The ‘Small’ Milestones I Treasure as the Parent of a Child With Spinal Muscular Atrophy

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

Every parent cherishes the many milestones associated with their child’s development, from their first smile, to their first steps, to their first birthday. But for parents of children with rare genetic diseases, who are often told their child may never meet any of those “typical” benchmarks, achievements like sitting up or lifting a hand feel like nothing short of a miracle. After watching my son Malachi reach his fourth birthday, defying a grim prognosis from doctors who told us he may not make it to his first, I’m certain that each and every milestone must be celebrated. I know I’ll never stop feeling grateful for each new skill my son learns or any goal he accomplishes — no matter how “small.”

When Malachi was born, he seemed like a typical healthy baby. But at 2 months old, I noticed he wasn’t maturing in the same way as I’d seen with my other children. He wasn’t lifting his arms and legs like he did just after birth. He would only twirl his hands and feet and he barely moved his head from side to side. As a mom to five other children, I knew what milestones to expect and was increasingly worried. I started asking my friends and family, “Does he look like he’s being lazy?” A lot of people told me not to worry and that he would get to rolling and moving his arms and legs more as he got older. But I just knew something wasn’t right. 

My husband and I took Malachi to his pediatrician, who referred him to the hospital for more testing after it became clear that Malachi had no reflexes. It took about 10 days to get the results, which were probably the worst 10 days of our lives. Finally, the doctor told us Malachi has spinal muscular atrophy (SMA, also called Werdnig-Hoffmann disease), a rare genetic disease that causes the rapid and irreversible loss of nerve cells called motor neurons. Without these motor neurons, muscles that control movement get progressively weaker. As the muscles weaken, the abilities to move, swallow and breathe are affected – this can be life-threatening. Malachi was diagnosed with SMA Type 1 – one of the most severe forms of this devastating disease and the leading genetic cause of infant death. When Malachi was diagnosed, there were no FDA-approved treatments for SMA.

When I heard the diagnosis, I asked, “How long do we have with him?” At first the doctor wouldn’t answer. But finally, she responded, “Approximately six to 12 months. Take your son home and love him.” I was stunned, but at that moment I told the doctor that our son would not be a statistic – he would be a miracle. I don’t know where that came from, because my heart was shattered. I wasn’t willing to give up. 

For the next two months, we worked with Malachi to keep him moving as much as possible. My husband quit his job to become a stay-at-home dad to Malachi and our five older kids. We took Malachi to physical therapy and occupational therapy and then would repeat the exercises at home to help him keep as much strength as he could. Still, the only thing he could really do was move his head from side to side and make circular motions with his hands and feet. He could not sit up or support himself at all without our help.

Everything changed on December 2, 2015, the day I now refer to as Malachi’s “second” birthday. On this day – after we spent weeks researching SMA treatment options and advocating for our son – Malachi received treatment as part of a clinical trial for a drug called Zolgensma® (onasemnogene abeparvovec-xioi), which is a one-time gene therapy that works by providing a new, working copy of SMN to replace the missing or mutated SMN1 gene. This allows the body to make enough of the SMN protein so surviving motor neurons can continue to survive and function. 

When Malachi was treated with Zolgensma, we didn’t know how quickly we’d see any changes, or if we would see any improvement at all. Each child is different and what works for one might not work for another. After treatment, he started to move his legs more than he had in the month before the treatment. He began to lift his feet off the ground on his own without any assistance, and he began trying to sit up on his own. The first time I saw him move in a way he hadn’t before, I cried. It was something I never thought I would see.

Today, at age 4, it’s amazing to see how far Malachi has come. Now he’s able to sit entirely on his own. He’s also feeding himself and rolling around in his wheelchair, which were big accomplishments because it took a while for him to gain enough arm strength to even lift his hands to his mouth. Standing with assistance is another huge milestone, which he loves to practice even though we’ve told him he can’t do it when we’re not in the room to help. Like any child his age, he doesn’t always listen.

We didn’t know what to expect with Zolgenmsa. We were hoping it would keep his SMA from getting any worse and preserve whatever abilities he had prior to treatment. But what we observed has been so much more than what we hoped for. As he exercises and attends physical therapy, Malachi has continued to improve and thrive. I still get emotional when he shows off new abilities. When you’re told your child will never be able to do certain things and then he defies the odds and does them, it’s impossible to take that for granted. For us, small things that parents of healthy children might not even notice, like lifting an arm, are cause for celebration every time. We document all of Malachi’s milestones. We don’t want to miss anything; he was almost taken from us by the disease, but we were blessed with the opportunity to watch Malachi continue to grow. Now we celebrate both his birthday and his “second” birthday each year. 

Today, Malachi is in preschool, playing with other kids, continuing to work on his movement, and giving us hope for what he might accomplish in the future. We treasure every moment with him, even the little things we never thought we’d be grateful for as parents, because we realize how lucky we are to have them. For example, anytime it rains outside, the first thing Malachi wants to do is go splash in the puddles. Of course, I can’t tell him no.

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 1-833-828-3947.

Please see the Full Prescribing Information.