Rare Conditions: The Stories Behind the Stats

Presented by Sangeeta Kandola

The realities of lives lived beyond the statistics

1 in 17 people in the UK will be affected by a rare disease during their lifetime, whether through a diagnosis or in supporting a child, friend, or loved one. Living with a rare condition can feel isolating, often frustrating and even debilitating.

Approved by Genetic Alliance UK.

Partner films

Raising awareness and providing treatments

Developed and funded by HRA Pharma. For many people living with rare conditions, the journey to an accurate diagnosis can be long, frustrating, and worrisome. HRA Pharma understands this and is dedicated to raising awareness as well providing treatment for conditions such as Cushing’s Syndrome. For Rare Disease Day we spoke to Dr Kate Scoffings, a former Cushing’s Disease patient, and consultant Professor Mark Gurnell to find out more.

Bring relief, support and resources to families

Developed and funded by Mirum Pharmaceuticals. For most of us, scratching an itch may provide relief, but for those living with the rare liver condition Alagille syndrome, itching can be constant and debilitating. Alagille Syndrome often strikes in childhood and, for the sufferer and their family, can affect every aspect of life, from sleep to schooling. Mirum Pharmaceuticals is working to bring relief, support and resources to families.

Advocating and supporting one another

Developed and funded by Sciensus. Progeria is a rare genetic disorder causing rapid ageing in children. Life expectancy is about 15 years. Sciensus is dedicated to connecting people with rare conditions, like Progeria, through bespoke digital communities. These online communities enable people and their families to advocate and support one another in a secure, safe environment regardless of geography or language. Not only does Sciensus help connect patients with online communities, but they also help by getting them access to life-changing medicines.

Prioritising innovation to provide next generation medicines

To people living with rare diseases, finding a solution would mean everything. Vertex Pharmaceuticals’ unique strategy prioritises innovation, with hopes to provide next generation medicines to benefit those living with rare and serious diseases, which have often been overlooked. Developed in partnership with Vertex Pharmaceuticals.

Shining a light on Stevens-Johnson syndrome

3.5 million people in the UK are affected in some way by a rare condition in their lifetime. With 7,000 different conditions and new conditions regularly identified as research advances, there are real challenges in coordinating healthcare, diagnosis and treatment. One of those rare conditions is Stevens-Johnson syndrome. Marian, who lives with the syndrome, discusses her experience and the long journey to diagnosis. She is joined by Louise Fish, CEO of Genetic Alliance UK, who shares how typical these diagnosis experiences are for those living with rare conditions.

Approved by Genetic Alliance UK.

Presented by

Sangeeta Kandola

Sangeeta works as a presenter across ITN News, ITV London and the weekend Channel 5 News. Sangeeta is a regular reporter and presenter for ITN Business - and can turn her hand from hard news to human interest stories. She is a professional at delivering information in an informative and engaged way, and is a natural interviewer - getting the best out of interviewees with her warm, approachable style. Sangeeta has also worked as an anchor for Sky News and Setanta Sports News.

Watch the full programme

Each film included in this programme has been approved and complied by the organisation associated with that content as identified in the descriptions above.

Thanks to our association partner

Genetic Alliance UK 2024

Genetic Alliance UK is the largest alliance of organisations supporting people with genetic, rare and undiagnosed conditions in the UK. Our members and the people they support are at the heart of everything we do. We advocate for fast and accurate diagnosis, good quality care and access to the best treatments. We actively support progress in research and engage with decision makers and the public about the challenges faced by our community.

For more information visit the Genetic Alliance UK website

Thanks to our partners

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