Every Day With SMA

Navigating life with SMA

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Every Day With SMA

Navigating life with SMA

Learn about the importance of early treatment for SMA


Edan and Shane, who were diagnosed with SMA, with their families

In spinal muscular atrophy (SMA), time is neurons. As time passes without treatment, a child with SMA becomes weaker and weaker. Two parents, Rory and Regina, understand quite intimately the urgency to treat immediately because both of their families have a child who was born with SMA. They know the importance of newborn screening and how it can make a huge impact on the course of the disease in children with SMA now that FDA-approved treatments are available.

Catching SMA quickly with a test

“Our only child, Edan, was born in Minnesota in 2018. We had decided to wait to have children until we moved away from North Dakota,” shares Rory. “Little did we know how important that decision would become for our future family.” At the time of Edan’s birth, everything went smoothly. But 5 days later, they received a surprising and devastating phone call––Edan’s newborn screening revealed he may have SMA and needed additional testing.

“Thanks to our move from North Dakota to Minnesota, Edan’s SMA was caught quickly and led to his early treatment,” says Rory. Unlike North Dakota, Minnesota screens for SMA as part of its newborn screening panel and that’s why Edan’s SMA was detected. Shortly after receiving the diagnosis, when he was only 2 weeks old, Edan was started on an FDA-approved SMA treatment. Edan continued on that treatment until he was about 3 months old, which is when he qualified to receive ZOLGENSMA® (onasemnogene abeparvovec-xioi) prior to its FDA-approval in 2019 through the Novartis Gene Therapies US Managed Access Program.* Since receiving ZOLGENSMA, Edan has not continued with any other SMA treatment.

Please see the Indication and Important Safety Information below and the accompanying Full Prescribing Information.

“Our experience with Edan is different from a lot of families who didn’t receive newborn screening,” says Rory sympathetically. “We feel so fortunate to live in a state where newborn screening has been adopted and implemented.” Rory’s wife, Carolyn, was involved in advocating for SMA to be added to the newborn screening panel in Wisconsin, where Edan received ZOLGENSMA. Carolyn met with the governor and has seen her efforts pay off with the news that Wisconsin has implemented SMA into their newborn screening panel as of June 2020.

“Our number one motivation is to see newborn screening for SMA in all 50 states.”

Rory, father of Edan who was diagnosed with SMA


*The Managed Access Program is intended to provide access to ZOLGENSMA when patients are ineligible for clinical studies or when it is not yet approved in their country. At the time of diagnosis, ZOLGENSMA was not yet FDA-approved and Edan was ineligible for participation in clinical studies.

Advocating to help save lives

Regina’s experience with newborn screening took a different path. Her son, Shane, was diagnosed with SMA Type 2 in 2018 when he was 10 months old. Her family lives in New Jersey, where SMA was not part of newborn screening at the time of Shane’s birth. “Shane was around 6 months old when we noticed him moving less and his strength slowly disappearing,” recalls Regina. “We were told that every baby is different and some just progress slower. At about 10 months old, Shane rapidly declined and couldn’t even move his legs.” Through a recommendation from their neurologist, they went to see a neuromuscular specialist. This specialist recognized signs of SMA and, shortly after, diagnosed Shane with SMA Type 2. At the time of diagnosis, there was only one FDA-approved treatment. Shane was given that treatment less than 2 weeks after diagnosis at about 10 months old. When ZOLGENSMA was approved by the FDA about 5 months later, Regina and her husband, with the help from their doctor, decided that ZOLGENSMA was the right treatment for Shane, and he was dosed with it in 2019 when he was about 1½ years old. Since receiving ZOLGENSMA, Shane has not continued with any other SMA treatment.

“I feel like we wouldn’t have these treatments now if we didn’t have other mothers, fathers, and families fighting––even if it was too late for their own kids.”

Regina, mother of Shane who was diagnosed with SMA Type 2


Shane, who was diagnosed with SMA Type 2, with his parents

“I remember walking around crying after the diagnosis,” says Regina. “But I figured that wasn’t helping anyone, so I’d better do something.” With a newfound sense of determination, Regina jumped into action. As an attorney by trade, Regina knew how to read the newborn screening statutes in New Jersey. “I can lobby people, argue effectively, and try to convince government officials to do the right thing about adding SMA to the newborn screening panel. I have connections, thankfully,” laughs Regina. “I wasn’t able to control what happened to Shane, but I was able to control what would happen to babies born with SMA going forward in New Jersey.” Through Regina’s hard work and dedication, SMA was added to the New Jersey newborn screening panel, and the bill was passed in January 2020. “I never want another family to go through what we did. This bill will help change lives so children can get treatments early.”

It’s through the efforts of families like Rory’s and Regina’s that awareness and action can help children get diagnosed early and give them the chance to receive treatments early. If you would like to know if SMA is part of your state's newborn screening panel or how to become an advocate for adding it, please visit CureSMA.org to learn more.

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

A photo collection of Evelyn and her sister Josephine

SMA then and now

Hear from a family about losing their first child because there was no SMA treatment at the time and what having treatments now means to them for their second child.

Malachi, who was diagnosed with SMA Type 1, in a gait trainer

Advocacy doesn’t stop after treatment

Even though a child receives treatment for his or her SMA, it doesn’t mean their care stops. Hear from SMA caregivers about how they learned to be strong advocates for their children in the years following treatment.

Make every day count

Get tips and ideas from caregivers about establishing daily routines, finding fun activities, staying connected with others, and more.

Check out tips for daily life

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.

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 whites 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 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 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.

Indication

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.

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 Novartis Gene Therapies, Inc. at 833-828-3947.

Please see the Full Prescribing Information.