Quinn’s story: Our experience with ZOLGENSMA

Quinn’s story

Hear from Annie and Joe, whose daughter, Quinn, was diagnosed with SMA Type 2 and was treated at 15 months old. See how proud Quinn is learning to do new skills at 2 years old in this video and hear from her parents about how hopeful they are for Quinn’s future.

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ANNIE: My daughter Quinn is 2 years old, and she was diagnosed with SMA Type 2.

ANNIE: The first signs that I noticed that something was wrong was probably around 7-8 months old.

ANNIE: I would put her in crawling position and she would just cry, and she wouldn’t go anywhere, and it was really hard for her to hold herself in that position on all fours with her head up.

JOE: We started to notice that her eating was becoming more laborious. It was harder for her to swallow. We had also noticed that she was having more difficulty sleeping.

ANNIE: When Quinn was 9 months old, we took her to the pediatrician, and we expressed some concern about her not bearing weight on her legs. And I held her up and showed him how she would not stand on her legs and how they would just buckle.

ANNIE: Our pediatrician submitted the paperwork to our insurance and requested that Quinn have this genetic test done. And then 2 weeks later we received the results that confirmed that she had SMA Type 2.

JOE: So I have friends from high school that have had kids with SMA and, as a result, I already had a familiarity with the disease.

ANNIE: Joe and I both knew time was of the essence and she needed to get treated immediately.

ANNIE: Once Quinn was diagnosed, her pediatrician referred us to the neuromuscular specialist.

JOE: When we went in to meet with our neuromuscular specialist, she did discuss with me the treatment options.

ANNIE: She was clear that ZOLGENSMA was the treatment that she wanted to treat Quinn with. The reason being, it would stop the progression of Quinn’s SMA and that it was a one-time infusion, as opposed to getting treatments every few months.

ANNIE: We saw videos of children who had been treated with ZOLGENSMA and were very encouraged by what we saw.

ANNIE: I also spoke with parents whose children had been treated with ZOLGENSMA and felt very confident through speaking with them and their experience.

JOE: We chose ZOLGENSMA because it addresses the genetic root cause of SMA to allow her to produce SMN protein with a one-time treatment.

ANNIE: Before Quinn was treated with ZOLGENSMA, she had to receive blood tests to establish baseline levels and an antibody blood test to make sure she qualified.

ANNIE: Once the insurance approved the treatment, I broke down in tears. I was so grateful. I will never forget that day. It was the best day of my life.

JOE: Quinn was treated with ZOLGENSMA in November of 2019 when she was 15 months old.

ANNIE: After Quinn received ZOLGENSMA, she would receive blood work every week and then eventually every 2 weeks. And in addition to the blood work that she was receiving, she took an oral steroid to manage her liver enzymes. And after about 4 months, her neuromuscular doctor weaned her off the steroid.

ANNIE: My expectations for ZOLGENSMA were that Quinn would quit declining. Although she may not be walking yet, she is standing with her leg braces, and she is sitting up for long periods of time and she’s able to walk her arms out to her tummy and walk herself back.

JOE: Every time she does something new or has a new skill that she develops, she gets so excited about it. I mean the first time that she stood on her own, she was just so proud of herself.

JOE: The thing about ZOLGENSMA, it has taken my fear and it’s replaced it with hope. I’m not afraid any more of what her life will be like. I’m full of hope for her.

ANNIE: It’s been an incredible journey to watch her every day to see her progress and then look at it over the long run to see where she’s come from the time of treatment until now.

JOE: As a dad, I have this vision in my mind of walking my daughter down the aisle on her wedding day. And I truly believe that will happen. And I believe it will happen because of ZOLGENSMA.

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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.
  • 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.
  • 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.

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.