Four-year-old Brooke Robinson was the first of hundreds of patients set to benefit from a pioneering new clinic for young people with undiagnosed conditions at Birmingham Children’s Hospital.

The country’s first ever Syndrome Without a Name (SWAN) clinic took place last week ahead of Undiagnosed Children’s Day (29 April).

SWAN is not a diagnosis. It’s a term used to describe children who have a genetic syndrome that doctors have so far been unable to identify. In most cases this is because it’s highly likely they have a very rare condition.

Each year around 6,000 children in the UK are born with a condition that is likely to remain undiagnosed and for many of these families this can lead to a feeling of isolation and increased worry. The symptoms experienced vary but the challenges faced by those living with a SWAN can be complex.

Working with SWAN UK, Birmingham Children’s Hospital’s new monthly clinics will offer joined-up care and support to young people and their loved ones, along with genetic research and testing that could lead to diagnosis.

The hospital is a specialist centre for the treatment of rare diseases, treating more than 9,000 young people from across the country each year. It’s also actively supporting the national 100,000 Genome project, which is looking to transform healthcare by making care more personal, as well as creating a better understanding of genetics and rare diseases.

Dr Larissa Kerecuk, the Rare Diseases Lead at Birmingham Children’s Hospital, said: “We’re very proud to be leading the way with the first SWAN clinics in the country. Read more

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