“Nolan likes helping me make breakfast these days,” says his mother, Kerri Beirnes. “He can get the toaster button down halfway and then needs support. Most five-year-olds can do this by themselves, but it’s amazing that Nolan can press the button down at all.”
Nolan struggles with this task because he has Spinal Muscular Atrophy (SMA) Type 1, a rare genetic neuromuscular disease that causes muscles to weaken over time. “SMA was untreatable until quite recently,” Kerri says. “Most patients with Type 1 died by the age of two.”
Thankfully, cutting-edge treatments for SMA and newborn screening are significantly improving health outcomes for young patients like Nolan. Most provinces in Canada now include SMA in their newborn screening panels, which means babies can receive treatment as early as a few weeks of age before any symptoms appear. With treatment, many go on to meet or exceed the developmental milestones associated with their SMA type.
Unfortunately, Nolan was born in May 2017, a few years before newborn screening for SMA started in Canada. He was six weeks old when Kerri noticed he was unable to lift his head while on his tummy—something his sister Fiona had done with ease at the same age.
By the time Nolan was diagnosed at six months old, he was already in extreme respiratory distress due to a virus. He needed a tracheostomy to clear his airway and a gastrostomy tube for feeding. “The protocol at the time was not to provide tracheostomies to patients in Nolan’s condition,” Kerri says. “The advice was, ‘Take your child home and love them.’”
Fortunately, a new SMA treatment had just received federal approval in Canada. Nolan qualified for a compassionate dosing program through a pharmaceutical company. “Those first treatments saved his life,” Kerri remembers. “Subsequent treatments have significantly improved his quality of life.”
The timing of these treatments is critical and can help reduce additional health-care costs. “If Nolan had been screened for SMA, his treatments would have begun much sooner,” Kerri says. “He probably wouldn’t have needed a tracheostomy.” The related costs are staggering—from his ventilator and electric wheelchair, to overnight and school nursing, to nearly 200 days in pediatric intensive care.
“Intellectually, Nolan is on par with other children his age,” Kerri says. “He is super social—always seeking to engage when somebody comes into the room.”
His physical development is the real challenge. In SMA Type 1 patients, this development is measured on the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scale. Nolan’s first measurement took place in late 2017. “He initially scored around 20 out of 64,” Kerri says, which is average for a patient with SMA Type 1. Prior to treatment, Nolan could only lay flat on his back and move his hands and his eyes.
“One of the best days of my life was in February 2018,” Kerri says. Nolan was nine months old and had been receiving treatment for only two months. “He moved his hip flexor muscle on his own—a huge moment.”
In addition to his treatment, Nolan worked on supported sitting with physiotherapists and occupational therapists. “In summer 2020, Nolan started to sit with the help of his back brace for about 20 seconds at a time,” Kerri says.
With the help of a second treatment and continued physical therapy, Nolan can now sit independently in his back brace for up to 20 minutes. The medications also helped him move off his ventilator, which he now uses only at night. Today, Nolan’s CHOP INTEND score hovers around 60. His life is much closer to that of other five-year-olds.
Nolan’s experiences with innovative medicines give Kerri optimism for further advances. “I’m hopeful for work that’s going on to enhance gene therapies and target muscle function,” Kerri says. “I’m also excited about research into nerve cell regeneration that could someday help people with SMA.”
Kerri says life as a caregiver is challenging, but Nolan’s progress inspires her to advocate for earlier access to treatments in Canada—especially for the many adult SMA patients in Canada. “The adult patients are so happy to see children like Nolan getting treatments,” she says, “but it’s bittersweet because they don’t have the same access. We need to change that.”
New treatments bring new hope
“Nolan is living a life that couldn’t have been anticipated for a child with SMA just a few years ago,” Kerri says. “We thought his life would be terribly short. Now he’s going to kindergarten. He loves Spider-Man. He’s in a bowling league. We are very grateful for the innovative medicines that have helped along the way.”
- Visit Cure SMA Canada to learn more about the disease.
- Read the stories of other patients.