UPDATE: The Alberta government announced on Dec. 1, 2021, that it had reached a long-term pricing agreement with the manufacturer of Zolgensma, and the gene therapy treatment used for spinal muscular atrophy had been added to the Rare Diseases Drug Coverage Program.
A test for spinal muscular atrophy will be added to Alberta’s Newborn Metabolic Screening Program starting in early 2022 as a one-year pilot program. After the pilot, the SMA screening test will become part of the province’s newborn screening program.
Currently, all babies born in Alberta are screened for 21 conditions through a blood spot test collected 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 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 nerve cells in the spinal cord.
“Once they lose that ability, it’s so hard to regain that,” Janzen Olstad said.
“Had we known Lewiston had this disease, had we been able to find out the diagnosis and access treatment, I truly believe Lewiston would be here today.”
She said once her son was officially diagnosed, their medical support team did everything they could to get him treatment but it was already too late.
“Had we gotten that diagnosis at birth or at a week old, we would have been able to apply for a clinical trial.
“Everyone did what they needed to do but it’s all a process. And it shows you how critical the time was. By the time we got it, and Lewiston received treatment, it was just too late. The deterioration had just taken place.”
Since her son passed away, Janzen Olstad and her husband have been advocating for research, screening and supports for SMA families.
Alberta’s announcement Wednesday is a great first step, she said.
“These kids have hope to walk… to have a full and abundant life.”
“I believe one day there will be a cure. This is 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 to implement the test.
Alberta Health determines which conditions are screened and Alberta Health Services delivers the program.
“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 condition, preventing long-term health complications and infant deaths through early detection and treatment before they show symptoms,” said Dennis Bulman, medical/scientific director of genetics and genomics with Alberta Precision Laboratories.
Treatment for spinal muscular atrophy is most effective before the onset of symptoms.
“In a neuromuscular disorder like spinal muscular atrophy, where time is of the essence, early diagnosis and prompt access to treatments are critical to achieving the best possible outcomes,” said Stacey Lintern, CEO of Muscular Dystrophy Canada.
Alberta currently provides coverage for Spinraza (nusinersen), the first therapy marketed in Canada for SMA patients, through government-sponsored drug plans.
In January, Alberta announced interim funding of Zolgensma, a one-time gene therapy treatment with a cost of $3 million per dose, to treat pediatric SMA. Specialists can apply for access to Zolgensma on behalf of their patients for coverage to be considered during the interim period while the drug is under review.
The Love for Lewiston Foundation and the Alberta Children’s Hospital Foundation funded the launch of a spinal muscular atrophy newborn screening study in 2019, led by Dr. Jean Mah, a pediatric neurologist at the Alberta Children’s Hospital.
Working in collaboration with researchers at the University of Calgary and the University of Alberta, this work laid the foundation for introducing SMA newborn screening across Alberta, the government said.
The Love for Lewiston Foundation has raised more than $1.1 million in four years, Janzen Olstad said. So much of that, she said, has come from private donations — kids’ birthday party fundraisers, individuals reaching out to help fund research and pay for medical equipment for SMA families.
“Watching your kid suffer and struggle for every breath — ‘Is this going to be it? Is that breath going to be OK?’ — was one of the most painful experiences of our family’s time together,” Janzen Olstad said.
“It has shifted our perspective… How different could our story be had we understood the diagnosis or got the diagnosis at birth?”
Janzen Olstad knows her purpose now is to help other SMA babies be diagnosed early and live long, healthy lives.
She recalled a conversation she had with her mother when her little son was fighting his battle.
“I was like: ‘What if we don’t get the miracle of Lewiston living?’ and she said: ‘Maybe the miracles are after he passes.’
“This is one of them. It’s pretty incredible.”
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