NARRATOR
16-year-old Austin and his 13-year-old brother, Max, face a lot of challenges.
COACH
It should be 1, 2, go right here.
NARRATOR
For starters, there's mobility. Max can still get himself around, but Austin lost the ability to walk six years ago.
JENN MCNARY
I was pregnant with Max when I first started thinking that something was really wrong with Austin. He kept falling downstairs. And he was getting concussions. And then he broke his arm when he turned three, and I was like, something's wrong. He's really clumsy. How'd you get that?
AUSTIN
From my bed.
JENN MCNARY
From your bed? Did you fall off your bed?
AUSTIN
Yeah.
JENN MCNARY
The physical therapist watched him stand up and she says, we need to rule out muscular dystrophy, because that looks a lot like what they showed me for muscular dystrophy. What can you say?
AUSTIN
Hi.
NARRATOR
Tests confirmed the worst-- that both boys had the most severe form of muscular dystrophy, called Duchenne.
JENN MCNARY
In general, you start to get a diagnosis between three and five years old. And as they get older and as they use their muscles, they damage the muscle more and more every year.
AUSTIN
These are my braces.
JENN MCNARY
Some stop walking around eight, but most everyone stops walking at least by 12. Hey, bud.
AUSTIN
Hi.
JENN MCNARY
What's the matter?
AUSTIN
Well, my bus driver just kept talking and talking.
JENN MCNARY
Talking and talking. Right around that same time, they start having cardiac involvement. The heart's a muscle, too. By late teens, early 20s, these kids die from respiratory failure primarily.
COACH
Nice.
NARRATOR
In Duchenne, a defect in this gene results in the body's failure to make a critical muscle protein called dystrophin that strengthens and protects muscle fibers.
EDWARD KAYE
It's a little bit like the shock absorber on a car. You can go without the shock absorbers, but eventually, you'll completely destroy the car, because it's hitting on the frame. Same thing happens with the body.
NARRATOR
Because DMD is our largest known gene, a correct version won't fit in a viral delivery truck. So scientists developed a different strategy that doesn't target the gene itself. Making a protein begins with transcribing the gene sequence into a messenger molecule. If a gene has an error, so will that messenger. McNary learned about efforts to target this messenger at a meeting of parents and scientists.
JENN MCNARY
I have no science background whatsoever, and learning about oligonucleotides is not my idea of fun, so I happened to go to the bar afterwards, which is where all the researchers go and hang out with parents. And I met this really dynamic guy. And he pulls out a cocktail napkin--
NARRATOR
And drew her a picture. He showed her the way genes and their messengers come in sections. DMD has 79. In McNary's boys, one is missing.
JENN MCNARY
Your boys are missing number 52, and you see the pieces don't fit together correctly if you're missing 52, so-- boom-- they make no dystrophin.
NARRATOR
But, he told her, by hiding 51 on the messenger, 50 and 53 can join. That's exactly what a completely new type of drug does, allowing boys like Austin and Max to make a form of dystrophin. It's not perfect, but it's much better than none at all. Good?
EDWARD KAYE
If you have a shoelace that's broken, you can tie it back together again. It's a little shorter, but it still works.
NURSE
Chairs this time?
NARRATOR
For the last five years, Max has been enrolled in a clinical trial of one of the first such drugs.
NURSE
You want to scoot--
NARRATOR
Austin later joined a different study of the same drug.
NURSE
Where do you have your cream on at today?
NARRATOR
Every week, the boys receive an hour long infusion. McNary is convinced this experimental drug is helping her boys.
JENN MCNARY
Austin stopped walking at 10 and a half. Max, at 13 and a half, is able to walk throughout his entire day. Before he got on the trial, Max was falling all the time, all day long. And then about six months into the trial, he really wasn't falling at all. And to this day, he doesn't fall.
AUSTIN
Ready?
WOMAN
OK, everybody. Can you see it?
JENN MCNARY
Austin's seeing benefit in ways that we didn't think were possible.
interposing voices
WOMAN
You are most times.
AUSTIN
Jackass?
JENN MCNARY
He's able to retrieve dropped objects, feed himself, lift a drink.
AUSTIN
Polar bear.
WOMAN
Yes.
JENN MCNARY
He also feels better. That's something that's missed in the clinical trial measurements.
MAX
My turn.
interposing voices
AUSTIN
Well, that's what I guessed. All right, you got seven. I mean, the only down side is just getting a needle once a week, but I guess it's better than the alternative and losing strength and not being able to do what I can do right now.
EDWARD KAYE
20 years-- all I would do is make a diagnosis, and then people would die and I couldn't do anything. And now, we're actually able to make a diagnosis and tell a family, we think we can help your child. We can give them a better life.
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