BOSTON — Duchenne muscular dystrophy is 100 percent fatal, according to Christine McSherry.
Her son, Jett McSherry, has been living with this muscular time-bomb for almost 20 years.
"Jett was diagnosed in 2001 at the age of 5," she said. "He started falling a lot -- spontaneously just because of muscle weakness."
But for the last five years, Jett has been using a drug called Eteplirsen, which goes by the brand name Exondys 51.
His mother says they noticed improvement within a couple of months.
"And about nine weeks later, we noticed a change in his respiratory status," Christine said. "We also noticed a change in his torso -- the way that he was able to sit."
But some medical experts say clinical proof the drug works is lacking.
In fact, this summer, a Boston-based watchdog group known as ICER, Institute for Clinical and Economic Review, panned Exondys 51 as a low-value drug given its price of about $1 million a year. That move could persuade insurance companies to deny coverage for the drug.
"This is now an additional obstacle or rock in our rare disease community pathway," Christine said.
ICER blames the manufacturer for not providing "high-quality evidence of benefit for Exondys 51."
It suggests many patients and families are surely losing out and that it is the manufacturer that is truly benefiting from what it calls a deplorable situation.
Families and patients with DMD deserve better, ICER says.
But Christine McSherry says ICER is refusing to consider pertinent data like what Duchenne families showed them in before and after videos that suggest significant improvement in muscular tone.
Christine credits Exondys 51 for her own son's health, which is gratefully not where it should be.
"Typically at the age of 24 and having Duchenne, we would see a significant cardiac decline, respiratory decline and an inability to perform activities of daily living," Christine explained.
Jett is finishing college and while he can't do everything, he is certainly living.
[ Approval for Duchenne muscular dystrophy drug giving family hope ]