Mel & Charlie have three children, Tom, Harry and Rosie.
Whole Genome Sequencing identified that both Tom & Rosie have the same ultra rare DHDDS gene mutation. These mutations cause symptoms such as learning difficulties, tremors, myoclonus and seizures all of which can range from mild to severe.
As the DHDDS gene was only decided to be pathogenic in 2021, very little is known about it and so treatment is largely symptomatic. However, this new knowledge has opened doors for the family and they now hope to find a treatment that can treat the cause of the disease rather than just managing the symptoms.
Listen to Mel talk about the diagnosis and how she is focusing her energy on giving her children the brightest future possible.
Listen to Mel here