Family elated after girl with rare disorder gets funding for costly drug

It’s nothing short of a medical miracle; three-year-old Sophia Gall can now ride a bike and hop for the first time.

For months, Sophia’s parents were terrified because her miracle was in sight, but just out of reach.  It wasn’t long after she was born when her mother Julia Gall felt a nagging fear. Something was wrong.  Her daughter wasn’t reaching milestones the way she should.

Just after Sophia’s first birthday, those fears were confirmed. Sophia was diagnosed with Type 3 Spinal Muscular Atrophy, known as SMA, a rare degenerative disorder that destroys all of the body’s muscles.

Sophia couldn’t run the way other children could. She was weak and started falling more and more. Doctors told her parents she would likely be in a wheelchair within a year. Her father Alex Gall choked up at the memory.

“Just the idea that our baby girls is, you know, not going to walk,” he said.

Their only hope was the drug Spinraza — the only treatment for SMA — approved in the summer by Health Canada.

Testing promised remarkable success. Videos posted online showed children, who had been unable to sit up or walk, taking their first steps.

But Spinraza is not yet covered by Ontario or any other Canadian province because it has to go through a lengthy review process to determine cost effectiveness and benefit. That could take another year or more.

Paying for Spinraza themselves was impossible for Sophia’s parents; the drug costs US$750,000 in the first year and US$375,000 every year after that — for life.

In October, Sophia got her miracle. After months of lobbying, Alex’s health insurance agreed to pay for Spinraza, and she got her first injection.

Julia said there’s already a vast improvement after only two injections.

“It’s unbelievable the difference,” Julia said. “She’s happy; she’s not as frustrated; her confidence has skyrocketed.

“She always tells me, ‘Look what I can do, look what I can do. Can you do this mommy? Can you do this?’ Whereas before she would say, ‘Mommy, I’m broken,’ and she would cry all the time.”

But for other families who don’t have health care coverage, Spinraza is still out of reach.

Three-year-old Khloe Madgett from Peterborough, who has Type 2 SMA, is now in a wheelchair.

Her mother Jessica Madgett said she feels helpless watching as her daughter gets weaker by the day.

“Knowing there is a drug out there and I can’t get it for Khloe, I feel stressed,” Madgett said. “I can’t do anything as a parent and I feel I’m failing; I’m feeling hopeless.”

Biogen, the company that produces Spinraza, is offering the drug to Type 1 SMA patients, the most severe type, through its compassionate care program.

Khloe’s family knows the longer it takes for the drug to be funded by OHIP, the more SMA will take a toll on her body.