Vermont Brothers Get Deadly Disease, But Only One Gets Drug

Good Morning America
Vermont Brothers Get Deadly Disease, But Only One Gets Drug

View photo

Vermont Brothers Get Deadly Disease, But Only One Gets Drug (ABC News)

The Leclaire brothers were born with the same deadly disease -- Duchenne muscular dystrophy. Max, 10, is in a clinical trial for a new drug that has miraculously reversed some of his debilitating symptoms, but Austin, 13, has been turned away.

Austin watches from his wheelchair as his younger brother's strength continues to return. Max was able to climb a big sledding hill in his Saxtons River, Vt., backyard, but his older brother's muscles are so weak, he can barely feed himself.

The boys have the same gene mutation that the drug targets and will eventually kill them, but because Austin can no longer walk, he did not qualify for the trial.

"My brother says he's doing it for me, that he's trying really hard," Austin told "That's why he wanted to do it."

For the last 52 weeks, Max has been enrolled in a clinical trial with the drug eteplirsen, manufactured by Sarepta Therapeutics. Once a week, he receives intravenous infusions in a double blind study.

But after only 16 weeks, his parents suddenly realized he was on the drug and not a placebo. Not only was the progression of the disease slowing down, "he has even gained skills," said his mother, Jenn Mcnary, 32.

There is no cure for Duchenne muscular dystrophy. Until now, doctors can only use steroids, which just temporarily delay the inevitable loss of muscle strength.

"My husband noticed first at the airport," said Mcnary. "He said, 'I think he's on the drug and a high dose.' Max opened one of the McDonald's milk jugs with the sealed top. He never had that sort of grip strength."

For the last year, Max has flown to Nationwide Children's Hospital in Columbus, Ohio, for his IV treatment, but now, he goes to the Dartmouth Medical Center in nearby New Hampshire.

After seeing the success of the drug, the first of its kind, researchers put all 12 of the study subjects on that treatment.

According to Mcnary, the children on the highest dose of the drug have made a 68-meter gain in distance in six-minute walking tests.

But in the time that Max has improved, Austin has deteriorated and now can't even pick up a drinking glass, said his mother.

"He has lost his ability to unlock a door handle and leave the house and move from the bed to the wheelchair," said Mcnary. "And in the next six months, we expect more sleep apnea that will require a breathing machine."

Austin enjoys his computer, but he can no longer use his go-cart because he has lost the back strength to sit up. He is homeschooled by his mother because he gets too fatigued in a regular classroom.

So far, the Mcnarys' pleas to the drug company have fallen on deaf ears.

"I have been getting very vague answers," said Mcnary. "I keep getting the same answer. They tell me to be patient."

Dr. Edward M. Kaye, chief medical officer and senior vice president of Sarepta, wrote in an email to Mcnary that she shared with that he is "sympathetic" to their case.

"This remains a priority for us to get the drug not only to Austin but to other children who may benefit from the therapy," he said in the email. "This is a challenging request since it involves complex regulatory, political, manufacturing, and fiscal issues that need to be addressed before a compassionate access program can be developed."

One Brother Gets Vital Drug, Second Brother Denied the Drug

A spokesman for Sarepta told that the "path forward" for eteplirsen will depend on its discussions with the FDA later this year.

In a statement, the company said it "... understands the urgent need of boys with DMD and their families," but cannot publicly speak about patients in its clinical trials.

"We have aligned with the DMD community in the fight against this disease for many years, and we are committed to finding the most expeditious regulatory path forward to bring eteplirsen quickly and responsibly to all of the boys who may benefit from it," the statement said. "Our priority is to gather and analyze the safety and efficacy data from the ongoing Phase IIb study, which will form the basis of discussions with the FDA to determine the most appropriate path for eteplirsen."

Duchenne muscular dystrophy affects one in 3,500 male births, about 20,000 children in the United States and 300,000 worldwide, according to Cure Duchenne, one of three organizations that have funded the clinical trial.

The muscular disease strikes between the ages of 3 and 5 as boys progressively lose their ability to walk. Eventually, they are wheelchair bound, their upper body strength fails, and, like Austin, they eventually cannot raise their arms to feed themselves.

Later, their breathing is affected and they require tracheotomies and breathing assistance. Eventually, the heart and lungs fail.

The drug is not a cure, but shows promise, according to Cure Duchenne founder Debra Miller, who has a 15-year-old with the disease. It is the first to target specific mutations in the gene that makes dystrophin, the protein that helps strengthen muscle fibers.

"We want to do everything we can to get this drug for all the boys and we are working with Sarepta," she said. "My son is still walking, but I can definitely see the weakness and it's like a stab in the stomach. The worst part is that every year he can do less than the year before."

But with only 12 research subjects having access to the drug right now, "It's a good news, bad news story," she said.

"We lived our life thinking this was a hopeless disease, but we have a good feeling about this drug," said Miller. "We are very hopeful and very cautious."

Her son is not in the clinical trial because the drug does not target his specific genetic mutation. But, she said, this trial has given other families the "proof of principle" that this type of drug can work.

As for the Mcnarys' children, Austin was diagnosed at the age of 3, when Max was already 3 months old -- too late for genetic testing. When Mcnary wanted more children, she was found not to be a carrier. Rather, she had a spontaneous mutation in her eggs.

"This can happen in any family," said Mcnary, who has six children in all, the Leclaire boys, who are from a previous relationship, her husband's twins and two healthy children from their marriage together, aged 4 and 1.

In the last year, the family has been "torn emotionally," according to Mcnary.

"I am clearly happy for Max because he is doing so well and exceeding our expectations for this drug," said Mcnary. "But it's taking much longer than we ever thought for the drug company to at least grant access to his brother [Austin] who is sitting home watching his brother get treatment."

"For the longest time, I felt so scared, because in the beginning, we weren't allowed to say anything about the clinical trial," she said.

But now Mcnary her husband, Craig, who runs a Roto-Rooter franchise, have been talking to whomever will listen. For the past six months, they have been emailing Sarepta's executives.

"I am like a broken record," said Mcnary. "I congratulate the drug company who are now public and doing well. Their stocks are going up. We are not just looking out for Austin. We have a lot of friends in the (muscular dystrophy) community. People are losing their upper body strength just waiting for this. This is urgent right now."

View Comments (2022)

Recommended for You

  • Planned Parenthood Shooting Suspect Was Monitored by Security Cameras as Standoff Unfolded

    A man accused of killing three people -- including a police officer -- in a shooting at a Planned Parenthood clinic in Colorado Springs was monitored by security cameras as the dramatic standoff unfolded, an official said. After the suspected shooter, identified by Colorado Springs Police as…

    Good Morning America
  • University of Colorado Colorado Springs Plans Tribute to Officer Killed in Planned Parenthood Shooting

    The University of Colorado at Colorado Springs said today it would honor a campus police officer who was killed in a shooting at a Planned Parenthood clinic on Friday. Both the men's and women's basketball teams will observe a moment of silence in honor of Officer Garrett Swasey at their games…

    Good Morning America
  • Planned Parenthood Shooting Suspect Fired at Random, Witness Says

    A woman who was caught in the crossfire during a shooting at a Planned Parenthood clinic in Colorado Springs Friday said the suspect fired at random. Ketanya Craion was in an exam room when the shooting began Friday morning. Three people were killed and nine others were injured before police…

    Good Morning America
  • 3 Killed in Colorado Springs Shooting, 9 Victims in Hospital

    Two civilians and one police officer were killed at the Planned Parenthood building in Colorado Springs, Colo., Friday. The gunman has been detained, according to the Colorado Springs police department, and nine individuals, including five police officers, have been wounded. Federal law…

    Good Morning America
  • Want Kitchen Islands at Low Cost?

    Get fabulous savings on a huge selection of stylish kitchen islands. Compare great bargains and choose from various designs right here!

  • Family of Belgian Terror Suspect Insists He Didn't Help Paris Attackers

    The family of wanted Belgian terror suspect Mohamed Abrini insisted he was innocent of helping the Paris attackers in an exclusive interview with ABC News. It was not clear when he allegedly traveled to Syria.

    Good Morning America
  • How a Missouri Hospital Became Center of Alleged Stolen Baby Controversy

    Zella Jackson Price overflowed with joy as she hugged her daughter Diane Gilmore, whom she hadn't seen since her birth nearly fifty years ago. Gilmore thought her mother abandoned her after birth. Price claims that just hours after she gave birth at the hospital a nurse told her that Gilmore --…

    Good Morning America
  • Vending Carts for Cheap

    Save big on vending carts and more. Huge selection, huge deals. Compare the latest prices and see great bargains at Nextag!

  • Black Friday Gets Off to a Roaring Start

    With major retailers including Walmart, Target and Macy's opening on Thanksgiving, some eager shoppers were able to get a jump start on their holiday to-do lists. The Black Friday frenzy was in full force at Macy's flagship Herald Square location in New York City where an estimated 15,000 people…

    Good Morning America
  • Chilling New Surveillance Video Shows Moments Leading Up to Shooting of Tulane Med Student

    New surveillance video shows a clearer picture of the moments leading up to the shooting of 25-year-old Tulane medical student Peter Gold as he stepped in to help a woman who was being dragged by a man on a New Orleans street last Friday. Peter Gold is seen stopping his car in the middle of the…

    Good Morning America
  • What Facebook Is Doing For New Parents

    Facebook has made a policy change that gives four months of paid parental leave to new parents. The announcement comes just days after CEO Mark Zuckerberg said he would take two months of paternity leave when his daughter is born. "This expanded benefit primarily affects new fathers and people in…

    Good Morning America
  • How the Kardashians and Jenners Celebrated Thanksgiving

    For Thanksgiving, Kylie Jenner shared a sweet photo of her entire "blended family" that includes Caitlyn, Kris and Kendall Jenner; Kourtney Kardashian and Scott Disick; Kim and Kanye West, and all the little kids like Penelope and North.Read: Khloe Kardashian Opens Up About Lamar Odom, Relationship…

    Good Morning America
  • Possibility to make a few extra bucks

    If you like the idea of getting up to go to work, good for you. I rather sit and make my money.

    Paid SurveysSponsored
  • Man Trains His Dog to Catch a Lobster

    Alex Schulze found a way to make man’s best friend even better. The co-founder of Devoted to the Ocean, an online retailer that donates a portion of its profits to ocean conservation, taught his black Labrador dog to catch lobsters from the ocean floor. Schulze posted a video of his dog, Lila, in…

    Good Morning America
  • Zach Galligan Shares Details of 'Gremlins 3'

    "It's not going to be a reboot," he told the audience in London, who had come out for a special screening of "Gremlins," followed by questions for Galligan, according to the BBC. "It will not be a remake in any way, shape, or form.

    Good Morning America
  • Mariah Carey on Her New Children’s Christmas Book, Directorial Debut and Holidays

    Her hit song, “All I Want for Christmas is You” is a classic, and now she’s made it into a children’s book. ABC News’ Amy Robach sat down with the superstar to talk about the book, her directorial debut and the holidays in the Carey home. “’All I Want for Christmas is You’is one of the all-time…

    Good Morning America
  • Best Shopping Deals for Black Friday

    Black Friday is now a season. Planning your shopping is key to deal hunting.The good news is that online deals are almost as good as the in-store deals, with a few notable door-buster exceptions. Even more interesting is the adoption of mobile-based deals that retailers are offering to entice you…

    Good Morning America
  • Your Black Friday Guide to Store Hours and the Best Deals

    There will be no rest for serious Black Friday shoppers. Just as the turkey, mashed potatoes and pumpkin pie feasts begin to settle, some stores will open their doors on Thanksgiving, marking the start of the 2015 holiday shopping season. Walmart kicks off the holiday shopping season on…

    Good Morning America
  • White House Lawn Locked Down Over Fence Jumper

    The North Lawn of the White House went on lockdown after a man identified as Joseph Caputo jumped over the fence and was taken into custody, authorities said. “Today, at approximately 2:45 p.m., Joseph Caputo scaled over the north fence line of the White House Complex gaining access to the North…

    Good Morning America