New drug beating the odds for kids with spinal muscular atrophy

Published: Mar. 1, 2017 at 3:22 PM EST
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Bringing home your baby from the hospital is usually a joyous occasion, but for one Elkhart family, it quickly turned devastating.

Shortly after baby Ella was born five years ago, her parents, Erica and Dan Hunt, were told their third child was born with a deadly neuro-muscular condition.

Refusing to accept defeat, the Hunts did all they could to extend Ella's life and make it wonderful for as long as they could. In December they received the best Christmas gift a family could hope for.

Now they are turning heartbreak into hope.

We first introduced you to Ella when she was turning five months old.

Her mom, Erica, calls it a milestone, saying, "Five years ago, we were told Ella was going to live six weeks."

Diagnosed with spinal muscular atrophy, or SMA Type 1, her body lacks a protein that allows her to create muscle, meaning she can't walk or talk, and her organs would eventually shut down. Her mind is perfectly normal, but she's been on a slow decline since birth.

Erica talks about the struggle and determination. "When you have a child who has a terminal illness and it equates her illness to stage 4 cancer, with no hope, and you see a drug that's doing incredible things and you just can't get access, it's absolutely torturous."

The drug Erica is talking about is called Spinraza by Biogen, and she says children who it was tested on had near miraculous results. "The children that are dosing right away are rolling, walking, miraculous things are happening. Many of them are orally eating and don't require respiratory support. They have muscle tone."

That's all Erica needed to hear. She and a group of other SMA parents made their way to Washington to testify before the FDA. "Our kids are dying, and we have to do everything to fight and advocate for them, and that's why we're here."

She says the 17 FDA members listened, and while the parents aren't taking credit for Spinraza's approval, they believe traveling with their children in tow helped the cause. In 90 days Spinraza was approved for SMA. Erica added, "The FDA wants to save these kids. It was really just a beautiful testimony of working with the government to create amazing results."

Ella started dosing in June at St. Louis Children's Hospital, with infusions into her spine. Getting the drug as an infant would have stopped the progression of losing her muscle tone and ability to smile, but that's not to say miraculous things aren't happening for Ella.

Ella can now bend her wrists and hold on to toys, things she could no longer do until Spinraza. Her heart rate has also slowed, and she is able to take much deeper breaths, meaning she doesn't always need to be hooked up to oxygen.

Erica says the changes were immediate. "Very rapidly, within a couple days we started to see changes in Ella's body. She's controlling her tongue, which she was never able to do, and so that affects everything from your swallow to your ability to vocalize. We're seeing independent leg movement, we're seeing way more movement in her hands. She's able to grip, she's actually able to hold toys, which is just amazing."

The drug that allows Ella to manipulate her wheelchair so that she can now play tag with her older brother, Noah, giving her the independence she didn't have before Spinraza.

She can also use her hands to turn on her iPad to listen to music or watch movies, and she even does her homework and them emails it off to her teachers.

It may seem like small steps to the rest of us, but the Hunts see all these changes and milestones. Would they have preferred Spinraza been approved earlier so Ella would have gotten more benefits? Of course, but they are thankful for the miracles they have and are looking forward to what's to come. Erica says, "I'm highly optimistic that she's got neurons in there that are partial, that are going to regenerate. I'm holding at that hope. And I think if we meet again in a year, I really truly believe that things are going to look different, and that's the hope that we have. We've always had hope that there could be more, and now there is more. And I often just think if this is all there is, she's ok with that."

"I said, 'Do you love your life? Do you love who you are?'" Erica recalls. "And she says, 'Yes, I love me.'"

The Hunts are, of course, thrilled Ella can get Spinraza infusions, because most SMA children cannot afford them.

Each infusion currently costs $125,000 a dose. Ella is able to get it because she is part of a study at St. Louis Children's Hospital researching the effects of Spinraza on older SMA children.

The hope is that once it becomes widely apparent that this drug works, insurance agencies will cover it so that no child goes untreated.

To learn more about spinal muscular atrophy, visit

For more information about Spinraza, visit