Your Health: Duchenne Muscular Dystrophy Therapy
GAINESVILLE, Fla -- A treatment for a rare disease is being administered at UF Health.
The Federal Drug Adminstration approved a new therapy for commercial use called Exondys 51 for Duchenne Muscular Dystrophy. Prior to the decision, there were no approved therapies for the disease.
"Duchenne Muscular Dystrophy is a type of muscle weakness that happens in predominantly boys diagnosed around the school age years due to a deficiency in a protein that's responsible for stabilizing or strengthening a muscle membrane," said Dr. Barry Byrne, a professor of pediatrics at UF's College of Medicine.
9-year-old Will Barkoskie from St. Johns County was the first patient in the United States to receive the treatment at the infusion center at UF Health Shands Children's Hospital. Will was diagnosed with the disease when he was nearly 3 years old.
"He's at the point where he can't high five his friends, or can't hug his mom so it takes a lot of relying on others to help with homework, bathing and everything," said Blake Barkoskie, Will's mother.
The treatment restores the absent or deficient dystrophin protein. The therapy addresses a specific mutation for only 13% of Duchenne patients worldwide. The average life span for those with the disease is mid-to-late 20's.
"If we hit the pause button and maybe gain some more of that ability back, then it'll help with his quality of life. It'll help save off the progression of the disease. It's not a cure by any means, but it's adding years to his life," Barkoskie said.
"It's alot, but I still enjoy coming here," Will said.
Barkoskie added that her son will continue to receive treatment until she sees some benefit. Dr. Bryne said it's still too early in the process to tell how Will will respond to the treatment, and how quickly results will be seen.
"To go through all the sacrifices and obstacles that he has, he's met them head on with just this gentle spirit. He hasn't lost hope, and he is full of life and a tremendous sense of humor," his mom said with a smile.
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