Alberta to start screening newborns for spinal muscular atrophy through pilot project

The Alberta government will start screening newborns for a rare genetic condition next year as part of a pilot project funded by a national organization.

Spinal muscular atrophy — or SMA — will be added to the 21 conditions babies are screened for under Alberta's Newborn Metabolic Screening Program. Staff at Alberta Precision Laboratories test blood samples taken by pricking the heel of a newborn baby. 

Treating children for SMA before they start showing symptoms greatly increases the odds they will survive. 

"Prior to newborn screening and treatments, infants born with SMA often didn't make it to their second birthday," said Stacey Lintern, CEO of Muscular Dystrophy Canada, which is funding the $366,000 one-year pilot project.

"The evidence is clear: the earlier the diagnosis, the greater the opportunities and choice and treatment and supportive care."

The news was welcomed by Jessica Janzen Olstad of Calgary, whose son Lewiston died from the condition in November 2016, just before turning six months old.

Lewiston showed no symptoms until he was two months old. That's when a family physician noticed Lewiston had little muscle tone in his body and was experiencing problems with his breathing, Janzen Olstad said. 

She and her husband had few options by the time they received a diagnosis, she said.

"There was no hope, no cure, no treatment," she said, choking back tears. "Clinical trials seemed impossible to access. They gave Lewiston less than a year.

"We prayed for a miracle, but sadly, that story was not written the way we wanted."

Janzen Olstad channelled her grief into ensuring other families would not have to experience the same devastation.

She founded the Love for Lewiston Foundation to advocate for screening, treatments and eventually a cure for SMA. The foundation worked with Alberta Children's Hospital to fund a newborn screening study for SMA in 2019. The initiative was led by Lewiston's physician, pediatric neurologist Dr. Jean Mah.

Alberta, Manitoba and Quebec announced Wednesday they'd start SMA screening, Lintern said. Muscular Dystrophy Canada is talking to other provinces, including British Columbia and Saskatchewan, about starting screening programs as well.

"We will not stop until there's full implementation of newborn screening for SMA until the end result is that every Canadian baby is screened," she said.

The Alberta government intends to keep screening for SMA after the one-year pilot program is complete.

In January, Alberta started offering interim funding for Zolgensma, a gene therapy treatment that costs $3 million per dose.