when doctors diagnosed six-year-old owen worsfold with duchenne muscular dystrophy (dmd), his family was completely shocked.
there were never any signs.
sure, he’d get tired quickly while playing soccer and would fall sometimes, but his parents thought he might just be awkward since he was a big kid for his age. he’d always hit all his milestones and there was no family history of the rare muscle disorder. the only clue were his calves, which were larger than average. while this happens to be a common trait for boys with duchenne, owen’s parents never imagined it would be a sign of a fatal genetic disease.
“suddenly, you’re told your child is getting weaker over time,” says nicola worsfold, owen’s mother.
“we had no idea that he had a genetic disorder that would limit him from walking in his teenage years. the fact that he’s going to be in a wheelchair at some point and not going to live past his third decade of life — all of those things are very difficult for a parent to swallow.”
duchenne muscular dystrophy (dmd) is the most common fatal pediatric disorder. the duchenne gene is found on the x-chromosome and therefore affects mostly males, however in rare cases it affects females. a progressive neuromuscular disorder that causes a loss of motor, pulmonary, and cardiac function, and ultimately, premature death, duchenne is caused by a mutation in the gene that encodes for dystrophin, a lubricating protein supports muscle fibre strength. when dystrophin is missing in the body, muscle cells are easily damaged, which causes progressive muscle weakness in the entire body.