Improving Lives, Searching for a cure
I’m Marie, sometime marketeer & now Events Fundraising Officer. Having spent 20 years working in the corporate IT arena, I have recently joined Action Duchenne (registered charity number 1101971) – a charity focused on trying to find treatments and a cure for Duchenne Muscular Dystrophy, a cause very close to my heart. More than just a day job, my youngest son Leo was diagnosed with Duchenne in 2014 just shy of his 3rd birthday.
Duchenne muscular dystrophy (DMD) is a rare genetic muscle wasting condition affecting around 2,500 people in the UK – the vast majority being male. The body cannot produce dystrophin, a protein needed to build muscles and as a result, those affected will experience a progressive loss of function as every muscle in their body deteriorates.
Usually diagnosed around the age of 4 years, parents are told the devastating news that the life expectancy of their child is around mid-twenties – the condition is 100% fatal; the worst news you could ever expect to hear. DMD severely affects the quality of life; most boys will be in a wheelchair full time by the age of 12 and eventually all of the muscles in the body stop working & their ability to do everything is robbed from them due to paralysis. Ventilation is needed to assist with breathing and death usually occurs from lung and heart failure.
There is currently no cure for DMD or any treatment options available to the entire population who have the condition – this is what our charity is working hard to change.
Established in 2001, at Action Duchenne we work tirelessly to deliver the overall vision of the charity – ‘a world where lives are no longer limited by Duchenne muscular dystrophy’ – through our three core objectives:
Developing effective treatments for all
Building a community
Striving for a more inclusive society