Our Daughter Has SMA—Here’s What We Want You to Know

How one family used gene therapy to change the trajectory of a rare, but devastating diagnosis.
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Contributing Writer
January 4, 2023
Patel family photo, Our Daughter Has SMA—Here's What We Want You to Know

On the playground, nearly four-year-old Ariya Patel is a whirlwind. With long black hair and a princess dress, Ariya can be found climbing rock structures or playing an elaborate game of pretend with her younger sister Ayva. To most, she looks like any other preschooler. To parents Mitul and Chelsey Patel, this is something they weren’t sure would be possible.

Just three years ago, the Patel family received a devastating diagnosis: Their firstborn child had spinal muscular atrophy (SMA), a neurodegenerative genetic disease that, when left untreated, gets more severe over time, leading to irreversible damage. Less than a decade ago, there were no treatments for SMA.

How it began

When Ariya was around seven months old, Mitul and Chelsey became concerned that she wasn’t crawling the way her peers were. “She could roll over, but she couldn’t bear any weight on her legs. When we held her up and supported her, she would pull her legs up in a frog-like position,” recalls Mitul. They brought their concerns to their pediatrician, who observed that Ariya had low muscle tone and recommended physical therapy.

“We kept being told, ‘She’ll come around, she’ll come around,’ and we believed it,” Mitul adds. “One person even said, ‘She’s just a lazy baby. She knows Mommy and Daddy will pick her up and take her where she wants to go, so she’s not trying to be mobile.’”

But that didn’t sound like Ariya at all. “She was interactive. She was observant. She was curious,” says Mitul. After a few months of physical therapy and minimal progress, the Patels’ pediatrician referred the family to a neurologist.

The diagnosis

Chelsey took Ariya to the appointment, where the neurologist said that he was ordering a blood test to check for SMA. “He told us not to Google the disease, but of course we did,” says Mitul.

“SMA is a rare and devastating genetic disease that, when left untreated, leads to progressive muscle weakness, paralysis, and in its most severe forms, permanent ventilation or death in 90 percent of cases by age two,” explains Nicole LaMarca, Global Medical Director at Novartis Gene Therapies. “The survival motor neuron 1 (SMN1) gene is responsible for creating the SMN protein needed by motor neurons, which are the cells that help us move. In patients with SMA, the SMN1 gene is missing or defective, so their bodies rely on a backup gene, called the survival motor neuron 2 (SMN2) gene, to make their SMN protein. Unfortunately, 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. When motor neurons die, we can’t replace them or get them back, which is why early diagnosis and treatment are critical.”

The Patels grew more and more concerned the more they read about SMA and its potential effects on their infant daughter. After a week of waiting, they went to the office to ask for results. “It was right there on paper,” says Mitul. “Ariya had SMA.”

Further tests revealed that Ariya has SMA Type 2. “In patients with untreated SMA Type 2, they are unable to walk and will require a wheelchair, and over 30 percent of patients with SMA Type 2 die by age 25,” LaMarca explains.

The family made a plan to go back to the neurologist the next day. But ahead of them was a sleepless night. As Mitul and Chelsey did research, the pair kept finding Zolgensma® (onasemnogene abeparvovec-xioi), one of only two SMA treatments that was FDA-approved at the time. Zolgensma is a gene therapy treatment that replaces the function of the missing or faulty SMN1 gene with a new, working gene that then continuously produces SMN protein. Inspired by the family videos they watched on, the Patels knew they wanted Ariya to receive this treatment.

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 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 has a risk of acute serious liver injury and acute liver failure, and 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 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.

SMA can be detected at birth through newborn screening, and it was added to the Recommended Uniform Screening Panel in 2018. It is currently being adopted on a state-by-state basis, with newborns in all but two states in the U.S. being screened. Early diagnosis and treatment of SMA is critical given the progressive nature of the disease. Without treatment, every day a baby with the disease is losing motor neurons they won’t get back. “Newborn screening is so critical to an early diagnosis since the early signs of SMA can be subtle and often go unseen by clinicians until there is irreversible damage,” explains LaMarca.

A lifesaving treatment

The next morning, the Patels began their journey to get Ariya treatment. They met with a neurologist who agreed that Ariya was a candidate for Zolgensma—and it was important that she receive the treatment as soon as possible.

The family was also facing another milestone: Chelsey was pregnant again. Ariya’s SMA diagnosis meant that Chelsey and Mitul were SMA carriers, and there was a possibility that their unborn child had it as well. “I was already more than 20 weeks pregnant, and a diagnosis wouldn’t change our decisions,” explains Chelsey. But that meant the couple would wait until their child was born for a blood test to determine whether their baby would test positive for the disease.

One month after Ariya’s diagnosis, she got her Zolgensma infusion. “We think of it as another birthday for Ariya,” says Mitul. Ariya was admitted to the hospital several days prior for testing before the infusion began. Once the treatment was complete and Ariya was discharged from the hospital, she would undergo physical therapy several times a week.

Small steps to a big future

When Ariya was discharged from the hospital, the family wasn’t sure what to expect. “We didn’t notice any differences immediately, but she wasn’t doing worse. And that, in itself, was awesome,” says Mitul.

Soon after Ariya’s infusion, her sister, Ayva, was born. A blood test revealed Ayva did not have SMA. “We were so grateful and happy,” says Chelsey. “I think in the back of my mind, I had a gut feeling that she wouldn’t have it, but you just don’t know until you have the test,” she says.

“Parents can also elect to go through genetic testing at any time to see if they are carriers. If both parents are carriers of SMA, there is a 25 percent chance of the baby having SMA. About 1 in 54 people are genetic carriers of SMA,” explains LaMarca.

After her Zolgensma infusion, Ariya took oral corticosteroids and underwent monitoring blood tests. The goal was for her to start physical therapy several times a week, but COVID-19 shutdowns threw a wrench in that plan. Instead, the Patels took matters into their own hands, turning everyday toddler activities into ad-hoc physical therapy sessions. And this was when they began noticing big changes.

“I would make her work for every single toy,” says Mitul. “Every time we were on the floor, we were playing, but it was physical therapy too.” One day before Mitul’s birthday, Ariya crawled for the first time. She was 15 months old. “It was proof that Zolgensma was working,” says Mitul.

Ariya reached milestones more slowly than her peers and still experiences some physical limitations today. “It’s harder for her to run to the playground; she can be slower than her friends,” says Chelsey. Still, the family says that her progress has surpassed their expectations.

“She can walk independently. She can climb stairs by herself. She’s an independent, happy girl,” explains Mitul. And with a sister just 13 months younger than her, Ariya has found herself motivated by Ayva. “Ayva was a miracle for Ariya too. She sees Ayva trying new things and she’s like, ‘I’m going to do it too,’” says Chelsey. Watching Ariya achieve all these milestones and grow into her personality is something the Patels celebrate.

What’s next for infants diagnosed with SMA

“Every patient with SMA is different and unique, but studies have shown that the earlier a patient is diagnosed and treated, the better the clinical outcome,” says LaMarca. “It’s great that almost every state is screening for SMA at birth.”

Today, the Patels are expecting a third child without the same fear of a potential SMA diagnosis. They continue to raise awareness of SMA in the hopes other parents whose children are diagnosed will have an easier journey. “It’s a terrible illness, but it’s not as daunting as it was even just a decade ago. The face of the disease has changed dramatically, even since Ariya was diagnosed just three years ago,” says Mitul. Now that there are multiple treatment options, including the one-time gene therapy Zolgensma, patients with SMA are reaching milestones that wouldn’t be possible without treatment. “We just hope that all these kids have continued progress and happiness.”

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:

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.
  • 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. Contact the patient’s doctor immediately if you see 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 occur approximately one week after ZOLGENSMA infusion. Caregivers should 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 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, or Novartis Gene Therapies, Inc. at 833-828-3947.

©2022 Novartis Gene Therapies, Inc. Bannockburn, IL 60015

US-ZOL-22-0158 12/2022

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.

©2022 XO Group Inc., 2 Wisconsin Cir. 3rd Floor, Chevy Chase, MD 20815

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