Women's experiences of living with a rare disease, lymphangioleiomyomatosis

315 Pages·2016·4.75 MB·English

by  Denise Haylen

Women’s experiences of living with a rare disease,
lymphangioleiomyomatosis (LAM):
A life history study

Denise Haylen

A thesis submitted in fulfilment of the requirements for the degree of
Doctor of Philosophy

Sydney Nursing School
The University of Sydney

2016
ABSTRACT
This study explored the experience of women living with lymphangioleiomyomatosis (LAM)
over their life course. LAM is a rare, chronic, potentially life limiting, multisystem condition.
It affects almost exclusively women and is characterised by progressive cystic lung disease.
This study was undertaken to understand the meaning of women’s experiences of living with
LAM over time and how these experiences were affected by the rarity of LAM.
Life history methodology was used to explore illness experience across their life course.
Gadamer’s hermeneutic philosophy and Rosenthal’s (1993) biographic interpretive method of
narrative analysis provided the theoretical framework for the study. Semi-structured life
history interviews were conducted with 19 women living with LAM. Factual data was
extracted from the medical record of each participant. Data analysis involved constructing a
biographical account of the objective facts of each woman’s illness and analysing each life
story for turning points and themes. Following cross case analysis, a collective life history
which focused on the participants’ illness experiences, was constructed.
An understanding of the complexity of their experiences from the onset of symptoms to the
late stage of their illness was uncovered. The participants showed that they lived with LAM
in a context of constant change, from the day to day fluctuations of everyday life to turning
points of significant change related to their illness or social world. Diagnosis, a long hospital
admission, commencing oxygen therapy, experiencing respiratory failure, and receiving a
transplant were turning points when they experienced significant life disruption. The rarity of
LAM created feelings of isolation and uncertainty at diagnosis and a need for self-reliance
and self-advocacy to access appropriate information, care and treatment.
This study illuminates the process of how the participants developed resilience as they adapted
to their illness in a period of transition. Resilience was a dynamic learning process and
outcome by which they gained knowledge and competence in illness self-management, and
found meaning through their experiences of autonomy, agency, social connectedness,
spirituality and personal growth. It accumulated throughout life through everyday experiences
as well as adversity. Resilience was associated with positive self-beliefs and enabled them to
experience wellness and constructively manage illness-related and social changes over the
course of their illness.

i
DEDICATION

This thesis is dedicated with appreciation to the nineteen women living with
LAM who participated in this study

ii
ACKNOWLEDGEMENTS
I wish to acknowledge and sincerely thank the women who participated in this study and so
generously shared their time and life stories with me. It was an honour for me to meet each
one. The insights they have provided have given me a deeper understanding of the
experience of living with LAM. I hope this thesis will inform healthcare professionals and
help improve support for women living with LAM in the future.
Thank you to my supervisors, Associate Professor Murray Fisher and Dr Jennifer Green, for
their wise guidance, patience, support, and encouragement throughout this PhD journey. I
particularly thank them for taking the time to read and provide valuable feedback on
numerous drafts of my chapters during the final stages of my candidature. Thank you
especially to Murray for having inspired my interest in life history during my Bachelor of
Nursing studies and, then on, for having been my mentor through the extended period of
supervising both my Honours and PhD theses.
I acknowledge and thank Professor Allan Glanville, Director of Thoracic Medicine, St
Vincent’s Hospital, Sydney, my hospital supervisor, for his support of this research project
and his assistance in the early stages of recruitment of the participants.
I acknowledge and sincerely thank Dr Jennifer Blundell, Honorary Associate Senior
Lecturer at the University of Sydney, for final editing and formatting of this thesis.
My very special thanks go to my mother Nola Clare and dear friend, Sharon Hodgins, for
their unwavering support, encouragement, and belief in me that I could see this thesis
through to completion. They have been a much valued source of love and connectedness
during the lonely times of writing. In particular, I thank Nola for her sustaining daily
messages and inspiring poetry, and for reading and providing helpful editing suggestions
for many of my chapters. Thank you to friends, Frances Nethery, Andrew Poidevin, and
John and Olga Aitchison for their support and friendship.
My love and deep thanks go to my husband Bernie and children, Tim, Dominic, Andrew,
and Laura, for their love, support and patience over the long course of my thesis. They
witnessed the highs and lows of the journey and I am very grateful to them for ‘sticking by
me’ throughout.

iii
DECLARATION

I certify that the work presented in this thesis has not previously been submitted for a degree
or as part of the requirements for a degree except as fully acknowledged within the text.
I certify that this thesis has been written by me and any assistance that I have received while
undertaking this research and in the preparation of the thesis itself is acknowledged.

I certify that, to the best of my knowledge and belief, this thesis does not contain any material
previously published or written by another person except where due reference is made in the
text.

Denise Haylen
iv
December 2015
TABLE OF CONTENTS

Abstract ....................................................................................................................................... i
Dedication .................................................................................................................................. ii
Acknowledgments.................................................................................................................... iii
Declaration ................................................................................................................................ iv
Table of Contents ....................................................................................................................... v
List of Tables ............................................................................................................................. x
List of Figures ........................................................................................................................... xi
Chapter 1 Introduction
1.1 Introduction .......................................................................................................................... 1
1.2 Background .......................................................................................................................... 1
1.2.1 Epidemiology............................................................................................................. 2
1.2.2 LAM as a disease ....................................................................................................... 2
1.2.2.1 Pathology ........................................................................................................... 2
1.2.2.2 Pathogenesis ....................................................................................................... 3
1.2.2.3 Clinical features of LAM ................................................................................... 3
1.2.2.4 Diagnosis............................................................................................................ 4
1.2.2.5 Medical management of LAM ........................................................................... 4
1.2.3 LAM as a rare disease ............................................................................................... 5
1.2.4 Beginning the research journey ................................................................................. 6
1.3 The Literature Review ......................................................................................................... 7
1.3.1 Living with LAM....................................................................................................... 7
1.3.2 Living with a rare disease ........................................................................................ 15
1.3.2.1 Searching for a diagnosis ................................................................................. 17
1.3.2.2 Receiving the diagnosis ................................................................................... 18
1.3.2.3 Daily struggles ................................................................................................. 19
1.3.2.4 Searching for expert care and treatment in the healthcare system ................... 23
1.3.3 Summary .................................................................................................................. 24
1.4 Aims of the study and research question ........................................................................... 26
1.5 Significance of the research ............................................................................................... 26
1.6 Overview of the thesis ....................................................................................................... 27
1.7 Conclusion ......................................................................................................................... 27

v
Chapter 2 Methodology
2.1 Introduction ........................................................................................................................ 29
2.2 Theoretical framework ....................................................................................................... 29
2.2.1 Gadamer’s hermeneutic philosophy ........................................................................ 30
2.2.2 The biographical interpretive method, Rosenthal (1993) ........................................ 33
2.3 Recruitment of the participants .......................................................................................... 35
2.4 Data collection ................................................................................................................... 36
2.4.1 Medical record data ................................................................................................. 36
2.4.2 The Interviews ......................................................................................................... 36
2.4.3 Data collection and the challenge of a rare disease ................................................. 38
2.5 Data analysis ...................................................................................................................... 39
2.6 Rigor .................................................................................................................................. 44
2.7 Ethical considerations ........................................................................................................ 46
2.8 Introducing the participants ............................................................................................... 47
2.9 Conclusion ......................................................................................................................... 55
Chapter 3 Being Diagnosed
3.1 Introduction ........................................................................................................................ 57
3.2 Becoming aware of a changed body .................................................................................. 59
3.3 Knowing something’s wrong ............................................................................................. 59
3.4 Life disrupted by diagnosis ................................................................................................ 63
3.4.1 Feeling shell shocked ............................................................................................... 65
3.4.2 Uncertainty - the ‘not knowing’ of being diagnosed with a rare disease ................ 66
3.4.3 Layers of loss ........................................................................................................... 68
3.4.4 Feeling “so alone” ................................................................................................... 71
3.4.5 A shifting sense of self ............................................................................................ 72
3.5 Dealing with the diagnosis ................................................................................................. 74
3.5.1 Engaging with the illness ......................................................................................... 74
3.5.2 Striving to be ‘normal’ ............................................................................................ 75
3.5.3 Finding support ........................................................................................................ 76
3.5.4 Deciding to conceal or disclose the diagnosis ......................................................... 81
3.6 Summary ............................................................................................................................ 83
3.7 Conclusion ......................................................................................................................... 85
Chapter 4 Life After Diagnosis Adapting and Learning to Live With LAM
4.1 Introduction ........................................................................................................................ 86
4.2 Learning to live with a changed body ................................................................................ 88
4.3 Finding motivation and direction ....................................................................................... 91
4.4 Learning to manage............................................................................................................ 94
vi
4.5 Living with a rare disease .................................................................................................. 96
4.5.1 Advocacy at work .................................................................................................... 97
4.5.2 Advocacy in the community .................................................................................... 98
4.5.3 Benefiting from advocacy and medical research ................................................... 100
4.6 Accepting and adapting with the passage of time ............................................................ 101
4.7 Managing relationships and responsibilities .................................................................... 102
4.7.1 Disrupted equilibrium ............................................................................................ 102
4.7.2 Altered sexuality .................................................................................................... 104
4.7.3 Risking pregnancy ................................................................................................. 106
4.7.4 Balancing caring for others and caring for self ..................................................... 109
4.7.5 Feeling ‘out of synch’ ............................................................................................ 111
4.7.6 Balancing negative emotions ................................................................................. 113
4.8 Living in a changing world – turning points and experiences of liminality ............... 114
4.8.1 Experiencing spiritual growth and transformation ................................................ 114
4.8.2 Persisting in liminality ........................................................................................... 116
4.8.3 Recurring liminality ............................................................................................... 117
4.9 Building resilience ........................................................................................................... 118
4.9.1 Resilience through adaptation ............................................................................... 119
4.9.2 Resilience and illness progression ......................................................................... 122
4.10 Summary ........................................................................................................................ 124
4.11 Conclusion ..................................................................................................................... 126
Chapter 5 Interacting with Healthcare Professionals
5.1 Introduction ...................................................................................................................... 128
5.2 Being a patient with a rare disease ................................................................................... 131
5.2.1 Feeling isolated and vulnerable ............................................................................. 131
5.2.2. Being vigilant ....................................................................................................... 132
5.2.3 Educating the professionals ................................................................................... 133
5.3 Being resilient during a long hospital stay ....................................................................... 133
5.3.1 Staying positive and persisting .............................................................................. 134
5.3.2 Being supported ..................................................................................................... 135
5.3.3 Taking responsibility ............................................................................................. 136
5.3.3.1 Advocating and collaborating ........................................................................ 137
5.3.4 Turning points and liminality ................................................................................ 138
5.4 Shifting the power balance............................................................................................... 141
5.4.1 Advocating for their health .................................................................................... 142
5.4.2 Being a ‘good’ patient ........................................................................................... 146
5.4.3 Collaborating with LAM experts ........................................................................... 148
vii
5.4.4 Being known as a person ....................................................................................... 149
5.5 Summary .......................................................................................................................... 151
5.6 Conclusion ....................................................................................................................... 155
Chapter 6 Living with Advanced LAM - experiences of oxygen therapy, respiratory
failure and lung transplant
6.1 Introduction ...................................................................................................................... 157
6.2 Oxygen – a therapy of paradox ........................................................................................ 160
6.2.1 Disruption - the negative meaning of oxygen ....................................................... 163
6.2.1.1 Losses and limitations .................................................................................... 163
6.2.1.2 The burden of oxygen therapy ....................................................................... 164
6.2.1.3 Feeling stigmatised ........................................................................................ 167
6.2.2 Enabling - the positive meaning of oxygen ........................................................... 169
6.2.2.1 Staying alive................................................................................................... 169
6.2.2.2 Preserving normality ...................................................................................... 169
6.2.2.3 Feeling liberated............................................................................................. 170
6.2.3 Turning points and shifting perceptions ................................................................ 171
6.3 Living a liminal existence – respiratory failure and waiting for a transplant .................. 174
6.3.1 Being in hospital .................................................................................................... 175
6.3.2 Living on the margin ............................................................................................. 177
6.3.2.1 Living with hardship ...................................................................................... 177
6.3.2.2 Living in a shrinking world............................................................................ 178
6.3.3 Living with struggle and suffering ........................................................................ 179
6.3.3.1 Coping and persisting - Patricia ..................................................................... 179
6.3.3.2 Feeling transformed by compassion - Vidu ................................................... 180
6.3.3.3 Facing death and living with hope - Margaret ............................................... 181
6.4 Receiving a transplant ...................................................................................................... 183
6.5 Feeling transformed ......................................................................................................... 185
6.5.1 A transformation of learning and growth .............................................................. 185
6.5.2 Moving on with life after transplant ...................................................................... 186
6.6 Summary .......................................................................................................................... 187
6.7 Conclusion ....................................................................................................................... 191
Chapter 7 Discussion
7.1 Introduction ...................................................................................................................... 193
7.2 Turning points .................................................................................................................. 198
7.3 Transition ......................................................................................................................... 200
7.4 Adaptation – a process of resilience learning .................................................................. 200
viii
7.4.1 Problem-focused learning ...................................................................................... 201
7.4.1.1 Living with a rare disease – self-advocacy and resilience ............................. 203
7.4.2 Self-learning in liminality ...................................................................................... 207
7.4.3 Resilience as an outcome of adaptation ................................................................. 208
7.5 Avoidance coping ............................................................................................................ 209
7.6 The dynamic process of resilience ................................................................................... 210
7.7 Resilience as a process of everyday life .......................................................................... 212
7.8 Living with struggle and suffering ................................................................................... 212
7.9 Hope and resilience .......................................................................................................... 214
7.10 Meaning and resilience .................................................................................................. 215
7.11 Interpreting the meaning of the experience of living with LAM through life history ... 219
7.12 Summary of key findings ............................................................................................... 220
7.12.1 The meaning of women's experiences of living with LAM over time ................ 220
7.12.2 How the rarity of LAM affected the experiences of women living with LAM ... 223
7.12.3 Issues of concern for women living with LAM ................................................... 224
7.13 Conclusion ..................................................................................................................... 225
Chapter 8 Conclusion
8.1 Introduction ...................................................................................................................... 226
8.2 Implications for practice .................................................................................................. 227
8.2.1 Summary of recommendations for practice ........................................................... 231
8.3 Reflection on the method ................................................................................................. 232
8.4 Limitations and directions for future research ................................................................. 234
8.5 A Personal reflection........................................................................................................ 234
8.6 Concluding remarks ......................................................................................................... 235
References ............................................................................................................................. 236

Appendix 1 Ethics Documents ............................................................................................ 254
1.1 Ethics approval for Honours thesis .................................................................................. 255
1.2 Approval for amendment to Research Protocol and Participant Information and Consent
Form to convert from Honours thesis to PhD thesis ............................................................. 258
1.3 Participant Information and Consent Form, Revocation of Consent Form ..................... 260
1.4 Interview Schedule........................................................................................................... 267
1.5 Approval for amendment to Research Protocol and Letter of Invitation following
complaint by a physician to HREC ........................................................................................ 269
1.6 Approval for amendment to Research Protocol to allow recuitment through the LAM
Australia Research Alliance ................................................................................................... 271
ix