Living With SMA: One Family’s Journey

After both their sons were diagnosed with the same rare disease, the Cook family reflects on their journey, and how they found hope again.
save article
profile picture of Anna Davies
By Anna Davies, Contributing Writer
Updated February 2, 2023
Cook family portait

Amanda Cook couldn’t shake the feeling that something was wrong with her infant son, Jackson. When she put him in his car seat, she noticed he would go limp, rather than fight or buck against the straps the way her friends’ infants did. He also got sick a lot, often heading to the pediatrician for colds, croup and sinus infections. At each appointment, the doctor said the same thing: Jackson was fine. Maybe he was a bit of a “lazy baby,” but he’d catch up to his peers eventually.

But that wasn’t the case. What neither the Cook family nor their pediatrician knew was that Jackson had spinal muscular atrophy (SMA), a rare neurodegenerative disease characterized by the lack of a functional survival motor neuron 1 (SMN1) gene—the gene responsible for creating the majority of functional SMN protein that is needed by motor neurons, the cells that help the body move. If both parents are carriers of SMA, there is a 25 percent chance of the baby having SMA. About 1 in 54 people are carriers of the gene that causes SMA.

“There is a backup gene that makes SMN protein—the survival motor neuron 2 (SMN2) gene—but only about 10 percent of the SMN protein produced by the SMN2 gene is functional, and for patients with SMA, their motor neurons start to die. Once these motor neurons die, they can’t be replaced or regenerated,” explains Nicole LaMarca, Global Medical Director at Novartis Gene Therapies. The most common signs are low muscle tone, labored breathing, poor head control and difficulty swallowing. “Because SMA is so rare, many clinicians may not initially recognize the early signs or they might misattribute them to typical developmental delays, telling parents to ‘wait and see’ how things progress. This can lead to misdiagnosis and treatment delays,” she says.

When pneumonia landed Jackson in the hospital at six months old, his mother knew something was really wrong. After a battery of blood tests, Jackson was finally diagnosed with SMA Type 1, one of the most severe types. SMA Type 1 leads to progressive muscle weakness, and if left untreated, results in permanent ventilation or death in 90 percent of cases by age two. At the time, there were no treatment options available. Jackson passed away from complications a few days later. “The world shut down, pretty much,” Amanda says.

Navigating a new world

After Jackson passed away, the Cooks’ lives darkened. They knew they wanted more children, but they also knew that no one could fill the hole Jackson left in their hearts. The Cooks vowed that Jackson’s legacy would be to raise awareness for SMA—not just for their family, but for everyone they met.

Roughly two years later, Amanda’s second child, Kaylee, was born. She immediately received a blood test and was found to be SMA negative. During her third pregnancy in 2020, Amanda had an amniocentesis test done and discovered her child would have SMA. “It’s cliché, but I just knew that he would be identical to Jackson. But still, when I actually got the results, I was floored. I was upset. I was mad. I felt almost every emotion and cried myself to sleep.” The next morning, Amanda woke up determined. “I realized, ‘I need to do something. I’ve got to fight for my child,’” she recalls.

Amanda kept tabs on SMA treatments since Jackson’s passing, and the more she researched, the more she noticed the incredible progress made in the past several years. Now families facing an SMA diagnosis had treatment options—something that wasn’t available when Jackson was diagnosed.

As she dug deeper, she began zeroing in on a treatment called ZOLGENSMA® (onasemnogene abeparvovec-xioi), a gene therapy infusion that replaces the function of the missing or non-working SMN1 gene. On the therapy’s website, Amanda saw children with SMA hitting milestones that Jackson was never able to reach. Some children were eating, others were sitting unassisted, and some were even walking and running. Amanda knew how quickly she would need to act to ensure her baby would have the best chance at achieving motor milestones. After discussing the available treatment options with the doctors, they agreed Zolgensma was a great option. Together, she and her unborn son’s healthcare team raced to help ensure he would receive treatment as soon as possible after birth.

Zolgensma, which was approved by the FDA in May 2019, is the only gene therapy for children under two years of age with SMA. It is the only one-time infusion SMA treatment designed to address the genetic root cause of the disease by replacing the function of the missing or non-working SMN1 gene with a single, one-time dose. Zolgensma can increase liver enzyme levels and cause acute serious liver injury or acute liver failure which could result in death. In clinical trials the most common side effects were elevated liver enzymes and vomiting. Please see additional Important Safety Information below and accompanying Full Prescribing Information. Children treated with Zolgensma need to receive an oral corticosteroid starting the day before infusion, and then daily after infusion for about two months or longer depending on their liver function exams and labs. Children treated with Zolgensma also need baseline labs and then need to return for blood tests weekly, bi-weekly and then monthly for at least the first three months after treatment.

Life with Zolgensma

Amanda’s son Weston was born via C-section in late March 2021, and at just 11 days old, he was treated with Zolgensma. Several hours later, the Cooks were discharged, their newest addition bundled up in his infant seat.

Right away, Weston took his role front and center in a happy, chaotic family life. At six weeks old, he began physical therapy sessions several times a week. His family also worked with him, doing exercises to help him strengthen his muscles; month by month, they saw him getting stronger. Now 18 months old, Weston is down to one physical therapy session a month, mainly just to check in.

“He’s doing phenomenally,” Amanda says. “He can walk. He can talk. He’s eating. Compared to Jackson, it’s night and day. And he’s so strong.”

What the Cooks want you to know today

Today, Amanda sees Jackson and Weston as her teachers as she continues to share her family’s story. And she’s already anticipating the day she’ll tell her youngest about his big brother. “I’ll tell him all about Jackson. And I imagine he’ll have a family someday and he will tell these stories as well.” But for now, Amanda encourages parents to know the signs of SMA and have their newborns tested, diagnosed and treated early. (As of this year, 98 percent of newborns are screened for SMA at birth in the U.S.)

“Weston allowed us to experience a different side of SMA and to teach other people about both of those sides, because it’s two different worlds,” says Amanda. “I would tell any family that today’s treatments are amazing. It has changed my outlook on SMA.”

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

Indication and Important Safety Information for ZOLGENSMA® (onasemnogene abeparvovec-xioi) suspension, for intravenous infusion:

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.

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

  • ZOLGENSMA can increase liver enzyme levels and cause acute serious liver injury or acute liver failure which could result in death.
  • 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 whites of the eyes appear yellowish, if the patient misses a dose of corticosteroid or vomits it up, or if the patient experiences a decrease in alertness.

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

  • Infections before or after ZOLGENSMA infusion can lead to more serious complications. Caregivers and close contacts with the patient should follow infection prevention procedures. Contact the patient’s doctor immediately if the patient experiences any signs of a possible 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 the patient experiences unexpected bleeding or bruising.
  • Thrombotic microangiopathy (TMA) has been reported to generally occur within the first two weeks after ZOLGENSMA infusion. Seek immediate medical attention if the patient experiences any signs or symptoms of TMA, such as unexpected bruising or bleeding, seizures, or decreased urine output.

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 influenza and respiratory syncytial virus (RSV) is recommended and vaccination status should be up-to-date prior to ZOLGENSMA administration. Please consult the patient’s doctor.

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 patient body waste for one 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, or Novartis Gene Therapies, Inc. at 833-828-3947.

©2023 Novartis Gene Therapies, Inc. Bannockburn, IL 60015

US-ZOL-22-0164 V2 03/2023

Please note: The Bump and the materials and information it contains are not intended to, and do not constitute, medical or other health advice or diagnosis and should not be used as such. You should always consult with a qualified physician or health professional about your specific circumstances.

©2023 XO Group Inc., 2 Wisconsin Cir. 3rd Floor, Chevy Chase, MD 20815

save article

Next on Your Reading List

Article removed.
Name added. View Your List