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Blue Genes

Jan 30, 2014 09:26AM ● Published by Style

Erik Henricson, M.P.H., has worked with patients affected by Duchenne muscular dystrophy (DMD) and other neuromuscular diseases for more than a decade.

As associate director for clinical research at the UC Davis Department of Physical Medicine and Rehabilitation, he is well aware of the hardships families face when caring for a child with DMD. “[It] continues to be among the diseases with the highest total cost of health and medical care of any chronic disease,” Henricson explains. “A family-centered approach to helping people with DMD is really necessary…I see parents all the time who selflessly put their needs far behind the needs of their kids, and it’s our job to help them find ways to take care of themselves as well.”  

The Centers for Disease Control and Prevention reports that DMD occurs among approximately 1 in 3,500-6,000 boys. It’s considered the most common form of muscular dystrophy amongst children and is characterized by a lack of dystrophin, a protein in muscle cells. The disease, which only affects girls in rare cases, is a genetic disorder passed from female carriers with abnormal dystrophin on one of their X chromosomes to their children. DMD begins causing muscle weakness in the hips, pelvic area, thighs and shoulders between ages 3-5, and those affected can expect to experience weakness in their heart and respiratory muscles by the time they reach their early teens. Additionally, many patients begin to lose the ability to walk between 8-12 years of age, and most use a wheelchair full-time by age 14.

 

According to Henricson, the major experimental approaches to “fixing” the dystrophin gene are “ways to trick the body into skipping over the bad pieces of genetic code to make a slightly smaller but mostly functional dystrophin protein. We’re not at the point of a ‘cure’ per se, but we are right on the cusp of being able to significantly reduce the impact of having DMD.” He adds that use of the steroid drug prednisone, supportive cardiac medications, and non-invasive ventilator supportive technologies have improved both overall survival rates and quality of life for patients.

For more than 60 years, the Muscular Dystrophy Association (MDA) has also worked to find treatments and cures for DMD, in addition to amyotrophic lateral sclerosis (ALS) and other neuromuscular diseases. The nonprofit’s founders—a group of adults with muscular dystrophy and parents of children with the disease—set out to conquer neuromuscular diseases through a combination of research funding, comprehensive health-care services, and support for families nationwide. According to Jamey Rosner, health-care services coordinator at the MDA’s Sacramento office, funds raised locally stay local and are contributed almost entirely by individual donors. “[The MDA] rallies local communities,” she shares, “to fight back through advocacy, fund-raising and local engagements to create more awareness about these rare diseases, as well as provide resources, support and programs that assist them directly with the diagnosis.”

“Our team’s research shows that many people today with DMD are surviving well into adulthood and doing things that adults normally do, like going to college, getting jobs and getting married,” Henricson adds. “In the past, that simply did not happen, and it offers families more hope for their child’s future.”

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