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Health Beat: A mother’s mission to save her sons

By Melanie Falcon, Anchor / Reporter, @Melanie_Falcon, MFalcon@wfmz.com
Published On: May 19 2014 11:09:15 AM CDT
Updated On: May 19 2014 04:46:55 PM CDT

Duchenne muscular dystrophy affects mostly boys and usually kills them before their 21st birthday.

KINGSTON, Mass. -

One boy uses the stairs, his brother a ramp. Both have Duchenne muscular dystrophy, a disease that affects mostly boys and usually kills them before their 21st birthday.

Max, 12, however, is getting what some are calling a miracle drug, which his 15-year-old brother, Austin, is not allowed to take.

"This is actually completely ludicrous," said Jenn McNary, the boys' mother, who is watching one thriving and the other slowly dying. "I know my son will die if he doesn't get it."

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 10-1/2.

His brother was headed to the chair, too. Young Max was already using a walker, a cane, and occasionally a wheel chair, but he could walk six minutes on his own. That was the test, so he got in to 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. 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 and cofounder of International Duchenne Alliance in Kingston, Massachusetts.

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 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.

"I’m not scared of death," Austin said.

At 15, Austin said he is not afraid to die, which 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.

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