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Why My Child's 'Small' Achievements Represent Big Possibilities for Families With Spinal Muscular Atrophy

This article is intended for U.S. residents only.

I’ll never forget the first time my daughter turned her head to look at me. I’m not ashamed to say I bawled. I’m sure all mothers are filled with pride and adoration when they first lock eyes with their beautiful baby – but my husband Jeremy and I hadn’t known if our daughter Stella would ever be able to do this.

You don’t give much thought to your child’s most basic movements, like moving a finger or lifting a foot, until they aren’t able to do them – which is something we learned in the first few weeks of Stella’s life. Now, though, Stella is starting to achieve these fundamental milestones, and I’m so grateful and incredibly proud of her.

We first discovered that there might be concern for Stella’s health while I was pregnant. I had a genetic screening test and discovered I am a carrier for three genetic conditions. One of them is spinal muscular atrophy (SMA), a devastating disease that leads to the irreversible loss of nerve cells called motor neurons, causing the muscles in the body to become weak and atrophied. Beyond having limited ability to move, babies with SMA may also lose the ability to eat or even breathe on their own. Without treatment, many with the most frequent and one of the most severe forms of the disease (SMA Type 1), won’t live to see their second birthday.

We felt reassured a few days after Stella was born, when a pediatrician tested her reflexes and stretched her limbs, and then reported that she was healthy. 

Just three weeks later, Stella developed a blocked tear duct, and my mom instincts told me we needed to take her to a different doctor. I was increasingly worried that Stella wasn’t moving as much as she had just after her birth, especially given my genetic test results. We went back to the doctor who had been with us in the hospital when Stella was born and had witnessed her movements after birth; he examined her and said, “You know, she does have a blocked tear duct, but that isn’t what I’m concerned about. Is she always this lazy?” I reminded him that I’m a carrier for SMA (although I didn’t fully understand what that meant) and then he recommended that we go to the hospital for further testing for Stella. After multiple tests, our neurologist delivered the heartbreaking news: our sweet baby has SMA Type 1. I asked the hardest question imaginable: “How much time do we have left with Stella?” The question itself was terrifying and one that no parent should ever have to have to ask.

Our neurologist said, “We’re not going to have that conversation.” He said that treatments are now available for SMA, including a gene therapy that had been approved by the U.S. Food and Drug Administration (FDA) just days after Stella was born. He explained that the therapy, Zolgensma® (onasemnogene abeparvovec-xioi), is a one-time treatment for children with SMA under 2 years of age. The treatment targets the root cause of their disease by replacing the function of the SMN1 gene, which is missing or not working in people with SMA. This means that, after treatment, the body is able to produce enough SMN protein and preserve the remaining motor neurons that are responsible for muscle movement. (Note: Zolgensma has not been evaluated as a treatment for patients with advanced SMA.)

A week later, after a few more tests, our neurologist confirmed that Stella was eligible for Zolgensma and we made our decision immediately. Two weeks later, at 5-and-a-half weeks old, she received the one-time only intravenous infusion.

We started seeing improvements about a month after treatment. One of the first things we noticed was that her cry got louder. “It’s like they turned the volume up on her!” we marveled. I’ll always remember being in the hospital with Stella, just a couple days after treatment, encouraging her to cry louder as a nurse walked in and probably thought we were the strangest parents ever. 

We also noticed that she was moving more. First it was a toe, then her ankle. We placed toys around her bassinet to grab her attention and encourage her to move her head. One day, Stella suddenly snapped her head back and looked at me while I was talking to her. And I started bawling. Any child’s “firsts” are moments that new parents cherish and remember forever – but this was a milestone that we didn’t think was possible. I will never forget it. Since then, we’ve experienced even more of these amazing moments – like the first time she grasped my finger and the first time she put her pacifier in her mouth by herself.

I encourage all parents to trust their gut instincts when they’re concerned about their child’s health or development. We are so grateful for our vigilant doctor who recognized that our baby girl had regressed in her first few weeks of life and then helped us quickly leap into action.  Given our experiences with Stella, Jeremy and I are now fierce advocates for newborn screening, which can help ensure an earlier diagnosis and increase the potential for earlier treatment. In the case of SMA Type 1 – which is a progressive disease – this means that it is crucial to pursue treatment as quickly as possible to save motor neurons before they are lost and can never be regained. 

Stella is now a year old, and we are so happy with how she’s doing. She’s made amazing progress, and can sit unassisted and stand and play with her toys with the help of a stander. We’ll support her as much as we can along the way and continue to be grateful for everything she is capable of.

I remember holding Stella when she was first diagnosed, feeling so angry because I saw an Instagram post from a mom complaining that her child pulled her hair. I thought, I just want Stella to pull my hair. I want her to be able to fight me and kick around when I put clothes on her. I didn’t know if that was something she’d ever be able to do. So the first time she grabbed and pulled my hair, I was so excited! I felt the same way when she first squirmed around while I was trying to cut her fingernails and the first time she kicked in the bathtub. These are moments that parents of healthy babies may not think twice about, but to me they represented huge steps forward for Stella and gave us hope for what’s possible in her future.

When Stella was first diagnosed, we turned to social media and online forums for information and resources. The support we’ve received from the SMA community has been so encouraging, and we’ve made it our mission to provide the same support to families who are navigating life with SMA. Jeremy and I started using our own social media accounts to stay connected with the SMA community and to document and share all of Stella’s daily victories, like pulling hair, crying or kicking, that are worth celebrating. I will always be thankful for every milestone she reaches — no matter how “small” it may seem – and I want to encourage other families, whether they’re affected by SMA or not, to celebrate these milestones too.

Results and outcomes vary among children based on several factors, including how far their SMA symptoms had progressed prior to receiving treatment.

What is Zolgensma?

Zolgensma is a prescription gene therapy used to treat children less than 2 years old with spinal muscular atrophy (SMA). Zolgensma is given as a one-time infusion into a vein. Zolgensma was not evaluated in patients with advanced SMA.

Important Safety Information

What is the most important information I should know about ZOLGENSMA?

  • ZOLGENSMA can cause acute serious liver injury. Liver enzymes could become elevated and may reflect acute serious liver injury in children who receive ZOLGENSMA.
  • Patients will receive an oral corticosteroid before and after infusion with ZOLGENSMA and will undergo regular blood tests to monitor liver function.
  • Contact the patient’s doctor immediately if the patient’s skin and/or white of the eyes appear yellowish, or if the patient misses a dose of the corticosteroid or vomits it up.

What should I watch for before and after the infusion with ZOLGENSMA?

  • Viral respiratory infections before or after ZOLGENSMA infusion can lead to more serious complications. Contact the patient’s doctor immediately if you see signs of a possible viral respiratory infection such as coughing, wheezing, sneezing, runny nose, sore throat, or fever.
  • Decreased platelet counts could occur following infusion with ZOLGENSMA. Seek immediate medical attention if a patient experiences unexpected bleeding or bruising.

What do I need to know about vaccinations and ZOLGENSMA?

  • Talk with the patient’s doctor to decide if adjustments to the vaccination schedule are needed to accommodate treatment with a corticosteroid.
  • Protection against respiratory syncytial virus (RSV) is recommended.

Do I need to take precautions with the patient’s bodily waste?

Temporarily, small amounts of ZOLGENSMA may be found in the patient’s stool. Use good hand hygiene when coming into direct contact with bodily waste for 1 month after infusion with ZOLGENSMA. Disposable diapers should be sealed in disposable trash bags and thrown out with regular trash.

What are the possible or likely side effects of ZOLGENSMA?

The most common side effects that occurred in patients treated with ZOLGENSMA were elevated liver enzymes and vomiting.

The safety information provided here is not comprehensive. Talk to the patient’s doctor about any side effects that bother the patient or that don’t go away,

You are encouraged to report suspected side effects by contacting the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch, or AveXis at 1-833-828-3971.

Please see the Full Prescribing Information.

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