Be inspired by Aniya’s story.
Aniya’s parents have consented to share their story.
Today, Aniya is an energetic, determined, happy little girl—thanks to her parents’ perseverance to get their baby the treatment that she needed.
Hailey and Will got a call from Aniya’s pediatrician 7 days after she was born. Results from her newborn screening panel were positive for spinal muscular atrophy (SMA). Shocked, devastated, and desperate for information, they were referred to a neurologist.
Another week passed before they were able to meet virtually.
In the meantime, they did their own research and learned that SMA is caused by a missing or nonworking survival motor neuron 1 (SMN1) gene. The SMN1 gene produces an important protein that keeps motor neurons alive so they can communicate with the muscles. Without a working SMN1 gene, muscles become weak and activities like walking or breathing can become difficult. While the SMN2 backup gene provides some SMN protein, it’s not enough to completely stop disease progression.
“Her neurologist was always very clear to us—her 4 [SMN2] backup copies did not mean she did not need treatment.” – Hailey
The neurologist explained that Aniya has 4 copies of the SMN2 backup gene, which can indicate a milder disease. But Aniya needed treatment quickly because she was losing motor neurons that she’d never be able to regain—even if she wasn’t showing symptoms. Aniya’s parents and her doctor went through the treatment options together and they made a choice.
Hailey and Will had hope at last. They made an immediate decision to pursue ZOLGENSMA® (onasemnogene abeparvovec-xioi), a prescription gene therapy that is used to treat children less than 2 years old with SMA. It’s the only single-dose, one-time treatment for SMA that replaces the function of the SMN1 gene.
“Insurance denied ZOLGENSMA. My thoughts were just ‘how could this be?’” – Hailey
Their insurance company initially denied treatment because Aniya has 4 copies of the SMN2 backup gene and wasn’t showing severe enough signs of SMA—they didn’t see the urgency. As of 2020, SMA experts recommend immediate treatment for patients with 4 or fewer copies of the SMN2 backup gene.
Hailey worked closely with her Family Ambassador and the OneGene Program® to manage the next steps. Their Family Ambassador was only a phone call away, providing support services that helped simplify the journey as much as possible.
“It was very time-sensitive for her to receive treatment.” – Hailey
Hailey and Will were, understandably, shaken when Aniya began to have trouble lifting her head. She had decreased reflexes, and she displayed other signs of her SMA progressing.
Aniya couldn’t wait any longer for treatment. So, while Hailey and Will continued to fight for a one-time infusion—ZOLGENSMA—they put Aniya on another treatment, which was taken daily. They couldn’t sit back and watch their baby’s health decline.
“You’re her advocate. You’re her ambassador.” – Hailey
Hailey and Will scheduled a hearing with the insurance company to present Aniya’s health charts, doctor’s letters, clinical study information, and previous appeals. Hailey knew that she had to be more than a mother to succeed; she had to be Aniya’s advocate.
“She got approved! I was just so excited and happy, and crying all at the same time.” – Will
Days later, when she was 5 months old, Aniya stopped taking her other SMA treatment, and she received ZOLGENSMA.
Children treated with ZOLGENSMA need to receive an oral corticosteroid starting the day before infusion, and then after infusion for about two months or longer depending on their liver function exams and labs. Children treated with ZOLGENSMA also need baseline labs and then need to return for blood tests weekly, bi-weekly, and then monthly for at least the first three months after treatment.
ZOLGENSMA can increase liver enzyme levels and cause acute serious liver injury or acute liver failure which could result in death. In clinical trials, the most common side effects were elevated liver enzymes and vomiting. Please see additional Important Safety Information at the end of this article and Full Prescribing Information.
Today at age 2, Aniya is walking, dancing, climbing, and chattering away. Just like, well, a 2-year-old girl.
But, that’s not all that she’s accomplished.
“What’s great about our little girl’s story is that it’s helped change our insurance company’s policy when it comes to coverage for ZOLGENSMA.” – Hailey
Because of Aniya’s battle, their family’s insurance company changed its policy regarding the number of SMN2 backup gene copies and insurance approval.
For babies with SMA, early treatment can make a difference. Ask your doctor about ZOLGENSMA or learn more by exploring resources for SMA caregivers.
Results and outcomes vary among children based on several factors, including how far their SMA symptoms progressed prior to receiving treatment.
To learn more, visit ZOLGENSMA.com.
Need insurance assistance? The OneGene Program® offers personalized services to help you navigate the next steps. Get connected by calling 855-441-GENE (4363) today.
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 a vein. ZOLGENSMA was not evaluated in patients with advanced SMA.
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.
• There is a theoretical risk of tumor development with gene therapies such as ZOLGENSMA. Contact the patient’s doctor and Novartis Gene Therapies, Inc. (1-833-828-3947) if a tumor develops.
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.
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 1-833-828-3947.
Please see the Full Prescribing Information.
The preceding article is content provided by our sponsor, Novartis Gene Therapies, Inc. The views and opinions expressed in the content above are not the views and opinions of SMA News Today or its parent company, Bionews Services, LLC.
SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
© 2023 Novartis Gene Therapies, Inc.
Bannockburn, IL 60015
10/2023 US-ZOL-23-0051 V2
