Rare Disease Patients Turn Lived Experience Into a Blueprint for Better Research

In the world of rare disease medicine, numbers often do the talking. In Europe, a condition is classified as rare when it affects no more than one in 2,000 people, a statistical threshold that quietly governs funding decisions, research priorities and drug development pipelines. Yet for the millions of individuals worldwide who live with a rare condition every day, rarity is not an abstraction. It is a childhood shaped by hospital visits, an identity negotiated in playgrounds and workplaces, and a future clouded by questions that medicine has not yet answered. A new Perspective published in PLOS Medicine argues that this gap between statistics and lived reality is precisely where rare disease research most often fails, and that closing it requires something more radical than consultation: genuine partnership between patients and scientists from the very first stages of inquiry.

The article is written by Gemma Whyatt and Jodi Whitehouse, two women who have lived with Congenital Melanocytic Naevus, or CMN, a rare genetic skin condition present at birth. Their credentials are unusual but compelling. Whitehouse founded a national patient organisation nearly three decades ago; Whyatt trained as a clinician. Between them, they have experienced rare disease from the hospital bed, the laboratory corridor and the advocacy meeting room, and their central claim is disarmingly simple: research transforms lives only when it is informed by the people it aims to serve. Their argument arrives at a moment when patient and public involvement is gaining formal traction across biomedical science, but when many institutions still treat patient input as a box-ticking exercise rather than a form of scientific expertise.

CMN itself illustrates why the clinical picture alone is never enough. The condition manifests as pigmented birthmarks that are often dark brown, hairy and raised, varying in size from small lesions to vast areas that can cover up to 80 percent of the body. For some individuals, CMN remains primarily a dermatological concern. For others, it brings neurological complications and an elevated risk of melanoma, the aggressive skin cancer. Severity, visibility and impact vary enormously between patients, which makes standardised clinical measures inherently incomplete. What the datasets rarely capture is the psychosocial burden: the stares from strangers, the questions asked in public, the assumptions made before a child has spoken a single word. For those with visible differences, the authors note, difference is frequently noticed before identity is recognised.

Whitehouse’s own history demonstrates how much has changed, and how slowly. Born with CMN covering approximately 80 percent of her body, she endured more than 30 surgical procedures during childhood and missed several years of schooling. At the time, doctors had little understanding of the condition, and the dominant clinical response was surgical intervention, often driven by uncertainty rather than evidence. It was not until she was 16, after meeting the dermatologist David Atherton at Great Ormond Street Hospital in London, that she was finally given a name for the condition she had lived with her entire life. That moment, she and Whyatt argue, reveals something medicine routinely underestimates: a diagnosis does not merely categorise a condition. It provides language, understanding and a starting point for connection, and for rare disease patients it is often the first step away from isolation.

Whyatt’s experience complements the picture from a different angle. Born with extensive CMN, she also underwent multiple surgical procedures from an early age, and she has described her childhood as feeling medicalised before it was truly her own. As she grew older, she became increasingly aware of her visible difference and the psychological weight that came with it. Crucially, the authors emphasise that this burden is not unique to visible conditions. Whether a rare disease can be seen or not, patients describe strikingly similar experiences of misunderstanding, social isolation, uncertainty and lack of recognition. The rarity itself can be as burdensome as the disease, because patients frequently become the world’s leading experts on their own condition simply because no one around them understands it. These cumulative effects shape confidence, self-image, educational opportunity, employment and mental wellbeing far into adulthood, outcomes that clinical datasets almost never record.

One of the most transformative interventions in rare disease care, the authors suggest, costs almost nothing: introducing patients to each other. When Whitehouse was 16, Atherton asked whether he could share her family’s home telephone number with another family affected by CMN. That single conversation led to a gathering of eight families in a church hall in Liverpool, with Whitehouse’s grandparents serving tea and homemade cake while parents exchanged stories, fears and hard-won knowledge. What began as a modest support meeting eventually became Caring Matters Now, a charity that today supports more than 900 families across the United Kingdom and internationally. For Whyatt, meeting others with CMN was equally life-changing. For the first time, she recalls, she was not a medical anomaly but part of a community, one that allowed children to see adults thriving with the condition they themselves were growing up with.

That community soon turned its attention to public perception. In 2019, Caring Matters Now launched HOW DO YOU C ME NOW?, a global photographic exhibition featuring 30 children and adults living with CMN from 13 countries across five continents. The exhibition drew more than 8,000 visitors in a single week and generated national and international media coverage. The measurable results were striking: participants reported feeling empowered by publicly sharing their stories, expressing increased confidence and acceptance of their appearance, while visitors reported more positive attitudes toward visible differences after viewing the portraits. Published research on the exhibition confirmed these shifts, offering rare quantitative evidence that changing how society sees a condition can be as consequential as changing how medicine treats it. When people encounter difference through a human lens rather than a medical one, the authors argue, understanding grows in ways that clinical encounters alone cannot achieve.

The heart of the Perspective, however, lies in its account of patient-researcher partnership as a technical and scientific enterprise. Nearly three decades ago, Caring Matters Now began working closely with Professor Veronica Kinsler and colleagues at Great Ormond Street Hospital and the Francis Crick Institute. What started as conversations with families evolved into one of the most significant patient-research partnerships in rare dermatology, one that helped identify the genetic causes of CMN, establish evidence-based care pathways, improve patient information and advance therapeutic research. The authors are careful to specify what such partnership actually involves. Patients and families help set research priorities, pushing questions beyond narrow clinical risk toward outcomes that shape everyday life, such as psychosocial impact, scarring and time lost from school. They help decide which outcomes are measured in the first place, as demonstrated by the OCOMEN project, which brought patients, parents and clinicians together to define a core outcome set for CMN, ensuring that what counts as a meaningful result is not determined by clinicians alone. And decades of trust built by patient organisations are often what allow families to contribute biological samples and commit to long-term follow-up at all. Setting priorities, choosing outcomes and enabling recruitment, the authors insist, are forms of scientific labour in their own right.

The model is not unique to CMN. The Perspective points to the James Lind Alliance Priority Setting Partnership for epidermolysis bullosa, in which patients, carers and clinicians jointly ranked the research questions that mattered most to those living with the blistering skin condition. In Duchenne muscular dystrophy, sustained parent-led advocacy shaped regulatory guidance on patient-focused drug development, ensuring that outcomes meaningful to families, not only biomarkers, inform how new treatments are evaluated. Patient registries co-designed with affected communities, such as the UK Cystic Fibrosis Registry and Enroll-HD in Huntington’s disease, show how the same sustained partnership can accelerate research and shape access to care across very different clinical landscapes. The specifics vary, but the underlying practice does not: when patients help steer the science, the science gets better, and so does the care that follows from it.

The landscape for CMN has changed dramatically over the past 30 years, with greater clinical understanding, established specialist services, international patient networks and scientific developments that were unimaginable when Caring Matters Now was founded. Yet the authors’ closing message is aimed well beyond their own condition, at clinicians, researchers, policymakers and healthcare leaders everywhere. Behind every sample, they write, is a person; behind every dataset is a family; behind every research question is someone waiting for clarity about their future. Scientific discovery is powerful, but it becomes extraordinary when guided by lived experience. Researchers study the gene, while patients live the phenotype, and both perspectives are essential. If research is to deliver its greatest impact, patients cannot sit at the edge of the process, because only their involvement ensures that scientific advances improve not just health outcomes, but confidence, identity and quality of life for those living with rare diseases every day.

Subject of Research: Patient-researcher partnership and lived experience in rare disease research, focusing on Congenital Melanocytic Naevus

Article Title: Living with a rare disease: Why lived experience must shape research

Article References: Whyatt, G., & Whitehouse, J. (2026). Living with a rare disease: Why lived experience must shape research. PLOS Medicine, 23(9), e1005253. https://doi.org/10.1371/journal.pmed.1005253

Image Credits: AI Generated

DOI: 10.1371/journal.pmed.1005253

Keywords: rare disease, Congenital Melanocytic Naevus, patient advocacy, patient-researcher partnership, PLOS Medicine, psychosocial impact, melanoma risk, core outcome sets, patient registries, visible difference, Caring Matters Now, Great Ormond Street Hospital