Stella’s story: Our experience with ZOLGENSMA

Stella’s story

When Samantha and Jeremy’s daughter, Stella, was diagnosed with SMA Type 1, they were crushed by the news. However, learning about ZOLGENSMA gave them newfound hope, and Stella was treated at 1½ months old. See what Stella is doing at 1½ years old in this video and hear how grateful her parents are that Stella can make messes around the house.

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SAMANTHA: I found out that I was a carrier for SMA when I was 13 weeks pregnant. I had a carrier screening done at my doctor’s office and when we got the results, my husband, Jeremy, and I decided not to do further testing.

SAMANTHA: When Stella was around 3 weeks old, I just knew something was wrong. So we did end up going to our pediatrician that day and, by chance, we saw the pediatrician who Stella saw at birth.

SAMANTHA: And when he started doing reflex tests, this pediatrician immediately saw that something was different in Stella.

SAMANTHA: Something clicked in my brain and said, “I’m a carrier for spinal muscular atrophy.” And Jeremy’s sister was a carrier of SMA, so we knew that there could be a chance that Jeremy was, in fact, a carrier as well.

JEREMY: The very first time we actually met Stella’s neurologist, we had a conversation about treatment and treatment options pre-diagnosis.

SAMANTHA: Our neurologist had told us about 2 FDA-approved treatments. One she would have to receive numerous times.

JEREMY: And then the other option was a one-time dose that we were immediately drawn to because of the neurologist explaining the gene therapy.

SAMANTHA: When the genetic screening was done for Stella, our neurologist also tested Stella for the antibodies to see if she could or could not receive ZOLGENSMA.

JEREMY: The diagnosis itself came on June 18, that, indeed, Stella did have SMA Type 1. And at the same time, we were also given the news that she was eligible and able to receive ZOLGENSMA.

SAMANTHA: So here we are getting this terrible diagnosis that no parent ever wants, but then we’re being given so much hope that our daughter can get this treatment.

JEREMY: Talking to her doctor, we were talking about her being able to sit unassisted for hopefully a couple of seconds. Maybe being able to scoot in place and get herself around, propel herself around a little bit. And then at the same time being able to tell us honestly that he didn’t really know what to expect. I think that really kind of set and paved the path for us because we were able to be cautiously optimistic, but also realized that we really truly didn’t know what to expect in the future.

SAMANTHA: Jeremy and I were able to talk with another family who had lost their son 9 years ago to SMA Type 1. She said, “If we were given this opportunity, we would be in the car and we would be on our way down to the hospital.” And from there, that’s when we just knew that we’re doing the right thing for Stella.

SAMANTHA: The next day, we went into our neurologist’s office and as soon as he walked through the door with his team, we told him that we wanted ZOLGENSMA.

SAMANTHA: And we were connected with our patient advisor who has become a huge role in Stella’s journey to get ZOLGENSMA. She was giving us resources that we needed, answering any of the questions that we had, and communicated really well with our neurologist and his medical team.

JEREMEY: Stella’s SMA progressed from diagnosis to treatment in a way that it continued to rob her of her ability to move and breathe easy, and she had a fairly quiet cry.

SAMANTHA: You could barely hear her if she was next to you. She was that quiet.

SAMANTHA: On treatment day itself, I don’t think that I slept the night before. I was a ball of nerves.

SAMANTHA: I didn’t cry until we started infusion and when I looked up, there were all the nurses that were standing at our door in tears. And for them to be able to be a part of Stella’s treatment was so profound and it’ll always stick in my brain remembering all of those nurses’ faces as we started the infusion for Stella, knowing that this could be life-changing for her.

JEREMY: One of the very first things that we noticed after treatment with ZOLGENSMA was Stella was able to breathe easier and not only did she breathe easier, but her cry got louder.

SAMANTHA: I have a video of Stella in the bed where I’m encouraging her to cry.

SAMANTHA: To hear her scream and cry and be able to start moving––that’s something we haven’t seen.

JEREMY: At one and a half, Stella is able to be fiercely independent and get around the house on her own with her wheelchair and explore and learn new things every day.

JEREMY: Stella can sit unassisted for extended periods of time, which involves head control and trunk control. Stella is able to reach for her toys.

SAMANTHA: Stella can make all the messes her little heart desires.

SAMANTHA: And I’ll never, ever, ever be ungrateful for those messes because they mean so much more as a mom who didn’t know if I’d ever see my child tear apart my Tupperware drawer.

JEREMY: SMA is still very prevalent in Stella’s life. She isn’t able to bear much of any weight on her legs. She requires assistance with her cough assist, her suction machine to clear secretions.

SAMANTHA: She also sees an occupational therapist once a week and goes to physical therapy twice a week.

SAMANTHA: I hope that she continues to keep us on our toes. I hope I don’t regret saying that. But I hope that Stella grows up knowing how special she truly is and that she continues to overcome anything put in front of her.

EREMY: It is just crazy to see what she’s able to do compared to the outlook that we were faced with originally.

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Watch more stories like Stella’s

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.