"Money and regulatory agencies and manufacturing issues, those things all fall on deaf ears when you are talking to somebody who is trying to save their son,"


SAXTONS RIVER, Vt. -
Ten-year-old Max Leclaire has an infectious smile. He has
a lot to be happy about. He's being treated with a drug called eteplirsen which
his parents say is reversing the symptoms of Duchenne muscular dystrophy. Max
was diagnosed with the disorder at 3 months old.
Max's older brother, Austin, 13, has that same big smile,
despite being confined to a wheelchair. Austin also has the rare
muscle-deteriorating disease, which can be deadly. His symptoms have
progressed.
"Sometimes it's really hard because you can't do
everything everybody else can," Austin said.
"Of course watching each skill that he loses means that we
know he is one step closer to losing his fight. Um, it was rough when he lost
the ability to walk," mom Jenn Mcnary said.
The boys' mom says her family was preparing to have two
sons in wheelchairs until Max was accepted into the clinical trial for
eteplirsen at Nationwide Children's Hospital in Columbus, Ohio. He is one of 12
boys in the entire country taking part in the first-of-its-kind study. Austin
was not included because he did not meet certain criteria, including his
inability to walk.
"The way we explained it to Austin is that his brother is
doing this for you and if this drug works, we will make sure you get it, too,"
Jenn said.
Max is involved in a blind trial, meaning some of the kids
were given the drug and some were not. Max's family says they know he's getting
a dose given his remarkable success.
"Week 16 Max opened a milk carton at the airport and my
husband called me and said, 'Oh my God, he is on the drug,'" Jenn said.
"Boys with Duchenne don't get better. So it was either the
weekly flying that was making him better or he was on the drug and it worked,"
said Craig Mcnary, the boys' stepfather.
And just like that, a situation which once seemed
impossible turned around.
"This small drug company has taken a chance to go ahead
and produce this drug and now there is a hope," Craig said.
But excitement did not last. When the official positive
results were released, the family immediately petitioned the drug company,
Sarepta Therapeutics, to get Austin on it as well. So far, they have been
denied.
In a series of emails to the family, Sarepta's chief
medical officer explained "... it involves complex regulatory, political,
manufacturing, and fiscal issues that need to be addressed before a
compassionate access program can be developed."
"Money and regulatory agencies and manufacturing issues,
those things all fall on deaf ears when you are talking to somebody who is
trying to save their son," Jenn said.
"It is frustrating to be at a point where you can see
these drugs and you can see they can work and then there are these roadblocks
that just shouldn't be there," Craig said.
Emails from the company go on to say "... we will continue
to do everything possible to make the drug available to Austin and other boys
like him as soon as feasible."
"No, I'm not mad at anyone," Jenn said. "What I am is
insistent that the urgency of this matter get taken care of."
And they are hoping by sharing their story they can either
speed up the FDA approval process or get Austin-- and other boys like him--
accepted into a new trial with a drug they say is safe and effective.
"We can't have one son who has had his life saved and is
the first kid to survive this disease, while we have our other kid at home who
is going to be the last kid to die from it," Jenn said.
But this feisty 13-year-old says he's up for the fight of
his life. "This is my chance to tell people that I should have the drug," Austin
said.
After Tuesday's treatment at the hospital, Max popped out
of his chair and ran down the hall. Austin is not far behind. And there's still
hope one day he'll be running instead of rolling.
"I have more of a chance to be able to walk again," Austin
said.
WCAX News contacted the drug company directly for comment
however we had not heard back when this story was published.
The trial is being funded in large part through the
organization called Cure Duchenne. Click here for more