Celebrating “Inchstones” in SMA
A mother’s perspective: How our family measures progress since treatment
About 2 weeks after Slade was born we started to notice that he appeared to be a bit floppy. Our pediatrician chalked it up to him being a calm baby and told us he’d eventually grow out of it. With my husband being a chiropractor and my background in early childhood development, we knew something was wrong–we could just feel it. We decided to get a second opinion, which eventually led us to a diagnosis of spinal muscular atrophy (SMA) Type 1 on June 7, 2019, when Slade was 5 months old. As you can imagine, the feeling of despair and shock washed over us as the doctor explained what the disease is. He told us that without treatment, Slade would likely die by 2 years old.
Knowing that time was of the essence, we jumped into action and researched our treatment options. We learned about 2 choices for treating SMA. One of those treatments, ZOLGENSMA® (onasemnogene abeparvovec-xioi), had just been FDA approved 2 weeks prior to Slade’s diagnosis. We felt so fortunate to have these options. After careful consideration and discussions with Slade’s doctor, we strongly felt that ZOLGENSMA was the best option for us. ZOLGENSMA is a gene therapy given one time only. The steps to starting treatment required some patience on our part. Slade needed to take several blood tests, including repeat tests, before qualifying for treatment. Every child is different but for us it was worth the effort.
On July 26, 2019, when Slade was almost 7 months old, he received ZOLGENSMA. It’s an IV infusion that took about 60 minutes, and he was asleep for about half of it (Slade is a power napper). As the treatment entered his little body, we had an overwhelming sense of hope that things were going to improve for him. We knew our little boy was a fighter!
Fast-forward 6 months and Slade is now 13 months old. While we’ve experienced challenges as a result of his SMA, we are grateful for the progress he’s made since receiving gene therapy. Each day we wake up to the sound of his cooing and laughter. Since treatment, we’ve seen an increase in his strength, he can extend his feet, and his swallowing has improved. He adores his big brother, Callan, and they love playing with toy cars, trucks, and trains together.
We like to focus on Slade’s “inchstones,” not milestones, because every little improvement is a huge win for him and is more than we ever expected.
Even though Slade’s gene therapy treatment has been life changing for our family and we’ve seen improvements, he will always have SMA. He uses a cough assist and suction machine to bring up secretions and keep his lungs clear. When Slade naps and sleeps at night, he uses a BiPAP machine to help him breathe easier. He recently received a G-tube to help increase his caloric intake and he’s been putting on weight. Speech, occupational, and physical therapies are also important parts of Slade’s weekly care. We go once a week for about an hour for each of these therapies. My husband and I are big believers in the importance of ongoing therapy to help Slade now and down the road.
Slade was recently fitted for a stander and medical stroller so that he can continue building strength and to help with proper body alignment. While he can sit up for a few hours without issue, he also gets support from a specially designed adaptive seat that allows him to sit up and be a part of our family while at the kitchen table, which is very important to us.
We are so grateful for everything Slade has accomplished on his journey over the past 6 months after treatment and look forward to celebrating more inchstones in the future.
Watch videos about other families’ experiences with ZOLGENSMA and learn how other children are doing after treatment.
Results and outcomes vary among children based on several factors, including how far their SMA symptoms progressed prior to receiving treatment.
Indication and Important Safety Information for ZOLGENSMA® (onasemnogene abeparvovec-xioi)
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 the vein. ZOLGENSMA was not evaluated in patients with advanced SMA.
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 a patient experiences unexpected bleeding or bruising.
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.
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 AveXis at 833-828-3947.
Please see the Full Prescribing Information.
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