Undiagnosed Children's Day 2022

Approximately 6000 children are born in the UK each year with a genetic condition which is likely to remain undiagnosed and around 50% of children currently undergoing genetic testing won’t get a diagnosis. SWAN UK (Syndrome Without a Name) is currently the only UK based support specifically for these children and their families. On Undiagnosed Children’s Day, they look to shine a light on undiagnosed genetic conditions through a series of fundraising and awareness initiatives, which will help them continue supporting those affected.

To mark the day, we heard from Dr Jennifer Gardner, Consultant Clinical Geneticist (All Wales Medical Genomics Service- AWMGS) and Flora Joseph, Genetic Counsellor (AWMGS) on the impact of rare disease on families, the importance of diagnosis and the continued work of SWAN UK.

A diagnosis can bring hope and reassurance to families. It can also allow appropriate reproductive decisions to be made. Without this, families may struggle with a lack of information and resources, the financial cost of care, and difficulty in accessing appropriate medical expertise.

Families affected by rare diseases are likely to have many professionals involved in their care. It can be difficult for families to navigate this and know where to seek advice or who to contact.

The Syndrome Without a Name (SWAN) Clinic is a 2-year pilot project aiming to improve the services that are offered to this vulnerable group of patients. It includes professionals from various backgrounds including doctors from various specialties, nurses, a genetic counsellor, care coordinators and scientists. The aim is to bring expertise from various specialists together in one service to reduce delays and the need to attend various appointments in different clinics.

Patients are referred by their local specialists and reviewed as part of the clinic. Further investigations may then be organised (genomic or otherwise). For some, this may lead to a diagnosis. Where a diagnosis cannot be reached, families will be provided with support from a genetic counsellor and care coordinators in accessing local services. Families can contact their local hospital specialists to request referral.

 

For more information on Undiagnosed Children’s Day 2022 visit: https://www.undiagnosed.org.uk

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