S5 E2 - DHDDS: Turning a Diagnosis into a Global Support Network
Update: 2025-06-09
Description
In this episode, Helen is in Guy's Hospital London, supported by the South East Genomic Medicine Service, talking to Mel Dixon about her experience with the rare genetic condition DHDDS.
After two of Mel's children were diagnosed with DHDDS, Mel and her husband Charlie founded Cure DHDDS, a charity set up to raise awareness, support families and help drive research into the ultra-rare DHDDS gene mutations. Mel tells us about their experience as parents dealing with the journey through the diagnostic pathway, and setting up a global support network for other families affected by this condition.
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