Maisie’s story: Our experience with ZOLGENSMA

Maisie’s story

Hear from Ciji, whose daughter, Maisie, was diagnosed with SMA Type 1. Maisie was treated with ZOLGENSMA at about 20 months old and is 2 years old in this video. Hear about their journey to treatment, and what hearing “momma” for the first time means to Ciji.

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CIJI: My daughter Maisie has spinal muscular atrophy Type 1. I knew something wasn’t right with her. She wasn’t moving her legs. She would just lay there. She got weaker and weaker. And she eventually just quit eating. The doctors, as much as we were begging them, were not recognizing that there was a valid issue. And so we took Maisie to our physical therapist who we trusted and she encouraged us and helped advocate to get Maisie to Denver to seek additional testing.

LISA: We talked right away about how this might be something bigger, and so when she started having even more difficulties, when we said, “yeah, it’s probably time to get some more diagnostics.” And that’s when she went to Denver.

CIJI: We got to the hospital, the genetic counselor came in and she said, “just so you know, we’re testing for SMA.” Obviously, we weren’t sleeping very good. We spent hours researching SMA and what possibilities there were. When we received the diagnosis that Maisie had SMA, there were two options that we had found. One was FDA approved and the other was in clinical trials, and that was ZOLGENSMA. From the beginning, I wanted ZOLGENSMA. We learned that it was a gene therapy and that it was a one-time treatment. Maisie didn’t qualify for the clinical trial and so because we knew that she would continue to decline, we started the treatment that had been FDA-approved. The treatment I could see that it had definitely improved her in some of her areas. And then she continued on that treatment. And it got her to ZOLGENSMA, you know? It got her to the treatment date.

The FDA approval for ZOLGENSMA came May 24, 2019, exactly one year from my trip to Denver. Even though Maisie had received another treatment, we still wanted ZOLGENSMA because it’s one-time therapy, and we continued to fight for it and continued to advocate. I’ll always remember the day Maisie received ZOLGENSMA.

It’s five months post-dosing with ZOLGENSMA. Maisie is two years old. She grabs her toes now and she sticks ‘em in her mouth. She sits up and she only wants to sit up. And January 5, 2020, Maisie said, “Momma.” I just held her and loved her and was like, “Yay, you said, 'Momma.'” I wasn’t sure if I was ever gonna hear that. Even though Maisie’s received treatment, Maisie still has SMA. We start every day with CPT, or chest physical therapy. She still requires a lot of her machines. Her cough assist is only twice a day. It forces air into her lungs. And it expands her lungs. And then it sucks it out, like a strong cough. And then we suction. Maisie requires physical therapy three times a week. And then she also does speech therapy twice a week and occupational therapy. That’s not including the exercises and therapies we do at home. Maisie gets all of her nutrition through a feeding tube. However, we hope that someday she has the ability to eat, and we want her to be able to tolerate foods.

I expected ZOLGENSMA to stop the progression of the disease. Just halt it. And no more getting weaker. And I had hoped that someday she might sit up and be able to see the world we do. She’s laughing. She’s talking. And she’s hitting milestones that were once a dream. I think my little girl’s gonna do things that I never even pictured that she would do.

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Important Safety Information

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.

Important Safety Information

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.

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.