18/07/2024

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Health Beat: A new treatment for spinal muscular atrophy | Health Beat

Health Beat: A new treatment for spinal muscular atrophy | Health Beat

Imagine your baby being born healthy and then within months, they can barely move their arms, legs, fingers, and toes.

Experts say this is what happens to infants born with spinal muscular atrophy, or SMA.

Now, there’s a new treatment.

Without early treatment, most babies with SMA will not live to see their second birthday. One medication was approved in 2016 but it involves a spinal tap every four months.

Now, experts say there’s an oral medication that kids can take every day instead.

When little Ryu was born in the Philippines, everything seemed perfect. That changed at eight weeks old.

“He’s losing the muscle strength on his legs,” described Ryu’s mother, Hazel Koizumi.

With limited access to genetic testing, it took months to figure out what was happening.

“It’s like you lose all your dreams,” continued Ryu’s father, John Koizumi.

John and Hazel decided to come to the states where new treatments could help save Ryu.

“Because the nerves aren’t speaking to the muscle, then the muscle becomes weak,” said Dr. Ann Tilton, child neurologist at LSU Health Science Center New Orleans.

SMA is caused by a defect in the survival motor neuron one gene.

“These genes allow the motor neuron to survive. So, if you don’t have that, then you lose the nerves. The most efficient one is called SMN1,” continued Dr. Tilton. “That’s what’s missing in spinal muscular atrophy.”

Now, the first FDA-approved oral medication to treat SMA, Evrysdi, can turn on the second SMN gene, making it more active.

Dr. Tilton can hardly believe what she’s seeing.

“It’s absolutely remarkable that they have developed a medication that can turn on a specific gene to alter the natural course of a disease. I mean, what a world, it’s just absolutely miraculous,” she added.

As for Ryu, his parents now have hope.

“He is showing a lot of progress already. Like, he started to, like, move his fingers a little,” Hazel described.

Nearly all U.S. states are now screening newborns for SMA, and given the progressive nature of the disease, early awareness and treatment are critical.