CLEVELAND — The way she plays, the way she laughs, the way she walks and talks — Avery Poff is your typical two-year-old.
And speaking of smiles that melt your heart: meet one-year-old Layla Zaghari.
Two beautiful, spunky little girls — bursting with personality.
THE DISORDER
Both were diagnosed days after they were born with a terrifying, typically fatal disease called SMA, or spinal muscular atrophy.
“The very sad conversations I used to have with families saying, ‘I’m sorry your child has this disease, there’s nothing we can do; fast forward to 2016, now 2022, the first treatments came out for this disorder,” said Dr. Nancy Bass, a pediatric neurologist at University Hospitals Rainbow Babies and Children's Hospital.
THE DRUG
The drug is a gene therapy medicine called Zolgensma — a one-time infusion that can literally save a child’s life.
After two decades of development, Zolgensma was approved by the FDA in May 2019 for use in children under two and has been used in 2,300 cases since then through clinical trials and commercial settings around the world.
Before that, 98% of children with SMA Type One were dead by age two.
Bass has been a child neurologist for 22 years and has sadly lost many patients to SMA over the years.
She never thought she would see treatments like this in her career, in her lifetime.
“To see children who should be paralyzed, who run up and greet me and give me hugs. I mean they shouldn’t have ever learned to sit, learned to walk,” Bass said. “It’s mind-blowing actually.”
Avery was 26 days old when she got her dose of Zolgensma.
“It was just amazing when she got it, it felt like God literally gave us a hug and said, ‘You’re gonna be OK, your baby will be fine,’” said her mom Amber.
Layla was 35 days old.
“I want people to know, if you find out your child has something like this, don’t be afraid because this really is the future of SMA,” said her mother Maysa.
THE NEWBORN SCREENING
SMA affects about one in every 10,000 births and is a progressive disease. According to Bass, it used to be the most common cause of death in children from a genetic disorder.
Both Layla and Avery’s cases were discovered through Ohio’s newborn screening, which is now required for all babies across the state.
SMA was added to the disorders they screen for just in recent years.
Doctors News 5 spoke with they hope all states make it mandatory because they see just how much it can save a life.
The reason the FDA only approved it for children under two years of age is that the sooner you receive treatment, the better your outcomes. Prior to the newborn screening requirement, parents of healthy babies didn’t realize their children had SMA until they were between three or six months old and their conditions began deteriorating.
“Because the nerves aren’t working, they don’t have any reflexes — very loosey-goosey, low muscle tone, they don’t have any reflexes and they progressively get worse,” Bass said.
But after treatment, both Layla and Avery are meeting and surpassing all their milestones, surprising everyone after their SMA diagnosis.
Dr. Andre Prochoroff is a child neurologist at Metrohealth Medical Center, who treated Layla and marvels at how far she has come.
He calls Zolgensma a game-changer.
THE COST
But you can’t talk about this miracle drug, without talking about its jaw-dropping price — more than $2 million for a single dose, a one-time infusion that takes about an hour, with impacts that last a lifetime.
“Can I legitimize being the most expensive drug on the market today? I don’t know, it’s beyond my payroll so to say,” Prochoroff said.
JB Silvers is a professor of health care finance at the Case Western Reserve University’s Weatherhead School of Management with nearly 50 years of experience in the industry.
“The challenge is, how do you judge the value of human life?” Silvers said. “I mean, that is the fundamental underlying question. And it's infinite, if it’s my life, it’s certainly infinite.”
Silvers said drugs like this gene therapy medicine will test the ability of the insurance market, the government systems in place, and the willingness of society to step in.
“A lot of people would love to believe all this could be taken care of by the private market — just let the market work, insurance companies can take care of it,” Silvers said. “But it just isn’t going to be the case. We don’t deal with floods and disasters that way, and COVID has tested our limits.”
Novartis is the drug maker, telling News 5 that to date, nearly 98% of U.S. patients have been covered.
A company spokesperson said Zolgensma is priced at around 50% less than multiple established benchmarks, including the 10-year cost of the current standard in chronic SMA treatment.
WHO IS PAYING?
In Layla’s case, Medicaid paid 100%.
For Avery, private insurance took care of everything but the deductible.
“We’re very grateful,” said parents Amber and Ben. “I mean, it saved our baby's life. I just have no doubt that without it. she probably would not be walking or just doing amazing things. I’m just really grateful for her, for the drug.”
Zolgensma has been used at Metrohealth just once so far, for Layla.
At University Hospitals, Bass said they’ve utilized it 10 times since it became approved — all cases from the U.S. were covered by insurance after rigorous amounts of legwork.
But she gets emails weekly from international families, begging for help.
She recalls one child who flew to Cleveland from Ukraine to get the treatment — his family, raising nearly $3 million through crowdfunding.
THE FUTURE
“This is the future of medicine and so many other treatments are in the works for other things like sickle cell, ALS, even muscular dystrophy,” Bass said.
A game changer, a life-saver, a miracle drug.
Whatever you want to call it — this is the future of medicine.
And these babies will have bright futures because of it.
