Navigating Health Information and Advocacy in Rare Disease Diagnosis and Treatment

216 Pages·2013·2.26 MB·English

by  Lindsay Hughes

ONE IN A MILLION: NAVIGATING HEALTH INFORMATION AND ADVOCACY
IN RARE DISEASE DIAGNOSIS AND TREATMENT
by

Lindsay Hughes
A Dissertation
Submitted to the
Graduate Faculty
of
George Mason University
in Partial Fulfillment of
The Requirements for the Degree
of
Doctor of Philosophy
Communication

Committee:

Director

Department Chairperson
Program Director
Dean, College of Humanities and Social
Sciences
Date: Spring Semester 2013
George Mason University
Fairfax, VA
One in a Million: Navigating Health Information and Advocacy in Rare Disease
Diagnosis and Treatment
A dissertation submitted in partial fulfillment of the requirements for the degree of
Doctor of Philosophy at George Mason University
by
Lindsay Hughes
Master of Science
Towson University, 2008
Director: Gary L. Kreps, University Professor
Department of Communication
Spring Semester 2013
George Mason University
Fairfax, VA
This work is licensed under a creative commons
attribution-noderivs 3.0 unported license.

ii
DEDICATION
This work is dedicated to all patients, whether your disease is rare, common, or
undiagnosed – may you find answers, peace, and health.
iii
ACKNOWLEDGEMENTS
I gratefully acknowledge the contributions of so many to this work. Foremost: the TTP
patients and their loved ones who shared their time and stories: Amber Hanna, Angela,
Ann Holland, August Rock, Auntie M, Carla Katambi, Christine Rochmond, Christy
LaVergne, Cindy, CJ Robinson, Danielle Greene, Dawn Marshall, Elizabeth East, Ginny,
Heather Money, JAD, Jane Marson, Jennifer Butz, Jennifer Martin, Jessica, Joan Arias,
Judith, Kim, Kymber Smith, Leen Khalil, Lisa Monteria, Lucia Boldis, Marion Sottenz,
Mary, Mary Jo Reynolds, Mrs. Lynn McDonnell, Nicole Bova, Raphael Mazzone,
Rhiannon Stanfield, Samantha Jones, Ron Elmore, Sarah Taylor, Sheena Hughes, Shelby
Strickland, Sondra Childs-Smith, Sue Beaver, Terry Elmore, Theresa Dinsdale, Tod
Reynolds, Tom Corpron, and Wendy Stubblefield.

All of the accolades in the world go to my supportive partner Raph, who has provided me
with ideas, input, assistance, and kept me fed and watered – and also made sure I saw the
outside world every once in a while. This work would not have been possible without
Carl, who has kept me company during all of my late night study sessions since my
junior year of college, sacrificing sleep to make sure I didn’t need anything, and to his
associate, Gerty, who has provided her support since I began my Master’s program. My
family, especially my parents Steve and Ginny, who not only were some of the best
research assistants I could ask for, but who taught me to assume that I could achieve
anything with hard work and dedication, and to forgive myself if I couldn’t; my
grandmothers, Faye and Dee, who took me to their offices, held me, and pushed me
around on dishwashers – because of your success, grace, and strength, successful careers
for women seemed effortless – what examples you have been! My grandfathers, Hank,
who taught me that no matter where you come from, you can create your own path, and
Anthony for his support during the early years. Thanks, too, to Neal Wilson, Nyaka
Mwanza, Bradlee Sutherland, and the beautiful people at Data Tech who resurrected my
files from a dead and mutilated hard drive.

Finally, I thank my academic and professional mentors who have provided guidance
throughout this journey – Dr. Martin Alilio for his patient and quiet mentorship, and for
the honor of being his student;.Dr. Gary Kreps, an exemplary health communication
scholar and my advisor who has given me valuable direction and converted me to a
follower of Weick; Dr. Peter Pober, who taught the single most interesting course I have
ever taken, and from whom I learned to tilt my head and see things from multiple
rhetorical perspectives; and Dr. Xiaomei Cai, who guided me through the painful and
painstaking process of making sense of what people have already said.
iv
TABLE OF CONTENTS
Page
List of Tables ................................................................................................................... vii
List of Figures ................................................................................................................. viii
List of Abbreviations ....................................................................................................... ix
Abstract ............................................................................................................................. xi
Chapter One: Statement of the Problem ...................................................................... 13
Introduction ............................................................................................................................. 13
Statement of the Problem ........................................................................................................ 16
Purpose of the Study................................................................................................................ 16
Key Terms and Necessary Background Information ........................................................... 17
Definition of key terms. ........................................................................................................ 17
Clinical information about TTP and communication implications. ...................................... 18
Chapter Two: Review of the Literature........................................................................ 28
Importance of Health Information ........................................................................................ 28
Drug Therapy Development ................................................................................................... 37
What is a Rare Disease? .......................................................................................................... 43
Alternative Health Communication Strategies ..................................................................... 47
Theoretical Underpinnings ..................................................................................................... 52
Weick’s model of organizing. ............................................................................................. 52
Uncertainty Management Theory. ..................................................................................... 63
Chapter Three: Statement of the Method .................................................................... 68
Content Analysis ...................................................................................................................... 73
Case Study ................................................................................................................................ 81
Recruitment. ........................................................................................................................ 83
Data collection.. ................................................................................................................... 85
Limitations ............................................................................................................................... 88
Chapter Four: Analysis, Results, and Discussion of Exemplar online Community for
people with rare diseases ................................................................................................ 90
Summary .................................................................................................................................. 90
Analysis ..................................................................................................................................... 90
Content Analysis Results......................................................................................................... 92
Discussion of Content Analysis ............................................................................................... 99
Chapter Five: Contextualizing the Exemplar Community ....................................... 104
The Global Genes Project ..................................................................................................... 105
v
TTP Resources ....................................................................................................................... 111
Governmental Initiatives ...................................................................................................... 113
Chapter Six: Analysis, Results, and Discussion of Case Study ................................. 118
Analysis ................................................................................................................................... 118
Results ..................................................................................................................................... 119
Obstacles in the diagnosis and treatment process. .............................................................. 120
Strategies. ............................................................................................................................ 131
Information gaps identified by patients. .............................................................................. 141
The current utility of online communities. .......................................................................... 152
Chapter Seven: Theory, Context, and Discussion of Practical Ways Forward ...... 163
Summary ................................................................................................................................ 163
Using online communities to reduce equivocality ............................................................... 166
Toward a Practical Solution ................................................................................................. 170
Combining strengths. .......................................................................................................... 174
Next Steps ............................................................................................................................... 176
Conclusions and Limitations ................................................................................................ 179
Future Research ..................................................................................................................... 179
APPENDIX 1: Coder Confidentiality Form............................................................... 181
APPENDIX 2: Coder Characteristics Questionnaire ................................................ 183
APPENDIX 3: Content Analysis Coding Instrument................................................ 188
APPENDIX 4: TTP Recruitment Survey Instrument ............................................... 196
APPENDIX 5: In-Depth Interview Schedule ............................................................. 200
APPENDIX 6: Focus Group Guide ............................................................................. 203
References ...................................................................................................................... 206

vi
LIST OF TABLES
Table Page
Table 1Basic demographics of coders .............................................................................. 71
Table 2 Inter-coder reliability subsample ......................................................................... 79
Table 3 Complex Themes ................................................................................................. 97
Table 4 Uncertain Themes ................................................................................................ 97
Table 5 Urgent Themes ..................................................................................................... 98
Table 6 Reported actions, behaviors, and strategies to manage uncertainty ................. 141
Table 7 Patient-reported treatments ................................................................................ 149
Table 8 Splenectomy rhetoric ......................................................................................... 151

vii
LIST OF FIGURES
Figure Page
Figure 1 New drugs developed per $1 billion R&D ......................................................... 39
Figure 2 Overview of Weick's model of organizing ......................................................... 54
Figure 3 Enactment phase of Weick's model of organizing ............................................. 56
Figure 4 Selection phase of Weick's model of organizing ................................................ 58
Figure 5 Double Interact as described by Weick .............................................................. 60
Figure 6 Feedback loops linking retention to enactment and selection ............................ 62
Figure 7 Steps of confronting uncertainty according to UMT .......................................... 65
Figure 8 Language of original post ................................................................................... 92
Figure 9 Purpose of original post ...................................................................................... 93
Figure 10 Identity of original poster ................................................................................. 94
Figure 11 Number of responses to original post .............................................................. 95
Figure 12 Frequence of number of responses by Poster ID ............................................. 96
Figure 13 Social media graphic from the Global Genes Project .................................... 106
Figure 14 Four (of 99) pages of the Rare List ............................................................... 109
Figure 15 Subsection of Rare List .................................................................................. 110
Figure 16 Selection from OOPD FAQ ........................................................................... 116
Figure 17 Selection from ORDR Rare Disease List ....................................................... 116
Figure 18 Familiarity with TTP prior to diagnosis ........................................................ 123
Figure 19 Semantic overview of “Celebrity Hematologist” .......................................... 128
Figure 20 Patients’ reported confidence in their doctor .................................................. 129
Figure 21 Information seeking behaviors in the context of UMT ................................. 139
Figure 22 Distribution of treatments across sample ...................................................... 150
Figure 23 TTP case study findings compared with NORD/PEW findings .................... 165
Figure 24 TTP case study findings compared with NORD/PEW findings ................... 174

viii
LIST OF ABBREVIATIONS

A disintegrin and metalloproteinase with a
thrombospondin type 1 motif, member 13 ........................................................ ADAMST13
Acquired Immune Deficiency Syndrome .................................................................... AIDS
Complete Blood Count ..................................................................................................CBC
Comprehensive Health Enhancement Support Systems ........................................... CHESS
Electronic Health Communication ............................................................................ eHealth
Food and Drug Administration ......................................................................................FDA
General Practitioner ......................................................................................................... GP
Government Accountability Office............................................................................... GAO
Health Significant Other ................................................................................................HSO
Hemolytic-uremic syndrome .........................................................................................HUS
Human Immunodeficiency Virus ................................................................................... HIV
Immunoglobulin A .......................................................................................................... IgA
Immunoglobulin G .......................................................................................................... IgG
Low-Literacy User Cancer Information Interface ....................................................... LUCI
Microliter (one-millionth of one liter) ........................................................................... mcL
Mobile Health Communication................................................................................ mHealth
National Cancer Institute ................................................................................................ NCI
National Heart, Lung, and Blood Institute ................................................................ NHLBI
National Organization for Rare Disorders ................................................................. NORD
New Drug Application .................................................................................................. NDA
New Molecular Entity ................................................................................................... NME
non-governmental organization .................................................................................... NGO
Office of Information Technology .................................................................................. OIT
Office of Orphan Products Development ................................................................... OOPD
Office of Rare Disease Research ............................................................................... ORDR
Orphan Drug Act of 1983 ............................................................................................. ODA
protein molecular weight ................................................................................................ kDa
Rare Diseases Europe ........................................................................................EURORDIS
Research and Development........................................................................................... R&D
Statistical Package for the Social Sciences ................................................................... SPSS
Thrombotic Thrombocytopenic Purpora........................................................................ TTP
ultralarge von Willebrand factor .............................................................................. ULvWF
Uncertainty Management Theory ................................................................................. UMT
Uncertainty Reduction Theory .......................................................................................URT
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