Alberta family denied multi-million-dollar gene therapy funding

An Alberta family has been dealt a devastating blow after being informed that their child does not qualify for funding for a potentially life-changing and costly gene therapy treatment.

“We just got his official denial letter for Zolgensma in the mail,” Alex Johnston said from her home in Edmonton.

“That was like getting my heart broken all over again.”

Johnston's two-year-old son Reign was born with scoliosis, a concave chest and Type 1 spinal muscular atrophy (SMA), a condition that essentially causes his muscles to waste away.

Reign's parents have been fundraising to treat their son with the $2.8 million gene therapy Zolgensma.

Read more: Fighting for Reign: Alberta boy's family says he needs $2.8M treatment for rare disorder

However, when the Alberta government announced in January that the drug would be funded for children on a case-by-case basis, Reign's family thought it was the solution they had been hoping for.

“When we heard the news, we thought it was a godsend,” Reign's dad Ryan Fengstad said. “We were diligent about getting our application in and our neurologist said, ‘Look, I made the recommendation for Reign to get this drug. He's an ideal candidate.'”

Reign's disease progression is currently being slowed by the drug Spinraza, which began being covered by Alberta Health in 2019. The drug is administered through a spinal tap. However, due to an adverse reaction to the anesthetic, Reign must undergo the procedure multiple times a year without it.

“Every four months, he has to go in for an epidural or spinal tap and the injection is pretty painful,” Fengstad said. “He never goes under anesthetic. They put a numbing agent on his back.”

Read more: Alberta to cover treatment for spinal muscular atrophy on case-by-case basis

After months of waiting, Reign's parents said they found out last week that their son had been denied funding for Zolgensma due to his BiPAP (Bilevel Positive Airway Pressure) and gastrostomy tube, which help Reign breathe and eat.

“His application went in on Feb. 5 and these past few months have been gruelling,” Johnston said. “Now we finally get a phone call saying he's been denied and their reasoning was really weird.”

While the Alberta government can't comment on specific cases, it said two applications had been received since the health minister's announcement in January.

“Each application is reviewed individually on a case-by-case basis,” said Alberta Health spokesperson Zoë Cooper in a statement to Global News.

“Our intent is to fund the treatment for every patient for whom it is clinically appropriate, subject to the best evidence and evaluation from independent medical experts at a point in time.”

Cooper added the evaluation includes assessing the latest scientific evidence, current recommendations for the treatment’s use and data that shows whether a patient will benefit from this particular treatment.

“This information comes from a number of independent sources — sources outside of government such as scientists, researchers, physicians and the manufacturer,” Cooper said.

Read more: Alberta family raising $2.8 million for baby to receive cure for spinal muscular atrophy in U.S.

Dr. Peter Kannu, who sits on the advisory board for Novartis, which develops SMA treatments, said more needs to be done in Alberta to have children diagnosed earlier.

“In this particular condition, we know that the earlier you treat it, the more likely the prognosis is to be good,” he said.

“This is simply because there are cells in the body that die with time, and once they are gone, the medication cannot replace them.”

Kannu, who is also the chair of medical genetics at the University of Alberta, said babies born in this province should be automatically screened for SMA.

“Ontario has taken the lead on this,” Kannu said. “The newborn heel prick test (now has) SMA testing added to it so it can be identified shortly after birth.

“The whole argument now changes, not in terms of trying to identify and make the diagnosis, but let's get the treatment started very quickly.”

Read more: New Alberta program aims to solve children's medical mysteries

Reign's parents also believe if their son had been diagnosed earlier, he wouldn't need the breathing apparatus, which is now preventing him from being funded.

“Had (SMA) been caught in the newborn screening, we likely wouldn't be sitting here today,” Fengstad said. “Reign wouldn't be sitting here with the mask on, he never would have spent the seven months in the Stollery Hospital and he would have been treated with Zolgensma already.

“We certainly wouldn't wish this on our worst enemy.”

Reign's parents are far from giving up and are continuing their fundraising efforts. They said so far, they have raised about $300,000 and are hoping money from an angel donor will spark more interest in their campaign.

“We're continuing to push for it because we see it as the best opportunity for Reign to have the best life possible,” Fengstad said.

– With files from Allison Bench