The Hidden Emotional Impact of Running a Rare Disease Patient Organisation
- 16 hours ago
- 5 min read
Kelly is a Psychotherapist, Charity Manager at PTENUKI, and co-author of Positively Rare. She shapes the conversation on the psychological impact of rare diseases, autism, SEN, and caregiving, bridging lived experience with clinical expertise to raise awareness and inspire change.
Most people think of rare disease patient organisations as established sources of information, support, and advocacy. They often appear professional, well organised, and reassuring, places families turn to after receiving a diagnosis or when they need someone who understands.
What many people do not realise is that these organisations are rarely created by governments or the NHS. Instead, they are usually founded by people whose own lives have been profoundly changed by the condition itself: parents, patients, partners, siblings, and carers.
They are people who were first looking for support but instead found themselves creating it.
This article is part of my IMPACT series, exploring the psychological impact of rare disease. While previous pieces have focused on patients, carers, and families, this one turns to a group whose emotional experiences are rarely acknowledged: the people who run rare disease patient organisations.
When my son was diagnosed with PTEN Hamartoma Tumour Syndrome (PHTS), I felt compelled to do something. Like many parents, I was trying to make sense of a world I knew very little about. I was not thinking about starting an organisation, I simply wanted families like ours to have somewhere to turn.
Helping to establish the PTEN UK & Ireland Patient Group felt like a natural response to that need. At the time, I never imagined it would become such a central part of my life. What began as an emotional response has grown into something far bigger than I expected. Seeing families connect, watching communities form, and knowing that people no longer have to face this journey alone have been genuinely life-changing.
Building something you never planned to create
Over the years, I have met many others who lead rare disease patient organisations, and although the conditions differ, the experience is strikingly similar. Behind every organisation is someone trying to improve life for others while also living the reality of the condition themselves.
Together, we support families through uncertainty and grief. We create communities where none previously existed. We organise patient days so people can meet others who understand. We build registries to support research, advocate for scientific progress, raise awareness, apply for funding, maintain relationships with clinicians, and respond to worried messages, often late into the evening.
It is meaningful work. It is important work. But it is also emotionally demanding because rare disease patient organisations are not built from professional distance. They are built from lived experience, love, hope, and determination. That closeness is what makes them so powerful.
The emotional reality of lived experience leadership
That closeness is also what makes them emotionally complex. When you are part of the community you are supporting, there is no separation between role and reality. Every message carries meaning. Every family you speak to becomes part of your emotional landscape. Every moment of hope is shared, and every setback is felt personally.
Over time, this creates an emotional weight that is difficult to describe from the outside. Patient organisation leaders are often seen as capable, organised, and resilient, and they are. But what is less visible is the accumulation of emotional labour: holding space for others, absorbing uncertainty, and being present through moments of fear and vulnerability.
There is rarely space to step away. These organisations are often run alongside full-time work, caring responsibilities, and the ongoing reality of living with or alongside the condition itself. Boundaries blur, and the work extends into every part of life.
Yet, despite this, these organisations are expected to fill some of the most critical gaps in the healthcare system by providing information, offering emotional support and advocacy, and contributing to research progress.
The weight of carrying a community
That expectation is rarely matched by meaningful structural support. Recognition is often expressed in words, but sustainable funding, formal integration into healthcare pathways, and emotional support for those leading this work remain limited.
For me, this is not abstract. When I look at PTEN UK & Ireland, I see what has been built from need, determination, and care. I see families connecting who might otherwise never have found each other. I see clinicians engaging more meaningfully with our condition. I see the difference it makes when someone finally feels less alone. But I also see and live the emotional labour beneath it: the late-night emails, the difficult conversations, and the responsibility of holding space for others while navigating my own lived experience.
I did not set out to take on this role. Like many others, I began as a parent trying to understand a diagnosis that changed everything. What grew from that moment was not planned, but it became something I value deeply.
Returning to the personal
Stepping into this work has not felt like something I was pulled into, it has given real purpose to my journey. PTEN UK & Ireland is not separate from my life, it is part of it. It has connected me to families I would otherwise never have met, created meaning during a time of uncertainty, and shown me the power of community in the rare disease space. I do love it. But that does not remove the emotional weight that comes with it. It simply exists alongside it.
These organisations are built from lived experience, care, and a determination to make things better for those who come after us. That is what makes them so powerful and also what makes them so demanding at times.
Perhaps the real question is not whether this work matters, as we already know it does. It is whether we are willing to properly recognise and support the people behind it so that what they are carrying does not quietly become unsustainable.
Because for me, this is not just organisational work. It is personal. It is lived. It is purposeful. It is sustained every day by people who never set out to carry quite so much but continue anyway because it matters.
Read more from Kelly Kearley
Kelly Kearley, Psychotherapist and Rare Disease Advocate
Kelly is a psychotherapist, author, and charity leader shaping the global conversation on the psychological impact of living with a rare disease, autism, SEN, and caregiving. Co-author of Positively Rare and Charity Manager of PTENUKI, she bridges lived experience with clinical expertise to bring overlooked mental health challenges to light. Her work explores resilience, advocacy, and the hidden toll of caregiving in extraordinary circumstances. Kelly's mission reaches beyond the rare disease community, she seeks to help the wider world understand the profound emotional impact these journeys carry. By fostering awareness and empathy, she inspires change across healthcare, education, and society.
