Losing control at life’s transition points: measuring the impact of this to drive the value of positive change
Sabina Kineen – rare disease patient advocate and caregiver (USA)
Representative of the Fabry disease community (Fabry disease is one of over 50 lysosomal storage disorders). Sabina brings a unique perspective as both a patient and caregiver: her father, who has now passed away, had Fabry, and her children are also medically complex
Oliver Gardiner – chair, International XLH Alliance, XLH UK
Volunteer and Chair XLH UK and International XLH Alliance and Board of Directors for the XLH Network USA. He is also personally affected by XLH alongside several members of his close and extended family
Judith Bubbear – consultant physician, Royal National Orthopaedic Trust
Consultant rheumatologist specialising in metabolic bone disease
Caitlyn Solem – executive director, Patient-Centred Outcomes, Pharmerit
Karen Bailey – senior consultant, Patient Centred Outcomes, OPEN VIE
As treatments and management of rare diseases improve, individuals affected are living longer and fuller lives, but we need to recognise the impact of this on an already challenging and under-supported area: supporting individuals living with rare disease through life’s many key transition points.
There are many life transitions where people can experience loss of control; for example, during pregnancy, menopause and when aging. Whether it is moving from paediatric to adult services, transitioning through education to higher education and into employment, starting a family or retiring, these phases each require planning and support. Thought also needs to be given to gender-specific life phase transitions such as menstruation, pregnancy, and menopause—until now very little attention has been given to supporting individuals and families through these life transitions and this needs to change.
The reality is that families face many challenges navigating these transitions, both emotionally and physically; all while facing pathway and societal constraints. These challenges have a great impact on the value of health interventions. To truly drive positive change for patients, the impact of these barriers must be recognised, understood and addressed.
Understanding whole-life transition point
Sabina: "My situation is rather unique. I was diagnosed as a teenager, but even then experts didn’t have a full grasp of how Fabry disease manifests; especially in men versus women. I was told flat out that as a woman I would have no clinical implications, so in this knowledge I focused my attention on being a caregiver for my father who was also diagnosed with Fabry. As I got older, I experienced many health symptoms which I didn’t associate with Fabry: leg pain, gastrointestinal issues, dizziness, migraines and general daily pain.
"As the years passed and understanding evolved, there began to be a recognition that women do suffer equally to men. This finally gave validity to my experience of living with these symptoms, but by then I had already missed out on that early support. Often, I had been left to feel that these symptoms were in my head.
In my twenties I met my husband, and as the relationship progressed it forced some uncomfortable conversations around the future. I grew up in a large family and family is important to me—I too dreamed of having a large family. But the knowledge of how the disease may affect me and how I could pass on this horrible disease made us question everything. We did go on to have two children, which came with considerable guilt on my part when my daughter went on to inherit Fabry.
"My disease has been a consideration and impact at all key stages of life: marriage, planning a family, raising my children and navigating my career. Sadly, I had to give up a lucrative career position that I had worked hard to attain in order to manage the health needs of myself, my father and my children.
"My daughter is now aged 19 and she herself is going through that transition to adult services, and I am having to navigate this from the other perspective as a parent and not the patient. I am having to learn to let go while ensuring she has all the information and resources she needs in her journey ahead, while acknowledging that her path may look different to mine. As for me now, I am a middle-aged-woman, so there are other things that come along with my disease as I enter that phase of my life."
Medical transition: the shift from paediatric to adult service
Oliver: ''XLH is a phosphate wasting disorder with complex musculoskeletal symptoms which requires a level of care which can be complex and often requires multi-disciplinary team support; this can pose a unique challenge in respect of planning for medical transition.
"I was diagnosed at a young age due to a strong prevalence of the disease in my family. In childhood the support was comprehensive. Everything was provided and we were given lots of support. It was a very passive and nurturing process for me and my parents. By contrast, with the switch to adult services, the tables turned immediately. Now I had to be proactive and drive everything myself. I needed to be the one asking the questions and had to know what questions to ask: Was I seeing the right doctor? Was I accessing the right care? Was I talking with the right patient community?"
The pathway was far from clear, even in the NHS, and this lack of standardised care made it challenging being the pilot of my own care. Thankfully—and this is a shout-out to my mum—she was key in this for me. Early on my mum prepared me to take control of my appointments. She encouraged me to take notes and ask my own questions and this was incredibly empowering.
Judith: ''From a physician’s perspective there are also challenges to positive life transitions in rare disease. There are no specialised commissioned services for many of the rare bones diseases that I specialise in, and this is a significant issue. We have a commissioned service for osteogenesis imperfecta (OI) but only in paediatrics and not after patients reach 18.
"As Oliver says, in childhood you are surrounded by a team: doctors, physiotherapists and more; then you reach adolescence and it’s a hard stop. Funding just isn’t being made available for this, but it’s not just about funding. Often primary care providers just don’t understand the value of referring patients to a specialist with knowledge of managing their condition even when there are no available treatment options.
"It is also important to acknowledge the need to see the whole patient beyond just clinical symptoms. Often rare disease patients are seen as professionally interesting and may be seen as a learning opportunity, but it is vital that we see the patient and their needs as a whole if we are to understand disease impact.''
Sabina: ''I can also personally relate to what Judith says about being a case of interest. Certainly, there were a lot of extra people in attendance when I gave birth! Of course, in rare disease we want to aid and support this important learning, but also physicians need to be aware; we are not lab rats and they should be sensitive and committed to finding that balance.''
Judith: ''Another issue in supporting patients through these key transitions is the lack of evidence. It is common for women of a certain age to come to me and ask, “What will my menopause look like?”, or for men or women to ask, “What will my aging look like and how will it differ?”. Patients are living longer, which is amazing, but this means there is limited evidence available on disease progression, which means I cannot always give an answer to these questions.''
Living now and planning for the future
Oliver: “Being a teenager with a rare disease can be difficult. Its impact on relationships with our peers in the playground, moving to college and starting a career can be profound. It can impact your confidence and ability to see yourself in the future. With inherited diseases this can be further warped by your own family experience where family members can be a mirror to what disease progression might look like for you. This can play on your mind at a critical time of life, impacting your aspiration and career choices. Conversely this can also bring with it a guilt burden around generational improvements in care and prognosis across families.”
Sabina: “Right now in my life I need support in different ways as I look ahead. I am caring for an elderly parent and my child and often my own health needs get pushed aside. I also have uncertainty about what menopause will be like and unanswered questions there. Our transition needs look different at every stage of life.”
Quality of life research—how has it developed and what does the future look like
Caitlyn: “There appears to be a global commitment to increased focus on measuring not just what is easy to measure but to delve deeper and get closer to what actually matters to the patients we aim to serve. Capturing quality of life measures that actually matter and understanding patient perspective, preferences and risk trade-offs is a vital part of this process.
"There is still a long way to go, and we are by no means nearly there, but I am optimistic that there is the appetite and commitment from key stakeholders to evolve this further. We as professionals are realising the importance of accepting that we don’t know what we don’t know and of recognising the patients as experts by experience.''
The key question is: how do we arrive at the right measures that are most important to the patient? The answer can only be found by talking with patients and developing an in-depth knowledge of the patient experience and ensuring that our methodologies are agile enough to be sensitive to change and allow for rich and varied data collection. Nothing in isolation—all with the patient voice at the forefront.
“Great progress is being made with this regard—for example, the FDA are embedding the voice of patients into their work through FDA listening sessions, which is a welcomed and positive step.”
Karen: “Early-on identification of transition points is an important piece of research in its own right and the significance of these points will vary from patient to patient and disease to disease. Methodologies should be developed with patient input from the inception, during design and throughout the entire process to ensure that our approach to research reflects the full patient population, including gender and race differences.
"In order to capture lived experience and its impact, methodologies should allow for open-ended text response questions; this can generate incredibly rich data. A recent study on XLH highlighted transition trends and how these change by age and gender of participants. Women are generally under-represented in research, which can mean some significant issues related to disease burden can be downplayed. This should be considered when designing approaches to data collection.”
Judith: “It is also vital when looking at qualitative data collection that we understand that the bar of what is perceived normal is set differently. The benchmark starts at a very different starting point compared with the non-affected population. Most with rare disease are well accustomed to living with background pain, discomfort and inconvenience, and therefore grossly understate the impact their disease is having on them. This needs to be understood when creating questionnaires and allowing for open-ended questions helps with this.”
Sabina: “I’ve been fortunate that I have had a number of great physicians who took an interest in understanding not only my lab work but also what was/is going on in my life. Unfortunately, not all are so lucky. And for anyone with a rare disease, emergency situations still pose a real challenge—for example, if you need to present at ER where they don’t know your condition. Despite their limited or non-existent knowledge of your condition, they are not typically willing to accept you as your own expert on the disease; this can be a problem at any stage of life.
"I believe we need to make better use of established support groups to learn more of the collective experience of rare disease patients; to make sure that words on industry and healthcare websites like patient-centricity and patient first are really words of action and not just fashionable buzzwords. Support groups can be valuable resources to tap into and better understand the varied needs of any singular disease community.”
Judith: “I cannot overstate the importance of physicians listening to their patients to really grasp and understand disease burden. The textbooks only go so far—they won’t tell me about fatigue, sex, or caring for a dying parent. Simply listening makes me better at looking after my patients.
"Some time ago I was asked to chair a panel on adult transition in OI. Previously I understood the big issue to be the broken bones, but by listening I learned that the bones were a fairly accepted symptom of living with OI. It was the pain and lack of sleep that impacted patients more. By gaining this insight I was able to go away with a new focus on the need for therapeutic support for these non-clinical issues. Only by listening was I fully able to understand this area of disease impact.”
I very much believe that this should be a collaborative approach and not just fall on the shoulders of doctors. This should be a partnership between patients and their families, healthcare providers, researchers and support groups to work together to understand the breadth of patient experience and arrive at sound methodologies.
What is clear is that transition means something different at every stage of life, as Sabina so aptly summarises.
Sabina: “For my father, a big challenge was the difficulty of losing his independence ahead of his peers—aging quicker than expected. For my daughter, she has been challenged with not keeping up with her peers socially and missing out academically, and for me, now, it is about balancing my care responsibilities with my own healthcare needs as I transition into the next phase of my life.”
We need to acknowledge the vast diversity of disease impact and experience, and recognise that even within the same family with the same disease there is no established norm. The differing impacts lead to different choices and decisions, and it is this level that we need to drill down to if we are to assess the true impact of therapeutic and drug interventions.
Well-researched and peer-reviewed evidence, capturing the reality of disease in its entirety, is essential if we are to understand disease impact on quality of life. In collaboration we need to find a robust way to bring to the fore the whole-life experience of living with rare disease so that value can be looked at in the broadest and most complete sense.
To learn more about transition, please read our dedicated RARE Transition edition.
Rare Revolution Editor