ST. AUGUSTINE, Fla — Eli Campbell was 14-months-old when he was diagnosed with spinal muscular atrophy, or SMA. It is a severe, progressive neuromuscular disease.
“Without any treatment or intervention, the typical life expectancy for a child with Type Two SMA would be 18 to 36 months," Kevin Campbell of Cure SMA, said. "As of last year, he was given s full bill of health, a full life expectancy."
Over the past five years, Campbell, who acts as the Cure SMA Northeast Florida Chapter Leader, said research has transformed the face of the disease.
He and his wife, Maria Campbell, enrolled their oldest son, now 4 years old, in his second clinical trial last year. This one is for Evrysdi, a medicine Eli takes orally every day that was approved by the FDA this year.
“Like a month and a half, two months after he started it, we started to see really big gains in him," Kevin Campbell said. "His energy levels started to go up drastically. His endurance, like times, when we were finding him, you know, in the evenings, he'd be tired usually and starting to get sluggish. And now it's like, you know, I have a normal four-year-old kid that's doesn't want to go to bed, and he's high energy."
Maria Campbell said her son can now get out of his wheelchair and take steps with help.
“He’s now able to pull up to the standing position," Maria Campbell explained. "He’s able to go to the kneeling position, so it's just amazing seeing your kid progressing and not taking for granted like so many things that I was told he wasn't even going to be able to do."
In two clinical trials, the manufacturer, Genentech, said Evrysdi improved motor function in people living with SMA and helped infants survive without permanent ventilation and sit without support.
“From a health standpoint, he's doing phenomenal," Kevin Campbell explained. "He continues to make gains when it comes to physical therapy, and he's progressing in every way possible, which is rewarding, you know, as parents to see that."
The Campbells hope by being part of this clinical trial, researchers will continue to learn more about SMA to help not only their son, but others also battling the genetic disease.
“These medicines are what are saving our family members, so I feel like we owe it, you know, to the clinicians and the researchers to allow them to gather as much data as possible, so they can make improvement as times go on,” Kevin Campbell said.
The medicine is expensive.
Genentech said it is priced at a maximum of $340,000 per year. There are programs and grants to help with the expense and work with your insurance company.