Evelyn’s story: Our experience with ZOLGENSMA

Evelyn’s story

Elena and Milan’s experience with SMA started even before their second daughter, Evelyn, was diagnosed with SMA Type 1. Hear about their incredible SMA journey from when Evelyn was treated with ZOLGENSMA at about 2 months old and follow her over the years to see what she is up to as a 4½-year-old in this video.

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ELENA: My daughter, Evelyn, has SMA Type 1. Her story starts before she was even born because we had a daughter who passed away from SMA. Her name is Josephine. When we find out that Josephine had SMA Type 1, we had no idea what the disease is. It was 2010. And we just lived one day at a time. Took one step at a time. And we saw the progression of disease from the beginning to the end until her last breath. She passed away at home and we sang her a lullaby until she took her last breath. But then, 2 years later, we find out we are pregnant again with Evelyn.

MILAN: We had her tested when she was born. The results came back a couple weeks later and it was positive for SMA. I read about the gene therapy that they were experimenting with. I found the email link to their administrator and I, I wrote her all about who we are and our story. I think a day or two later, I got a phone call and they asked if we were interested to fly up to Columbus, Ohio, to see if she was qualified.

ELENA: That’s the reason why she got the gene therapy so early and that was a key because the timing in this, in SMA is so crucial, because as long as you wait, there’s more strength the kid would lose. I will always remember the day when we choose one-time-only dose treatment of SMA. The infusion took about an hour. And in the end, everybody clapped. And we were, felt like there is a hope for us. We started to get excited. When we came home with Evelyn after the infusion I was just holding my breath. And, and waiting. And that’s the time when she started to lift her head when she was on her tummy. This is nothing less than a miracle for a SMA child, because I knew personally that kids with SMA Type 1, they do not lift their heads while they’re on their tummy. And Evelyn did.

MILAN: And so, my expectations after this, was give her every opportunity to move, to turn, to roll, to play, and it was just exciting. Every week was exciting.

ELENA: If you look at Evelyn, and you don’t know anything about her, you would never think that she has any problems. She does have weakness in her legs. She likes to play outside. She likes to ride her tricycle. She loves to draw. She loves to dance. She’s doing what she’s supposed to do, as a 3-year-old.

MILAN: Every day she does something that makes me laugh. Every day she’s doing something great. I love to see her swim. I love to see her go on her scooter.

ELENA: She’s just so independent right now. Like I can’t believe she grows so fast. She’s already potty trained, which is amazing. We never thought, you know, a simple thing like potty training, that will be possible for her.

EVELYN: My name is Evelyn and I’m 4½ years old. I like to play with my friends. When I grow up, I’m gonna ride horses and I want to wear my favorite boots and my hat.

MILAN: Evelyn is growing and changing every day. Every week. She’s learning things so fast.

ELENA: We decided to do home school this year. She’s at this wonderful time when she learns so much. We’ll also have like a co-op meetings once a week, so she is in the school setting with other kids. She loves it. She loves to make friends. And she loves to answer questions and do things at school. She’s getting better at a lot of things like jumping and even running. She can do monkey bars and she can pull herself up. If she goes up the stairs, I don’t need to worry about her, because she can pull herself up on the rail. The kids who treated with ZOLGENSMA, this is a new territory. Nobody knows what to expect and every kid is different, and has different challenges.

MILAN: Evelyn still has SMA. She was born with SMA and before she received treatment, SMA took a toll on her body. It did damage to her cells, to her nerves, and caused weakness in her glutes, in her hips, that she still suffers from today.

ELENA: I think the water therapies would be really good because they don’t put a lot of pressure on her bones and joints. And give her a lot of freedom to move around. She’s gonna start her swim classes, which is absolutely amazing. I’m so excited about her. She loves swimming and she’s like very confident in the water. About 5 months ago, we find out that we are expecting.

MILAN: She is SMA-free. We’re very excited. Very thankful. With Evelyn we didn’t think anything was gonna be possible to treat her. And we are extremely grateful for what we’ve been given with Evelyn. But having another baby, we were relieved to know that even if she did have SMA there is hope.

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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.


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.