The Hidden Impact – Understanding Rare Diseases and Their Emotional Cost
- Brainz Magazine
- Sep 5
- 5 min read
Updated: Oct 9
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.
Imagine waiting years for answers, seeing countless specialists, and being told more than once that you or your child’s symptoms are ‘just in your head.’ For families living with rare diseases, this experience is far from unusual, and the emotional toll is just as profound as the physical one.
When most people hear the term rare disease, they think of unusual medical conditions affecting only a handful of people (and not them). Yet, the truth is more complex. While each rare disease may affect only a small number of individuals, together they touch the lives of an estimated 300 million people worldwide (Eurordis). Behind these numbers lie countless families navigating not only the physical challenges of rare conditions but also the deep psychological strain they bring.
This first article in The Psychological Impact Series explores what defines a rare disease, why it matters for mental health, and why the emotional journey deserves far more recognition than it currently receives.
What is a rare disease?
In the UK and Europe, a condition is classed as rare if it affects fewer than 1 in 2,000 people. More than 7,000 rare diseases have been identified to date, and new ones are still being discovered as genetic science advances.
The challenge is not just in the rarity itself, but in the invisibility that comes with it. Many rare conditions are under-researched, poorly understood, and often misdiagnosed. For families, this means embarking on what is often called the diagnostic odyssey, a long, exhausting process of searching for answers. Genetic Alliance UK states that it takes an average of 4.8 years to receive a rare disease diagnosis. I have worked personally with people who have waited up to 18 years for a diagnosis or have had countless misdiagnoses along the way. During this time, patients and families are left in limbo. Without a clear diagnosis, there is uncertainty about treatment, support, and even how to explain the condition to schools, workplaces, and loved ones.
The diagnostic odyssey: More than just a medical journey
Behind every rare disease diagnosis lies a story of prolonged waiting, persistence, and often deep frustration. Families may see numerous specialists and undergo countless tests, only to receive little clarity, sometimes accompanied by dismissive remarks like “they’ll grow out of it” or “perhaps it’s just anxiety.” This journey can be psychologically devastating, marked by isolation, medical trauma from repeated tests or misdiagnoses, ongoing uncertainty, and the slow grief of realising life may not follow the path once imagined. These experiences of isolation, trauma, uncertainty, and grief often continue to shape the lives of rare disease families long after a diagnosis is made.
The hidden emotional cost
When a rare disease enters a family’s life, its impact extends far beyond the medical. Parents often wrestle with guilt, fear, and self-blame, while also summoning determination to navigate an uncertain path. Children and adults living with rare conditions frequently face exclusion, stigma, and the painful sense of being different, with school bullying, social isolation, and misunderstanding common experiences. Carers and siblings carry their own burdens, including exhaustion, shifting roles, and the quiet weight of life shaped around medical needs. A UK survey found that 70% of rare disease patients and carers experience depression or anxiety directly linked to their condition. Yet these struggles are often invisible to the outside world. Friends may not understand last-minute plan cancellations, schools may misinterpret behaviour challenges, and even healthcare professionals can overlook the emotional context while focusing solely on symptoms.
Why psychological support is missing
Healthcare systems are often designed to treat the body, while mental health remains an afterthought, even though the two are inseparable. For families navigating rare conditions, this gap can feel enormous. Referrals to mental health services are frequently denied because patients don’t fit neatly into standard categories.
In my own case, I was refused therapy support by my GP, because my son’s condition was lifelong, they felt it “wasn’t worth” offering the six sessions usually available. Experiences like this reveal how families are left unsupported, not due to a lack of need, but because the system is not built for lifelong journeys. And when therapy is offered, it is often with professionals unfamiliar with the realities of rare disease, special educational needs, or autism. Misunderstandings can be deeply damaging, and parents are dismissed as “overanxious,” or children labelled “difficult” rather than understood.
What’s truly needed is not just more support, but specialist support psychotherapy that is trauma-informed, neurodiversity-affirming, and family-systems-aware. Only then can patients and carers have a safe space to process grief, cultivate resilience, and rebuild hope.
Towards better support
Closing this gap requires more than simply increasing therapy provision, it requires better-informed therapy. Psychotherapists and counsellors need training in the realities of rare diseases, autism, SEN, and the impact of becoming a carer. Additionally, NHS pathways could be strengthened by offering psychological support as standard at the point of diagnosis, not just in crisis, years later. And within schools, workplaces, and healthcare settings, a more integrated approach would help families feel seen, validated, and supported.
Towards awareness and change
Rare diseases may be individually uncommon, but collectively they are far from rare, and greater awareness is essential not only for medical breakthroughs, but also for the psychological support that families urgently need. Every story matters, when parents, patients, or professionals speak out, the invisible impact becomes visible, and each act of advocacy moves us closer to systems that recognise the whole person, not just their diagnosis. Behind every diagnosis is a story of resilience, grief, and hope, and by acknowledging the hidden emotional cost, we can create care that heals not only the body but also the heart and mind.
Get support and connect
If you are affected by a rare disease, autism, SEN, or are becoming a carer, you can reach out to Kelly Kearley at Mind Over Matter Therapy for personalised support and guidance. You can also explore the lived experiences of others in the book Positively Rare, co-authored by Kelly, which highlights the challenges, resilience, and hope of those navigating rare conditions.
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.
