Eli’s story: Our experience with ZOLGENSMA

Eli’s story

Natalie was in shock when her son, Eli, was diagnosed with SMA Type 1. Hear about the day Eli was treated with ZOLGENSMA when he was about 4 months old, and the exciting moment when Natalie realized treatment was working, and follow him over the years to see what he is up to as a 5-year-old in this video.

Read the transcript

NATALIE: My son Eli has SMA Type 1. The signs and symptoms of SMA for Eli, I think were present at birth. We just were not aware of what it was. The day that we brought him home from the hospital, I remember pullin’ over on the side of the road and having to pick his head up. And the morning that I called the physician’s office they said, “You know, just bring him in. Let’s check him out. Let’s kind of put this to rest.” So I did. I took him in and they said, “Yeah, we’re kinda on board with you. Something’s wrong.” My world stopped the day that we got diagnosed. I was scared.

JANICE: I was home one day and I was scrolling through, just typing in SMA support groups, and there was this one support group that told you to invite new members.

NATALIE: There was a listing for clinical trials. That was when we first heard of it. She asked me like 20 times, “Did you call ‘em, did you call ‘em, did you call ‘em?” I finally did talk to ‘em and they gave me this little tiny bit of hope, I was so excited. I’ll always remember the day that we chose ZOLGENSMA. My son Eli received treatment with ZOLGENSMA at approximately 4 months old. I think the very first time that I realized it was working, he sat up all by himself. I knew at that point my wish had been granted. He was gonna be able to hold his head up and see the world.

Eli does occupational therapy, physical therapy once a week. He actually does aquatic therapy, too. We hardly ever have any uneventful days. We eat breakfast. We play. We play a lot. He does what every other kid loves. The one thing I want people to know about ZOLGENSMA is, it changed my whole family’s life.

ELI: My name is Eli, and I’m 5 years old. When I grow up, I want to be a cooker.

NATALIE: I think from the time that we got the diagnosis of SMA up until this point, I find myself on occasions to having to pinch myself. Some things that he’s doing today, his head control’s gotten a lot better. His core strength is getting better. It gives him a little more independence. He can read. He can do math. He has an 8-year-old sister and he keeps her on her toes. So that’s been one of the biggest things that I’ve seen evolve. He’s growing up. And he’s becoming more aware of what’s going on around him.

Even though we received treatment with ZOLGENSMA, SMA continues to affect us every day. The weakness in his legs, I have seen gradually get stronger. I feel like it is a slow process. He cannot bear weight till this day. We’re still workin’ on it with physical therapy. We have good days and bad days. We still have things that we need to watch. Contractures. We still brace. We just take it a day at a time. And at the end of the day, we make sure our days are good.

I remember when we received the diagnosis of SMA, I had the fear of not ever potty training my child. And now he’s 110% potty trained. And I tell people, I said, “This is really crazy, but like, I bought every pack of underwear because they were so cute on him.” And so that’s, that’s a huge accomplishment for us. When I see Eli accomplishing things, learning new ways to do things on a daily basis, to be honest with you, it blows my mind. It really does. He has a strive for life that I have never ever seen in a child. He loves life.

Close the transcript

Watch more stories like Eli’s

Malachi’s story

Treated between 4-6 months

Tenley’s story

Treated between 4-6 months

See all videos

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.