Julie Gnap will never forget the day when three small letters – SMA – made such a big impact on her life and the lives of the 2 people she loves most in the world, her daughter, Olivia, and son, Caleb.
It was March 24, 2011, when Olivia, then age 4, was diagnosed with spinal muscular atrophy in Cambridge, England, where her father was based with the U.S. Air Force. SMA is a rare genetic disease that robs people of their physical strength by affecting the motor nerve cells in the spinal cord. Over time, they lose the ability to walk, eat and even breathe.
Julie decided to move back to the United States for Olivia’s medical care and the double whammy came exactly 5 months later – August 24 – when Caleb was also diagnosed with SMA.
“We immediately gathered our extensive team of medical professionals at Akron Children’s Hospital and prepared the kiddos as we knew we had big challenges ahead,” recalled Julie.
The family settled into a new routine, juggling their many doctor’s appointments and therapy appointments around school, extra-curricular activities and family time. Olivia and Caleb especially enjoyed programs offered through Akron Children’s Emily Cooper Welty Expressive Therapy Center as the therapists were able to help them communicate through art and music about how they were feeling about the changes in their bodies.
Then, 5 years into their “new normal” came some wonderful news.
“On Dec. 24, 2016, our wishes and prayers came true,” said Julie. “The FDA approved the first ever treatment, Spinraza, to stop SMA in its tracks!”
This past year, Olivia, 10, and Caleb, 8, became the first patients to receive the new treatment at Akron Children’s.
“You can’t underestimate how incredible this breakthrough has been,” said Dr. Kathryn Mosher, a pediatric physiatrist. “We’re excited to see where it leads.”
The FDA approval for Spinraza was expedited because of the promise the new drug showed in clinical trials as an “orphan drug.” Orphan diseases are rare conditions that affect less than 200,000 patients, have devastating symptoms and no cure. Drug companies are incentivized to find cures but the drugs often hit the market with high ticket prices. Spinraza costs $125,000 per dose, apart from doctors’ and hospital costs. Olivia and Caleb are in the middle of their 4 “loading” doses this first year and will each need a dose every 3 months for their rest of their lives. Their insurance, through their father, has covered all of their costs.
Spinraza is administered in the hospital’s interventional radiology OR suite through a lumbar puncture. The procedure is prone to induce headaches severe enough to require hospitalization and interfere with school. Olivia and Caleb have each experienced this but keeping a focus on the long game – slowing SMA’s progression – helps them through the setbacks.
Children who are diagnosed with SMA before the age of 6 months are the most severely affected and generally have a life expectancy of 2 years. Thankfully, Olivia (who also goes by “Liv”) and Caleb have “Type 3,” one of the mildest forms of SMA.
Julie’s first concerns came when she noticed Olivia wasn’t keeping up with peers on her physical milestones. Caleb was diagnosed at age 2.
As they have grown, the kids’ muscles have weakened. While both can still walk, they can’t run like other kids their age. For longer trips away from home, they bring along a wheelchair or medical stroller anticipating the kids will tire.
“It’s kind of like us waking up with a sixth or eighth of our muscle strength,” Julie said. “They’re aware of their disorder. Their muscles just don’t work like other people’s muscles. The drug is going to stop them from getting any weaker but it’s not going to completely take away SMA.”
While extremely costly, the new wave of drugs coming as a result of the Orphan Drug Act could end up saving health care dollars and improving quality of life for thousands of children.
“If this drug pans out to be as good as it is in the studies, it’s going to save money in the end,” said Dr. Bruce Cohen, director of Akron Children’s NeuroDevelopmental Science Center. “These kids aren’t going to need ventilation in the hospital. We have kids who weren’t sitting up who are and will be walking soon.”
But the Burgess family just takes it one day at a time.
Before their second Spinraza treatment, Olivia passed time in a pre-surgical room playing with her homemade “slime,” which she keeps in a neatly-divided plastic container. Highlighting her obvious love for arts and crafts, her slime assortment comes in nearly a dozen colors and textures.
Meanwhile, Caleb was in the next room content with video games and making music with Jessica Cole-Robinette, a music therapist who brought several instruments with her to help him pass the time and calm his nerves.
The affection between the siblings is obvious.
As Olivia was being rolled to the OR, Caleb shouted, “Bye, Olivia.”
“Bye, Caleb. I love you,” replied Olivia.
Their mother said their “Spinraza journey” has been both exciting and just a tad discouraging.
“They want immediate results,” she said. “With being fatigued and having all of these pokes, it’s been tough on them. It’s tough on their little bodies. You’re trying to set up this expectation that this is an amazing drug and, when they get it, they feel like crap.”
Still, Julie considers her children to be healthcare warriors – as much is still to be learned from their experience that will help kids in the future.
But, for now, their goals are simple.
Olivia dreams of being able to run with her friends during recess, while Caleb says he hopes Spinraza will allow him to be “strong enough and do stuff I can’t do.”