A rare disease called Spinal Muscular Atrophy, or SMA, can be a death sentence for children.
It’s a genetic disease that impacts the central nervous system, so those affected lose the ability to control their muscles.
Although most children used to die before their second birthday, that is changing thanks to new treatment options.
Levi Hoot, 3, was born with SMA type 1. Just weeks before his diagnosis, the FDA approved an orphan drug called Spinraza. It is a spinal injection that changes the way DNA is spliced.
Levi got his first dose when he was four months old.
“In Lehman’s terms, what that means is this is the stuff of science fiction. It’s incredible that we can change the way that DNA is translated into protein to change the course of an illness,” said Nathan Hoot, Levi’s father.
Left untreated, SMA type 1 leads to total paralysis.
Instead, the Hoots have watched their son gain control of his muscles during his physical therapy sessions.
“His smile hasn’t gone away. A lot of these kids lose their ability to smile. I don’t take my own child’s smile for granted. That’s something not a lot of parents can say,” said Leah Hoot, his mother.
For Nathan Hoot, Emergency Medicine Physician at UTHealth, the rare disease has blurred the lines between physician and father.
He’s grateful for the research that led to the groundbreaking drug, but each dose of Spinraza carries a list price of $125,000.
Levi got six doses the first year. He’ll need three doses a year for the rest of his life.
The medication is covered by most insurance companies.
“I can’t say I’m comfortable with the price. Not even close, but it’s what we have to give him. If I didn’t do everything I could to advocate for him, what kind of dad or doctor would I be?” Hoot said.
Levi has gotten well over $1 million worth of injections.
Six months ago, the toddler was finally strong enough for a wheelchair, which he calls it his car ride.
“Typical kids with type 1 SMA are not able to communicate. He is a chatterbox. He wheels up to me and says, 'I love you,'” Leah Hoot said.
His progress, made possible by Spinraza and therapy received at TIRR Memorial Hermann, gives the whole family hope, which they say is just as meaningful as every new milestone.
“What this drug created is opportunity for a childhood. The drug doesn’t appear to be a cure at this point, it’s not allowing him to live a normal life, but it is allowing him to lead a life,” Levi’s dad said.
The FDA recently approved a second drug, called Zolgensma, to treat children with SMA.
It is a one-time gene replacement therapy treatment that costs over $2 million for a single dose.
Zolgensma is the most expensive medicine in the world.
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