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The common experience of living with rare disease

Rare diseases, actually, are not rare at all. With an estimated more than 7,000 rare diseases affecting approximately 3.5 million people in the UK, they are collectively common, and so are relevant to every medical career. 

Each year, the RSM Medical Genetics Section collaborates with Medics4RareDiseases (M4RD) on ‘The Unusual Suspects’, a free event to teach and inform healthcare professionals about the topic. While rare diseases are very different from each other, the challenges those living with a rare disease face can be similar. This is also true of the families and carers supporting people living with a rare disease in their journey to diagnosis and beyond. 

One such common challenge is navigating healthcare. This can be alleviated by a medical profession with understanding of what it is to live with a rare disease. Hearing the voices of patients and their carers and families is therefore important in aiding clinicians to understand first-hand how rare disease impacts. 

The focal point for this year’s event was communication and inclusivity in rare disease. Alongside speakers including Mr Jono Lancaster, author of ‘Not All Heroes Wear Capes’ and Co-Founder of the Love Me Love My Face Foundation; Dr Lisa Kauffman, Consultant Community Paediatrician and an Associate Medical Director of Children’s Community Health Services; and Ms Kerry Leeson-Beevers, CEO of Alström Syndrome UK, a number of M4RD patient ambassadors shared their stories at the event. 

Aisha Seedat was diagnosed with Morquio Syndrome from birth. She is passionate about supporting children and young adults like her, as well as their families, and appeared at the event alongside her sister. A public speaker, advocate, and guest speaker at De Montfort University, where she studied, Aisha shared her story of having a rare disease and how she has got through life by overcoming the largest of hurdles.  

Aisha Seedat 

“I was delighted to be a speaker at the Royal Society of Medicine for Medics 4 Rare Diseases 10th annual symposium. It was an honour to share the space as a panel discussion on “What Matters To Us?” with Jonathan Lancaster, Hope Winter and my sister, Saffiya Seedat. 

“Deep, insightful conversations about our unique experiences of living with our rare diseases and every aspect of our lives of what we value close to us. It was strange and yet beautiful at the same time to see us all in the panel go through similar experiences, if not the same things, as if we were all in one body.” 

Corrinne Hepworth, Digital Delivery Manager at NHS Business Services Authority, was diagnosed with Addison’s disease (primary adrenal insufficiency) at the point of adrenal crisis when she was a teenager. Corrinne became a patient ambassador for M4RD in 2022 as a result of living with a rare condition and the complexities around diagnosis and experiences in receiving care. 

Corinne Hepworth 

“The Unusual Suspects event was a unique opportunity to come together, meeting and hearing from other advocates and their personal stories. Each talk highlighted the huge barriers and challenges patients with a rare condition and their families face and how a simple conversation can make or break a person's experience of their care and often their human spirit. 

“For me it provides a rare space where I feel seen and heard. It’s vital these conversations and events are taking place and it is always encouraging to know there are students and professionals who are willing to listen and learn how we make things better.  

“Education and awareness are key if we want to change the landscape and outlook for patients who live with a rare condition, which is why it was also inspiring to hear from and celebrate the winner of the Student Voice Prize.” 

This July, join us at 'Unveiling Gene Therapy: Transforming medical practice through ATMPs' to find out how the development of ATMPs is changing treatment and patient experience for a variety of conditions, including rare genetic disorders.

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