Hayden, was diagnosed with Duchenne Muscular Dystrophy on the 14th February 2012. Duchenne is a life limiting muscle wasting condition. It’s a genetic flaw which results in an inability of the body to produce Dystrophin. Dystrophin is the protein needed for the body to repair muscle tissue. The condition can either be hereditary, or can result from a one-off gene mutation. It’s a rare condition, impacting 1 in every 3500 male births and 1 in 35000 females – reason for the delta, it’s a flaw in the X-chromosome, and boys only have one. Despite the condition’s rarity, it is still the number 1 genetic killer of children in the UK. The typical profile for the condition is diagnosis at 4 (due to delayed motor milestones and odd walking gait), wheelchair bound by 10, paralysis late teens and terminal at 28.
Hayden turned 5 in May, he has blond curly hair, blue eyes and a certain way with ladies! He attends mainstream school, is bright and happy and full of life. He joins in in all activities, though he is not as mobile as his peers. He loves swimming, reading and horse riding, it really helps with his confidence and balance. The only signs of his condition are that his walking is very slow, he has an odd gait, struggles to run or jump, and frequently falls over. He knows he has Duchenne, but doesn’t know the impact of the condition. He is unphased by the many hospital visits he has undertaken and the medical team he sees (last visit had 6 consultants in the room with us), he accepts the stretches we must do every night and the night splints he must wear whilst asleep.
There is no effective treatment for the condition and no cure. That’s where the research teams come in. There are many drugs in development currently that may provide effective treatment, including gene therapy and drugs that ‘skip’ the genetic flaw. Continued research, development, trialling and hopefully successful approval of these drugs requires significant funding, and that’s where the charity Action Duchenne comes in. Action Duchenne funds the most promising research into potential treatments, along with also providing the medical register of boys with the condition, critical advice on A&E treatment of Duchenne boys and educational assessment (Duchenne is frequently associated with ADHD and learning difficulties).
Action Duchenne are a small charity, only 11 staff, but the focus they provide for research funding and the support and hope they provide to families and patients alike is absolutely invaluable.
I have been stunned by the response from many friends and colleagues in their generosity and support offered, as we endeavour to raise awareness of the condition as well as raised much needed research funds. £100 funds a clinical researcher for 1 day. £30,000 funds an Oxford Postgraduate research position for 1 year.
Help Hayden and children like him to live full, happy and long lives, by raising funds for Action Duchenne and join the fight to cure Duchenne.