CONKLIN, Mich. — A 17-month-old girl in Coopersville has received a $2.1 million drug that was recently approved by the Food and Drug Administration.
Sienna Holtvluwer was diagnosed with spinal muscular atrophy, also known as SMA. The condition is a rare genetic disease that leads to progressive muscle weakness and can lead to paralysis. According to doctors, it is the leading genetic cause of deaths in infants.
SMA is caused by the lack of SMN1 gene, which is responsible for producing a protein needed for bodily function. In its worst state, it can cause difficulty breathing, swallowing and basic movement.
Because it is a genetic disorder, both parents must be carriers for a child to be diagnosed. If both parents are carriers, their child has a 25% chance of getting the disease. About 1 in 40 people carry the recessive gene.
Sienna first started showing symptoms of SMA when she had trouble breathing and proved to much weaker than most children her age. Sienna's parents, Emily and Shayn Holtvluwer, also noticed that she had trouble rolling on her side and was oddly quiet for a newborn. Shortly afterwards, Sienna ended up in the hospital because she had trouble breathing.
Shorty after diagnosis, Sienna began taking the available SMA-drug on the market, known as Spinraza. The treatment is typically given to SMA patients through a needle in the spine and administered once every 4-months. Sienna had about 6 rounds of Spinraza. Each dose cost $125,000. In Sienna's case, it was covered by insurance.
In May, the FDA approved an alternative treatment called Zolgensma. Unlike previous treatments, Zolgensma is only administered once. It costs $2.1 million, making it the most expensive drug ever approved by the FDA. It is the only treatment that actually replaces the gene SMA patients are missing.
According to a spokesperson for AveXis, the drug's manufacturer and parent company, "Zolgensma is designed to target the genetic root cause of SMA by replacing the function of the missing or nonworking SMN1 gene. It is administered as a single,one-time intravenous infusion."
Sienna became the second patient at Helen DeVos Children's Hospital to receive Zolgensma since FDA approval in May. The gene therapy was given to the 17-month-old the day before Thanksgiving.
The treatment came after two insurance denials from their primary provider, over the course of a month and a half. Medicaid instead paid for the treatment and approved it two days after the family submitted for the coverage.
"I probably cried," said Emily Holtvluwer, Sienna's mom when she learned her daughter's treatment would be covered. "I know that a couple of our family members did when I called them. It’s just a big relief."
The Holtvluwers learned through a genetic test that their unborn son, due in January, also has the same condition. They will continue to fight for their son to also receive Zolgensma.
"Yes, there is treatment now, which is awesome," said Emily Holtvluwer. "But it's like getting it on time, It's just a lot more worrisome now."
Doctors have told the Holtvluwers that if their son can receive Zolgensma in the first few weeks of birth before he shows symptoms of the disease, the gene therapy may give him a chance at a normal life without medical equipment. To a stranger, he may not show any signs of SMA if the treatment works effectively.
"It would be a total lifestyle change," said Emily Holtvluwer. "Not having to worry about double the medical issues and just, knowing he won’t struggle like she did or is [right now]."
The family plans to submit the insurance paperwork as soon as their son is born, in hopes of giving him the best possible medical outcome.
FOX 17 reached out to AveXis to ask why the treatment is so expensive. They provided this response:
"Zolgensma® (onasemnogene abeparvovec-xioi) is a gene therapy approved on May 24th, 2019 by the FDA for the treatment of children less than two years old with all types of SMA, a rare and devastating genetic disease. It is designed to target the genetic root cause of SMA by replacing the function of the missing or nonworking survival motor neuron 1 (SMN1) gene. As a single, one-time intravenous (IV) infusion designed to provide long-term benefit, Zolgensma’s price reflects the long-term value it brings to SMA patients, families and the healthcare system. The gene therapy is priced at approximately 50% less than the current 10-year cost of chronic SMA therapy."