He's gradually getting weaker, but his star power is stronger than ever. "You're a real celebrity." Drew Bonner is an inspiration to kids with Duchenne Muscular Dystrophy, a fatal genetic disorder where muscles waste away. "I said ok, what are the treatments, where do we go from here? We can deal with this, and the doctor told us there are no treatments, there are no cures."
He doesn’t depend on a wheelchair yet but leans on others to get around. "It's a challenge I have to overcome. It's one more hurdle to jump over." Researchers say they've cleared a huge hurdle in finding a treatment. "It's at our fingertips, getting these kids out of their wheelchairs."
Doctor Eric Hoffman is part of a world-wide team developing the technique called Exon-Skipping. The injectable drug cocktail works like a band-aid, covering up the mutation that causes muscle weakness, allowing cells to make a healthier protein that improves muscle function. "It's almost if you were reading a recipe and instead of putting salt, your mutation said put in lots of hot pepper instead. Well, your cake wouldn't be so great. This band-aid lets it skip over that wrong pepper instruction."
When tested in dogs with muscular dystrophy, the animals went from struggling to walk to running. The canine version of the disease affects the same gene as the human version. "Time is not on our side." Drew understands the urgency, but refuses to be defined by a disease. "How's life any fun if you're just gonna be a downer? Why not just live it and be happy?" A boy who's focused on being 13, while doctors work on finding his cure.
Researchers say this strategy could help up to 90-percent of people affected by Duchenne Muscular Dystrophy. Trials involving people are underway in Europe.
BACKGROUND: Muscular dystrophy (MD) is a disorder that gradually degenerates the body's muscles which control movement. It is an inherited disease caused by a genetic mutation, preventing the production of proteins needed for healthy muscles. MD progressively weakens voluntary muscles, and the different types of MD vary with age of onset and rate of progression. Symptoms include muscle weakness, lack of coordination, and progressive crippling or loss of mobility.
DUCHENNE MUSCULAR DYSTROPHY: Duchenne muscular dystrophy (DMD) is the most severe form of the disease, mostly affecting young boys, and is the most common from of MD that affects children. DMD first affects the muscles in the pelvis, upper arms and upper legs. Symptoms often begin between the ages of four and six, including frequent falls, large calf muscles, weakness in lower leg muscles, and difficulty getting up from lying down.
Children with DMD are recommended to see a heart and lung specialist, as the heart may also be affected by the disorder. With progression of the disease, the lungs may also weaken, and a ventilator may be needed to assist with breathing. Most children with DMD are unable to walk by late childhood, often requiring a wheelchair by age 10 or 12. Patients with DMD often do not survive past their late teens or early adulthood.
TREATMENT: There is no treatment to cure any form of muscular dystrophy. The National Institute of Neurological Disorders and Stroke states helpful treatments include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery.
As MD weakens the muscles, fixations develop in the joints, tendons shorten, and flexibility decreases. Physical therapy can help delay the formation of fixations in the joints. Range of motion exercises are practiced during physical therapy, benefitting flexibility.
DRUG TREATMENTS: The only medication prescribed to patients with DMD is prednisone, which can improve muscle strength. One promising drug about to debut in human trials has been shown to cover up the gene mutation that causes DMD in dogs and encourage the production of the protein missing in patients with the disease. The drug is a "cocktail" of laboratory-developed compounds. If the drug is shown to be effective and safe in humans, it could benefit up to 90 percent of people with DMD.
FOR MORE INFORMATION, PLEASE CONTACT:
Genetic Counseling
Children's National Medical Center
(202) 476-4925
http://www.childrensnational.org
