FDA approves first at-home treatment for those struggling with Spinal Muscular Atrophy, local woman finds hope


BAKERSFIELD, Calif. (KGET) — Spinal Muscular Atrophy is a rare progressive neuromuscular disease that can be fatal. There are four types of SMA and until recently there was no treatment for the rare disease.

Now, patients living with SMA have some bubble gum flavored hope in a medicine bottle. For years after being diagnosed with Spinal Muscular Atrophy there was no treatment for 19-year-old Jaquelin Cabrera. Now her life is full of hope because the FDA has finally approved a treatment plan that works for her.

Cabrera was 3 years old when her parents first realized she wasn’t running and playing the same way other kids were.

“I remember being in PE when I was in Middle school and not being able to do what other kids would do like simple stuff like run the mile or do some squats,” said Jaquelin Cabrera, who has Type 3 SMA.

Unbeknownst to her, not only was the SMA causing her physical issues but emotionally it was taking a toll too.

“You know the bullies in high school would be like you fell, or you know, but at the end of the day, it’s just stuff you end up getting use to,” Cabrera said. “Especially at the age, I mean it was hard, but I mean its just memories, so, it’s fine.”

But it wasn’t fine, Cabrera started purposely missing school to avoid ‘mile days’ in PE and her parents started to take things more seriously.

“Like trying to do what they want you to do or comparing yourself to the other students that were there that could do what you couldn’t,” Cabrera said. “And it’s kind of simple things like that, it’s just running a mile, but it’s not just running a mile for me, it takes a lot more work for me than it does for everybody else.”

SMA is a genetic condition that causes weakness and atrophy in the muscles. And after years of doctor visits, hours on the road, and medical tests doctors were finally able to diagnose her, but that was only the beginning of what she calls the biggest battle of her young life.

“Okay I know what I have now, like how do we treat this, but it’s also like you have this but there’s also no treatment,” said Cabrera. “So, at that time, we were like, Dr. Shay was like there is some treatments coming we just have to wait a little bit.”

And wait she did. Cabrera waited 5 long years, until August of 2020 When the FDA approved Evrysdi as the first at-home treatment option for adults and children 2 months and older.

“Evrysdi came along and I was like oh yes, finally it gives me a sense of hope, it’s going to stop me from getting worse and hopefully helps me get better,” Said Cabrera. “And now I’ve been on Evrysdi for almost about 6 months straight. It’s been pretty good, I mean it tastes great it’s not like when you take it, it doesn’t taste bad. It tastes like bubble gum so that’s fine!”

Genentech, the creators of Evrysdi sent us a statement in regards to the success of Evrysdi:

-Dalia Moawad, MD, Head, Neuro Rare Disease, US Medical Affairs at Genentech

Cabrera says since she’s started her treatment, she’s been feeling stronger and is celebrating little accomplishments like making it up her front porch steps without any issues. She is now pursuing a Registered Nurse degree at Bakersfiled College.

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