Duchenne Muscular Dystrophy (DMD)—if you haven’t noticed our fund-raising drive for this through our support of Team Felix, then… Well, I can only say we’re not doing our job properly!
To keep you up to date we thought it is time for a progress report, not just on money raised towards our £30,000 target, but the work that’s going on as we speak.
What is Duchenne Muscular Dystrophy?
First, though, a quick recap. DMD is caused by a lack of dystrophin—a protein that holds muscles together. Without it, muscles deteriorate and paralysis, heart and lung failure set in, with death usually occurring when the sufferer is in his mid-20s.
We’ve become involved through Felix, the son of close friend Karl Kuhwald. Felix was diagnosed with DMD in 2013. Karl sadly died in 2015 so we’ve joined Team Felix to raise money in his memory to bring the possibility of a cure closer. Boys like Felix, who is seven, are still young enough to benefit from research that could stop the disease in its tracks.
And most sufferers are boys, as a problem with the X chromosome is usually the cause. However, it can also result from a spontaneous genetic mutation, which means it can happen to anyone—indeed, around 30% of cases have nothing to do with inheriting the gene.
Funds supporting research
So, what’s being done? Well, funds raised in 2016 are hard at work. Gene therapy sounds an obvious path to explore, but other avenues are needed too.
Inflammation and fibrosis—a thickening of tissue that interferes with normal function—are big problems. Research is being carried out into a protein that appears to interfere with these processes and enable patients to walk for more of their life.
Meanwhile, muscle biopsies are currently a necessary part of clinical trials. Yet these are not only stressful, but differences in the ways muscles exhibit the disease can make some samples redundant. Funds are going towards developing a way of imaging that allows changes in dystrophin to be tracked without biopsies.
Part of this requires the establishment of biomarkers—a biological feature that can be used to measure disease progress—so that blood samples can be used to recognise stages of the disease. Much less invasive than biopsies, this means that children currently not suitable for clinical trials could take part in new treatments.
Halfway to target
All of this, as you can imagine, takes a lot of money. There’s so much potential in the research, so little time left for children like Felix who stand to benefit most from advances in treatment.
We’re thrilled that, with £17,000 in the pot, we’re currently over halfway to our target of £30,000. Obviously, we’re going for gold, so look out for our next major fund-raising bash in September; we’ll be announcing it over the summer.
We’ll give you a big cheer, though, if you’d like to contribute in the meantime. Click through to our Just Giving page now to bring that target just a bit closer.