with their chronic condition (disease management regimes, therapeutic options, an d transplantation). A noticeable omission in the data were references to end of life, mortality (except in general epidemiological terms), and advanced planni ng. Although, it was not an area explored in the sample questions, it remains a significant omissio n, given the chronic and progressive nature of Alpha-1 Antitrypsin Deficiency. Many Alphas did note comments their physicians made about predicted mortality, but, none sp ecifically commented about their own expected mortality other than to reject the often devastating life senten ce their physician had given them. This selective memory is best summed up by one Alphas comments: AB (male, 54 years old): I may be in denial but until I went for transplantation evaluation, no one ever said end stage or terminal, except the psychologist. In light of the physician interviews, this statement may not be true for many patients, but it remains the perception, and memory, of many of those interviewed. The patient and caregiver
116 focus remained, throughout the interviews and focu s sessions, on available and future therapies, transplantation, and mental attitude. Diagnosis Re marks coded under Disease Etiology include a consistent, and marked, emphasis on the event of diagnosis, and importance of the individu als age at diagnosis. It became clear during the first patient focus group session, and in subs equent sessions, that the diagnostic event is central to an Alphas identity. Al phas narratives characterize (and divide) their life experience into the pre-diagnosis era and the post-diagnosis era. in terms of their identity as, first, a chronically ill person, and, then, as an Alpha, and participant in a well-defined community (Waitzkin and Britt, 1993). Depending on the qualit y and content of the diagnosis event, Alphas are either empowered shortly afte r diagnosis, or have an uphill battle to overcome the negative impression given them by physicians regarding thei r condition. It is a te stament to Alpha support networks, that the negative experiences were overcome by the majority of Alphas interviewed. Some of those interviewed experienced a positive diagnosis of Alpha-1 Antitrypsin Deficiency as a relief. However, a number of those interviewed had primary care physicians who were either uninformed, or resisted testing IJ (male, 62 years old): Rather than fear, the diagnosis made me feel relieved. It justified the feeling it was a genetic condition. LL (female, 52 years old): My primary care doc pooh-poohed the idea it might be Alpha1. EF (male, 60 years old): There was an aversion to tes ting in the 80s because there was no treatment. NN (male, 59 years old): My pulmonologist tested me for Alpha-1 but was reluctant since it was an expensive test. For many, the diagnosis explained family h ealth dynamics, or highlighted the probable cause of family deaths. At least half the res pondents had known about, or chose, testing because
117 of the previous diagnosis of a family member (u sually a sibling), or at the urging of a family member who was a doctor, or nur se, and aware of the condition. In general, however, even when actively sought by the individual, a positive diagnosis was frequently a negative, scary experience. Many were told by primary care physic ians, relatively uneducated in this condition, that they had 2 years or a few years to live, or that they would have to be on therapy, or go on supplemental oxygen within 10 years. UV (female, no age given): I felt instant is olation upon diagnosis. YZ (male, no age given): I felt terror associated with turning 47 [literature proposes the average mortality for Alpha-1 is 55 years old]. XY (male, no age given): I went on a grieving trip. CC (female, no age given): It was cruel, the way my di agnosis was given. I was told youll be dead in three years. A few individuals however, expressed, at least in retrospect, a more positive reaction to their diagnosis. This may be, as Ochs and Ca pp note (1996), an unconscious attempt to re-order past events into a meaningful experience thr ough narration. NO (female, 67 years old): My husband left me when I got sickbut I was happy to be diagnosed, although it led to poverty, because I was able to stop smoking and get some appropriate treatment. VW (male, no age given): I feel a sense of pride about being an Alpha.it is a unique fraternal group of people with a common genetic bond. EE (female, no age given): There is a true sense of family. Therapies Other com ponents of disease etiology, noted by all participants, were the therapeutic options available to thos e with this condition. There was cons tant reference to Prolastin, the first drug developed by Bayer Corporation (now known as Talecris Biologics, Inc.) as an augmentation therapy for those with lung disease related to their Alpha1, and frequent mention of the more recent pulmonary drugs available. This emphasis on lung therapies is because,
118 unfortunately, there are no pharm aceutical means of managing the liver conditions associated with Alpha-1, transplantation being the only curren tly available approach for those with severe Alpha-1 liver disease. The emphasis on lung thera py is also because the majority of Alphas are lung patients (over 90% of those di agnosed in the United States). Throughout the focus sessions, the Alphas engaged in extensive sharing, and advicegiving, related to specific therapies, the best transplant centers for lung or liver, devices, such as portable oxygen containers, and insurance covera ge. I observed that their physical condition is often understood as symptoms requiring specific dr ugs, rather than a clear understanding of the internal biological processes associated with Alpha-1. The sessions were a clear demonstration of how those more recently diagnosed are able to learn from Alphas on the same drugs, or using the same therapies as themselves, and how those further along in disease progression reach out to the newer Alphas to educate and inform. This wa s despite the fact that Alpha-1 includes lung, liver, and, even more rarely, skin disease, and that Alphas are frequently on completely different drugs. At least half of those interviewed, disp layed a sophisticated knowledge of therapies for their condition, and had accumulated information regarding many alternative, or complementary, therapies that might ease their condition, or improve their quality of life. BC (female, 57 years old): I met an acupuncturist who probably helped me as much or more than any person. Have you ever felt weig ht on your chest? That feeling went away and never returned! Transplantation In addition to the distinction between the experiences of lung and liver Alphas, the focus sessions brought out the distinction between those on therapy, those believing a cure is possible, and those considering the m ore drastic, surgical option of transplantation. Many of the Alphas seemed aware of the current ine quities in the allocation system and the potential impact of
119 transplantation on insurance, family income, and longevity (Lynch et al. 2006; Zamberlan 1992, Sharp, 2006). WX (male, no age given): CF [Cystic Fibrosis] patient s get transplants but Alpha-1 patients are lower on the allocation list. TU (male, no age given): Yeah, and the unfairness of the allocation scheme. Alphas shouldnt have to wait 4 to 4 years for a transplant. PO (male, 57 years old): The East Coast of the United States has the least availability of transplantable organs, especially lungs. PO seemed very knowledgeable about the United Network for Organs Sharing (UNOS) system of allocation, which prioritizes needs on a re gional basis. He suggested working with a nationwide (rather than regional) system that is not constrained by insurance. In his opinion, a nationwide system would avoid, territorial pissing matche s over organ availability. One Alpha drew a correlation between gender and choice of transplantation that may be of interest to pursue in further research: CD (female, 57 years old): The sex of the person (considering transplantation) makes a difference. I met another Alpha who takes infu sion where I do mine. He was already on disability and he was younger th an I was. I suggested going to rehab and he was totally resistant and thought of transplantat ion as an end all and be all. CD implied that, as a male, the other Alpha preferred the easy way out, which may simply indicate her exist attitude; howev er, it is an interesting suggesti on that gender be evaluated as a dependent variable, particularly as it relates to therapeutic choices.. Forms of Patient Empowerment The them atic topics broached during the focus group sessions in cluded components of patient empowerment identified in the medical l iterature. The primary components, information and awareness, advocacy and activism, and ident ity, were explored fully by each focus group. Of these three, information and awareness was the form most often chosen by Alphas and their family members, and medical professionals, as the key to empowerment. This suggests a clear
120 correlation may be found betw een the length of time since diagnosis, and the level of empowerment, presuming an increase in the amount an individual learns about their condition in the intervening time. This suppos ition was tested st atistically, and a moderate correlation confirmed (P=0.0367) (Figure 6-1). However, y ears since diagnosis a nd level of awareness proved to have a strong correlation (P=0.0003) (Fi gure 6-2), as did the to tal empowerment score and awareness (P=0.0001) (Figure 6-3). The total empowerment score was al so highly correlated with organizational leadership (P=0.0001) (Figur e 6-4) and with a positive diagnosis (P=0.0002) (Figure 6-5). Chapter 6, Quantifying Empowerment describes in greater detail how these variables were derived from the narrative analys is, and the methods used to characterize and measure them statistically. Information and awareness The process of becom ing informed was openl y demonstrated by the interaction among the Alphas who attended the focus group sessions. I observed how the participants maintained ongoing dialogues, throughout each session, to inform each other, and raise awareness of the condition for those more newly diagnosed. As descri bed in more detail in Chapter 6: Quantifying Empowerment, the Alphas coded as Level 3 or 4 aw areness displayed familiarity with web sites, and educational resources about Alpha-1, and, in general, seemed very well informed about laws governing genetic research, privacy regulations (s uch as the Health Insurance Portability and Accountability Act of 1996, or HIPAA), the rights of patients, transpla ntation allocation, who was expert in treatment of Alpha -1, available therapies, and, im portantly, how to connect with other Alphas. One Alpha brought a notebook with hi s entire health hist ory in chronological order, with each record neatly categorized, and color coded. He offered very useful tips to the others about how to manage their relations with a variety, or procession, of doctors and nurses, and still maintain control of their own disease management.
121 Many of those participating cite d the regional Education Days as helpful in their growing understanding of Alpha-1, and, in particular, the scientific talks given by experts in the field. These Education Days are organized by the Al pha-1 Foundation, Alpha-1 Association, COPD Foundation, and AlphaNet, and involve a speakers bureau of experts in Alpha-1 liver and lung care, bioethics, and transplantation. Alphas, and family members, also cited the positive experience of participating in breakout sessions at the Education Days, as being particularly educational. There was wide acknowledgement among the participants that the Alpha-1 organizations in the United States (Alpha-1 F oundation, Alpha-1 Association and AlphaNet), are pivotal in creating reliable, prof essionally validated resources for the community. There was also frequent mention of the National Institutes of Health (NIH), Centers for Disease Control (CDC), and other federal websites, and easy access to university and hospital websites containing accurate information about Alpha-1. If empowerme nt were measured solely on the basis of the level of awareness community members possess ed, one would have to rate the Alpha-1 community on the high end of empowerment. Networks and relations As the interviews and focus sessions m a de clear, information and awareness is empowering, but information and connection (networking) are more empowering. The participants noted, over and over, the importance of meeting othe r Alphas, and the support, help, and empathy they experience as part of the Alpha community. Other key interactions were frequently cited, such as the importance of fa mily relations, good communication with doctors, nurses, and other caregivers, and membership in a well-defined community; these factors may prove as important as information and awareness in defining empowerment. It is for this reason that the statistical analysis is designed to test the strength, and relation, of these variables in the construction of empowerment in the Alpha-1 community.
122 Attendance at local support group meetings wa s frequently cited as the first step in becoming more aware. BC expressed most poignan tly the importance of meeting other Alphas: BC (female, 57 years old): Oh, to walk in and there ar e people like you, where you dont stand out. I got to be myself. For someone to see me, not the O2! GG (female, no age given): At the first support group that I attended, I was asked what is my FEV-1 (Forced Expiratory Volume in 1 second), and I didnt know. After I had a transplant evaluation I began to pa y attention to what my FEV was. BB (male, no age given): After attending support group meetings I as able to ask more intelligent questions (of the doctor). Comments regarding the difference between Alpha-1 and COPD support groups were interesting, and confirmed the in itial hypothesis that there may be fundamental differences in how genetic, as opposed to chronic, dis ease communities percei ve, and experience, empowerment. HH (male, no age given): COPD patients are generally ol der and have more conditions, like cardiac problems. PQ (male, 57 years old): COPD patients talk about their condition in a whiney manner. Many of the study participants, including the majority of the physicians interviewed, felt that Alphas are more positive in their outlook than COPD patien ts. These statements are not borne out by medical fact, since many Alphas ha ve co-morbidities including heart conditions, but, the assessment regarding age is true, and ma y be an important factor in the sense of community, and purpose, experien ced among Alphas. They have mo re of their lives ahead of them than many older COPD patients, and, perhaps, are more willing to fight for better health, or a cure, than someone in their seventies or eighties. Six of the eight physicians interviewed noted their impression that Alphas were more positive and courageous than the other types of lu ng or liver patients they treat. It is not an opinion these physicians keep to th emselves, but is one that is often shared with their patients:
123 BC (female, 57 years old): I said something optimistic the first time I met Dr. XX and he responded, thats one quality of Alphas is that theyre optimistic. [He told me], You have more courage and heart [than my COPD patients]. Cost of illness The patient focus groups, and individual interv iews, identified a broad range of activities, attitudes, and events that Alpha s experienced as em powering. Howe ver, the cost of illness was mentioned in 4 of 5 focus group sessions, and duri ng 5 of 10 interviews, as an area where Alphas and their families feel the most un-empowered. Although the impact varied, according the socioeconomic situation of each participant, all those who mentioned co sts described their situation as a burden, or as having a negative impact on th eir family, and long term financial plans: AA (male, no age given): Patients are at the mercy of the economics. Prices for augmentation therapy are higher even though ther e are more products available. Companies dont listen. It is important for us to raise concerns. Alphas are more effective as a group. Several participants pointed to the only outlet th ey felt is effective regarding the cost of illness activism, advocacy as a group and the combined clout of more than one patient-centered organization. Individually, Alphas expre ssed that they are not empowered relative to the cost of their illness. Some are denied the benefit of available therapy because of the cost. LM (male, 52 years old): I didnt want to be tested, becau se I was afraid of the cost of medicine CD (female, 57 years old): I had insurance problems since I had pneumonia I had a rider on my policy. I was lucky later to get in surance. Work paid for my illness for a long time. But when I went on disability I had a problem. I was supposed to get on augmentation therapy but I didnt for awhilewhen I star ted on Medicare supplements were cost prohibitive for meProlastin was so expensive and I couldnt pay th e 20% co-pay. I was diagnosed in 2000 but [was] not on Prolastin until 2002. Although, the organizational lead ers interviewed noted that they feel empowered in relation to industry, the data from the interviews, and focus group sessions, suggests that this is not a feeling shared by the majority of Alphas in the community.
124 Discussion Analysis of the interview data, and focus gr oup sessions, resulted in identification of 3 core categories, and 19 descrip tive subcategories, related to an emic definition of patient empowerment. The Alpha-1 communitys se lf-assessment confirmed many components previously identified as comprising patient empowe rment, but, also revealed critical components that may be unique to this community, or more prevalent among well-defined communities, such as another rare genetic disease community. Identity, awareness, advocacy, communica tion, and control of ones own medical condition all show up in the data as central to empowerment as an Alpha. Several Alphas were emphatic about their own empowerment. When asked if they felt empowered, they responded quickly, and confidently: Yes, I can make decisions, I can ask good questions. I have a personality type that drives me on a quest for knowledge; especially when its about my own health. Yes, Ive received a lot of help from people in the community on line. I am not afraid to discuss issues. Yes, it stems from knowledge about this diseas e. Just sitting here I realize how helpless [patients with] othe r conditions are. This final remark confirms one of the origin al hypotheses, that a rare, genetic disease community may provide a unique strength to an i ndividual patient. The visibility of the Alpha-1 community structure, and the strong identificat ion individuals have as members of this community, may, therefore, hold the key to empo werment as an Alpha. These attributes are wonderfully summed up by the written comments sent to me by a particularly articulate Alpha, when she notes: JK (female, 64 years old): I am a lung patient and somewh at disabled in that I cannot do certain things easily, if at all, any more. I try not to dwell on eith er of these, however.
125 Rather, I try to focus on the community of whic h I am a part (both rare genetic disease and chronic disease) and try to be a patient activist and advocate for that community. For each person, patient empowerment means different th ings as we are all different people with different backgrounds, strengths, and weaknesses and attitudes towards life in general. I believe that all of these carry over and affect how we deal wi th our disease. For myself, I have always been a very active and positive person. So it was natural, after I got over the initial shock of my diagnosis, that I would s eek out other Alphas a nd try to find a way to turn that diagnosis into something positive. Additionally, it was and continues to be natural for me to find out everything I can about Alpha-1, my individual medical condition and how to best treat it through my own resear ch and regular conversations with my local physicians and my Alpha doc. I then try to act on that informa tion, including using supplemental O2 for exercise and sleep, implementing an exercise program, making certain diet modifications, limiting stress wher e possible, getting sufficient sleep, etc. I am empowered and other Alphas I know are. I participate in patient advocacy activities. My physician involves me in decision making about my treatment. I am better informed than some doctors about my condition and believe Alphas are more empowered when they know more about their condition. I believe Alphas play a role, along with medical professionals in defining what Alpha-1 is. The narrative analysis confirmed that many of the attributes cited in the literature as empowering exist in the Alpha-1 community, and, that those interviewed were either empowered, in the process of empowerment, or at least in a situation that was potentially empowering.
126 Table 4-1. Codebook development: identifying narrative themes CORE CATEGORIES Disease Etiology Forms of Patient Empowerment Networks and Relations DESCRIPTIVE CATEGORIES Disease Etiology (Pathogenesis and Treatment of Alpha-1 Antitrypsin Deficiency) Disease Symptoms Disease Causes Diagnosis Age at Diagnosis Disease Management Therapies Transplantation Patient Empowerment Forms of Patient Empowerment Information and Awareness Identity Advocacy and Activism Networks and Relations Networking Relation to Doctors Relation to Nurses, PAs, RTs Relation to Family Relation to Organizations Relation to Industry Relation to, Role in Research Cost of Illness, Cost of Research, Cost of Networking
127 CHAPTER 5 LINGUISTIC ANALYSIS OF MEDICAL ENCOUNTERS Language in the Medical Domain Language is at the h eart of healthcare and disease management, and each aspect of the encounter between a patient and healthcare provider from the in itial visit to a doctors office and description of symptoms, to the provision of a diagnosis, and discussion of health maintenance and disease management opti ons depends on communication. Although nursing journals have traditionally focused on the commun icative aspects of patient care, research since the 1960s indicate a growing awareness on the part of physicians, and medical educators, of the importance of effective dialog wi th, and education of, patients (D eveugele et al. 2001; Francis et al., 1969; Korsch et al., 1968; Levinson et al., 1997; Stewart et al ., 1995, Stewart, 1999; Makoul, 2003; Haas et al., 2006; Makoul and Curry, 2007; McDaniel et al. 2007). For these authors, effective communication has been linked to patient and physician satisfaction, increased adherence to treatment plans, more appropriate medical decisions, and quantifiably better health outcomes (Makoul and Curry, 2007). Based on these obvious benefits, acquiring interpersonal and communication skills are now c onsidered a core area of competency for physicians in the United States, and Canada (Makoul and Curry, 2007). Linguistics, therefore, seemed an appropriate theoretical framework for examining medical encounters within the context of empowerment in the Alpha-1 comm unity, and I conducted a literature review to determine a specific approach that would best ca pture elements of empowerment in the speech patterns of study participants. As this phase of the study differed from the interview and focus group session phase, I obtained additional IRB permission to obs erve medical encounters, and to conduct follow-up interviews with the physician, and Physician Assistant, who agreed to participate.
128 I conducted a linguistic analysis of these phys ician/patient interactions to discern the language components involved in empowering patie nts in the Alpha-1 community. The analysis was based on four distinct research components: 1) Participant observa tion of the interaction between a doctor and patients during office visits ; 2) observation of the interactions between nurses and patients; 3) ethnographi c interviews with th e doctor and Physician Assistant; and 4) ethnography of speaking analysis of the o ffice visit speech events, and interviews. Permission was obtained from a pulmonary physician, with expertise in Alpha-1, to observe his interaction with lung patients dur ing pulmonary clinic hours in a large teaching hospital. I know this physic ian well, and have worked with him over the past 9 years on numerous Alpha-1 projects and activities. Permission was also obtained from the Physic ian Assistant (PA), and Clinical Programs Coordinator for this physician, to observe her interactions with patients on three occasions in October, 2007. In addition, this PA agreed to pre-screen patients to assist in identifying those willing to be observed during their office visits. Follow-up ethnographic interviews were c onducted with the physician (ML, male, 55 years old), the PA (JB, female, 38 years old), an d another pulmonary clinical nurse associated with the Alpha-1 clinic (PA, female, 57 years old). The interviews we re designed to explore their perceptions of the medical encounter, and th e observed interactions, and to invite feedback on the preliminary linguistic analysis. Phone interviews were also conducted with key Alpha-1 informants, for additional feedback on the preliminary linguistic analysis, and for their independent observations of office visit dynamics. The data collected was analyzed primarily from an ethnography of speaking approach, but utilized additional linguistic approaches, in cluding consideration of Gricean principles of
129 cooperation, to determine appropriateness of quantity, manner, and relation aspects of a diagnosis; interactional sociolingui stics, to identify micro level linguistic choices, the uses of code switching, and Speech Act Theory, to identify the felicity conditions of the communications, and the specific reasons for misfires, and abuses, of the speech acts. Fieldwork in Medical Offices Observations were conducted of three separate of fice visits during the month of October, 2007. This included medical appointments with one Chronic Obstructive Pulmonary Disease (COPD) patient, and two Alpha-1 patients. Comparative observations were conducted to confirm whether a qualitative difference exis ts between how COPD patients and Alpha-1 patients relate to their condition, communicate with their physic ian and nurse, and react to diagnostic and treatment options. Although, this re presents a very small sampling of patients, follow-up interview questions, and contact with five key info rmants, confirmed that the dynamics observed were typical of th ese two types of lung patients. The observations, and data, from the thr ee encounters I observed did confirm the anecdotal evidence from both patients, and phys icians, that a marked difference exists. Additional research is planned for observations of a larger, and more statistically significant, number of medical encounters. However, the li nguistic analysis for th is research study was intended as an in depth examination of the dyna mic between an Alpha-1 patient and doctor, and a COPD patient and her doctor. Three examples were sufficient for me to understand why such anecdotal evidence exists, and to spot the key differences that are likely typical, and that distinguish Alpha-1 from chronic lung patients. The office visits were conducted in a pulmonary clinic associated with a large regional teaching hospital. Ones initial e xperience at the clinic is the of ten frustrating job of trying to find a parking place in one of three large parkin g garages. Once parked, a long walk led to the
130 newly constructed outpatient clinic facility. Th is walk can be significan t for lung patients, and represents one of many physical ch allenges related to their office visit. As I approached the clinic, I noticed several uniformed security guards stationed ne xt to the reception desk, in the entrance way, and a large number of staff, patients, and caregivers snacking in the cafeteria, asking questions at the reception desk, standi ng in line at the pharmacy, or waiting for elevators. I joined those at the elevators, and noted the often a nxious tone of the conversations around me for, this is a specialty care clinic where patients are ofte n referred when their primary physician cannot help them. It struck me that the entrance to the clinic, although not imposing in an architectural sense, still represen ts a departure from the patients normal life, and a visible reminder of their stat us as patient. It is a symbo lic, as well as physical, entrance into the domain of medical care. At the pulmonary clinic, at least 30 patients waited in the reception area. I approached the front desk, and identified myself as a res earcher with a pre-arranged appointment with pulmonary staff. I was then shown into an interior waiting area, separate from the patients waiting room. Once inside, I observed how busy the clin ic was the constant flow of traffic, the five staff members attending patients, taking physical measurem ents, making appointments, or serving as cashiers, and the inter-professiona l dynamics of staff members. Each physician, intern, nurse, or PA who entered the inner offi ces was greeted by other staff; and there was a considerable amount of phatic co mmunication in the inner reception area, such as chit-chat and gossip, but little medical discus sion. However, once JB arrived, I was taken into her work area, where I observed a great deal more medical talk, and professional intera ction between staff. The physician/nurse work area is a long narro w room, with four computers set up next to each other, shelving holding informational br ochures for patients, and bulletin boards with
131 information on medical coding, scheduling, and hospital regulations. Ther e are posters on the wall with medical diagrams, information about HI PAA rights, and reminders to check patients for certain conditions. During my visits, a physicia n or nurse or PA sat at each computer, pulled up electronic records, checked th eir schedules, and entered data. In this room, the physicians also make phone calls, such as calls to pr imary physicians to pass on their specialists diagnosis, and treatment plan. The specialists included both pul monologists and hepatologists, i.e., lung and liver specialists, based on the te rminology I heard, and the types of diagnoses discussed. None of the medical providers in the ro om seemed distracted by the flow of people, the conversations around them, or the phone calls; rather they all seemed used to conducting their business in a group setting. This seemed counter-productive to HIPAA regulations, which are intended to protect the privac y and confidentiality of individua l patients, as I overheard very detailed discussions of patient conditions, judgmental remarks by physicians about their patients, and personal remarks about each other, de spite the fact that I was present, and was not wearing clothing indicating medical status. I could only conclude that my invitation to sit in the work area was sufficient, tacit authorization to permit me to overhear conversations, and that the other medical providers assumed I was one of the team and, therefore, privy to confidential remarks. It may also indicate how inured they are to other staff, or that their undivided focus is on getting through their case load. Although, the majority of conversations were related to medical cases, I did note additional examples of phatic communication in the work area, as when a physician arrived who obviously knew JB and ML, and who spent approximately ten minutes describing her husbands planned research in Europe, her sear ch for a house-sitter, and personal remarks on health and upcoming holiday plans. It occurred to me that these conversat ions were taking place
132 during the time scheduled for patients, and expl ained some of the (unnecessary?) delay patients often experience with their physicians. ML and JB conferred for approximately 10 mi nutes regarding the af ternoons schedule, and the patients they would be seeing, and consu lted the computer for relevant medical records, and previous diagnosis and treatment of these patients. JB also spent some time explaining to me who I would be seeing, how long they had been a patient, and the general purpose of their visit on that day. For two of the three patients I observed, JB asked the patient if they would participate in a research study, and when they agreed, introduced me. On the third occasion ML saw the patient first, and introduced me. On each of my three clinic visits, the patien t readily agreed to be observed, and seemed to understand that I would not otherwise partic ipate in the discussion. However, it was obvious that they consented without th inking too much about it, and di d not question the fact that a stranger would be observing their office visit. Both ML and JB opined, in their follow-up interviews, that patients expected to be observed because it was a teach ing hospital, and that this is a common occurrence (at least once a month interns, and medical students, attend office visits as part of their training). In fact, during the second and third office visits, an intern also observed the proceedings. When the intern attended, the physician spent additional time in the work area explaining the cases to the intern, an d talking about Alpha-1 Antitrypsin Deficiency. ML also described to the intern why he had become a pulmonologist, with a focus on Alpha-1, and, in his interview with me, explained that this was a way to stimulate interest in pulmonology among young doctors, and a way for him to mentor the next generation of physicians.
133 After consenting to my presence, JB brought me into the office, introduced me, and began her interaction with the patients. She as ked about their symptoms, referred to previous office visit notes to follow-up about their treatment plan, and took notes of the responses throughout the conversation. JB was openly sympat hetic, like other nurses and PAs I have observed prior to this study, and responded to th e patients complaints with both verbal and facial expressions of caring, concern, and comm iseration. She spoke in a warm conversational tone of voice, and used a minimum of medical terminology. She expressed her questions in terms of the patients home activities (i.e., did you have trouble breathing going up the stairs?), rather than asking fo r a measurement of FEV (Forced E xpiratory Volume), or if the patient had dypsnea, the medical term for breathlessness. JB then asked each patient to step onto the examining table, and took measurements of their breathing, lung sounds, condition of throat, ears and nose, blood pressure, and heart rate. She next made diagnostic statements based on reference to previous illnesses or treatment s, in addition to the current observations, remarking sounds like you have an infecti on, or seems like you may need to go on antibiotics again. These diagnostic statemen ts were provided how ever, with the tacit understanding that the doctor woul d have to confirm the findings for a formal diagnosis to be made. At this point JB left the room, noting she w ould confer with the doctor, and he would be in shortly. ML and JB discusse d the case outside the room for approximately three minutes. ML then entered the room, and in each separate case, warmly greeted each of the three (female) patients, and then turned toward me and remark ed, THIS is my FAVORITE patient. He spent a few minutes joking with each patient, and their accompanying spouses and commenting on
134 previous encounters. He took this joking tone with each patient, and, noted during our followup interview, that it was the same manner he adopted with his male patients. Although, three informants, and several pa tients in focus group sessions, had commented about their frustration with the re petition of questions by both the PA and the physician, ML referred to JBs notes extensively, and asked additional, a nd different, questions of each patient. He delved, for example, into the family dynamic, questioning how many people the patient lived with, their ages, and then re marked, when one patient admitted to babysitting for her grandchildren, You cant be doing that just say no! I unde rstand they expect you to, but you remember how you got ill before.PLEASE dont do that. Youre more susceptibleyoull get sick if you do that. He was emphatic, and, although he said j ust say no in a joking tone, obviously referring to Nancy Reagans infamous exhorta tion against drugs, he was clearly giving the patient a strongly worded professional admonitio n about her exposures, and their connection to illness episodes. He made other suggestions, like wearing a mask around sick family members, and washing hands at least eight times a day. He asked all of his patients about their exposures, what medications they were curre ntly on, and whether they had ha d the flu shot that year. He also asked about the state of th eir breathing, the color of their sputum, and, interestingly, asked about what type of furnace the patients owned, an d whether they cleaned the filters. One patient said she did, and he responded good for you, GOOD for you! He also asked about weight gain (obesity being a contributing co-morbidity with both heart and l ung disease), and about any weight loss (a visible sign of prog ression toward end-stage lung disease). ML gave each of the patients a physical exam, noting throughout what he observed, and what it meant. He used more medical termi nology than JB had, sometimes explaining his words, but, often not. At one point, he remarked that he knew the patient was still sick because
135 he saw an elevated level of eosinophils in her blood, noting it was an indication of the inflammatory process. At that point ML had to step out of the office for a moment, and, although I had committed to not interacting with th e patients, this patient kept trying to make eye contact with me, and seemed very interested in the notes I was taki ng, so I broke down and remarked, gosh I cant even spell eosinophils .do you know what it means? She replied that it was something in her blood, which, although fo r me would not be a sufficient explanation, apparently was enough information for her, and she did not subsequently ask the doctor to explain it further. I, however, que stioned him about it in the follow-up interview, noting that the patient clearly did not understand his terminology, and asked his purpose in using it. He replied that his interactions with both chronic a nd genetic lung patients were long term, ongoing relationships, and that patients learned what the words meant ove r time. He repeatedly noted that he encouraged his patients to become more empowered a nd, when I asked if that meant they had to learn medical terminology, he said yes. After ML had given his diagnosis, he prescr ibed a treatment plan (which JB wrote up, and entered into the computer). He noted, laughingly, how JB doesnt let me keep a prescription pad. She thinks then Id write prescr iptions (without her consent). ML frequently made joking remarks that indicated his reliance and trust in JB, and, it was a common theme in all three office visits. He often in cluded her, as well as the inte rn, and I, in the joking banter, and, through his frequent mention of JBs key role in the patients care, made the two way interview with the patient seem like it involved three voices. In the follow-up interviews, both ML and JB noted the many advantages their good communication, and cl ose coordination, had for effective medical care. They both mentioned that they had, ove r time, arrived at an optimal procedure for dealing with disagreements they ne ver did so in front of patients, but strove to
136 maintain a single coordinated voice in the office vi sit. This suggested they had had a number of disagreements, and, when asked if the physician al ways had the final say, ML said yes, but JB said many times ML came to agree with her when they disagreed. Gi ven these conflicting statements, I conclude that the traditional hegemony within the ranks of medical caste system is not disrupted JBs authority still lies in th e physicians trust in her, but, ultimately, the physician has the final say. The office visit concluded with an elaborate coda: first, ML quizzed each patient about things he had said during the visit, Okay young lady (addressed jokingly to a woman in her sixties) how many times a day do you have to wash your hands? Eight times a dayyou pass! You were listening. Youre the worlds best patient! Next, both ML, and then the patient, repeated the treatment plan, and medical doses. ML then asked if the patient, or spouse, had any questi ons. Although, the two Alpha-1 patients had asked questions, and offered comments, throughout their visits, it was dur ing this phase of the visit that they showed a noticeably more active approach than the COPD patient. Each Alpha had several questions to ask at this point in the office visit each asked about new drugs, about drug interactions with their other me dications, and if they were elig ible for clinical trials of investigational drugs. One also asked how she might improve her eligibility for research studies. In each case, my hypothesis that Al pha-1 patients are more empowered, and more willing to take control of thei r medical condition than chronic lung patients, was borne out by the individuals I observed. In the follow-up interviews, both ML and JB confirmed that this was a typical difference between COPD and Alpha-1 patients, and that less than 20% of COPD patients asked any questions, much less were kn owledgeable enough to request participation in research.
137 Medical and Social Cont ext of the Office Vis it The office visits ended on a cordial note, but for both the patient and the medical team, the visit represents only a sm all portion of their entire experience. Once ML and JB had finished seeing the patients, JB completed th e notes of the visits, and ML telephoned the primary physician, who had referred the patient, and spent at least 5 minutes on the phone explaining the diagnosis, results of tests, and treatment recommenda tions. Prior to the visit, the physician had read the results of laboratory blood work, sputum analysis, x-rays, CT scans, and/or results of breathing test s. He also consulted medical ar ticles, and websites, for current findings and recommendations (dur ing my first visit, he spent several minutes surfing medical websites to find out how often to give a pneumoni a shot), spoke with the primary physician and other pulmonary specialists about the case, and di scussed the treatment plan with JB, and with another nurse in attenda nce in the clinic. The patient, on the other hand, had to comple te additional paperwork, get a flu shot, make another appointment, pay for her visit, take the long walk back to the parking garage, and find her car. For many patients, seeing this part icular Alpha-1 expert involves traveling up to 1,000 miles from home by car or airplane, staying in a motel near to the hospital, and disrupting the normal work and home life. Both of Alphas I observed had traveled out of state for their yearly exam, and both were accompanied by their spouses. This meant that their spouses work and home life was also disrupted for up to 4 days by a hour office visit. The physician aptly described the office visit as the tip of an iceberg. For, like an iceberg, the majority of the activit ies associated with the office vi sit occurr beneath the surface, or behind the scenes. For the phys ician, this meant extensive readings, and research, to stay abreast in his field of expertise, and the ti me it took for him to learn how to communicate medical information effectively. I had first hand experience of the evolution of this physicians
138 communication style, and observed that he was most effective when he communicated medical conditions as metaphors, or analogies, that the patient could understand, rather than when he used medical terminology. Given that both the physician and the patients office encounter is the tip of an iceberg, I began to visualize the medical encounter as the point where tw o cones of activity, two very different domains, come together for a brief pe riod of time. ML, JB, a nd the key informants I contacted all agreed with this view of the office encounter as the point where the medical domain and personal domain meet. Figure 5-1. Where worlds collide: the office visit as tip of the iceberg Physician Interview I held follow-up interviews with ML, JB, PA, a nd five key informants. The questions in MLs and JBs interviews centered around five topics the differences between COPD and Alpha-1 patients, questions about medical procedures, questions a bout how much patients understand of their condition, and questions about language use, and my linguistic analysis of their medical encounters (see Appendix B). All those interviewed agreed that there are noticeable differences in how much Alpha-1 patients and COPD patients know about their illness, and how willing they are to take control of their condition. This may be explained by the fact that Alpha-1 patients tend to be younger than Physicians hospital duties Patients experience of illness Office Visit
139 COPD patients, are less prone to other conditions associated with aging (i.e. dementia), or they feel obliged, because of the genetic nature of their condition, to do something for their childrens sake. Based on the results of the in itial research in this community, one may also cite the strong identity these patients have as a community, and the wealth of resources available to them about their condition as components of th eir heightened empowerment. JB noted that less than 20% of COPD patients as ked any questions, as opposed to the 90% of Alpha-1 patients who come armed with a list of questions for their physician. JB made an interesting distinction regarding gender differences in coping, and the relation of socioeconomic status and empowerment. She noted that socio-economics was a greater factor for COPD patients, with those less advantaged tendi ng to be less empowered, but it was less of a factor with Alpha-1 patients, all of whom had access to information and resources. Questions in the interviews about procedures were very enlightening, and provided insight into the reason why a nur se or PA saw a patient first, followed by the doctor, and the historical roots of this practi ce. ML explained that the role of PA had arisen during the Vietnamese War, when orderlies received exte nsive training to assist physicians in field hospital emergencies. Upon their return to the United States, these former orderlies were recognized as being more highly trained than nurses, and the medical societies pushed to utilize this valuable corps of medical trainees. The role of PA was created, and certification offered to returning veterans with this type of experi ence. Although, in the 1970s and 1980s the majority of PAs were male, in more recent years the majo rity are female, and they are rapidly replacing nurses in medical encounters as the primary gatekeeper to the physician. When asked, why is it necessary to see the PA or nurse first, ML and JB both explained it served, ideally, as a tremendous time saver for the physician. When conducted properly, the
140 PAs often lengthy interview with the patient is transcribed into abbreviated medical terminology that the physician understands as a kind of shorthand, embedded with a precise biotechnical meaning. Although, th e physician and nurse agreed in their assessment of the utility of these preliminary discussions with a nurse or PA, patients di d not share this view. Instead, several of those interviewed had expressed frustration with this aspect of a medical encounter unnecessarily time consuming and re dundant. One male patient (62 years old), in particular, dwelt on this topic in his interview, and despite feedback from me regarding the biomedical justification, continue d to experience the imbalance in waiting times as a sign of the physicians dominance. When asked if the symptoms the patient descri bes are a list or a narr ative, JB said she wished it were a list, but it is often a long, rambling, disjointed narrative that sh e has to pick through for the symptoms, and physical conditions, th at are meaningful as indicators of illness. Her view of her job is to summarize, condens e, and standardize the information provided by the patient so that ML can respond with the appr opriate diagnosis and treatment. ML noted that a PA could, when properly trained, communicate what is important for him to know about the patient, and that when he relied on the PA he c ould avoid repeating her qu estions to the patient, and, instead, focus on a treatment plan and recommendations. Another area of agreement among those inte rviewed was the level of understanding a patient should have. Both ML, JB, and the Alpha1 patients felt it imperative for the patient to learn as much as they were capable of unders tanding, although they did not agree with how much medical terminology was necessary. They di d all agree, however, that patients should consult with other patients when they needed help to understand techni cal topics, and that a nurse, or PA, often played the role of translator for the patients. Although, this seemed to
141 confirm the traditional dominance and centrality of the medical domain in illness experiences, I realized that by becoming a pati ent, Alpha-1 and COPD patients become players in the medical domain. As research has demonstrated, patients negotiate their own ca re better if they can communicate in the native la nguage (Makoul and Curry, 2007; Le ps, 1995; Teff, 1994). It is telling, therefore, that the COPD patient observed did not seem to share the Alphas drive for knowledge, as evidenced by her lack of understanding about the medical terminology used in her office visit. This COPD patient seemed to lack any curiousity about the things she did not understand about her own condition, and the ne cessary assertiveness to resolve her understanding through questions. My final set of questions explored the linguistic aspects of the medical encounter, and asked for feedback of my linguistic analysis. When it was explained, all those interviewed, in this phase of the study, acknowledged that they code-switched during an office visit (switched between types of vernaculars pa rticular to a domain). JB noted her approach was to use lay language almost exclusively; her code switching was primarily wh en she related information to the physician. ML, although I observed how often he code switched, over estimated the amount of lay language that he employed. ML said it is important for the patient to understand the medical procedures they experience, and the terminology associated with it. Still, he showed little self-awareness of how much backgr ound had gone into his own understanding of biological processes, and how terms he used to condense medical information were embedded with years of study and practice. The three patients interviewed in th is phase of study, and several others in previous focus group sessions also thought it important to learn medical terminology. One Alpha noted he was aware th at he code-switched much like a second language learner speaking in th eir newly acquired tongue he used medical terminology to the
142 extent of his knowledge, and then code-switche d back to lay language when he did not know the medical term to use. Results Ethnography of Speaking Analysis The interviews concluded with a presentation of the prelim inary linguistic analysis, and an invitation to augment, refute, or otherwise provide feedback on the analysis. The presentation included a brief ove rview of the ethnography of speak ing approach, an explanation of the SPEAKING acronym developed by Dell Hy mes in the 1960s (Hymes, 1962), and then, the following analysis of the medical enc ounter was read, and a copy given ML and JB. S The setting is institutional (hospital) and the constraints on the speech event are institutional and legal, not personal constrai nts. The medical setting focuses the speech event around exploration of th e physical condition of the patient, although related issues (familial, social, and economic) are also explored in the visit, they are considered only in relation to the physical. P The participants in the speech event are limited to the patient, their spouse, parent or caregiver, the physician, PA or nurse and any permitted observers; HIPAA regulations, regarding the privacy and conf identiality of patients, has tightly controlled who may overhear or observe these proceedings and the formal institutional permissions needed for such overhearing (i.e, IRB approval). E The ends or goals are different for the patient and the physician. The physician needs to communicate vital biomedical informati on to affect an amelioration of physical symptoms, or eliminate infection or other forms of disease. The physician may also be providing training for medical students, gathering data for research or fulfilling institutional requirements for service. The speech event is completed when the information is provided. The patients goals are to end breathlessness or relieve an exacerbation, i.e. obtain care for their physical symptoms. They may also want to address fears or uncertainties or unde rstand why and how the symptoms arise or other information related to their condition. Another end for patients is to translate the biomedical information into understandable explanations for their physical symptoms, and through understanding the biomedical information cope better with their condition, be more compliant with treatment regimes or help other family members cope with related illnesses. The speech event may end before they have achieved understanding. A Although the purpose of the office visit wa s initiated by the pa tients condition, the speech act sequence is fully controlled by the medical staff. The visit is generally limited in duration and preceded by often long waiting times on the part of the patient; it is
143 conducted primarily as a close-ended question and answer session with fixed turn-taking and the absence of overlap in speaking. The speech act sequence of the 3 office visits observed included: 1. JB greets patient and spouse as they enter the examining room. 2. Greetings JB and patient continue to exchange greetings in a conversational, friendly manner 3. Questions from JB to patient regarding pur pose of visit, symptoms since last visit 4. Narration by patient of their symptoms, deteri oration or improvement since last visit, other medical problems a ffecting their lung condition, 5. Physical exam by JB use of in struments, some medical terminology 6. JB prepares notes of visit for permanent medical record 7. JB consults with physician out of hearing of patient4 8. ML enters examining room 9. Greeting joking manner, frie ndly, personal a nd interactive 10. Reading notes, questioning JB code switch medical terminology 11. Questions from ML to patient (and occasionally to the caregiver) code switch to mix lay language/medical terminology, interview style 12. Answers from patient lay description of symptoms, activities, limited narration 13. Responses from ML mix empath etic, stern, joking, use of metaphors 14. ML writing notes, and/or referring to test readings, computer screen non verbal 15. Additional questions from ML to patient 16. Additional answers from patient 17. Additional responses from ML 18. Writing prescription(s) formal medical style, legally bound documents non-verbal 19. Diagnosis serious formal pronouncement by ML primarily medical terminology 20. Treatment recommendations serious form al directives primarily in lay language 21. Questions/comments from patient re peating and restating recommendations, questions about proposed treatment 22. Closing remarks by ML indicating end of interview and patients turn-taking for closing questions, joking manner 23. Questions from patient issues not discusse d in diagnostic interview or of interest to patient and not directly related to their symptoms, additional questions 24. Closing remarks personal, friendly K The keys employed included a broad range of serious talk, empathetic responses, joking, sarcasm, and compliments. The physic ian used joking as a phatic communication (to achieve rapport and relax the patient), and, also, to signify a level playi ng field with the patient (patients could also make jokes or respond to a joke in the same manner). I Instrumentalities included spoken exchanges, writing of medical records, writing of prescriptions, use of computer to check information and enter information, use of 4 Although this was not observed, the assumption is that it is conducted in a formal professional manner utilizing medical terms exclusively
144 instruments to determine heart rate, s ound of breathing, level of congestion and inflammation in ears, nose and throat N Norms of interaction were asymmetrically medical. The inferences were primarily medical and turn-taking was determined by eith er the PA or the physician. The balance of power in office visits is determined by the cen trality of knowledge in medical encounters. G The genres included medical terminology and lay description of il lness; the event although at times friendly and joking, was not casual speech but a provision of information based on a need to improve a nega tive state. The event was structured around resolving a problem and was therefore more serious than the outer manner of speaking might imply. I expected some reaction to Norms of Inte raction, but, surprisingly, neither ML, JB, nor the two Alpha-1 patients initially objected to any of the points above. However, the physician did comment, after a few moments thought, th at, although knowledge was central to the encounter, his goal is to teach the patient how to be empowered, and, that over time most became empowered by learning more about Alpha-1. He also repeated a comment he had made earlier, that although some patie nts did not understand the medica l terminology during the first visit, that he knew them over a long period of ti me, and that allowed them to assimilate the information, and learn over time. He further as serted that he had re fined, and perfected, his manner of speaking to patients, and, was confiden t that it was effective. This assertion might have sounded arrogant on face value, but had been previously corroborated by at least six patients of his, who I had interviewed during my research, and who gratefully attested to his ability to explain complicated me dical information that other phys icians had not been able to explain to them. Discussion Although the m edical encounter seemed at tim es inappropriately technical, and the medical staff firmly controlled the proceedings, ML and JB both communicate in ways they believe will empower their patients, and enable the patients to take greater control over the
145 course of their treatment. Thei r use of medical terminology is not done to maintain their control over knowledge, but to draw the patient further in to the medical domain, and to a more precise understanding of what is happeni ng to their body in biological terms. And, in fact, the two Alphas observed in their care, and many more w ho were previously interviewed, consistently demonstrate a greater understand ing of the biological processe s affecting them than chronic lung patients, and come across as effectively as sertive with their con cerns and questions. There is a risk, however, in establishing the bi omedical explanations for this particular condition, or any illness, as normative, as it may silence alternative ways of talking about disease, and over standardize the individual experience. The centrality of biomedical explanations may also valorize the physical symptoms ove r the emotional or psychological experience. However, in the Alpha-1 community the personal, emotional, psychological, and economic impacts of Alpha-1 are freely shared with other patients, and family members, in an atmosphere of strong community and institutiona l support, and the possibility for empowerment in both medical and personal terms is strengthened. Alphas, in general, seem more willing to achieve communicative competence in the medi cal domain in addition to exploring their common experiences of illness, and its impact on th eir daily lives, with other Alphas, in their own terms. This phase of the research confirmed that variation may exist in how genetic lung patients and chronic lung patie nts communicate about, and unders tand, their condition, and how medical providers communicate about it to them. However, the question whether such variation disrupts, or endangers, the traditional hegemony may be moot after observing how empowerment exists in more than one realm of experience, and has more than one form of expression. Empowerment of patients may, ther efore, not mean less power for medical
146 providers, as much as it signifies a more open, an d central, role for the patient in defining the condition, and coping with it. The differences I observed, between the phys icians dialogues with the two Alpha-1 patients compared to his dialogue with the COPD patient, was so marked that I conclude, even from this limited data, that the ideal conditi ons exist in the Alpha-1 community to promote patient empowerment in both the personal and me dical domains. However, further investigation of a larger cohort is necessary to confirm these findings, and delineate the specific forms of interaction, and communication, that will prom ote such empowerment for other types of patients. According to the Centers for Disease Contro l, COPD affects millions worldwide, and lung disease is quickly becoming a leading cause of death worldwide. It would be useful to confirm the communicative components of empowe rment, as exemplified by Alpha-1 patients, and the Alpha-1 community organizations, towa rds improving the possibility for empowerment, and the related benefits of increased awareness, preventive action, and disease selfmanagement, for this larger body of sufferers.
147 CHAPTER 6 STATISTICAL ANALYSIS Unpacking Empowerment into Definable Components Quantifying patient em powerment is the goal of this study, and the theme of this chapter. In Chapters 4 and 5, I describe how the data from focus group sessions, interviews, and medical office visits was gathered and analyzed qualitatively. This chapter focuses on how a complex concept like empowerment was unpacked into its components, how the qualitative data was translated into quantitative data and how the data were analyz ed. The final results of the statistical analysis are assessed against the qualit ative results, and demons trate the validity of the hypothesized relations, and successful identifica tion of appropriately de fined variables. The final results are also considered in relation to future research questions and goals, specifically, whether the load scores, or total empowerment scores developed in this study are representative of empowerment, and can serve as accurate data for correlation analysis with quality of life (QOL) scores. An important premise underlying the statistica l analysis is the va lue of identifying the key, or intervening, variable(s) from among the components of empowerment identified in the narrative analysis. From the narr ative data, it was clea r to me that time since diagnosis may be more effective at confirming the qualita tive impressions of the cohort than other components, or attributes of empowerment. By focusing on, and testing, the relation of the variable time since diagnosis to the other com ponents, I was able to identify what may be the intervening variable, and eliminate several subdomains, that essentially capture the same information, thereby refining my definition of empowerment. Factorial analysis, described below, ha d demonstrated that the components of empowerment grouped into two sub domains, as hypothesized. In one of these domains, the
148 components were so tightly correlated that havi ng two separate questions, or components, was redundant two components, such as organizationa l membership and participation in research both characterized the sa me feature. In the second domai n, at least one component, advocacy, had no association with a total empowerment sc ore, and it did not track with the other components. Similar to Clark et al. (2004), who proposed use of a single item measure for disability, I sought, through the st atistical analysis to confirm which, if any, of the components of empowerment might represent the core meaning of empowerment. However, like Fries et al. (2006), I ultimately refined the number of sub dom ains to several attributes, or markers of empowerment, that together contain the maxi mal information for defining empowerment. In addition to the identification of an interv ening variable, and the factorial analysis of domains, the statistical analysis also includes de rivation of a total empowerment score. As the nine potential domains of empowerment appear ed equally important, equal scores were assigned to each domain (see Table 6-1), and to taled. The total empowerment score was then analyzed against individual components of empo werment, to demonstrate the relation of the various sub domains in the extent of empo werment. An additional value of the Total Empowerment Score is that it will permit comparis on with QOL scores, a future research goal. All the final statistical results suggest that the qualitative data is a very successful definition of empowerment, and that the co mponents, or sub domains, identified were sufficiently refined so as to provide an accurate picture of empowerment. With such results, future surveys can include only those questions necessary to accurately measure empowerment. Identifying Appropriate Measurement Tools Patien t empowerment is a complex social construct similar to Socioeconomic Status (SES). SES uses combined measures of inco me, education, and occupa tional prestige, since none of these individual measures captures the complexity of the idea of SES. Patient
149 empowerment, likewise, should be measured with a complex instrument (or scale) made up of several indicators together forming a composite measure of one underlying concept. I chose a Guttman scale, since the components of empowerme nt seem to line up in a particular pattern indicating a unidimensional variable (Guttma n, 1950; Peregrine et al. 2004, Handwerker, 1996; Johnson, 1995; and Beddington, 1977). Johnson (1995) suggested using a Guttman scaling for scoring disability, and its applicability in the co ntext of health surveys. In addition, I chose a Guttman scale because it is inherently hierarchal, and could capture the evolutionary order of components of empowerment (Peregrine et al. 2004). To populate a scale with components of empowerment, the demographic and investigational variables identified in the narrative analysis were assigned quantitative va lues (McLellan et al. 2003). However, prior to populating the Guttman scale, decisions had to be made regarding how many, and which, variables to use among the severa l themes identified in the community, and how to group them into sub-domains. Readings in the medical and epidemiological literature proved helpful as a large body of literature exis ts describing the development, adaptation and use of QOL instruments to measure complex parame ters relating to the health/disease spectrum (Dowson et al. 1999; Cheng et al. 2000; Bloom, 2001; Gunzareth et al. 2001; Hajiro et al. 1998, 2000; Handwerker and Wozniak, 1997; Jones et al. 1991, 1992; Ketel aars et al. 1996; Knebel et al. 2000; Okubadejo et al. 1996; Osman et al 1997; Renwick and Connolly, 1996; Seemungal et al. 1998, Tu, 2006; Wijksta and Jones, 1998; Wilson et al. 1997; Zamberlan, 1992). QOL research is relatively unique among biomedical research in that it recognizes the value of nonmedically derived data, and the importance of standa rdizing the translation of this type of data into numeric values. In addition, this type of literature is mo re accessible and understandable to me, as an anthropologist, and complements my anthropological research of a disease
150 community. For these reasons, QOL studies were chosen as the model for my research, and represented a well worn bridge sp anning the qualitative/quantitative divide that I feel is safe to cross. The research on QOL instruments explor ed how to identify appropriate, and representative, items to be used to measure the qualitative experience of disease. Clark et al. (2004), for example, proposed use of a single it em measure for disability, however I thought it more likely that I would identify a somewhat larger item pool that would provide clearly defined, reliable, flexible, quantifiable, sub dom ains, and had maximal information content (Fries et al., 2006). To achieve th is maximal content, several of the QOL studies stressed the value of utilizing patient reported outcomes (PRO s), or triangulating patient, physician, and nurse data. PROs have now b ecome standard study outcomes in medicine; this previous research validated my use of both patient and caregiver data in this study, and situates my anthropological work within acceptable biomedical parameters (Fries et al. 2006; Goodacre, et al. 2007). Fries, Goodacre, and subsequent researchers have validated the use of QOL instruments to measure the full spectrum of a patients e xperience. But, importantly, they have also demonstrated the usefulness of adapting QOL instruments for specific medical conditions (Rat et al., 2007, Goodacre et al. 2007, Fr ies et al, 2006, Swigris et al, 2005, Fries, 1983, Grunfeld et al, 2008, Graham et al. 2008, Wyrwich et al. 2007, 2006; Tsukino et al, 2002, Reardon et al 2006, Alvarez-Gutierrez et al, 2007 ; Hajiro et al. 1998; Katsura et al, 2007). The research described by the majority of these studies was conducted among lung patients, primarily COPD patients. The approaches used in these studies served as a useful model for how I might incorporate my qualitative data into a quantitative assessment of the Alpha-1 community, and,
151 in them, I found well-tested techniques for adapting my measurement(s) of empowerment specifically for the Alpha-1 community (Fries et al, 2006, Goodacre et al, 2007, Handwerker, 2003; Swigris et al, 2005, and Grunfeld et al. 2008.) Utilizing the adaptive techniques, I focused on issues unique to the Alpha-1 community to ensure item generation for future surveys that would actually measure empowerment. Modeling my research on QOL studies, and incorporating techniques for measurement widely accepted and used in the medical co mmunity, has already made my work more accessible and meaningful to Alpha-1 research ers. Based on the grant review comments I received for phase 2 of my empowerment studies my work is, and will be, accepted as useful information derived from a new perspective, but firmly situated within the body of research on patient-physician dynamics in medical care. In addition, as noted previously, using QOL as a model will ultimately allow comparison between th e data from this study and QOL measures. Quantifying Empowerment Quantification im plies measurement of numeri c values. The research design, therefore, included the gathering of basic demographic da ta and narrative responses that could be translated into numeric values, and measured quantitatively. The qualita tive data also included observation of study participants, and, by a reiter ative process, new data was compared against the original scale of empowerment (Figure 1-1) Over time, and in different venues, a focus developed on observing participants stage of aw areness, understanding of their condition, level of involvement/networking in the community, and attitude about their di agnosis. The attributes comprising personal empowerment were clarified, a nd revised, or expanded, to more accurately capture essential variation in the process of empowerment. The components I had hypothesized as indi cative of empowerment (Figure 1-1), were refined through preliminary statistical analysis and the components Access to resources and
152 Disease self-management eliminated. Since, it was determined that all those who participated in the study had access to some resources, this ceas ed to indicate any vari ance in the cohort. I also began to understand disease management, not as an investigational variable, or stage of empowerment, but as an outco me of empowerment. Althoug h, there was variance among the study participants in the level of their disease self-management, it seemed to be the result, not cause of their responses to the other domain s. However, the hypothesized domain, personal empowerment, was not only comprised of awareness, research participation, and organizational membership, it also seemed dependent on leve ls of networking. It seemed appropriate to quantify levels of networking as a variable, and include ye s/no responses to three questions aimed at clarifying the level of fam ily vs. level of community support/networking. I had data for 17 of the 34 Alphas on the number of Alpha-1 community members they knew, (their Alpha network), and responses from 49 out of 50 pa rticipants on whether or not family support was available. From the narrati ve data, I noted a clear distinction between these types of support, and determ ined it would be valuable to m easure, rather than combine, a score for each of these types of support. Attitude about diagnosis, or type diagnosis, was also added to the final list of empowerment sub-domains, as an indicator of th e potential for empowerment at an early stage in the patients experience. I assigned a ye s/no value to each participant based on their comments, or longer narratives, describing the di agnostic experience as either positive or negative. Diagnosis emerged as a central expe rience for Alphas, and their families, and all participants, except one, provided comments on their experience. From these comments, I discerned a difference in how qui ckly individuals moved beyond th eir early fears, and denial, and got involved with the community, or thei r own education about Alpha-1. This difference
153 often seemed to be directly related to the quality of their diagnosis, and how positive, or knowledgeable, (or negative, and unhelpful), thei r medical provider was in the initial dialog about the diagnosis. This aspect of temporality, and the progressi ve nature of empowerment, suggested the final investigational, and possi bly interventional, variable, Years since diagnosis. I was particularly interested in whet her the statistical analysis woul d demonstrate a strong correlation between the time from diagnosis to level of awareness, (r ather than a correlation with empowerment as a total score), and felt the qua litative assessments were validated when the correlation between years since diagnosis a nd awareness proved hi ghly significant (P = .0001) (Figure 6-2). However, the total empowerment score and level of awareness were also highly correlated (P = .0 001) (Figure 6-3), and, in addition, e xplained 70% of the variance, as opposed to the 18% variance in level of awaren ess and years since diagnosis. The statistical analysis demonstrated two othe r relations that explained 70% and 72% of the variance Alpha Network and Total Empowerment Score, and Part icipation in Research and Alpha Network. Although, level of awareness was the most well developed measurement in the study, and seemed to capture the essenc e of personal empowerment, I even tually chose not to use it as the only marker of personal empowerment based on the statistical results described above, and a reassessment of the interview data. DE (male, 68 years old) had been diagnosed with Alpha-1 36 years previously, making him one of the fi rst people diagnosed in the United States. However, his level of awareness, despite his advanced educational level (PhD), was only a 3. Despite his familiarity with biology, and his unde rstanding of how Alpha-1 affects his body, he had not synthesized his knowledge, had little kn owledge of the types of research being conducted, did not seem aware of specific legi slation, or the economic and legal issues
154 associated with Alpha-1, and, although he could articulate about Alpha-1, he clearly had not considered, prior to our intervie w, the impact of Alpha-1 on him and his family. He was not that involved with the community, knew very few Al phas, and had not availed himself of the support or interaction available in the community. He also di d not score high on structural forms of empowerment. Although, this is only one case among 34, it helped me distinguish between levels of awareness, and an overall high score of empowerment. Qualitatively, levels of awareness could not serve as the sole attri bute of personal empowermen t, and the statistical analysis confirmed this. Through this refinement of the list of component s, a clearer picture of the nature of each sub domain, personal and structural forms of empowerment, was obtained. The goal, for each sub domain, is to refine the questions I use to the most central, or esse ntial markers, of that form of empowerment, and then test for th e relation between these components. A factor analysis can test the utility of grouping components into these particular specific sub-domains, but, additional, and useful, information could be gained by weighting each domain equally, and using the load score from each domain to arrive at a Total Empowerment Score. Since, data from this study will be used to compare with QOL scores, it is necessary to obtain these comparable measurements. The Total Empowerment Score should also provide a test of the validity of the factor analysis by determining whether those ch aracterized as structurally empowered, actually score higher than those personally empowered. The observational data were primarily assi gned yes/no values, except for levels of awareness, or understanding of Alpha-1. This variable was assigned values according to a formalized classification scheme developed in the field of e ducation, to measure stages of learning and comprehension (B loom, 1952; Krathwohl, 2002). By quantifying the qualitative
155 components of empowerment, the results of this study will ultimately be measured against the physical parameters used to quantify various stag es of illness and disab ility, as is done with QOL scores. The final analysis of community defined co mponents of empowerme nt, and a re-analysis of hypothesized components, resulted in nine key components of empowerment. This includes 1) type diagnosis, 2) family support, 3) aw areness, 4) organizational membership, 5) participation in research, 6) advocacy, 7) organi zational leadership, 8) membership in a supraorganization, and 9) involvement in policymaking. Given the rarity of Alpha-1, further development of an empowerment survey tool is a difficult task. Like a well developed QOL tool, an empowerment tool would require independent testing of each domain to assure the scales are linear, assessment to assure the domains are independent, and evaluation with a validation cohort to assess the appropriate weig ht to be given to each domain. One way to abbreviate this process is with factor analysis. A factor analysis of the potential components of empowerment of the items was conducted, and each of the potential item domains given a score, or factor loading (see Table 6-5). If the components of empowerment form a unidimensional scale there will be a single overwhelming factor that underlie s all the items and all items will load high on that factor (Bernard, 2003). If the scale is multidimensional, th ere will be a series of factors that underlie the set of variables (H andwerker, 1997). To test how clos ely this data reproduces a perfect scale, Guttmans co-efficient of reproducibility (CR) was applied. According to convention, a CR of .90 or greater will be accepte d as significant (Guttman, 1950). Sample The em powerment study sample consisted of 49 members of the Alpha-1 Antitrypsin Deficiency (Alpha-1) community (see Appendix C). Of the 49 participants, 34 were Alphas,
156 and 15 were caregivers or family members. Although, there was missing data for several participants on age, and number s in close circle and Alpha ne twork, only one individual, QR, (male, 66 years old), was missing data in categor ies necessary for the analysis (organizational membership, research participation, and advocacy ). These missing data points were imputed as the mean from the other individuals w ith the same awareness level as QR. Data for the study were gathered from J une, 2006 to June, 2008 during interviews, and patient focus group sessions, at 5 geographically dispersed regions in the United States. The focus group sessions involved an average of 8 pa rticipants in each locale; the largest group session involved 11 people, the smallest was 4 in dividuals. There were also 10 semi-structured interviews with key Alpha informants. Not include d in the statistical anal ysis are data from 8 physician interviews, 3 nurse interviews, and da ta from observations, and interviews, with 1 physician assistant, and 4 laboratory personnel. These intervie ws focused on the biomedical point of view relative to empowerment in th e Alpha-1 community, and were referenced as a counterpoint, or confirmation, of the patient narratives. A purposive recruitment was conducted to maxi mize the quality of data through choice of articulate, and expert, key informants, and chain referral recruitment was conducted using Alpha-1 gatekeepers (Penrod et al. 2003; Jue ngst, 1998; Johnson, 1990). These gatekeepers all hold employed positions as AlphaNe t coordinators. Each coordinato r is responsible for a large number of diagnosed Alphas in their geographic region, and, through their extensive network of contacts, was able to recruit a su fficiently diverse set of participants to adequately represent the Alpha-1 community population. The relatively sma ll sample size for this study was predicated on the requirements of ethnographi c research, the need for in-depth narrative data, and, the rarity of this condition among the general population.
157 Methods Data for the quantitative analyses were extrac ted f rom the semi-structured interviews, the focus group sessions and over eigh t years participant observati on of the Alpha-1 community. The goals of the semi-structured interviews a nd focus group sessions was twofold to define the components of empowerment in Alpha-1 thr ough input from stakeholders, and to identify areas of relevance not covere d in the literature on empowerm ent. The stakeholders, those people involved in or effected by Alpha-1, incl ude diagnosed individuals, family members, caregivers, physicians, nurses, resear chers, and organizational leaders. The interviews lasted about 2 hours and th e focus group sessions lasted approximately 4 hours. The interviews and focus group sessions were conducted utilizi ng anthropological, and linguistic, interview methodology (Spradley, 1979, Boxer, 2003). Information derived from the interviews was both demographic and investigational in nature. Investigational data from the interviews and focus group sessions were transc ribed and analyzed us ing narrative analysis techniques developed, and utilized, by Jehn a nd Doucet (1996), MacQ ueen et al. (1998), McLellan et al. (2003), Ryan and Bernard ( 2003), Boeije (2002), Abrahamsson, (2002) and Willms (1992). The empowerment questions and di scussions were structur ed to evaluate the patients understanding of thei r condition, their level of invol vement in local support groups, and/or national patient organizatio ns, their participation in resear ch and advocacy activities, the quality of their care giving and family involvement, and the number of Alphas in their close circle and wider social network. Specific items, and their description, can be seen below. Demographic Variables Lim ited demographic data was assembled for the patient participan ts in the study (see Appendix C). This data includes patients gender age, years since diagnosis, family support, the number of Alphas in their close circle, a nd the number representing wider acquaintances.
158 Participants were also classified by their geographic region as a simplified means of representing different sub-populations, and s ub-cultures, within th e closed population of diagnosed Alphas in the United States. Gender was in cluded as baseline data as it is an area of increasing interest in lung rela ted research (DeMeo, 2007; Hersh et al. 2004a, b) and, in future studies, may prove a relevant variable in term s of the patients or caregivers extent of empowerment. Age was provided by only 33 of 49 participants, but was included, along with years since diagnosis, to track vari ation in experiences that may be based on age, and to test for a correlation between level of awareness and years since diagnosis. The number of Alphas a participant knows in their close circle, and among a wider set of acquaintances, was included to provide a quantitative means for tracking increases in involvement with the community, level of exposure to knowledge and support, and for determ ining if level of awareness, memberships, leadership, and involvement in comm unity are significantly correlated. Racial and ethnic characteristic s were not considered in th is study for several reasons the majority of diagnosed Alphas in both the United States and Europe are Caucasian, the known penetrance of Alpha-1 is primarily among Northern Europeans, with a secondary strain among Mediterranean rim countries of Italy, Sp ain, Morocco, Israel, Egypt; and Alpha-1 is rarely diagnosed among Asians and those of Af ro-American descent (de Serres, 2002; 2003; de Serres et al. 2007, 2006a, 2006b, 2003; Silverman et al. 1989). Furthermore, it was not the aim of this study to investigate the validity of the known epidemiology of Alpha-1, or to question the ethics of using a social construct, such as ra ce, as a means of classifying genetic inheritance. However, these remain problematic issues requ iring future study, and if properly highlighted, could lead to reconsideration of how the prev alence of Alpha-1 is classified among ethnic subpopulations, and how specific criteria are chosen to use in targeted detection programs. It is
159 interesting to note, relative to the known penetrance of Alpha-1, that there are only 12 African-American Alphas (0.36%) in the Registry, and 14 Asians (0.43%), but 213 Native Americans (6.48%), a race rarely mentioned in the epidemiologi cal literature on Alpha-1. Due to the snowball recruitment methods used, and the small proportion of African-American, Asian, and Native American Alphas diagnosed in the United States, all those who participated were apparently Caucasian. A consideration of race may help elucidate why certain subpopulations are more likely to pa rticipate in research studies (Coultas, 2007; Pressel, 2003; Corbi-Smith et al. 2003; Condit and Bates, 2005; Cox and McGarry, 2003; Schneider et al. 2003; Schutta and Burnett, 2003). When reasons for non-participation are known, it is possible that concerted efforts can be made to include more racial, or ethnic, variety in study recruitment. Investigational Variables A num ber of variables represen ting content specific areas were examined in this analysis. Variables and their descriptions follow: Awareness Levels of awareness were scaled to repr esent stages in knowledge about Alpha-1. The stages of awareness are based on a Bloom -like taxonomy of education ranking awareness according to specifically defined levels of know ing (Bloom, 1956). Blooms original taxonomy formed a cumulative six-stage hierarchy from simp le to complex, and from concrete to abstract, with mastery of the simpler categories prerequisite to mastery of the more complex ones. The simplest category denotes a stage of knowledge involving recognition or recall of information, leading to higher levels of comprehension, appl ication, and synthesis, to a state of knowledge incorporating evaluative st rategies. This hierarchal approach is consistent with a model of empowerment as a Guttman scale, and the cate gories described by Bloom, and later revised by
160 Marzano and Krathwohl, were adapted for this study. In the revised taxonomy, there are four stages of knowledge (Table 6-1). Although, Blooms taxonomy was based on six st ages of knowledge, only four distinct stages of awareness of Alpha-1 were observe d. Like Marzano and Krathwohl, I therefore found it more useful to combine some of the origin al stages of knowledge delineated by Bloom, and to equate Awareness Level 1 with Factual Knowledge, Level 2 with Comprehension or Conceptual Knowledge, Level 3 with Procedural Knowledge and Level 4 with Synthesis and Evaluation or Metacognitive Knowledge. Using this four-tiered scheme, I classified participants as follows: Awareness level 1 (Factual Knowledge) = lit tle awareness other than knowing the name of the condition, its genetic inheritanc e, and the possibility of illness and death associated with Alpha-1 Awareness level 2 (Comprehension) = awareness of th e variants of Alpha-1 Antitrypsin Deficiency (i.e., ZZ phenotypes are homo zygote and MZ, MS, SZ phenotypes are heterozygote); some understanding of the possible pathogenesis of the lung or liver disease associated with Alpha-1; some understanding of the options for treatment and the necessity for respiratory therapy, supplemental oxyge n and avoidance of certain exposures Awareness level 3 (Procedural Knowledge) = expanded understanding of th e variants of Alpha-1 and their variable risk of diseas e, basic understandin g of the genetic and biomedical terminology used by health profe ssionals about Alpha-1, basic understanding of the different types of research being conducted, awareness of specific legislative, economic and legal restraints associat ed with a genetic condition, und erstanding about disease selfmanagement Awareness level 4 (Synthesis and Evaluation) = mid-level to expert awareness of the science of Alpha-1, facility with and understanding of the genetic and biomedical terminologies used by health professionals, fu ller understanding of th e types of research being conducted, full awareness and participation in the speci fic legislative, economic and legal issues associated with Alpha-1, good to very good understanding of their own condition and how to manage it. Another factor denoting level 4 awarenes s is the ability to articulate about Alpha-1 and its impact on their personal lives. Although, the dynamic of the focus group sessio ns might have obscured the opinion of shyer or quieter individuals, e fforts were made to solicit responses from all participants. This
161 included, at times, politely constraining more assertive members during focus group sessions, or introducing periods of more fo rmal turn-taking in response to specific topics, to ensure all voices were heard. In one focus group session, the host (my Alpha recruiter) warned me that he tended to dominate group conversations, and kne w he was the most assertive person of the group. In his case, we made an agreement that I w ould ask him to be quiet if he spoke to often, or obstructed others from participating. I did, in fact, have to take this action twice during his focus group session, but the dynamic remained fr iendly and constraini ng him did open up the floor for others to participate. Organizational membership Involvem ent in Alpha-1 organizations includ es participation in local support groups, and/or membership in national Alpha-1 orga nizations. (0=No and 1=Yes). Of the 49 study participants, 39 were members of an Alpha-1 organization. However, the data did not distinguish between local and na tional memberships. Participat ion in a local group indicates some knowledge about resources available to Alphas, and prov ides exposure to those more experienced in living with Alpha-1, as well as providing a forum for connecting caregivers with each other. Membership in national organizatio ns, however, may indicate a greater level of commitment to a potentially more demanding form of involvement. Those who join the Alpha1 Association, Better Breather Cl ubs, American Lung Associati on, or the Alpha-1 Foundations advisory committees frequently travel more, attend both patient and scientific meetings, or serve as representatives, or advi sors, on behalf of other patient s. This increases an Alphas exposures to disease vectors duri ng travel, and in large meetings, is disruptive to the work and home lives of the patient, their family and their caregiver, and creates extra challenges in terms of complying with daily treatment regimes. Air travel is particularly challenging for Alphas in
162 an advanced disease stage, and for many Alpha s, travelling requires a companion/caregiver which increases the cost s of participation. Although, membership in an organization is a useful indicator of a growing commitment to networking, and increased involvement with other Alphas, caregivers, and experts in Alpha1, the variable, as defined, did not distinguish between local involvement, and the potentially more demanding economic and physical commitment of membership in a national organization. Future studies will be designed to unpack this variable into its components, and test whether local vs. national involvement correlates with years since diagnosis, or whether national organizational membership is more indicative of or leads to, the structural components of empowerment. Participation in research The Alpha-1 research network was originally c reated to increase the participation of diagnosed Alphas in research and clinical trials, and, is, according to many medical professionals in a variety of disciplines, a primary indication of empowerment (Anonymous 2004; Dickersin and Rennie 2003; Mannheimer and Anderson 2002; Meropol et al. 2003; Morgan 1992; Schneider et al. 2003; Weinfurt et al. 2003; Stoller et al ., 2000; Sveger et al. 1999). This seemed an important variable to track and, as used in this study, includes participation in all forms of res earch, such as clinical trials; bi omedical, bioethical or social research studies; and/or respondi ng to a survey or questionnaire. The variable was included as it was unclear from the qualitative analysis whether individuals always reac h of certain level of awareness before they participate in resear ch, or whether knowing about Alpha-1 does not necessarily precede a commitment to research part icipation. Analysis of the variable research participation would also elucidate whether it is an intervening variable to membership in organizations. Values used for this variable are: 0=No and 1=Yes.
163 Advocacy This com ponent of empowerment is similarly multivariate. For, advocacy can include participating in letter writing campaigns, visiting state or fede ral officials to advocate for Alpha-1, testifying before Congress, or assisting in developing advocacy programs. Future survey questions that separate these activities may result in a more accurate view of the progression of advocacy, and empo werment. However, in this study advocacy only indicates activities in this area, not the quality or amount of activity or the level of commitment such activities implies. Values used for this variable are (0=No and 1=Yes) Organizational leadership Only a few individuals in the study are classi fied as an organizational leader, however, it seem s a key variable to include as it is presumed organizational leaders display, or demonstrate, a higher level of awareness, commitment, and empowerment than those newly diagnosed, or compared to those who were involved as members of local support groups. Membership in support groups, and policy makers, were further permutations intended to capture involvement and commitment in the community. The values for all three of these variables were assigned as 0=No and 1=Yes. Membership in a supra-organization Sim ilar to organizational leaders, only a few participants are members of a supraorganization. These types of organizations repr esent larger constituencies than a single rare disease community, and are created to manage common goals and widespread issues. Examples include organizations such as the National Health Council th at is comprised of over 150 Voluntary Health Organization members, th e American Thoracic Society, with over 10,000 members worldwide, the National Institutes of Health, Public Advisory Panels, or the International Lung Association. During fieldwor k, I had the opportunity to attend a National
164 Health Council meeting where I observed individu als at the highest, most functional end of the scale of empowerment. Membership in one of th ese organizations, therefore, represents for me the upper end of the Guttman scale of empo werment, and highest manifestation of empowerment in the Alpha-1 community. Scoring Rubric Long term observations, and an alysis of interviews and fo cus group data, were used as the basis for scoring participants for each of th e variables described above. Although, some of the variables were straightforward (membership, leadership, policymaking), one variable, Level of Awareness, proved more challenging as a category for classifying the participants experiences. As described above, a widely used educational classification scheme, based on Blooms Taxonomy, was used to help distinguish between forms of awareness along a hierarchal scale. Level 0 was marked when an individual admitted to knowing nothing about Alpha-1, and, in each case, was an individual di agnosed within a few weeks of our meeting. Factual knowledge (level 1) wa s noted when a participant aske d more questions than they answered, demonstrated a lack of understanding of the medical terminology or devices used to describe and treat Alpha-1, had little concept about the Alpha-1 research or patient support networks, and who did not assume a leadership or advocacy role, even among their local support group members. Level 2 assignees de monstrated greater understanding of their condition, and knowledge of the ways and means of dealing with the specif ics of Alpha-1; this was often demonstrated by their detailed descriptions of their diagnosis, and a retrospective understanding of the implications of their condition, and their comments on different treatment methods and research initiatives. Those assigned to Level 3, on the other hand, vocalized their awareness of specific legislative, and the economi c and legal restraints associated with their genetic condition. They seemed able to contextu alize their experience, and to be able to
165 extrapolate more about the outcomes of different research initiatives. Like Level 2 assignees, these individuals were more often answering questions about Alpha-1 than asking them. An additional means of distinguishing between Leve ls 2 and 3 was the level of confidence the individual displayed when e xplaining Alpha-1 to newly di agnosed individuals; Level 3 individuals did not second guess th emselves, or add caveats to their statements, as often as Level 2 individuals did. The majority of individuals in the study were assigned Levels 2 or 3, however, 3 of the participants were assigned Level 4 awareness. Each of the individuals assigned as Level 4 assumed a leadership role in their focus group session, discussed strate gic alliances, described their vision of a cure, talked a bout their plans for the community, or how they had participated in establishing mission statements, or advocacy initiatives, on behalf of the community. These individuals also demonstrated a heightened fam iliarity with the medical terminology associated with their condition, and a more synthesized understanding of the biological processes affecting them, and being studied by researchers in the field. Statistical Analysis Descriptive statistics we re performed in JMP (SAS Institute, Cary, NC), and expressed as mean +/standard deviation and range (Tab les 6-2 and 6-6). Box plots were generated encompassing the middle 50% of data. Continuous variables were characterized, and compared to other continuous variables by simple linear regression. Comparison between subgroups was performed by analysis of varian ce, or chi-square analysis depending on data characteristics. P values <0.05 were considered significant. Additional analyses were performed in R, version 2.7.1 (R Development Core Team, 2008). Phi was calculated between dichotomous i nvestigational variables to assess correlation. Kendalls tau (1938) was calculate d among dichotomous variables and awareness, ordinal in
166 scale. Principal components analysis (Armitage Berry, & Matthews 2002) was used to extract factors from the nine content-sp ecific areas (Table 6-3). Principal components were determined by using both the Kaiser Criterion (Kaiser 1960) and the scree pl ot (Cattell 1966). Results Study participants were from Midwest (n=1 0; 20%), Northwest (n=9; 18%), Southeast (n=19; 38%), Northeast (n=7; 14%), and Southwes t (n=4; 8%). No racial or ethnic data was collected, however this sample can be char acterized as being predominantly white, nonHispanic. Participants were categorized as being aware on a scale from zero to four, with a plurality of participants judged to have a level of awareness (n=19/ 49, 38%). There were almost an equal number of participants having a a nd level of awareness, n=13 (27%) and n=10 (20%), respectively. Two participants were judged to have a level of awareness (4%) and five participants had a level of awareness. Table 6-4 shows th e distribution of the levels of awareness. Correlation analyses between individual domains of the total empowerment score showed strong correlation among; research participation and advocacy (R=0.27, p<.0001); organizational leadership (R2=0.22, P=0.002); a good diagnosis experience (R2=0.49, p<.0001) and higher level of awareness (R2=0.50, p<.0001). Policy makers had more organizational leadership ( =0.45); and memberships in a supra-organization ( =0.64). Lesser degrees of correlation were demonstrated between level of awareness and family care ( =0.01) and the only negative correlation was between type of diagnosis and family care ( =-0.08). The total empowerment scores were highly co rrelated with the individual domains of the score. Significant co rrelations were found with awareness (R2=0.70, P=.0001), (Figure 6-3),
167 policy making (R2=0.36, P<.0001), organizational leadership (R2=0.56, P<.01) (Figure 6-4), advocacy (R2=.0.44, p<.0001), research participation (R2=0.63, P<.0001), and membership in a supra-organization (R2=0.20, P<.001). The total empowerment score also proved to be associated with the numbers of networked individuals (R2=0.70, P=.0001), which, similar to the relation between total score and level of awar eness, explained 70% of the variance. The numbers in an individuals networ k and their level of awareness, therefore, seemed to be the most significant of all the correlations. In an effort to define if empowerment was simply a function of time since diagnosis, further correlative analyses were performed. A larger network of individuals was seen in individuals diagnosed longer (p=0.0 52) (Figure 6-6). Longer years since diagnosis were seen for individuals with research experience, (p=.002) (Figure 6-7), but not for any of the other individual domains of the total empowermen t score. And, although the total empowerment score was associated with years since diagnosis (R2 =0.10, p=0.04) (Figure 6-1), the variance suggests that the composite score may not be as sufficiently robust a tool as individual domains. The factor analysis was performed to see if individual domains tracked together, however, multi-factorial analysis was not performed to va lidate the Guttman scale hypothesis. This final analysis requires a larger cohort, for statistically significant results, a nd the assistance of a statistical consultant to perform these more complex calculations. However, the principal components analysis did confirm the basic groupings hypothesized as a Guttman scale, specifically, two principal components (Eigen values 3.2 and 1.2) accounting for 52% of the variance (Figure 6-8). The first principal compone nt accounted for 30% of the variance; level of awareness, organizational membership, resear ch participation, advocacy, and organizational leadership loaded on this component. This component was labeled individual (personal)
168 empowerment Membership in a supra-organization and participating in policy making loaded mainly on the second component. This component was labeled structural (community) empowerment Discussion The results confirm ed the validity of modeli ng components of empowerment as a Guttman scale, despite the fact the distincti on between personal and structural forms of empowerment fell along a different set of comp onents than hypothesized. In the model of empowerment, organizational leadership fell w ithin structural empowe rment, not personal empowerment, but the statistic al analysis did no t confirm this grouping of components. However, the statistical anal ysis did confirm significant co rrelations between components similar to those hypothesized, and validated th e concept that some forms of empowerment precede others (Figure 6-8). One hypothetical correlation was identified in the analysis as a moderate correlation between membership in a supra-organization and policymaking only those at the most empowered end of the scale participate as a re presentative of their co mmunity on a national and international level. However, other correlati ons demonstrated strong significance between personal forms of empowerment such as awar eness and years since diagnosis, research participation and numbers in Alpha network, and research particip ation and years since diagnosis. More moderate associations were found between research participation and organizational leadership, and research participation and awareness. However, the most significant relations, total score a nd research participation, total score and level of awareness, and participation in research and numbers in Alpha network, explained, respectively, 63%, 70% and 72% of the variance.
169 A future study is planned, that will involve verifying the statistical results through recontact with original study participants, and community feedback regarding the validity of correlations described as significant. This future study will commence in October, 2008, and has also been designed to gather demographic and investigational data on a larger cohort towards more statistically significant results. Su rveying a larger cohort may result in a more precise view of the statistical relationships, pa rticularly the Guttman scale, or may require refiguring the hypothetical model. A further possibili ty is the definition of the variables chosen does not adequately represent the variation within that component, and additional review of the narrative data is needed to tease out the relevant factors. A redefinition, or expansion, of the component advocacy, for example, may yield more accurate data by distinguishing between types of advocacy activities. Another possibility is that the purposive recruitment used in this study skewed the results, and a random sampling would be more representative of community attitudes and attributes. This may be particularly true in relation to the variables organizational leadership and participation in research. The study participants, by participating in my study, were all coded as participating in research, however, for several of them it was the first, and may be the only, time they participate, whereas ot hers regularly participat e in research and in clinical trials. This variable needs further refinement. In addition, the purposive sampling may have resulted in an over-representation of i ndividuals already well on their way to being empowered. As noted above, a random sampling of a larger cohort may resolve this issue, and provide a clearer picture of the full range of experience in the Alpha-1 community. Despite the obvious limitations of statistical anal ysis of such a small cohort, and the need to redefine or expand at least two of the compone nts, it did prove useful to combine qualitative and quantitative methods. The statistical analys is did confirm significan t correlations derived
170 from the qualitative data, and the validity of th e relevance, and utility, of the nine identified components of empowerment. The resulting picture of stages of empowerment, based as it is on many years observation, analysis of ethnographic ma terial, and a statistical analysis, can now be tested empirically and, as appropriate using a re iterative process, be revised according to the perceptions of community member s. This approach does not de nigrate the value of my own observations and preliminary conclusions, rather ensures that the final model of empowerment, and components of empowerment used in survey instruments, is firmly grounded in validated qualitative and quantitative results. An additional advantage of combining qualitati ve and quantitative results is to bridge the divide between social and medical research, and to make the results accessible to the medical experts, and policy makers, involved in the Alpha-1 community. Since, empowering patients includes interaction, communication, and unders tanding between medical professionals and their Alpha-1 patients, it is important to make the results of this study relevant to medical professionals, and presented in forms they can understand (i.e., statis tical results). Strong statistical correlations based on qualitative data, as identified in this study, may help strengthen the role qualitative data plays in underst anding medical issues, and allow combined qualitative/quantitative study outcomes to be inco rporated into medical practice and standards of care.
171 Table 6-1. Structure of knowledge dimensions A. Factual Knowledge 1. The basic elements that must be known 2. Knowledge of terminology and specific facts B. Conceptual Knowledge (Comprehension) 1. Knowledge of conventions, trends, seque nces, categories, crit eria and methodology 2. Knowledge of principles, theories, and structures 3. Translation, interpretation, and extrapolation of information C. Procedural Knowledge (Application) 1. Knowledge of subject-specific skills, techniques and methods 2. Knowledge of criteria for determini ng when to use appropriate procedures 3. Analysis of elements, relations hips, and organizat ional principles D. Metacognitive Knowledge (Synthesis and Evaluation) 1. Strategic knowledge 2. Production of a unique communication, plan or proposed set of operations 3. Derivation of a set of abstract relations 4. Evaluation in terms of internal evidence 5. Judgments in terms of external criteria
172 Table 6-2. Descriptive st atistics of demographic characteristics Min 1st Qu Median Mean 3rdQu MaxMissing StdDev Age 34.0 52.0 58.056.961.381.017.0 8.80 Years Since Diagnosis 1.0 6.0 10.010.714.036.04.0 6.45 Close Circle 1.0 6.0 50.050.470.0150.33.0 51.21 Alpha Network 24.0 100.0 400.0378.8585.0100032.0 291.20 Table 6-3. Frequency distri bution of six of seven c ontent specific scores Frequency (%) Male 44.9% 22/49 Positive Diagnosis 54.5% 18/33 Family Care 93.8% 45/48 Organizational Membership 79.6% 39/49 Participate in Research 38.8% 19/49 Advocacy 30.6% 15/49 Organizational Leadership 24.5% 12/49 Membership Supra-Organization. 6.1% 3/49 Policymaker 6.1% 3/49 Table 6-4. Levels of awarene ss frequency distributions Level of Awareness/Description Frequency (%) 0 Newly diagnosed 4.1% 2/49 1 Factual knowledge 26.5% 13/49 2 Comprehension 38.3% 19/49 3 Procedural knowledge 20.4% 10/49 4 Metacognition, Synthesis 10.2% 5/49
173 Table 6-5. Total empowerment scores for nine domains of empowerment Table 6-6. Descriptive st atistics of total empowerment scores Domain Score Weight Maximum Pts Type Diagnosis No=0, Yes=1 1 4 Family Support No=0, Yes=1 1 4 Awareness Level 0= no awareness 1=factual awareness 2=comprehension 3=procedural awareness 4=synthesis, evaluation 1 4 Organization Membership No=0, Yes=1 1 4 Participation in Research No=0, Yes=1 1 4 Advocacy Activities No=0, Yes=1 1 4 Organizational Leadership No=0, Yes=1 1 4 Membership in a Supraorganization No=0, Yes=1 1 4 Participation in Policy No=0, Yes=1 1 4 Total Empowerment Score 36 Min 1s t Qu Median Mean 3rd Qu Max Missing StdDev Total scores 2 9.5 13.0 14.73 19 36 0 7.91
174 Figure 6-1. Bivariate fit of total empow erment score by years since diagnosis 0 5 10 15 20 25 30 35 40 T o t a l e m p o w e r m e n t s c o r e 0 5 10 15 20 25 30 35 40 Years since diagnosis R2 = 0.0954 P = 0.0367
175 Figure 6-2.Years since diagnos is by levels of awareness 0 5 10 15 20 25 30 35 40 P=0.003 between groups 0 1 2 3 4Level of awareness Y e a r s s i n c e d i a g n o s i s
176 Figure 6-3. Total empowerment score by awareness T o t a l e m p o w e r m e n t s c o r e 0 5 1 1 2 2 3 3 4 P=0.0001 between groups 0 1 2 34 Levels of Awareness
177 Figure 6-4. Total empowerment scor e by organizational leadership T o t a l e m p o w e r m e n t s c o r e 0 5 1 0 1 5 2 0 2 5 3 0 3 5 4 0 P=0.0001 0 1 Organizational leadership
178 Figure 6-5. Total empowerment score by type diagnosis T o t a l e m p o w e r m e n t s c o r e 0 5 10 15 20 25 30 35 40 P=0.002 0 1Type diagnosis
179 Figure 6-6. Alpha network by years since diagnosis 0 10 20 30 40 50 60 70 80 90 1000 1100 A l p h a n e t w o r k 0 5 10 15 20 25 30 35 40 Years since diagnosis R2 = 0.2344 P = 0.0521
180 Figure 6-7. Years since diagnosis by participatio n in research Y e a r s s i n c e d i a g n o s i s 0 5 10 15 20 25 30 35 40 0 1Participate in research
181 Figure 6-8. Scree plot of prin cipal components analysis. 1 = Membership in a supraorganization; 2 = Participating in polic y making; 3= Level of awareness; 4 = Organizational membership; 5 = Resear ch participation; 6 = Advocacy; 7 = Organizational leadership. Re sults of principal component analysis (Eigen values 3.2 and 1.2) accounting for 52% of the vari ance. The first principal component accounted for 30% of the variance.
182 CHAPTER 7 EMPOWERMENT IS SIMPLE, EMPOWERMENT IS COMPLEX Key Elements in Empowerment Rarity and Genetics Studying empowerm ent in a cohesive, rare disease community, as with the Alpha-1 community, may be a particularly effective way to identify, and quantify, components of empowerment. There are several reasons w hy this may be true, and why the Alpha-1 community, in particular, is an appropriate model of empowerment among rare and genetic disease communities. The Alpha-1 community has developed resources, and an identity, that serve all stakeholders interested in Alpha-1: th ere is a visible and formalized infrastructure; there is scientifically validated informati on available to both Alphas and the research community in publications and on websites; there are annual educational and scientific conferences; there is a professionally manage d advocacy program; and many members of the community are aware, articu late, and concerned about em powerment. The access and understanding I had developed over the years ab out Alpha-1, and the community, made this particular rare disease group th e appropriate model for my exploration of empowerment. However, there are additional reasons why it is fitting to choose a rare and genetic disease community to understand, and quantify, empowe rment. A rare disease community, by its definition, is small. In the United States, a rare disease is defined as one with fewer than 200,000 affected individuals ( http://rarediseases.info.nih.gov/). The developm ent of rare disease patient networks, and the extended communiti es that grow up around a rare disease, like the Alpha-1 community, therefore represents small, bounded populations. The criterion for membership is a diagnosed condition, or disease, or a family member with the condition, and all members of these types of communities are conn ected through an explicit common cause. The
183 medical and research networks, that are also part of these extended disease communities, are likewise linked through common interests and goals. Chronic disease communities, in comparison, often do not have such a clearly defined common purpose, as the cause of many chronic conditions, like cardiova scular disease or COPD, is still not known, or has been identified as arising from multiple causes. The terms cardiovascular, or heart, disease, and COPD each cover numerous distinct conditions. COPD, for example, may mean an i ndividual has chronic bronchitis emphysema, refractory asthma, severe bronchiectasis, frequent bouts with pneumonia, or airway disease ( www.copdfoundation.org ). Heart disease, as well, connote s several different types of disease associated w ith the heart, the interaction between the heart and lungs, or the interaction between the circulatory system and the heart. Patients may identify as a COPD patient, but have no common symptoms, medications, or treatments as another patient diagnosed with COPD (Caress et al. 2005). Alpha-1 Antitrypsin Deficiency has been diagnosed among approximately 5,000 individuals in North America, whereas, NIH es timates that 12 million individuals have been diagnosed with COPD (Anto et al. 2003; www.copdfoundation.org ). Of the 5,000 diagnosed Alphas, 3,2895 have enrolled in the Alpha-1 Research Registry. They may not all know each other, but, each one of these diagnosed Alphas has registered to be part of a well established community with others with the same c ondition. Like an exclusive club, the Alpha-1 community has very few members, and, precisely because the condition is rare, a strong sense of uniqueness and even distinction in short, a positive identity. The community identity also comes from shared attitudes, and in the Alpha -1 community there is a tendency to focus on 5 Enrollment figure from 08/01/08 Alpha-1 Research Registry Quarterly Report, Medical University of South Carolina.
184 what can be accomplished as a group, rather th an on a shared disability. Although the Alpha-1 community serves as the model for empowerment, I have also noted a similar sense of positive identity in the Lymphangioleiomyomatosis (LAM) rare lung di sease community, and a growing sense of identity in the newly formed Pulmonary Alveolar Proteinosis (PAP) rare lung disease community. The linguistic aspect of the word rare is also an important factor in the positive identity I observe among rare disease communities. NIH o fficials pushed for a reclassification from orphan to rare disease in the 1990s, as a conscious effort to improve the image of the smaller disease communities (Groft, Pers. Comm. 2008). Rareness has a decidedly more positive connotation than orphan, and may re present a potential linguistic strengthening, and empowering, for rare disease communities that is not be equally availa ble to the millions of people suffering from chronic diseases. The genetic aspect is another factor that made the Alpha-1 community an appropriate model for a study of empowerment. There is no stig ma attached to a lung condition that was not caused by cigarette smoking, or to a liver condition that is not caused by alcohol or drug abuse. Although, Alphas are frequently asked if they smoked, or drank, they can respond without a sense of guilt, that no, what they have is genetic. Cigarette smoking, drinking, and other environmental impacts have been identified as increasing the risk fact or for development of Alpha-1, but even when an Alpha has smoked, they can still credit their genetics as the primary cause of their disease (Sharp et al. 1969; Ma yer et al. 2006; Teckman, 2007). COPD patients, on the other hand, must live with a sense of guilt that they caused their own emphysema by smoking. The burden of guilt should not be dismisse d lightly in an era when patients are told their lifestyle choices pu t them at risk of disease, and me dia informs us that the indoor air
185 environment humans create is a greater risk than outdoor exposures. There is pressure on patients to take responsibility fo r their health, and by extension, when their health fails, they must also be responsible (Hanna, 1998; Gunderman 2000; Loughlin 2003). I conclude that stigma is un-empowering, and must be addressed in disease communities where there is no known genetic cause. In the Alpha-1 community, the patients can bypass a negative sense of responsibility for their illn ess, and focus instead on more positive, and productive, attitudes. Lack of stigma is thus a primary element in the Alpha-1 communitys empowerment. Other rare disease communities ha ve an equal potential for empowerment, but addressing stigma may help to promote empow erment for many other types of patients. A genetic condition has another positive advantage in the 21st century. Biotechnology and genetics, instead of representing what I term t he fear of Frankenstein that earlier genetic research had predicted, have become defining and ubiquitous themes in United States, and global, culture (Stock, 2003). Inst ead of the public fear of scien ce, and scientists, exemplified by the Frankenstein archetype, and other mad scie ntist science-fiction fi lms, we have become eager in our society to say Yes to science and technology (Downey and Dumit, 1997, authors emphasis). Like other social scientists, I perceive the growing a ppeal of biological explanations in our culture (Nelkin, 1996a), and how th e younger generations are embracing the technoeroticism of science and technol ogy, that Hardaway first noted in the 1990s (Hardaway, 1993). The appeal of biological explanations create d the larger social framework for the rapid advances being made in genetic research since the early 1990s. Legisl ators, like many of us, were caught up in the excitement about mapping the genome, and other genetic discoveries, and designated increasing funding for ge netic research in the United St ates. Since that time, society in the United States seems to have shifted from trepidation about the us e of genetics, to the
186 sometimes unreasonable expectation that, in the human genome map, we will find definite answers about the causes of health and diseas e (Collins et al. 2003). Ne wspaper headlines tell us almost daily of new genes that have been discovered relating to some disease, or mental state, or how new technologies are allowing scientists to manipulate genes and cells to cure diseases (see Table 7-1). Despite the huge miscommunication gap between the scientific discoveries, and how they are reported in the media (Nelkin, 1996b), news about genetics is generally positive, and has helped to establish th e value of genetics, and genetic research, in our society. The rapid incorporation of com puters into daily life, that began to occur in the early 1990s, has also had a profound impact on societal attitudes about technology (Goodman, 2005). A generation that has grown up with comput ers is now hooked on mechanical devices, and computer technologies, that prevail over person al interaction, physical activities, and public entertainment. It is a sad day, indeed, when someone is diagnosed with WiFi shoulder from playing a computer game, rather than dealing with a tennis el bow obtained on an actual court, but, that day is here, and it connotes a culture th at valorizes all forms of technology. I see this embrace of technology as impacting the practice of medicine it makes the use of highly technical equipment and tests more acceptable, and the role of genetics, and scientific manipulation of genes, a welcome form of mode rnity. Boasting among scientists is frequently based on who has the newest, most state-of-the -art equipment, or who has developed a new cutting edge biotechnology. Scie ntists know new is best. Having a genetic condition like Alpha-1 is also a signifier of modernity. To be diagnosed implies having access to advanced technologies th at can scan your genes, identify genotypes and phenotypes, and determine whether you have a genetic flaw. And, there are no home
187 remedies for Alpha-1, no history of folk medicine cures, only scientific and genetic solutions. Alpha-1, and empowerment in this community, thus becomes an examination, and example, of how we deal with disease in the modern era a topic of general interest in our society. It does not matter that Alpha-1 is rare, it can, and does, represent how so ciety conceives of disease in the genetic era, and attitudes a bout illness and its management. Socio-Political Context Dr. Moseley, a bioethicist I interview ed fo r this study, listed several key socio-politic influences that have figured into the cont ext for empowerment. He included a general questioning of authority in the 1960s, 1970s, a nd 1980s in political, academic, and cultural arenas (Chernichovsky, 2002; Mechanic, 1996; Te ffs, 1994; Clarke et al. 2003; Schlesinger, 2002); the proliferation of self -help and alternate medicine books in the 1980 and 1990s; the accessibility to information, and other patients, the Internet provided by the mid 1990s; and the rise of bioethics as a dist inct field in medicine. Bioethics, as a distinct field, is almost as new as the discovery of Alpha-1 Antitrypsin Deficiency, and, equally dependent on discoveries in genetics. It arose as a discipline in response to specific issues rela ting to the genome mapping. The firs t formal Ethical, Legal, and Social Issues advisory committ ee was formed as a component of the Human Genome Project at the NIH (Juengst, Pers. Comm. 2005; Collins, 2 004; Collins et al. 2003). For, it had become almost immediately apparent to the scientists involved in the genome project, that genetics research could lead to several very slippery et hical slopes. There now ex isted the possibility of human enhancement, for those who could afford it, cloning, inappropriate use of an individuals, or familys, genes, genetic discrimination, and the sp ecter of eugenics (Caulfield, 1998; Caulfield et al. 2008; C oultas et al. 2007; DeRenzo et al. 2001; Juengst, 1998; Juengst and Fossel, 2000; Dugan et al. 2003; Dressler and Juengst, 2006; Dr iscoll, 1998; McGee and
188 Juengst, 1999; Foster and Sh arp, 2006; Kicklighter and Sharp, 2005; Pressel, 2003; Slaughter, 1994, 1997; Collins et al. 2003; White, 1999). Would you, as an insurance executive, want to provide coverage to someone with a known gene tic flaw? Or, would you, as an employer, want to hire someone with a genetic condition for a cr ucial job in your company? Or, should families test children if there is no known therapy, or cure, for a condition they might, or might not, develop? But, what if the flaw did not definitely lead to disease, and the risk was difficult to define for any one individual, like happened with the BRCA2 gene? Thes e types of questions are the basis of current bioethical consultations, but as genetics advances, a dditional issues will arise, and the field will continue to evolve. Bioethics has subsequently developed as a philosophical check on ot her types of medical activities, such as advanced pl anning, but remains a potent for ce within genetics research, and an appropriate intervention when medical or research goals fail to account for the human dynamic. It is this interventional aspect that relates to empowerment. By focusing on the individuals rights, and the ethical concerns rela ting to families, privacy, and confidentiality in genetic conditions, bioethics has emphasized the social dimensions of the illness experience. Bioethics was my introduction to social rese arch in the Alpha-1 community, and through several bioethical projects I was involved in, I began to see a potential for anthropological research to complement the work of the ethici sts. Together, I believe medical anthropologists and bioethicists can more effectively intervene on behalf of the patient community, and ensure that the lived experience, and et hical implications of a genetic condition, is not subsumed by the domination of the scient ific perspective. An additional factor underlying patient empowerment is the aging of the population, and the growing proliferation of chronic disease patients. With extended life spans, many more
189 individuals are living with ch ronic and disease conditions for 10, 20, even 30 years after diagnosis. The culture of medicine has had to shif t from an emphasis on critical care to chronic care (Hanna, 1998; Warren et al. 1998). In chroni c care, the patient, caregivers, and family members play a greater role in disease ma nagement, and must become more aware of sometimes subtle symptoms, what keys off exacerbations, how to effectively communicate with medical staff, and how to manage illness at hom e. Since awareness, disease management, and communication with medical staff are hallmarks of empowerment, chronic conditions may yet provide the potential for empowerment Maintaining a Traditional Hegemony Socio-political factors, rare and genetic c onditions, and a technophili c culture all play a role in promoting patient em powerment. Respons ibility for knowledge pr oduction, however, is an area where patient empowerment is still ch allenged. I have conducted an ongoing survey of newspaper articles about scienc e and medicine since 1993, to di scern trends in medical, and environmental science, and to identify the social factors that impact the cultures of science and medicine. I grouped selected arti cles by topic (see Table 7-1) and began to see clear patterns that forebode patient empowerment Media stories, for example, had begun, in the 1980s and 1990s, to challenge the objectivity of scientific truths (Condit and Bates, 2005, Geller et al. 2002). This exposed an ongoing tension between those within academia producing knowledge, and those interpreting its products from the out side (Nelkin, 1996b). Medical sociologists and anthropologists also began to cal l attention, in the period beginni ng in the 1970s, to the cultural bias of investigators, and the subjective natu re of medical practice (Mol, 2002; Downey and Dumit 1997; Kaufert and ONeil, 1993; Linde nbaum and Lock, 1993; Rosaldo, 1989; Geertz, 1973; Good, 1994; McGee & Warms 2003; Segal 2001).
190 The social literature also provides insi ght into the dynamics of knowledge production. Historically, knowledge production occurs in re stricted-access locations, what Downey and Dumit call the fortress, or Citadel. In the Citadel, scientific a nd academic knowledge is created behind closed doors, and subsequently disseminated to those outside the Citadel. Despite the centrality of the C itadel in knowledge production, seve ral investigators propose that the cultural significance of a discovery is only actualized outside the Citadel through the diffusion of knowledge to the publ ic arena (Downey and Dumit, 1997). And, that this diffusion into the public arena has been th e traditional place for patients, and the general public, to have any power over knowledge, for knowledge that is ignored gains no cultu ral significance, and remains without cultural power (Geller et al. 2002, Condit an d Bates, 2005). It would seem, that challenges to the do minance of medical e xperts in knowledge production, would not only create opportunities for patients to participate, but shift the exclusive hold medical professiona ls have as the sole creators of knowledge of disease. Like the view expressed in the social literature and me dia, I therefore embraced the notion that patients have become empowered, and that knowledge pr oduction is more evenly shared with medical professionals. This led to my research ques tion about changes in the hegemonic relation between doctors and patients. Unfortunately, in the case of rare or genetic diseases, there is widesp read fear on the part of patients that ignoring the t ruth language of biomedicine a bout their rare condition could literally be life-threatening. As one well-educated, and articulate rare disease patient told me, No matter how many textbooks I read, I will neve r have the necessary medical expertise to make truly informed decisions about my healthcare (Chaite, Pers. Comm. 2005). This individual is not an Alpha, but the President of a different, rare disease organization. When I re-
191 contacted key Alpha-1 informants, they conf irmed this opinion, despite the heightened awareness many of them have about Alpha-1. Through conscious and unconscious reference to this fear, I believe science gained, and has kept, its authority to dire ct truth practices, and constitu te power relations in illness experiences. The fieldwork I conducted in medi cal offices confirmed the ongoing dominance of medical authority in Alpha-1, as did the interviews with individua l patients, and medical staff. It is no surprise that the physicians and nurses I interviewed woul d valorize the centrality of medical knowledge; but I did not an ticipate how many of the Alphas, that I classified at the high end of empowerment, still believe that only their physician, and nurse, produce knowledge about Alpha-1. These patients may feel they cont ribute in meaningful ways to the community, and to the support of other Alphas, but they do not perceive how what they know, and what they experience, contributes to th e body of knowledge about Alpha-1. My conclusion is that the hegemonic relations have not shifted, at least in the Alpha-1 community, and medical experts remain firmly in control. Instead, empowerment for patients, family members, and caregivers is mastery of the language of the medical domain, and, ultimately, participation in a sub-ordinate ro le to their physician in their own disease management. However, empowerment is a process; patients evolve in their understanding, their sense of control, and their degree of self-manag ement of their condition. It is not inconceivable, given the advances in patient empowerment to date, that the hegemonic relations in medical care may shift over time, and patients will share more in knowledge production. And, that this equalizing of relations may come sooner in ra re, genetic disease groups or through the efforts of particularly empowered disease communities, like the Alpha-1 community.
192 I also conclude that, Alpha-1, as a rare, ge netic condition, may not be representative of the illness experience of the majority of patients, who do not have a rare, or genetic, disease, and who potentially may not feel as daunted about understanding their condition. Genetic conditions, as I saw in the laboratories, are co mplex, a difficult topic to understand even for many doctors, and involve technologies, and an understanding, of mo lecular biology that remain obscure for the majority of patients. If, after nine years, hundreds of articles, and numerous conversations with (ver y patient) basic scien tists, I am unable to fully grasp some of the details of what goes wrong in Alpha-1, I ca n only imagine how intimidating achieving this knowledge must be for the average Alpha. C ounteracting the challenge of understanding a genetic condition, however, is the wealth of information that the Alpha-1 community has developed. To understand which factor, difficulty of the topic vs. availability of educational materials, takes precedence is a question that I h ope to answer by further research in a larger cohort of Alphas, and by conducting similar resear ch in other rare disease communities, and in a chronic disease community, like COPD. Future Research This doctoral research has provided a defin ition, and quantification, of empowerment in one rare disease community. However, there ar e other questions I believe are important to answer, and that may benefit the Alpha-1, and ot her disease, communities. The first of these questions is, What is the extent of empower ment among Alpha-1 patients? Using data from the doctoral research, and postdoctoral funding from the Alpha-1 Foundation, I will be designing a survey based on the emic definitions of empowerment, to be administered to enrollees in the Alpha-1 Resear ch Registry, a cohort of 3,289 Al phas. This second phase of my empowerment studies aims to create a validated su rvey instrument that will measure the extent of empowerment in the Alpha-1 community, but, that can also be used to test empowerment in
193 other disease communities. An empowerment survey among Alphas, compared to surveys among other types of patients, may answer a dditional questions such as, Is the Alpha-1 community, and Alphas, more empo wered than other rare, geneti c disease patients? Or, Are Alphas more empowered than chronic lung disease patients, and if so, why? A third phase of the empowerment study is also planned to answer the question that may have the greatest clinical significance for patie nts, and their physicians Does the extent of empowerment correlate to QOL? Through these additional studies, I hope to clarify not only the extent of empowerment in one rare ge netic disease community, but elucidate key components of empowerment that are relevant to all types of patients. My ultimate goal is to draw attention to the possible correlation between empowermen t and an improved quality of life. As noted earlier, in Chapter 2, this correlation with QOL is of great interest to clinicians who treat patients, to patients, and their fam ilies, and to the organizations in the Alpha-1 community. Since, Alpha-1 is not currently curable, except through transpla ntation, (which is only a temporary solution), and there are no therapies that improve the lung and liver destruction once it has begun, QOL is an important goal for Alphas. There is only one type of drug therapy available for Alpha-1, augmentation therapy. Three companies currently produce this drug whic h attempts to provide the missing protection that misformed Alpha-1 cannot provide, and ot her companies are developing new forms of the drug. However, there is no drug therapy for the liver patients, and other than respiratory therapy, exercise, vigilant prev entive measures, and limited nutriti onal advice, there is not much to offer patients in terms of illness management.
194 The focus of the phase three study, therefore, will be to draw parallels between the extent of empowerment, and the possibility this leads to improvements in QOL. A demonstration of a significant correlation would be meaningful to any type of patient. For, despite the disease-specific components of empowerment that I observed in the Alpha-1 community, it would not matter which form the em powerment took; what would matter is that empowerment and QOL are related, and therefor e becoming empowerment is a healthy choice for patients. These additional, planned phases of the empowerment study will also give me the opportunity to refine the methodol ogical approaches, in particular the design of the statistical analysis. Reevaluating the Statistical Approach The statistical analysis, provided in Chapter 6, confirmed many of the qualitative assessment, such as the very strong correlati ons between components of empowerment and the total empowerment score, for example, or be tween years since dia gnosis and awareness. However, some of the statistical results sugge st that the size of th e cohort may have unduly skewed the results, and that th e purposive recruitment, and sa mple used in the study, may not have adequately represented the full range of empowerment in the Alpha-1 community. The statistical analysis did confirm the utility of using a scale to model empowerment, although the exact order of components, and grouping into sub domains, differed slightly from the hypothesized arrangement. However, like Peregrine et al., I believe that, since a Guttman scale is intended to model an evolutionary process, tes ting it in a single time period is not satisfactory (Peregrine et al. 2004). A refigur ed Guttman scale will be tested using multi-factorial analysis in the upcoming empowerment study, and the results of that analysis used to elicit feedback from a larger cohort, to more precisely de fine the hierarchal or der of components of empowerment in Alpha-1.
195 In addition, Likert-like scaled response choice s will be used in survey questions, instead of yes-no responses, to ensure that the data elic ited more accurately portr ays distinct forms of empowerment, and to give participants more op tions for how to characterize their experience. Rensis Likert had developed the scale in 1932, to measure peoples intern al states, such as attitudes, emotions, and orientations (Lik ert, 1932). Realizing these states are multidimensional, and no single question, or dime nsion, could characterize a multi-dimensional, internal state, Likert developed a composite scale. The Likert-like scaling will also provide more precise data for a statis tical analysis (Bernard, 2003). Measuring Disability: Assessing Methodologies An important conclusion of this empowerme nt study is the value of utilizing validated survey instruments, developed within the medical domain, as the templates for the survey topics, and measures, I use to characterize empowerment. Over many years, investigators within the field of medicine have refined the use of QOL surveys to quantify qualitative attitudes among patients, and many of the tec hniques I needed to translate qualitative information into quantitative data have likew ise been used for years in the pulmonary community (Carone et al. 1999; Dowson et al. 1999; Cheng et al. 2000; Bloom, 2001; Gunzareth et al. 2001; Hajiro et al. 1998; Jones et al. 1991, 1992; Ketalaar s et al. 1996; Knebel et al. 2000; Okubadejo et al. 1996; Osma n et al. 1997; Renwick and Connolly, 1996; Seemungal et al. 1998, Tu, 2006; Wijksta and Jones, 1998; Zamberlan, 1992). In addition, researchers in medicine, and be havioral science, have identif ied precise ways to develop measures of disability, and to operationalize difficult to assess, and complex, social constructs (Rubinstein, 1995; Fries et al. 2006; Peregrine et al. 2004). I also recognize the value of the narrative analytic techniques that I employed, and that were developed in the field of anthropol ogy and linguistics (Abr ahamsson, 2002; Bernard,
196 2002; Bernard and Ryan, 1998, 2005, Bernard et al. 1986; Boeije, 2002; Gottschalk, 1997; Jehn and Doucet, 1996; Ervin, 2005; Jehn and Doucet 1996; MacQueen et al. 1998; Rubinsteain, 1994; Ryan, 1999; Ryan and Bernard, 2000, 2003; Ryan and Weisner, 1998; Ryan et al. 2000; Ryan and Martinez 1996; Willms, 1992). Using these techniques allowed me to discern the topics of importance to members of the community among the long, sometimes rambling narratives. One of the techniques I chose, a co ding system, made it easier for me to spot recurrent themes, and to manage my exte nsive interview and focus group session data. However, it was through my readings in re search design (Gottsch alk, 1987; Bernard, 2003), that I learned how to translate the qualitative f actors I had identified into a numeric values, and to operationalize my theories in to research questions, research activities, and, ultimately, answers. My use of any one technique, however, does not indicate my adherence to a fixed approach for hypothesizing about, or analyzi ng, data. Instead, I am a firm proponent of incorporating all relevant techniques, theori es, and templates, and creating my own mixed methods approach. Since, a study of empowerment encompasses both social and medical factors, economics and politics, measurement issues and quantificati on, and, importantly, how we speak about all of these areas, it seemed appropriate to choose techniques and methodologies from each of these fields. I could then test which ones would best compile, then handle, the dataset, and enable me to bridge the qualitative/quantitative divide. My final assessment of methodologies relates to the purpose of this research. I have undertaken an examination of empowerment as an intervention. Although, I am conscious of the need to situate my work within the fiel d of medical anthropology and linguistics, I am primarily concerned with promoting empowerment among disease communities. To achieve
197 this aim, my research results must be understa ndable within the medical and lay domains I hope to affect. It is for this reason, that I used both qualitative and quantitative analysis. My commitment to using both methods has already validated my work among the Alpha-1 research community, and led to additional funding to further my examination of empowerment. However, the qualitative results are what will ma ke sense to the patients, and their families, and, by providing qualitativ e results, my study can be underst ood, and used, by individuals, and Alpha-1 organizations, to promote empowerment. Overarching Themes in Empowerment Historically, when uncontested knowledge fl owed outward from the Citadel, it separated th e producers from accountability fo r their products (Downey and Dumit, 1996). However, societal changes in recent decades began to challenge the inviolability of the Citadel, and, despite what I s ee as the maintenance of the physician-patient hegemony, there are a growing number of individuals in the pub lic arena who insist on accountability for how knowledge is constructed about disease, and whic h types of knowledge will be the most useful for addressing specific disease states (J. Walsh, Pers. Comm. 2006). Recognizing the usefulness of knowledge in patients terms is a pragmatic appr oach that I believe has been instrumental in the empowerment I witnessed in the Alpha-1 co mmunity. But, putting knowledge to good use is not the only manifestation of empowerment. As I researched and wrote the ethnography of the Alpha-1 community, I recognized a variety of forms and enactments of empowerment. At times it seemed, and as the quote below expresses, that empowerment is as varied as the number of people in a disease community. NO (female, 67 years old): For each person, patient empowerment means different things as we are all different people with different backgrounds, strengths, and weaknesses and attitudes towards life in general. I believe that all of these carry over and affect how we deal with our disease. I have always been a very active and positive person.
198 So it was natural, afte r I got over the initial shock of my diagnosis, that I would seek out other Alphas and try to find a way to turn that diagnosis into something positive. In this regard, empowerment is complex it re flects individual personalities, motivations, and choices. However, there are common themes to empowerment, and, from what I observed in the Alpha-1 community, empowerment can be articulat ed as relatively simple, core components that can be extrapolated to other types of patients. Core components of empowerment include, th e value of networking with other patients and caregivers, the importance of increasing awar eness about the disease, accessible resources, and the key role family, and community support, play in disease management. Other attributes that I identified in the Alpha-1 community as empowering, but, that would be applicable to other types of patients, are membership in patie nt support groups and participation in research. Analysis of interviews, and focus group sessions, confirms my view of Alpha-1 community members as active participants in research and thoroughl y versed in the procedures associated with scientific studies. This research participation is empow ering, as it includes increased awareness of, and familiarity with, the process of informed consent, the need to protect their privacy as individuals with a genetic diagnosis, the procedures for taking biological samples through sometimes painful or uncomfortable pro cedures, and the importance of the relationship between bench science (basic research) and thei r own clinical care. Other empowering activities noted in the Alpha-1 community, but applicable to other groups, are becoming an organizational leader, getting involve d in advocacy initiatives, and having a seat at the table in policy making. Underlying all of these specific component s of empowerment is a basic theme of disease-management (Figure 7-1). If, it is empowering to become more aware of ones condition, or to effectively communicate with on es doctor, it is for the purpose of managing
199 ones disease, lessening nega tive impacts on dail y activities and family dynamics, and improving quality of life. Likewise, community wide efforts, such as advocacy or organizational leadership, may gra pple with issues larger than one individuals experience of illness, but are also meant to manage disease. I have noted, in earlier chap ters, the reluctance in the Alpha-1 community to use expressions that define their c ondition in terms of disability and diseas e. So, although my ultimate conclusion is that empowerment represen ts disease management on both the individual and structural levels, it remains important, for th e sake of a positive identity in the community, to express disease management as empowerment, and to link empowerment to improvements in Quality of Life. Lessons from the Alpha-1 Community There are specific com ponents of structural empowerment in the Alpha-1 community that should serve as a model for disease communities of all types. This includes the leadership of visionary, and committed, individuals, and the creation of a strong organizational infrastructure and resources. I observed that effective leadership in the Alpha-1 community included proven business skills, networking at the national and international level, good interpersonal and communication skills, an unde rstanding of scope of the problem, strong personal motivation, and, importantly, a vision of a solution. Having leaders with a vision led to creation of medical advisory boards, the Registry (with its growing cohort of patients willing to participate in research), and resources that w ould serve both the patient and research networks. Effective leadership also helped make the Alpha -1 organizations grow to a size that began to have a positive impact on advocacy efforts. And, w ith a solid infrastructure, all members of the community gained a sense of identity, and purpose.
200 Having a solid and visible infrastructure increas ed the ability of Alpha-1 researchers, and organizations, to attract funding. An effective orga nizational structure also promoted creation of key research resources, like the Registry and Tissue Bank, and led to increased interaction among researchers in diverse fields of Alpha-1 research. But, it was th e recognition that all stakeholders had to work together, that has be en the most powerful force in the empowerment of Alphas. When contacted for a final remark on empowerment, Dr. Brantly was quick to note that networking is the core component of empowerment in the Alpha-1 community. Through involvement of Alphas, family members, caregi vers, organizational sta ff, and Alpha-1 medical experts, the Alpha-1 community has establishe d strategic alliances, a positive reputation among VHAs, and visibility of the needs of th e Alpha-1 community to funding agencies, pharmaceutical companies, and governmental officials. Recommendations My final conclusions are that m embers of the Alpha-1 community are empowered to various degrees, using any recognized standard of empowerment. And, that empowerment is a process, not a static condition (Figure 7-2). Definitions of empowerment derived from this study, therefore, encompass an evolutionary elemen t. For, even during the three years of this study, the level of empowerment of individuals changed, as did the level of empowerment of the Alpha-1 community. I see achieving empowe rment not as a single event, or stage of awareness, but as an ongoing, and progressive, pro cess. Other conclusions relate to the original research questions: Research Question 1: Patient empowerment in the Alpha-1 community does not signify a shift in the hegemonic relation between physicians and patients. Research Question 2: There is a qualitative differen ce between leaders in the community and the majority of Alphas: structural empow erment is embodied by organizational leaders and Alpha gatekeepers; personal empowerme nt is embodied, at the local level, by individuals and their families. However, the vision of finding a cure, held by
201 organizational leaders, is being incorporated, over time, into a lived reality throughout the Alpha-1 community. Research Question 3: The strength and effectiveness of organizational leadership, and community structure, adds to both the struct ural and personal empowe rment of individuals in the community. In addition, access to resour ces improves the chances for patients to more quickly become empowered. Research Question 4: The Alpha-1 community exemplifies empowerment along a unidimensional scale. In addition, I found that the involvem ent of all stakeholders, as part ners in the search for a cure, elevates the patients power, and the comm unitys clout. Based on these conclusions, I recommend that the Alpha-1 or ganizations continue to prov ide their community resource templates to other disease communities, as these resources have proved particularly effective in the strengthening, and empowerment, of the Alph a-1 community. I, also, recommend that the results of this research study be made available, as lay reports, to patient networks within the Alpha-1 community, and in other disease comm unities. The core components of empowerment are relevant to more than just Alpha-1 community members, and may help other communities achieve the levels of empowerment I witnessed in the Alpha-1 comm unity. In addition, the results of this study, when publicized, may serve to increase the positive identity of Alpha-1 community members, and validate the effort s they have already made that promote empowerment. My final recommendation is that other disease communities undertake investigations on the relation between empowerment and QOL, and a ssist in defining what empowerment is, and how to promote it, within thei r communities. Through such studie s, the distinctions between various communitys needs, and forms of em powerment, can be elucidated, and, when necessary, appropriately disease-specific empowerment activities and resources can be developed.
202Table 7-1. Thematic assessment of me dia reports on science and medicine Topic Source Date Title Sub-title or [Topic] Trust in science Gainesville Sun 07/16/08Study: Impending death often kept from patients People crave these conversations, (or).they feel abandoned and forlorn. Gainesville Sun 2005 States make it easier for doctors to say Im sorry [Physician responsibility rather than liability in medical mistakes] Gainesville Sun 03/29/06Sc ientists: NOAA hiding truth on global warming [Tension between politics and science] Miami Herald 2007 Poll: Little faith in government crisis response Americans are wary of likely disease outbreak. Miami Herald 2007 Is talk ing to your doctor a pain? Licensing board is listening New MDs to be tested on communication skills Gainesville Sun 03/29/08Fed. Survey finds mixed feelings on U.S. hospitals The results reflect a growing uneasiness with medical care and comfort. Patients Rights Gainesville Sun 09/07 How does ethnicity affect your health care? Area workshops will focus on teaching women skills to deal with he alth care providers www.salon.com 03/07/00Who owns your DNA? Genetic rese arch that can save lives is often stymied by biotech cos. greedy patient claims Miami Herald 12/02/00FDA raises red flag on Red Cross blood supply The FDA has filed court pa pers alleging that the RC violates regulations on processing blood. Roll Call 06/06/02She knows why its so hard to breathe. Now explain why her lifeline is being squeezed. Gainesville Sun 2006 Medical illiteracy could be death of you Almost 40% of those deemed medically illiterate died during the study. Gainesville Sun 2007 In Britain, patients turn to computers instead of therapists The program is a quick, easy way to get basic therapy Miami Herald 2007 Microsoft launches health management site Electronic medical records Gainesville Sun 2007 Options abound for Web sites on health information The best way to sift through online health information is to use many sites. Gainesville Sun 02/11/08Minneso ta Web site creats online health marketplace The Web site will allow Twin Cities users to look for medical services.
203Table 7-1. Continued Topic Source Date Title Sub-title or [Topic] Genetics Miami Herald 01/13/01Ox gestated in cow lives 2 days Cloning Miami Herald 02/12/01Data of genome project a window to lifes secrets Mental illness, addiction cures among scientists expectations Newsweek 07/09/01Cellular Divide Harves ted from stem embryos, stem cells may cure Alzheimers, Parkinsons and a host of other diseases. Miami Herald 2003 Humans have fewer genes than thought, new research shows People have fewer than 25,000 genes, a new study of the genetic code found. Gainesville Sun 2005 New breast cancer gene found The damaged gene caused only a few cases. Gainesville Sun 2007 Paternity tests sold in stores DNA home testing Gainesville Sun 03/31/08Gene work unravels mysteries of diseases A wide range of diseases may be subject to new treatments Gainesville Sun 04/01/08Your personal gene scan People can find potential medical problems before they show up Bioethics Miami Herald 10/22/99 Study shows fear of genetic tests Privacy concerns focus on job, health insurance discrimination Miami Herald Undated Insurers can use genetic testing British decision draws criticism Miami Herald 03/15/99An idea whose time has come Parents hesitate at DNA sample to identify kids Miami Herald 07/21/99Organ Transplants Li vers should be given to the sickest Miami Herald 2000 Hoarding laws keep organs within state borders I have a Boston liver Newsweek 07/09/01Battle for Bushs Soul The president is trapped between religion and science over stem cells. a nd votes are at stake. Newsweek 07/09/01A question of life or deat h Untangling the knotties t of ethical dilemmas Gainesville Sun 11/11/07Fears of fueling racism accompany DNA data differences Geneticists fear that new findings could undermine principles of equal treatment
204Table 7-1. Continued Topic Source Date Title Sub-title or [Topic] Wall Street Journal 04/14/99The Lung Association, its donations waning, casts about for a cause Christmas Seals grow tired as AsthmAttack flops, spawning internal strife Voluntary Health Organizations Science 04/16/99Foundations and Scie nce Policy [Foundation support of research] Miami Herald 06/14/00From courtroom to crusade Bernard Siegel left a law career to champion scientists doing stem cell research Miami Herald 03/27/00For health-care groups, issues include clinical trials, genetics [Column discussing liability to foundation board members of targeted screening programs] Wall Street Journal 04/25/02Hiring your own scientist to find a cure Families of terminally ill set up research foundations; heres where to get help
205 Figure 7-1. Empowerment is disease management Structural empowerment Information & resources for patients HIPAA protection Effective advocacy Family Support Communication w. Dr/RN Access to resources Disease Management E m p o w e r m e n t Increase in therapies Personal empowerment
206 Figure 7-2. The process of empowerment Removes barriers to research, development of new therapies Organizations provide scientifically validated information Disease SelfMgmt Correct diagnosis leads to appropriate treatment, information Alphas helping Alphas, locally regionally Scientists, Org. leaders Identify & represent Community needs Effective Advocacy At State & Federal level Structural Resources Personal Resources Seat at the Table National network becomes community
207 APPENDIX A SAMPLE QUESTIONS 2006 INTERVIEW S AND FOCUS GROUP SESSIONS Semi-Structured Interviews with Physicians and Researchers The interviews are intended to explore physician a nd researcher attitudes a bout their role in the practice of m edicine. Questions explore social context, psychol ogical motivation, and perceived power between doctors and patien ts in terms of knowledge about a medical condition and control or cure of the condition. Questions also explor e a physician/researchers self-assessment of the following: communication with patients, empathy w ith patients, expertise with the condition, and commitment to medical practice. Input is sought for defining components of patient. It is anticipated that not all questions will be covered in any one interview, but that participants will focus on topics that are more relevant to them. I. Social background a. Why did you choose a scientific career? [ Were parents, older rela tives, siblings, spouse and/or children a hindrance or encouragement for the choice of a scien tific career? Was your religious background or social background a hindrance or advantage for your choice of career? ] b. How do you identify yourself in a social c ontext? By your birthpl ace, ethnic group, religion, gender, country of origin, occupatio n, race, age group, ideological stance ( participants are NOT being asked what their ethnicity, race or co untry of origin, just how they self-identify ) c. Does a scientific career complement, oppos e or is irrelevant to your social identity? d. Do members of your family ( parents, older relatives, spouse, children, siblings ) support your commitment to career? The particular demands of your career as a scientist? II. Identity as a Scientist a. At what age did you decide to be a scien tist, study science or prac tice medicine? Are these the same thing or distinct goals? b. What factors are you aware of that may ha ve motivated your choice (family member, mentor/teacher, religious leader, peer, event (illness or death in family), social altruism?) c. Is it what you expected when you first choose it? d. Does it suit your personality? e. Does it fulfill your intellectual goals, spiritu al or economic goals? (or) is it a meaningful occupation III. Identity as a Specific Type of Scientist a. When did you choose your specific sub-specialty? b. What factors may have motivated your choice? ( Mentor, supervisor, peer, intellectual curiosity, expertise in an area, economic benefit) c. How long have you practiced your specialty? d. Do you consider yourself expert in your area? IV. Relation to Patients a. Did you choose to be a clinician in order to interact with patients? a2. Did you choose to focus on resear ch to interact less with patients?
208 a3. As an MD, PhD, do you have a preference for time at the bench or time with patients? b. What do you enjoy the most about interacti ng with patients? What is the worst about dealing with patients? c. Did medical training include specific written or verbal instruction in how to relate, interact or cope with patients or were you expected to pick it this info rmation in residency? Did your med training include readings in psychology, linguistics, bioethic s or sociology? Did you study epidemiology or public health as a co mponent of med training? If not, do you think these types of courses ar e useful? If yes, did you find these courses useful? d. Do you know many patients? Is your relationship formal, casual, both? e. Of the patients you know, what is the average length of time of your acquaintance, treatment? f. What proportion of your patients is diagnosed with a genetic condition? g. What proportion of your patients is di agnosed with a fatal or chronic condition? h. Do you experience a difference in attitudes associated with your diagnosis, treatment or care for a genetic as opposed to chronic disease patient? i. Has the relation between patients and physicians changed in your lifetim e? In the course of your practice? Shou ld it change? j. Are the patients you know capable of giving informed consent? Do you think they understand what will occur on studies and in trials? Should they understand more? k. Do you think it appropriate for parents to make informed consent decisions for teenagers? l. Are you good at conveying technical inform ation in lay terms? Where do you stand on how much a patient should know about their condition? Their family? V. Relation to Patient Organizations a. Do you attend patient support group mee tings or arrange them at your facility? b. Do you attend or belong to na tional patient organizations? c. Do you serve in an advisory capacity or as an officer of a patient-centered organization? d. do you donate to such organi zations?(Optional question)] e. Does your involvement with a genetic di sease patient community or individual patients differ from your experience of interac tion with chronic disease patients f. Do you believe in the efficacy of patient-d riven organizations to fund research? How could they be more effective? g. How much should such organizations determin e the specific directi on research will take? Provide funding only? VI. Relation to Modes of Patient Empowerment a. How would you define patient empowerment? Is it the same as patient activism? (what else might it include besides advocacy, pharmoeconomic control, disease management, information and awareness, role in research development and funding) b. Are the patients you know empowered? c. Do you participate in a ny patient advocacy activities? d. Do you involve patients in decision making regarding treatment, re search activities or communication about medical issues? e. Do you know patients who you consider we ll informed about their own condition? f. Do you know patients who know more than health care providers about their own medical condition?
209 g. Are you comfortable when patients ask for a specific drug, treatment or diagnostic test? h. Are you comfortable with patients looki ng up information on websites or obtaining information from other patients? Do you think such information is accurate? i. Are you comfortable with how medical and sc ientific information is disseminated in lay language? j. Do you believe that patients are empowered when they know more about their condition and how to treat it? When they lobby for their rights? l. Are patients empowered by a seat at the ta ble in policy making, legislation effecting health care or decision making related to research initiatives? m. Are patients empowered by controlling drug pricing, Medicare carveouts, fast-tracking drug development or the sources of drug distribution? n.. Do patients have a role along with physicia ns and researchers in constructing medical knowledge? Should they have any role? Focus Group Sessions with Alphas I. In addition to social iden tities (where we were born, our religion, ethnic group, race, age group, occupation, ideology/philoso phy) som e people, through diagnosis, become identified with their medical condition. Fo r those with Alpha-1 Antitrypsin Deficiency this means a set of nested, or interlocking identities, like Russian dolls, one within another. Identity becomes medical categories: as an Alpha as a Member of a Rare Genetic Disease Community as a lung (or liver) patient as a family member of an Alpha as a member of a chronic disease community as a disabled person as a patient activist, as a patient advocate How Would You Define Patient Em powerment? Is it the same as patient activism? (what else might it include besides advocacy, pharmo-economi c control, disease management, information and awareness, role in research develo pment and funding). (Free listing exercise) II. Modes of Patient Empowerment ( questions to stimulate discussion) are you and other patients you know empowered? do you participate in any patient advocacy activities? does your physician involve you in decision making regarding treatment, research activities or communication about medical issues? are you, or do you know patients who you cons ider well informed about their own condition? do you or other patients you know better inform ed about aspects of their own medical condition than their doctors? should patients ask for a specific dr ug, treatment or diagnostic test? do you look up information on websites or obtai ning information from other patients? Do you think such information is accurate?
210 are you comfortable with how medical and scie ntific information is disseminated in lay language? do you believe that patients are empowered wh en they know more about their condition and how to treat it? When th ey lobby for their rights? are patients empowered by a seat at the ta ble in policy making, legislation effecting health care or decision making rela ted to research initiatives? are patients empowered by controlling drug pr icing, Medicare carveouts, fast-tracking drug development or the sources of drug distribution? do patients have a role along with physicians and researchers in constructing medical knowledge? Should they have any role? III. Relation to Physician what is your relation to your physician? Do you trust them, rely on them, can you relate, do you understand them, do they treat you with respect, are you afraid of them? does your physician enjoy inte raction with patients? Does he or she do it well? do you think your physicians medical training included specific written or verbal instruction in how to relate, in teract or cope with patients or were you expected to pick it this information in residency? Should me d training include r eadings in psychology, linguistics, bioethics or sociology, epidemiology and public health as a component of med training? do you deal with one physician or several? Is your relationship formal, casual, both? of the doctors you know, what is the aver age length of time of your acquaintance, treatment? has the relation between patients and physicians changed in your lifet ime? In the course of your treatment? Should it change? are you capable of giving informed consen t? Do you think you understand what will occur on studies and in trials? Do you want to understand more? do you think it appropriate for parents to make informed consent decisions for teenagers? are your caregivers good at conveying technical information in lay terms? Where do you stand on how much a patient should know about their condition? Their family? V. Relation to Patient Organizations do you attend patient support group meetings? do you attend or belong to na tional patient organizations? do you serve in an advisory capacity or as an officer of a patient-centered organization? do you donate to such organizations?(Optional question) does your involvement with a genetic disease patient community help you deal with your condition? Does it give you a gr eater sense of identity, co mmunity or optimism? Has it harmed you to be involved? do you believe in the efficacy of patient-driven organizations to fund research? How could they be more effective? how much should such organizations determine the specific direction research will take? Provide funding only?
211 APPENDIX B SAMPLE QUESTIONS 2007 INTERVIEWS Physician and Nurse Interviews Questions about Differences COPD And Alpha-1 Patients 1) I observed that both Alpha-1 patients were m ore knowledgeable about their condition and asked many more questions than the COPD patient who was more passive in her interaction with you during the office visit. Is that typical? 2) If that dynamic is typical, what percentage of Alphas and COPD patient s exhibit those traits? 3) In this particular case, or in general, do you think socioeco nomic or educational level is a factor in engaged vs. passive patients? 4) Do you perceive differences in coping and/ or willingness to self-manage their condition between male and female patients? 5) Do you perceive gender differences in who se eks transplantation? Is the difference in when this treatment option is requested (i.e., early vs. late in course of disease). 6) How common is it for a male caregiver to acc ompany a female Alpha to an office visit? female caregiver to accompany a male Alpha? Is this typical of COPD patients as well? 7) Is the variable the distance to c linic, economics or stage of disease? 8) How often do COPD patients ask about clinical trials, investigational dr ugs or how they might participate in research? Questions About Procedures 8) What is the purpose of the physician assistan t or nurse to first in terview the patient? 9) What do you think are the histor ical roots of this practice? 10) Does it serve your purpose as a physician or is it institutionally mandated? 11) Is the physician or PA in charge of the offi ce visit? Who is responsible for the notes in the medical record? Can and does the physician alter the PA or nurse s notes after the office visit? 12) How often do medical students or researcher s participate or observe in office visits? 13) Do you think it alters the way you talk to or treat a patient? 14) How often do patients refuse to allow obser vers or students into the office visit? Do you think some patients display discomfort but do not say no?
212 Level of Understanding 15) Do you think patients understand their rights in informed consent? Is the motivation to please the physician, demonstrate trust of the physician, or altruism? 16) How much of the science of Alpha-1 or COPD do you think patients need to know? Do you always provide information or only when a pa tient wants to know about the underlying biology? 17) At what stage do you use medical termi nology to describe a patients condition? 18) Does this depend on the patien ts education, time since diagnosis indication of interest or is it a generally structured and stepwise discourse? 19) How often do patients ask you to define a specific medical term, i.e., eosinophils? 20) Do questions about medical terminology or specifics of the biology of their condition generally come early in the course of treatment, later, or is it ongoing? 21) How often do you have to repeat informati on during an office visit and translate medical terms into lay language or analogies, metaphors? 22) Do you think it is the PA or nurses role to explain things in lay te rms? Do you think patients rely on support staff for a lay understanding of Alpha-1 or COPD? 23) Is the nature of managed car e constraining the amount of time you can spend with a patient? Would you want to spend more time with so me patients? Do you have that latitude? Sociolinguistic Questions 24) Are you aware of code-switching during an office visit in the way you address patients vs. the way you address the physician assistant, nurse or medical student? Does the PA or nurse code switch? Does the patient? 25) Do you think patients are more empowered when they learn some of the medical terminology and can discuss and describe their symptoms in medical terms? 26) Do you think relating of sympto ms is a list or a narrative? 27) When you ask questions, based on the interac tion between the PA or nurse and patient, are you interested in elicitin g narratives or are they close ended questions? 28) What do you do when a patient wants to te ll a long story related to their condition? 29) Do you think length of practice enables you, as a physician, to understand the context for remarks from a few verbal or physical cues?
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243 BIOGRAPHICAL SKETCH Symm a Finns background incl udes studies in communications environmental studies, and anthropology. She has an undergraduate degree fr om Adelphi University (communications), a masters degree from the University of Florid a, Rosenstiel School of Marine and Atmospheric Sciences (anthropology of coastal communities), a nd has studied medical anthropology at the University of Florida since 2005. Ms. Finn has worked with environmental, marine, and medical scientists since 1984, and has extensive experience in the scientific and medical domains. Her masters thesis dealt with the human component of Everglades restoration, and she remains involved in research of the intersection between huma n health and the environment. Her current research focuses on the social issues relating to geneti cs, and empowerment of patients. Her doctoral research quantifies empowerment in the Alpha-1 Antitrypsin Defi ciency community, a network of individuals diagnosed with a rare, genetic c ondition, and related stakeholders.