Advancing Rare Disease Care through Patient Advocacy | Emily Reuben OBE

Join us for this special Rare Disease Day episode with Emily Reubin OBE, Co‑founder and CEO of Duchenne UK, as we talk about transforming grief into impact and reshaping rare disease care through patient advocacy.

Emily co-founded Duchenne UK after her son was diagnosed with Duchenne muscular dystrophy (DMD). Emily launched the Duchenne Children’s Trust in 2012, which later merged with Joining Jack to become Duchenne UK. Emily is a leading advocate for patients, representing the community at the FDA, EMA, MHRA, NICE, and SMC. Emily was awarded an OBE in 2023 for her services to people with DMD.

In this episode, we delve into the realities of rare disease — the underappreciated “cluster bomb” impact on families, the emotional toll of diagnosis, and why current systems are not built for complex paediatric conditions. Emily shares her personal story of her son Eli’s diagnosis, the early years of devastation, and how she and co‑founder Alex Johnson built Duchenne UK into international force in disrupting clinical trials, standards of care, and health technology assessment for rare disease.

Emily offers deeply honest reflections, practical insight, and tangible examples for rare disease patients, caregivers, advocates, and all stakeholders involved in rare disease care.

Chapters

• 00:00 – Introductions
• 01:40 – Emily's story
• 13:00 – Starting a rare patient advocacy group
• 16:55 – Challenges in rare disease care
• 20:12 – Role of advocacy in advancing rare disease care
• 27:35 – Getting into the right rooms (and feeling welcome)
• 30:34 – Redefining standards of care
• 35:55 – Overcoming reimbursement challenges (Project Hercules)
• 49:52 – Emily's long‑term dream for rare disease care
• 50:34 – Advice to rare disease advocates and healthcare stakeholders
• 54:01 – Reflections with Caitlin and Clarinda

Resources & abbreviations

• DMD Hub and Clinical Trial Finder
• DMD Care UK
• Project Hercules
• EQ‑5D 
• DMD‑QOL
• Charley's Fund
• Spinal Muscular Atrophy (SMA) UK
• Cystic Fibrosis (CF) Trust
• NMO – neuromyelitis optica 
• The Sumaira Foundation (TSF)
• FDA – US Food and Drug Administration
• EMA – European Medicines Agency
• EUPATI – European Patients Academy for Therapeutic Innovation
• NHS – National Health Service (UK)
• MHRA – Medicines and Healthcare products Regulatory Agency (UK)
• NICE – National Institute for Health and Care Excellence (UK)
• SMC – Scottish Medicines Consortium

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