On July 9th a group of parents are walking 50 km from Windsor to Mortlake to raise funding and awareness of DHDDS mutations. Esme, along with other children, will join the walk to complete the final 5k. 

Esme and Rosie have been very good friends for years, sharing a love of art, theatre and dancing. Last year, Rosie’s family found out that two of their three children, including Rosie, have a DHDDS gene mutation which causes a metabolic disorder. Children with these mutations suffer with neurological symptoms such as tremors, myoclonus, learning difficulties, ataxia and seizures. Unfortunately for many with the genetic mutation it seems to be progressive with worsening conditions as they get older. They have been told that as the genetic mutations are so rare (only 70 cases have been recorded in the world so far), and because they have only recently been discovered, there is currently no treatment available for them. The initial aim is to raise £50,000 to help fund research and expedite treatments. Longer term we hope to look at RNA therapies, which we hope can one day cure this disorder.

Please support Esme in her walk to raise money to cure DHDDS.