Last year Charlie and me found out that two of our three children, aged 13 and 8, 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.

We 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 £500,000 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.