‘Living Rare: Reflections Across a Lifetime’ for Rare Disease day 26
Join CamRARE on 27 February 2026 to mark International Rare Disease Day with ‘Living Rare: Reflections Across a Lifetime’
This event offers a unique opportunity to understand rare conditions not only as medical issues, but as lifelong human experiences.
Listen to our community explore key stages along the rare life journey, concluding with an expert panel discussion reflecting on how systems and services can better respond to their needs.
Join to meet and mingle with the rare disease community, medical professionals, researchers and industry professionals working in the rare disease space.
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Date: 27 February 2026
Time: 16:00 – 18:00
Location: The Discovery Centre (DISC), Cambridge Biomedical Campus, 1 Francis Crick Avenue, Cambridge CB2 0AA
Meet the Speakers
Through first-hand stories from individuals and families in our rare community, CamRARE will shine a light on the challenges, milestones, and defining moments that shape life from early childhood through adulthood.
Hannah Humphrey
Early symptoms & first concerns
What happens when your child’s symptoms don’t fit any box?
Hannah will share her family’s powerful journey through early warning signs, missed diagnoses, uncertainty, and the emotional toll of searching for answers – and what truly helps families along the way.
Hannah is a mum a to a 13-year-old with 22q11 Deletion Syndrome and TANGO2, a passionate advocate, and lived experience expert who believes families must be partners in care and research, not afterthoughts.
Sue & Charlotte Berry
Childhood, identity & family life
What does it mean to grow up living rare – and how does that shape identity, independence, and family life over time?
Sue Berry and her daughter Charlotte, a young adult living with Coffin-Siris Syndrome, will reflect on childhood experiences, evolving identity, and the realities of family life when a rare condition is part of the story from the very beginning. Their shared perspective will bring to life how needs, roles, and expectations change as children become adults, and what families need to thrive at every stage.
Jayne Hughes
Loss & support networks
Jayne will speak about a part of the rare disease journey that is often hardest to talk about: loss and bereavement. While families may live with anticipatory grief for years, nothing truly prepares you for the pain of losing a child. She’ll reflect on the vital role of community, compassion and specialist support, to ensure families so don’t face these moments alone.
From a place of love and loss, Jayne founded Amy and Friends, inspired by her daughter Amy and her family’s experience of Cockayne Syndrome, to support families across the UK living with similar conditions.
Ellie Cornwell
Independence & daily life
Ellie will share her journey from childhood into adulthood, and how she has adapted to increasing independence while living with Kabuki syndrome.
She will explore how societal expectations, limited adjustments, and a lack of accessibility can create additional barriers – often making everyday activities harder than they need to be.
Her reflections offer a powerful reminder that everyone’s journey is different, and that progress can take time, support, and determination.
As Ellie says, “Just because something is hard, it doesn’t mean you shouldn’t try.”
Loretta MacInnes
Adulthood & employment
Loretta will share her lived experience of Fabry disease, reflecting on how a diagnosis impacts the sense of identity, mental health, and wellbeing.
She will explore the differences between being diagnosed as a child versus as an adult, and the effect a rare condition can have on work, relationships, and family life. Loretta will also speak about her experience of parenting with a genetic rare condition, including the impact on her children and considerations around family planning.
An important perspective on ‘living rare’ across generations.
Panel Discussion
How can systems improve?
Reflections from leaders across healthcare, industry, research and support organisations in a multidisciplinary panel designed to explore how systems can better respond to the needs of the rare community
Chair: Jill Walker, Beacon Scientific Consulting
Panellists:
- Sue Berry, CamRARE’s Unique Feet
- Dr Gemma Chandratillake, Cambridge University Hospitals NHS Foundation Trust
- Gavin Hepherd-Hall, Rare4Schools
- Estelle Michael, UCB Pharma
- Prof Stephen Morris, University of Cambridge