Stella’s story: Our experience with ZOLGENSMA

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.