Newborns in Alberta to Get Screened for Spinal Muscle Atrophy: “Every Day Counts”

A test for spinal muscular atrophy will be added to Alberta’s metabolic newborn screening program beginning in early 2022 as a one-year pilot program. After the pilot project, the AMS screening test will be part of the province’s newborn screening program.

Currently, all babies born in Alberta are screened for 21 conditions with a blood test taken from a heel prick to help find conditions that can be treated early.

“Every minute, every day counts,” said Jessica Janzen Olstad, whose son Lewiston was diagnosed with Type 1 SMA at the age of two and a half months.

AMS is a rare genetic disorder that weakens muscles by affecting motor nerve cells in the spinal cord.

“Once they lose that ability, it’s so hard to regain it,” Janzen Olstad said.

“If we had known Lewiston had this disease, if we had been able to find out the diagnosis and access the treatment, I really believe Lewiston would be here today. “

She said once her son was officially diagnosed their medical support team did everything in their power to treat him, but it was already too late.

“If we had been diagnosed at birth or at one week of age, we could have requested a clinical trial.

“Everyone did what they had to do, but it’s all a process. And that shows you how critical time was. By the time we received it and Lewiston received treatment, it was just too late. The deterioration had just occurred.

Since the death of her son, Janzen Olstad and her husband have advocated for research, testing and support for SMA families.

Alberta’s announcement on Wednesday is a great first step, she said.

“These children have the hope of walking … of having a full and abundant life.”

“I believe that one day there will be a cure. It’s one more step, one more piece in the puzzle to get us closer to that. “

Muscular Dystrophy Canada is providing $ 366,000 to Alberta Precision Laboratories for the implementation of the test.

Alberta Health determines which conditions are screened for and Alberta Health Services runs the program.

3:44Health issues: February 13

“Adding spinal muscular atrophy to the newborn metabolic screening program will have a direct impact on the lives of babies born with this serious genetic disease, preventing long-term health complications and infant deaths through a early detection and treatment before they show symptoms, ”said Dennis Bulman, medical / scientist director of genetics and genomics at Alberta Precision Laboratories.

Treatment for spinal muscular atrophy is most effective before symptoms appear.

“In a neuromuscular disease like spinal muscular atrophy, where time is of the essence, early diagnosis and timely access to treatment are essential for achieving the best possible results,” said Stacey Lintern, CEO of Muscular Dystrophy Canada.

Alberta currently provides coverage for Spinraza (nusinersen), the first marketed treatment in Canada for patients with AS, through government sponsored drug plans.

In January, Alberta announced bridge funding for Zolgensma, a one-time gene therapy treatment costing $ 3 million per dose, to treat pediatric ADS. Specialists can request access to Zolgensma on behalf of their patients for coverage to be considered for the interim period while the drug is under review.

1:16Alberta announces interim access to Zolgensma for children with spinal muscular atrophy

The Love for Lewiston Foundation and the Alberta Children’s Hospital Foundation funded the launch of a 2019 newborn spinal muscular atrophy screening study, led by Dr. Jean Mah, pediatric neurologist at the hospital. for children of Alberta.

Working in collaboration with researchers at the University of Calgary and the University of Alberta, this work laid the groundwork for the introduction of newborn screening for AS in Alberta, the government said.

The Love for Lewiston Foundation has raised more than $ 1.1 million in four years, Janzen Olstad said. Much of that, she said, comes from private donations – fundraisers for children’s birthdays, people tending to help fund research and pay for medical equipment for SMA families.

“Watching your child suffer and struggle for every breath – ‘Is that going to be it? Is this breathing going to be okay? ‘ – was one of the most painful experiences of our family’s time together, ”said Janzen Olstad.

“It changed our perspective… How different could our story have been if we had understood the diagnosis or got the diagnosis at birth? “

Janzen Olstad knows her goal now is to help other SMA babies get diagnosed early and live long, healthy lives.

She recalled a conversation she had with her mother when her grandson was fighting her battle.

“I was like, ‘What if we don’t get the Lewiston miracle? And she said, ‘Maybe the miracles are after she passes away.’

“He’s one of them. It’s pretty amazing.