Aniya’s story: how SMN2 backup copy number delayed early treatment

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When Aniya was diagnosed with spinal muscular atrophy (SMA), her parents, Hailey and Will, quickly learned that early treatment was essential. It was the only way to stop their baby from losing irreplaceable motor neurons that help the muscles work properly, which would help Aniya avoid disability later in life. So, when Hailey and Will received a letter from Aniya’s insurance company informing them that coverage for their daughter’s SMA treatment was denied, fear for their newborn armed them for battle.  


Aniya's family


In SMA, every day matters

Aniya’s diagnosis arrived with a phone call from her pediatrician in December, 7 days after she was born. Results from her newborn screening panel were positive for SMA. Shocked, devastated, and desperate for information, Hailey and Will were referred to a specialist. Another week passed before they were able to meet virtually.


Anya's story quote


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 to do. While the SMN2 backup gene provides some SMN protein, it’s not enough to completely stop disease progression.

Aniya has 4 copies of the SMN2 backup gene, which can indicate a milder disease. But even with 4 copies, Hailey and Will knew that Aniya would be losing motor neurons. And once motor neurons are gone, they are gone for good. After talking to their care team about treatment options, they had hope at last. They agreed to pursue ZOLGENSMA® (onasemnogene abeparvovec-xioi), the only one-time treatment for SMA that replaces the function of the SMN1 gene.

ZOLGENSMA is a prescription gene therapy used to treat children less than 2 years old with SMA. ZOLGENSMA has a risk of acute serious liver injury and acute liver failure, and in clinical trials the most common side effects were elevated liver enzymes and vomiting. Please keep reading for additional Important Safety Information and please see the Full Prescribing Information.


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Hope for Aniya

Their insurance company had a different perspective. They denied treatment because Aniya has 4 copies of the SMN2 backup gene and wasn’t yet 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 and Will appealed but were denied again.

Hailey worked closely with her Patient Resource Manager (PRM) and the OneGene Program® to manage the next steps. Their PRM was only a phone call away, providing support services that helped simplify the process as much as possible.

As weeks passed, Hailey watched in distress as her baby began to display telltale signs. Aniya wasn’t lifting her head as much as she should. She had tongue tremors. Then, her limbs stopped having reflexes. Hailey’s worst fears were becoming reality. Aniya could not afford to wait another day.

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 she had to be more than a mother to succeed; she had to be Aniya’s advocate. When friends asked how they could help, she always said 3 words: hope for Aniya.


Anya story quote 3


A lasting impact

In need of support and guidance, Hailey made valuable connections with SMA community members online. One caregiver in particular would soon change everything.

Ciji’s daughter, Maisie, received treatment with ZOLGENSMA in 2019 at 20 months old. Though insurance conflicts are not common, like Aniya, Maisie’s treatment was denied. Ciji started a social media campaign and established Maisie’s Army, a support group for families with SMA to access treatment. “Don’t worry,” she told her. “You got this.” The connection would prove pivotal.

Aniya’s case was presented in April 2021. Joined by Maisie’s Army and other members of the SMA community, Hailey and Will finally felt like they stood a real chance. And sure enough, 1 week after the hearing, Aniya’s treatment was approved.

Aniya received ZOLGENSMA on April 27, 2022, nearly 5 months after her diagnosis. Though her parents still wonder what those months may have cost their daughter, today, Aniya is meeting her milestones.


Anya's story quote 4


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

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

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.
  • 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. Contact the patient’s doctor immediately if you see 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 occur approximately one week after ZOLGENSMA infusion. Caregivers should 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 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, or Novartis Gene Therapies, Inc. at 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, Inc.

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