Altogether, there are multiple subtypes of spinal muscular atrophy (SMA), a rare genetic disorder causing muscle weakness and generation. Four months ago, Aniya Porter was born with type I, a severe form diagnosed at or soon after birth. Her parents were frightened. Of course, they wanted their daughter to be okay. So father Will and mother Hailey pursued treatment, an infusion called Zolgensma that doctors said would be Aniya’s best chance at preserving her muscle function and increasing her lifespan. But according to NBC 5, the family’s insurance – a Medicaid provider called Superior HealthPlan – told the family that it would not cover the treatment.
What came next was a big fight from Will and Hailey to ensure that their daughter received the help that she needed. Now, after four months of campaigning, the family won – Aniya received her Zolgensma treatment at the end of April 2022.
The Fight for Zolgensma
So what is this drug at the heart of this battle? According to Cure SMA, Zolgensma is an FDA-approved, one-time intravenous infusion:
for patients with all forms and types of SMA who are under 2 years of age at the time of dosing. Zolgensma is an SMN-enhancing therapy that works by replacing the function of the missing or nonworking SMN1 gene with a new, working copy of an SMN gene.
The FDA first approved Zolgensma in 2019, with a hefty cost of $2.1 million for the treatment. In providing a working SMN1 gene, Zolgensma works to stop motor neuron loss – and therefore halt disease progression.
At the time of the insurance denial, Will and Hailey noticed that Aniya’s condition was steadily worsening. Their daughter lost some of her reflexes; parts of her body began twitching or shaking. But since Aniya has “backup” SMN2 genes, some doctors stated that they did not think that she would have a severe illness. Rather, they said, the backup genes, alongside another therapy such as Spinraza, could help Aniya’s condition. Therefore, insurance denied the request.
In addition to receiving help from Eamon Kelly, a lawyer who has represented multiple families with SMA in similar situations, Will and Hailey received assistance from Maisie’s Army, volunteers and family members whose children have SMA.
After holding a hearing, the insurance company agreed to cover Zolgensma treatment for Aniya. Her family is now more hopeful for her future – and passionate about helping other families gain medication access.
About Spinal Muscular Atrophy (SMA)
As explained above, spinal muscular atrophy is a rare genetic disorder caused by SMN1 gene mutations. These mutations cause motor neuron death in the spinal cord and brainstem, which in turn cause muscle atrophy and weakness. Symptoms of SMA vary based on subtype. For example, those with SMA type 1 experience developmental delays, breathing and swallowing difficulties, and an inability to sit or support the head without assistance. Type 2 has a later diagnosis – 6 to 12 months – and are typically unable to stand or walk independently. Next, type 3 develops between early childhood and adolescence, and can cause progressive muscle weakness and difficulty walking. Finally, type 4 occurs after age 30 and include difficulty breathing, tremors, twitching, and mild muscle weakness.