Two brothers; one uses the stairs, the other a ramp. Both have Duchenne muscular dystrophy. The disease affects mostly boys, usually killing them before their 21st birthday. However, 12-year-old Max is getting what some are calling a miracle drug. But, his 15-year-old brother Austin is not allowed to take the drug.
“This is actually completely ludicrous,”said Max and Austin's mother, Jenn McNary.
McNary is watching one of her son's thrive and the other slowly die.
“I know my son will die if he doesn’t get it,” McNary explained.
What Austin can’t get is a drug called Eteplirsen. He wasn’t eligible for the drug trial because he was already in a wheel chair, which is where all Duchenne muscular dystrophy patients end up. He has been in the chair since he was 10 ½.
His brother Max was headed to the chair, too, as he was already using a walker, a cane, and occasionally a wheel chair. But, he could walk six minutes on his own, and that was the deal breaker that got him into the drug trial three years ago. He now gets weekly infusions of the drug.
“We saw his disease progression halted,” McNary said.
Halted, and even reversed. Max was walking better, running faster and getting stronger as his weaker brother watched from his wheelchair.
“It is hard because it is there and I can use it but I’m not able to, and Max is on it and he’s getting better,” Austin said.
“Some boys are running, some boys are playing sports,” said Christine McSherry, CEO of Jett Foundation, co-founder of International Duchenne Alliance in Kingston, Mass.
McSherry said never before in the history of this devastating disease has a drug performed so well, ending the inevitable.
“Once those boys decline, they continue to decline, and they go into a power chair,” McSherry explained. “Then their respiratory starts to decline.”
She knows her own 18-year-old son Jett is at that point. Walking may be out, but boys in the trial are showing improved pulmonary function. She is certain getting Jett the drug now would save him.
“There is either this for Jett or nothing else is going to come down the pipeline to save his life, this is it,” McSherry said.
The FDA wants more study data, more information and more proof. Austin and Jett would need to take Eteplirsen for six months at least to get it into their system to begin making the dystrophin protein Duchenne patients lack.
At 15, Austin says he is not afraid to die, which his family says could happen while waiting on the FDA to make a move.
“Give my brother the drug now,” Max said.
“We know without this drug boys will die, period,” McSherry explained.
It’s a desperate wait for them all.
Duchenne muscular dystrophy (DMD) is a vicious form of muscular dystrophy that occurs mostly in boys. It is caused by an alteration in a gene, called the DMD gene that can be inherited, but it also can occur in people who do not have a known family history of the condition. The condition causes progressive loss of muscles function and weakness that begins in the lower limbs. Boys with DMD do not make the dystrophin protein in their muscles. It affects approximately one in 3500 boys worldwide. (Source: www.genome.gov)