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My son Tom has a rare and fatal degenerative disease for which there is no cure.
My heart breaks to say it out loud and some days I just want to pretend it isn’t true, but the fact is that my gorgeous son will eventually become locked in his body and he’s likely to lose his life by his mid-twenties.
Tom was diagnosed with Duchenne muscular dystrophy when he was just four years old. Duchenne is one of the severest forms of muscular dystrophy and will gradually cause all Tom’s muscles to weaken, leading to an increasing level of disability.
Duchenne muscular dystrophy is a devastating condition that’s diagnosed in around 100 boys every year in the UK – typically when they are just three to five years old. Boys with the condition experience a relentless deterioration of their physical abilities, eventually becoming heavily dependent on others for round-the-clock care. Sadly, there is no cure and the condition is fatal.
It’s caused by faults in a gene which plays a vital role in making muscles work properly. This gene should produce an essential protein called dystrophin. It is a lack of dystrophin that causes the relentless muscle wasting and weakening faced by boys like Tom, living with Duchenne.
Most children lose their ability to walk between the ages of 10 and 14 years. They will eventually become paralysed and many lose their lives by their late twenties. Although this cruel disease is incurable, new treatments to slow down disease progression offer vital hope to families.
The latest research we’re funding into Duchenne is led by Action Hero Professor Volker Straub, who is looking at calcium in the muscles.
“We’ve known for many years that boys with Duchenne muscular dystrophy have too much calcium in their muscles,” Professor Straub explains. “We’ve identified a possible new medicine that might reduce this calcium overload and we are testing it in the laboratory.”
“Our vision is to develop a medicine that increases muscle strength and slows down disease progression – helping boys with Duchenne muscular dystrophy to walk longer without a wheelchair and improving their overall quality of life.”
Around one in every 3,500 boys in the UK has Duchenne muscular dystrophy. Through this exciting research, Professor Straub and his team are determined to do everything they can to help.
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I hope you enjoyed finding out more about Duchenne and my research. What a great decision you’ve made to support Action Medical Research. Your ongoing support will give hope to families like Tom’s. Research like mine is only possible with support such as yours.