Newborns in Alberta are screened for spinal muscular atrophy: “every day is important”

Testing for spinal muscular atrophy will be added to Alberta’s Neonatal Metabolism Screening Program, which will begin in early 2022 as a one-year pilot program. After the pilot, the SMA screening test will be part of the state’s newborn screening program.

Currently, all babies born in Alberta are screened for 21 conditions by blood spot tests collected from heel puncture wounds to find conditions that can be treated early.

“Every minute, every day is important,” said Jessica Janzen Olstad, whose son Lewiston was diagnosed with SMA type 1 when he was two and a half months old.

SMA is a rare genetic condition that weakens muscles by affecting the motor neurons of the spinal cord.

“Once they lose that ability, it’s very difficult to get it back,” said Janzen Olstad.

“If I knew that Lewiston had this disease and could find a diagnosis and access treatment, I really believe Lewiston is here today.”

She said that after her son was formally diagnosed, their medical support team did everything they could to get his treatment, but it was already too late.

“If I had been diagnosed at birth or in the first week of life, I would have been able to apply for a clinical trial.

“Everyone did what they needed, but it’s all a process, and it shows how important time was. It’s too late when we got it and Lewiston was treated. It was just deteriorating. “

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

She said Wednesday’s Alberta announcement was a great first step.

“These kids want to walk … to live a fulfilling and prosperous life.”

“I think there will be a cure someday. This is another step and another piece of the puzzle to bring us closer to it.”

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Muscular Dystrophy Canada is offering Alberta Precision Laboratories $ 366,000 to carry out the test.

Alberta Health determines the conditions to be screened and Alberta Health Services offers the program.

“Adding spinal muscular atrophy to the neonatal metabolism screening program has a direct impact on the lives of babies born with this severe genetic condition, and through early detection and treatment before symptoms appear, long-term health complications and It prevents the death of the baby, “said Dennis. Bulman, Director of Medical / Science in Genetics and Genomics at Alberta Precision Laboratories.

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

“In neuromuscular disorders such as spinal muscular atrophy, time is important, and quick access to early diagnosis and treatment is important for achieving the best possible results,” said Canadian Muscular Dystrophy. CEO Stacey Lintern said.

Alberta is currently targeting Spinraza (nusinersen), the first treatment marketed for SMA patients in Canada, through a government-sponsored drug program.

In January, Alberta announced provisional funding for Zolgensma, a one-time gene therapy that costs $ 3 million per dose to treat pediatric SMA. Specialists can apply for access to Zolgensma on behalf of the patient and consider scope during the interim period during drug review.

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

In collaboration with researchers at the University of Calgary and the University of Alberta, the government said the study laid the foundation for the introduction of SMA newborn screening throughout Alberta.

His love for the Lewiston Foundation has raised more than $ 1.1 million over four years, Janssen Olstad said. She said many of them came from personal donations — individuals reaching out to help with fundraising for children’s birthday parties, research funding and medical device payments for the SMA family.

“See your child suffering and suffering every time he breathes —” Is this what it is? Is that breath okay? — It was one of the hardest experiences our family had with us, ”said Janzen Olstad.

“It changed our perspective … how would our story be different if we understood the diagnosis or were diagnosed at birth?”

Janzen Olstad knows that her purpose is to help detect other SMA babies early and lead a long and healthy life.

She remembered having a conversation with her mother when her little son was fighting.

“I was like,’What if Lewiston’s miracle wasn’t alive?’ And she said:” Maybe the miracle is after he’s passed by. “

“This is one of them. It’s great.”