COLUMBUS, Ohio — Donovan Weisgarber sits at the piano, slowly raising his tiny arms above his head before striking the keys as hard as he can.
“Again!” the 3-year-old exclaims.
His parents, Laura and Matt Weisgarber of the Northeast Side, delight in Donovan’s musical moment because they were once unsure how many moments like this they would have with their son.
Donovan was diagnosed with spinal muscular atrophy type 1 at Nationwide Children’s Hospital when he was 5 weeks old.
A progressive childhood neuromuscular disease, SMA type 1 is caused by a mutation in a single gene that attacks nerve cells. The disease can cause severe physical limitations, including the inability to breathe, swallow, talk or sit up. Children born with type-1 SMA typically die or require permanent breathing assistance by the time they turn 2 years old.
“Very quickly, he went from a healthy baby to really having no movement at all,” said Laura Weisgarber, 32.
Although Donovan was still able to wiggle his fingers and toes, he almost immediately lost his ability to swallow and was having difficulty breathing, she said.
After his diagnosis in November 2015, doctors told the Weisgarbers to take Donovan home and love their son as much as they could because he probably wouldn’t make it to his first birthday.
“We didn’t know how long we had,” Laura Weisgarber said. “We were devastated. We were grieving. We didn’t know what to do.”
A week after his diagnosis, the Weisgarbers took Donovan to the Muscular Dystrophy Clinic at Nationwide Children’s Hospital. There, they learned about the hospital’s Center for Gene Therapy at the Abigail Wexner Research Institute.
Although they were skeptical, the couple said they decided to try a clinical trial for SMA. Three weeks later, Donovan received Zolgensma, a gene-replacement therapy developed at the hospital’s research institute.
The one-time treatment, which allows children with SMA to function in ways unimaginable just a few years ago, delivers intravenously the gene that is missing in children with the disease.
“This allows the children to develop functions they otherwise wouldn’t have,” said Dave Lennon, president of AveXis, a Chicago-area, gene-therapy company that manufactures Zolgensma. AveXis is a Novartis company; Novartis is a global health-care company based in Switzerland.
Dr. Jerry Mendell, principal investigator at Nationwide Children’s Center for Gene Therapy, called the treatment life-changing.
“It was a breakthrough because it transformed a fatal disease into a functional improvement with a huge change in quality of life,” he said.
The U.S. Food and Drug Administration approved Zolgensma on May 24.
The approval not only gives children with SMA a new lease on life, but it also can have a huge ripple effect for the medical field, Mendell said.
“The application of SMA opens up the template to the treatment of other life-threatening diseases, so it will have a very major impact on the field,” he said.
Laura and Matt Weisgarber couldn’t be happier. Since receiving the treatment, Donovan has slowly been getting stronger, Laura said.
“I thought we were going to lose him,” she said, “and this isn’t a cure. He still has symptoms of SMA, but his life has totally been transformed.”
His parents first noticed Donovan moving his hands more. Now he can talk, sit up, roll over, hold his head up on his own and push himself in his wheelchair. He also can eat and drink, but he still has a gastrostomy tube to ensure he receives enough nutrition.
“As far as I’m concerned, the sky’s the limit,” Laura Weisgarber said. “For the future, there’s a lot of unknowns. We’re cautiously optimistic. … Our hope is that he will live into adulthood.”
The therapy provides that hope, Lennon said.
“We potentially have the opportunity to transform what was a death sentence of a disease into something that’s manageable,” he said. “We have a range of responses, but most of these kids will be able to go on and do things that kids normally do.”
But the treatment comes at a high cost. Novartis set the price of Zolgensma at $2.125 million, making it the most expensive treatment ever brought to the market. Insurers can pay $425,000 a year for five years.
“Whatever you do for children with rare diseases is going to cost a lot of money,” Lennon said. “These are patients who, if left untreated, are going to have a very high disease burden, and therefore very high associated medical cost for their care.”
For the Weisgarbers, it is hard to put a price on giving new life to their child.
“It is not cheap to create a gene,” said Matt Weisgarber. “It is not inexpensive to make part of the human body.”
When he learned that his son had been diagnosed with SMA, he wondered how he was going to cram a lifetime of fatherhood into a few months.
“I was just thinking, I’m going to tell him about baseball,” he said. “I’m going to teach him what the infield fly rule is. I’m going to teach him that U2 is the greatest band of all time.”
Now, instead of worrying, he is able to enjoy playing with his son. Donovan — or “Donny” as his dad calls him — recently had his first Little League baseball game.
“These things don’t happen in SMA type 1,” Matt said. “To say that this is groundbreaking is not enough.”