Fight for their lives
SAXTONS RIVER -- Max Leclaire's DNA is changing. It doesn't turn him green and give him super strength like the Incredible Hulk, but it is saving his life.
Ten-year-old Max, of Saxtons River, is one of 12 children in the country participating in a clinical trial testing the effects of a drug that reverses the symptoms of Duchenne muscular dystrophy.
Eteplirsen, the drug created by Sarepta Therapeutics, helps Max's body create dystrophin, a protein he lacks because of Duchennes, and alters his genetic code, replacing the missing chromosome, to provide structural stability in his muscle tissue.
As Max has consistently gotten stronger each week he's received the treatment, the news is bittersweet for the family. His older brother, Austin, 13, also suffers from the rare disease and his symptoms had progressed beyond the qualifications of the clinical trial so that he isn't able to get treatment.
Austin, who was diagnosed at 3 years old, has been confined to a wheelchair since he was 10, when his muscles began to deteriorate because of the disease, which can be fatal, the boys' mother, Jenn Mcnary said.
Max, who was diagnosed at 3 months old, was on the same path as Austin and close to losing the ability to walk also until he qualified to get weekly treatment at Nationwide Children's Hospital in Columbus, Ohio.
"How can we celebrate this drug when one of our kids might die?" she said. "We're not mad at the drug company, we just want to know what we can do to help get this drug into the hands of every kid with Duchennes."
Because Max has shown improvement he will continue to get treatment as long as it helps him produce the protein, and every three months will have to perform a walking test to track his strength and progression, Mcnary said.
As Max runs around, goes swimming and plays with his favorite "Ben 10" action figures on the floor, Austin has trouble lifting his arms above his head and requires help getting in and out of bed.
"If my brother got on the drug, too, it would help him like it's helped me," Max said. "It could make him strong, too."
Austin said his hope to be on the drug is simple; to make him stronger so he could get in and out of his wheelchair and bed by himself.
"I'd rather be able to do stuff by myself. I think both of us should have the drug, we both have the same thing missing," Austin said. "I'm hoping it could give me strength but it could also help other kids keep walking before they lose the ability to."
Although it's sometimes difficult for Austin to watch his younger brother being able to do all the things he knows he can't, he's glad Max is on the drug.
"I'm jealous of him, but I'm happy for him, too," Austin said. "If I lose more of my strength I might not be able to hold myself up."
According to a recent report from the National Institutes of Health, approximately one in every 3,600 boys have Duchennes in the United States. Most don't live to 25.
For Craig Mcnary, the boys' stepfather, it's been heartbreaking to see Austin lose his motor function knowing there isn't anything he can do.
"It's difficult because we can't just go down the brook and go fishing or jump on the back of the ATVs Austin loves so much," he said. "Having people watch us, him in the chair, it's tough."
Despite numerous request to the drug company, Sarepta officials have told the family the reason Austin and other children can't be put on Eteplirsen yet is because of "complex regulatory, political, manufacturing and fiscal issues that need to be addressed before a compassionate access program can be developed."
Jenn Mcnary said the Federal Drug Administration and the doctor administering the drug to Max at Dartmouth Medical Center in Lebanon, N.H., have both stated they would approve Austin to receive Eteplirsen, they just need the OK from Sarepta.
"If there's manufacturing for 12 why no 13?" she said. "If it's money, there's fundraisers ... It can't be enough to say ‘be patient' when we have a child dying."
Austin doesn't have a day to lose, none of the kids with Duchenne do, Craig said.
"We're trying to save Austin's ability to feed himself, to go to the bathroom by himself, to swallow," he said. "Kids with Duchenne don't get better unless they're on a drug like this."
Since news of the drug's success went public last week, Sarepta's stock has nearly tripled.
On April 2, Sarepta stated that Eteplirsen didn't help patients walk even though it did increase dystrophin levels. Those results were based on the first 24 weeks of the trial in which some of the boys were on the drug, others on a placebo.
However at 36 weeks, patients like Max, who were treated with the drug every week, showed significant difference between those on the placebo or patients who took the smaller dose of Eteplirsen.
On July 24, the day the report from Sarepta was released, stock prices soared from the $3.46 closing on Monday to finish at $8.52 per share.
"We won't stop working until all kids have access to this drug because we know it works," Jenn said.
Phone calls to Sarepta asking for comment on this story weren't returned.
Josh Stilts can be reached at firstname.lastname@example.org, or 802-254-2311 ext. 273.
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