Alberta announces pilot project screening for spinal muscular atrophy in newborn babies

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Alberta will become the second province to screen all newborns for a rare genetic disorder beginning next year, the province announced Wednesday.

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“Grief can swallow you whole,” said Jessica Janzen Olstad, who lost her son to spinal muscular atrophy (SMA), which progressively destroys nerve cells in the brain stem and spinal cord that control muscles used for speaking, walking, breathing, and swallowing.

“SMA robs the body of movement. Every breath becomes a challenge,” said Olstad, the executive director of the Love for Lewiston Foundation at a government news conference. She called the announcement a “milestone.”

Her son, Lewiston Olstad, died before his six-month birthday in 2016, but his symptoms, including laboured breathing and low to no muscle tone, did not appear until almost two months after he was born.

“Instead of asking why did this happen, why Lewiston, we have chosen to ask, ‘so now what’? Newborn screening is our ‘so now what’?” she said.

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Muscular Dystrophy Canada is putting $366,000 into Alberta’s pilot project that will add SMA screening to the province’s existing newborn screening program, which currently tests for 21 conditions.

Stacey Lintern, Muscular Dystrophy Canada CEO, said via video at the conference that it will change the lives of babies born with the condition.

“Prior to newborn screening and treatments infants born with SMA often didn’t make it to their second birthday. The evidence is clear: the earlier the diagnosis, the greater the opportunities in choice and treatment and supportive care,” Lintern said.

The screening is done through a blood spot collected from a heel prick, and can help speed up treatment before symptoms appear.

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Health Minister Tyler Shandro said at a news conference the government would evaluate the effectiveness of SMA screening, but he expects it to become publicly funded after the one-year pilot is done.

Dr. Dennis Bulman, medical scientific director of genetics and genomics at Alberta Precision Laboratories, said babies who screen positive will be referred to specialists who can make a diagnosis.

Bulman said because the province’s program doesn’t screen for conditions that have no treatment, the new screening was predicated on having treatment available.

In January, the province announced it would fund Zolgensma, a gene-replacement therapy that costs $2.8 million, on a case-by-case basis. Alberta also provides coverage for Spinraza, a gene-modifying treatment, through government-sponsored drug plans.

Bulman estimated that the screening could cost the province, once it becomes publicly-funded, approximately $300,000 per year.

Ontario introduced a pilot project for SMA screening program in January 2020, and made it an official part of the province’s screening panel last July.

lijohnson@postmedia.com

twitter.com/reportrix

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