Lucy’s story: Our experience with ZOLGENSMA

Lucy’s story

When Lucy’s SMA diagnosis came through newborn screening, her parents, Ashley and Steve, were shocked to find out they were both carriers of SMA. Discover how an early diagnosis helped shape Lucy’s treatment with ZOLGENSMA and see how she is doing at 1 year old.

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ASHLEY: I learned of Lucy’s SMA diagnosis through newborn screening. We’d never heard of SMA. We had no idea what SMA was, had no idea that we were both carriers.

STEVE: We had an appointment with a neurologist, where we learned what her diagnosis actually meant for her.

ASHLEY: At the appointment, they ran testing to confirm that she did indeed have SMA. She said that she only had 2 backup genes of SMN2, which historically went with Type 1. Lucy was 11 days old when she was diagnosed.

STEVE: We were told that without treatment, children diagnosed with SMA Type 1 typically won’t live past 2 years. But we were also receiving very good news that there were treatments that had been FDA approved, and that actually carried a lot of hope.

ASHLEY: Our neurologist told us about 2 treatments, and 1 of the 2 treatments was ZOLGENSMA. After doing a lot of research and contacting other families, we felt that that really was the avenue that we wanted to go down. Our doctor wanted Lucy to receive ZOLGENSMA because she saw very promising results. She said that it kind of halts the disease progression. She looked at Lucy and said, “This is the one that we need to pursue as soon as we can.” She said, “You know, right now Lucy had a lot of strength.” She still had a lot of vibrancy in her.

ASHLEY: Once we made the decision, we were assigned a resource manager. They kind of coached us through all this paperwork and all the tests that we actually had to have happen. There was bloodwork that was administered in order to make sure that she was a candidate and to establish her baseline levels. Lucy started taking the steroid a day prior to the infusion, as directed by the doctor. Going into infusion day, Lucy didn’t show any signs of SMA.

STEVE: Lucy received treatment with ZOLGENSMA when she was 38 days old. Treatment day was kind of more of a peaceful day, believe it or not.

ASHLEY: That morning that we arrived to the hospital, we just kind of knew that we could take a little bit of a breath and say, “Okay, we did it. We made it this far.” After treatment with ZOLGENSMA, she did have the elevated liver enzymes. They did do the bloodwork to track.

ASHLEY: Today, as a one-year-old, Lucy is able to breathe on her own. Lucy is able to sit in her high chair. She picks up her own drink. She’s crawling. She’s climbing all over the furniture. She loves to dance. She loves to laugh. She can stand with assistance. And she can even stand on her own now for a couple of seconds.

ASHLEY: We continue to work with our doctors and her medical team.

STEVE: Lucy does receive physical therapy every week. It’s important because it allows us to continually track her progression and make sure she’s continuing to meet her milestones.

ASHLEY: You know, for her to be treated so young, to meet so many of these milestones for us, you know, it exceeded anything that we ever could have expected.

STEVE: ZOLGENSMA gave Lucy a chance to live a life in defiance of her diagnosis, so that we could see her smile, we could see her meet her milestones—get to meet the person behind Lucy.

ASHLEY: One day I hope that we see adults, teenagers, and children, just all out living, you know, daily life. And, you know, there’s people out there in the community that have SMA that you wouldn’t even know were diagnosed.

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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.