What is Duchenne?
About the Disease
Boys with Duchenne are typically diagnosed before the age of five. Their muscles swell and joints become restricted. They are easily fatigued and have difficulty keeping up with others their age. Most Duchenne boys need a wheelchair between the ages of 10 and 12. The simplest of tasks, such as holding a fork or turning over in bed, becomes very difficult. In the later stages, heart and breathing muscles begin to fail. Historically, most boys with Duchenne have not survived their teens.
Gavin and Logan
One in every 3,500 boys worldwide (an estimated 20,000 babies annually) is afflicted with Duchenne muscular dystrophy. The disorder affects all ethnic and social groups. The gene mutation that causes Duchenne is usually passed from mother to son, but fully one-third of cases are spontaneous.
There is no cure…and it can happen in any family.
The Need for Research
Promising Duchenne research is being stalled due to lack of funding and bureaucracy. For the families of Duchenne boys, this is a tragedy. As other disease groups fought for federal funding, there was no muscular dystrophy organization fighting for those dollars.
As a direct result, our boys are not much better off than when they discovered the Duchenne gene. Compare this with Cystic Fibrosis, where a committed organization that was committed to research and used federal funding has doubled the life expectancy of their kids.
Life expectancy for Duchenne has barely improved. Take a look at this graph to see how research dollars save lives.
Reason for Optimism
Gene therapy and stem cell research have made huge advances in just the last year. These actual cures could be any where from 5-20 years away.
There is however, a new class of drugs and therapies which will not cure the disease, but will fool the body into producing dystrophin or will upregulate other proteins that could take the place of dystophin, while at the same time eliminate some of the damage that occurs in the muscle cells of Duchenne boys. Although boys treated with these drugs will never be world class athletes, there is hope that they could lead a relatively normal life, much like diabetics.
