New treatment for heartbreaking disease

Imagine your baby is born healthy, and then within months, they start to lose the ability to move their arms, legs, fingers and toes.

This is what happens to infants born with spinal muscular atrophy (SMA). Without early treatment, most babies will not live to see their second birthday, but now, there’s new hope that medication that can be given at home will stop this disease in its tracks.

When little Ryu was born in the Philippines, everything seemed perfect, but then, at 8 weeks old, he began to lose the muscle in his legs.

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

Diagnosed with SMA, his parents, John and Hazel, decided to come to the United States, where new treatments could help save Ryu.

“Because the nerves aren’t speaking to the muscle, then the muscle becomes weak,” said LSU neurologist Ann Tilton.

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 SMN 1. That’s what’s missing in spinal muscular atrophy,” Tilton said.

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

As for Ryu, his parents now have hope.

“He is showing a lot of progress already. He started to move his fingers a little,” Hazel said.

Another medication was approved for SMA in 2016, but it involves a spinal tap every four months. Evrysdi is the first and only oral medication approved by the FDA.