Advocates push for Alberta's screening of Spinal Muscular Atrophy in newborns to continue

This year, Alberta became the third province to begin testing babies for Spinal Muscular Atrophy (SMA), a rare genetic disease that is best treated before a patient is two years old.

The test for SMA was added to Alberta’s Newborn Metabolic Screening Program in February. It's now one of 22 conditions officials look for.

The test is done through a heel-prick that produces a tiny droplet of blood. The blood is then placed on special filter paper and sent to Alberta Precision Laboratories’ (APL) newborn screening lab in Edmonton.

“This is really important," aid Dr. Dennis Bulman APL’s medical-scientific director of genetics and genomics.

"We're looking at about one in 10,000 babies being born with SMA, So we'll … Project five to six babies a year that are now not going to be passing away before the age of two, (who) will hopefully become functional contributing members of society.”

SMA is an inherited genetic disorder. It's a motor neuron disease that weakens and eventually destroys muscles. Most children with SMA Type 1 do not survive past early childhood due to respiratory failure.

There are effective treatments, but to be effective they must begin before the onset of symptoms.

"The idea now is to identify which babies have this disorder before they show symptoms, and then get them referred to the pediatric neurologist so that we can start treatment within a couple of weeks after birth rather than six to eight months after birth," said Bulman.   

The treatments are expensive.

In January, Alberta announced interim funding of Zolgensma, a one-time gene therapy treatment with a cost of $3 million per dose. 

Despite that, Bulman insists it is not just the morally correct course of action, but the most cost effective as well.

"We can save the lives of 10 babies, and when you look at the support costs, if you don't do this, you'll blow that treatment costs right out of the water because you need to support the family, and these infants are in the hospital. That’s an expensive undertaking.

"It's the right thing to do, and at the end of the day it saves money in the health care system," he said.  

Jessica Janzen Olstad has been fighting for SMA testing to be a regular procedure ever since her son Lewiston died of the disease in 2016.

Lewiston Olstad is shown in a photo from the Live for Lewiston Foundation. (supplied) Following his death, she founded the Love for Lewiston Foundation, which raises money to help other parents of children with SMA and to lobby for health policy change.

"In 2016, there was no treatment. There was no medication, there was nothing,” said Olstad.

"Now with three different medications on the market, we know that early detection means that you can change the life of a child and a family. So this was important to us because we were like if we had known with Lewiston. If we'd gotten a clinical trial or medication, we believe he'd still be alive today."

Alberta's screening program for SMA is presently a one-year pilot project funded by Muscular Dystrophy Canada. When it was announced in the summer of 2021, then health minister Tyler Shandro committed to making the test a part of routine newborn screening at the conclusion of the pilot project. Patient advocates say continued pressure is needed to ensure that happens.

Olstad says it needs to become a permanent part of Alberta health policy.

"This is a no brainer. It is a win not only for families but for the province as a leader in health care, and it does make sense. We want a meeting (with Alberta Health) and we want it moved from pilot project to assigned policy."

In 2020-21, more than 48,000 newborn babies born in Alberta were screened for genetic conditions.