One of the few things more difficult than treating Duchenne muscular dystrophy is having to deliver the news of the diagnosis to a patient family.
Duchenne MD is the most severe form of muscular dystrophy and is typically diagnosed in childhood. The disease affects a protein that is important for keeping muscle fibers intact. In its absence, muscles break down more easily and the body cannot keep up with the repairs. This results in progressive weakness.
Patients eventually lose the ability to walk, and later on experience heart and lung complications. They often don’t survive into adulthood. It’s found in 1 in 3,500 to 5,000 live births.
“It’s really devastating to have to deliver the news to families because you are telling them their child will not have a normal life expectancy,” said Dr. Kathryn Mosher, pediatric physiatrist and medical director of the Neuromuscular Clinic.
Standardizing the complicated care of Duchenne
Parent Project Muscular Dystrophy (PPMD) is a non-profit organization whose mission is to lead the fight to end this disease. Standard care guidelines for treating Duchenne were established by a group of medical experts around the country, and PPMD seeks to ensure those guidelines are being carried out.
Akron Children’s Hospital’s neuromuscular program was recently named a Certified Duchenne Care Center Program by PPMD following an extensive review of its care protocols. It’s one of fewer than 30 certified centers nationwide.
“I’m extremely proud of the team we’ve been able to assemble. Every team member is dedicated to delivering high-quality care to the kids,” Dr. Mosher said. “Our goal is to help be part of rewriting the story of Duchenne.”
PPMD staff spent two days at Akron Children’s meeting with team members and observing them in action, thoroughly evaluating the program and ensuring guidelines were being followed.
“They did their homework. They are serious,” Dr. Mosher said.
More than 10 hospital departments comprise the team
Team members include representatives from neurology, physiatry, orthopedic surgery, pulmonary, cardiology, endocrinology, physical therapy, occupational therapy, nutrition, palliative care, social work and a nurse coordinator.
Dr. Mosher said there are currently 20 patients in the program.
“I’m sure there are more in the community than we treat because it’s not always easily identified by parents,” she said.
Dr. Mosher said Duchenne typically presents in young boys starting at about age 3-5 years. Kids who toe walk or have trouble getting up from the floor or going up stairs should be evaluated.
“The sooner we can identify it, the sooner they can get care and we can make a difference,” she said.
Contact your child’s pediatrician or the Akron Children’s Hospital Neurodevelopmental Science Center (NDSC) at 330-543-8050 to learn more.