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Mason on the day he received gene therapy at Jim Pattison Children’s Hospital in Saskatoon, on Sept. 2, 2021.
Lindsay Williamson/Handout
One of the first things Mason’s family noticed when he was born on June 23 was the softness of his cries. When their pediatrician tested the baby’s step and startle reflexes the next day, his body didn’t respond.
It would be a month before Mason would be diagnosed with spinal muscular atrophy (SMA), a rare genetic disease that weakens and wastes muscle and can impair walking, breathing, speaking and swallowing. Time is critical: Without early diagnosis and early access to treatment, many children with the most severe forms of the disease do not live past the age of 2.
If Mason had been born in Ontario, his blood would have been tested for the condition at birth, with a heel prick. His treatment, one of the world’s first and most expensive one-time gene therapies, would likely have been accelerated.
But Mason was born in Saskatchewan, which currently does not test for the disease during newborn screenings. That meant his diagnosis was delayed by weeks, as his doctors performed an ultrasound, an MRI and battery of blood work, trying to find answers.
Today, only Ontario and the Baffin region in Nunavut provide screening for SMA at birth, according to Muscular Dystrophy Canada. Alberta and Manitoba will launch their own pilot projects to develop newborn screening for the condition, but not before next year. Planning for SMA testing programs is also under way in Quebec. In a statement to The Globe and Mail, Saskatchewan’s Ministry of Health pledged to expand the universal newborn screening program to include SMA, though the province did not commit to a firm timeline.
“It is frustrating that postal-code health care comes into play: If my child is born outside of a province that offers screening, that means they might not catch the disease,” said Lindsay Williamson, Mason’s mother. “To have the insight so much earlier on through something as simple as newborn screening, it’s a game changer.”
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Approximately one in 10,000 babies are born with SMA each year. The disease is caused by a defective or missing SMN1 gene, which causes a rapid loss of motor nerves and weakening of muscles.
Lindsay Williamson
Ms. Williamson, 35, said she’s felt guilt throughout the ordeal: Had the family not moved from Ottawa to Regina for work during her pregnancy, Mason would have been diagnosed almost immediately, possibly receiving treatment sooner.
“With a disease like SMA, you look at him and you wonder every day, ‘Are you losing something today? If we had done something quicker yesterday, would we have been able to safeguard you?’ It’s a real emotional roller coaster.”
The lack of SMA screening at birth across much of the country troubles experts, especially given treatments are available and effective, but only when delivered early, before too many motor nerves are irreversibly damaged.
Treatment options include Spinraza, administered through a spinal injection, and Evrysdi, an oral treatment, which work to slow the progression of the disease by helping the body produce more SMN proteins, essential to the nerves that control muscles. The gene therapy treatment Zolgensma, approved by Health Canada in December, 2020, works by replacing missing or defective SMN1 genes and restoring proteins; the one-time treatment is administered intravenously. While longitudinal data remain limited, early studies show the treatments are promising for some patients.
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“The earlier you treat, the more nerves there are, the better the outcome,” said Mark Tarnopolsky, a professor of pediatrics and medicine at McMaster University who served on a committee that helped bring newborn screening for SMA to Ontario. He’s now urging other provinces to roll out the technology.
Approximately one in 10,000 babies are born with SMA each year. The disease is caused by a defective or missing SMN1 gene, which causes a rapid loss of motor nerves and weakening of muscles.
“It can affect different organs: muscles, the heart, lungs,” said Homira Osman, vice-president of research and public policy at Muscular Dystrophy Canada, a non-profit organization that is advocating for all provinces to screen for SMA at birth.
“It’s through what we already do with infants across the country. We’re doing the heel prick. That blood sample is then tested for a number of different conditions,” Dr. Osman said.
Newborn screening is particularly important since family physicians and pediatricians commonly miss the rapidly intensifying disease, failing to spot or test for it until a health crisis hits, Dr. Osman said: “Many of these families without newborn screening are likely getting a diagnosis after respiratory complications, cardiac complications or significant motor delays.”
She and other experts stress that, given that treatment is available, it’s especially crucial to screen for the disorder.
A 2019 German study of 165,525 children found newborn screening for the disease led to presymptomatic treatment and improved outcomes for children with the condition. “Newborn screening for SMA should be introduced in all countries where therapy is available,” the authors concluded.
“Untreated … these kids will not be able to crawl, they’re likely to develop scoliosis, breathing problems and be profoundly impaired, often requiring a feeding tube. With treatment, the earlier we get it, the greater is our expectation that the children will start to crawl, possibly walk and be less likely to have severe feeding and breathing issues,” said Dr. Tarnopolsky, division head of the neuromuscular and neurometabolic disorders clinic at McMaster Children’s Hospital.
“It has dramatically changed our outlook for families and the hope that we offer the families,” Dr. Tarnopolsky said of the various treatments available. “But to really see a clinical benefit, ideally we’d like to see treatment before six weeks of age in the presymptomatic phase. … You can’t reverse the nerves that you’ve lost. All you can do is hold onto the ones that you have.”
There are a number of hurdles to building robust newborn screening for this disease, according to Dr. Tarnopolsky. Provinces need experienced clinicians and genetic counsellors, genetics laboratories with the ability to provide rapid, accurate genetic testing at high volume, as well as follow-up and treatment for children.
Aside from timely screening and diagnosis, another barrier for families is financial: The gene therapy Zolgensma costs approximately $2.9-million for a one-time treatment. While Ontario and Alberta have reimbursed several families, making considerations on a case-by-case basis, other families are left hoping their insurance will cover the expensive treatment. Some are left crowdsourcing funds for their sick children, including the parents of baby Madison in Shipshaw, Que. Unable to secure provincial coverage for gene therapy this summer, the family has started a GoFundMe page for Madison, who is now experiencing paralysis, according to her mother Alexandra Tremblay.
“There are families that are raising dollar by dollar for this. It’s devastating,” Dr. Osman said. “We’ve had families say, ‘What if I was in Ontario? What would my child’s life look like?’ In Canada, that should not be a discussion.”
There are hopeful developments for Mason and his family in Saskatchewan. After two courses of Spinraza this August, the infant received the gene therapy Zolgensma at Jim Pattison Children’s Hospital in Saskatoon on Sept. 2. The treatment, delivered through an IV, took about an hour. The family was fortunate to receive coverage for the costly procedure through their insurance.
With Mason treated early, before three months of age, the family is now working on his head control, then sitting, and later standing. “The ultimate goal is to see him walk one day. Time will truly tell but at least these are opportunities that may now present themselves,” Ms. Williamson said.
Before the advent of these treatments, “It would have been about trying to keep him comfortable and making the most of the time you have, which would be less than two years,” the mother said. “This is the best chance that he has at life.”
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