Ten-month-old Aidan Deschamps poses for a photo with his parents Amanda Sully and Adam Deschamps in this undated handout photo. Ten-month-old Aidan Deschamps was the first baby in Canada to be diagnosed with spinal muscular atrophy through Ontario’s newborn screening program. The test was added to the program six days before he was born. THE CANADIAN PRESS/HO, Children’s Hospital Eastern Ontario *MANDATORY CREDIT*

Ten-month-old Aidan Deschamps poses for a photo with his parents Amanda Sully and Adam Deschamps in this undated handout photo. Ten-month-old Aidan Deschamps was the first baby in Canada to be diagnosed with spinal muscular atrophy through Ontario’s newborn screening program. The test was added to the program six days before he was born. THE CANADIAN PRESS/HO, Children’s Hospital Eastern Ontario *MANDATORY CREDIT*

First newborn tested for spinal muscular atrophy in Canada hits new milestones

‘If Aidan had been born any earlier or anywhere else our story would be quite different’

Amanda Sully had tried to get pregnant for six years, but she’s grateful that her “miracle” son arrived six days after Ontario became the only province to start a newborn screening test that revealed he had a progressive and irreversible disease.

In January, Aidan Deschamps became the first baby in Canada to be diagnosed with spinal muscular atrophy as part of a new test added to Ontario’s newborn screening program.

Sully said she and her husband, Adam Deschamps, were surprised to get a call from Newborn Screening Ontario advising them that their son, who was 10 days old at the time, had tested positive for the genetic neuromuscular condition, which is the most common cause of death in childhood due to an inherited condition.

“If Aidan had been born any earlier or anywhere else our story would be quite different,” Sully said Wednesday on a Zoom call from the family’s home in Ottawa as Aidan squeezed out of his mom’s arms before his dad took over and tried to keep up with the energetic child.

“As terrible as the news was we were so fortunate to find out early because delaying treatment would have meant long-term irreversible consequences for him,” Sully said.

Sully said she was initially worried that her baby may not be able to roll over if he had the illness, but at 10 months, Aidan is healthy and quite the dancer who loves to throw and chase balls after starting early treatment.

The couple had never heard of spinal muscular atrophy but the morning after the call they were in the office of Dr. Hugh McMillan, a neurologist at Children’s Hospital of Eastern Ontario, a pediatric health and research centre based in Ottawa.

Adam Deschamps said he and his wife held their breath a few days later as their little boy was given an injection of the drug Spinraza just below his spinal cord. The first medication to treat children with spinal muscular atrophy administered through repeated spinal taps was approved by Health Canada in 2017.

McMillan said the drug, which is paid for to varying degrees in different provinces, increases the amount of an essential protein in order to keep motor neurons and motor nerves alive and without it the progression of the disease is irreversible.

He also applied for and was granted use of a gene replacement therapy on compassionate grounds for Aidan when the boy was five weeks.

The one-time intravenous treatment worth millions of dollars is one of two medications that Health Canada is considering for approval, with an announcement expected in the coming weeks, said McMillan, who is also a clinical investigator at the CHEO Research Institute.

It’s too early to tell what the little boy’s future holds but he is meeting all of his developmental milestones, McMillan said.

Dr. Pranesh Chakraborty, chief medical officer of Newborn Screening Ontario, said the province started the program, which tests for 28 conditions, in 1965 and includes all babies born in Ontario and most of Nunavut.

Chakraborty said each province decides on its own whether to screen for certain conditions but the cost for the test that helped Aidan was low because Ontario already had the technology to add it to its existing program.

“I can say from speaking with my colleagues across the country that every province is looking at this and we’re hoping that they’ll be making decisions soon,” he said.

The severity of spinal muscular atrophy depends on when symptoms appear and some children may start showing signs early on when they cannot roll over.

British Columbia’s newborn screening program tests for 24 disorders, a spokeswoman at the Provincial Health Authority said.

The provincial Health Ministry did not respond to requests on whether it would include testing for spinal muscular atrophy as part of its newborn screening program.

Susi Vander Wyk, executive director of Cure SMA Canada, said the organization is working to get all provinces to test for the condition and that Aidan’s story based on Ontario’s lead should compel all jurisdictions to act.

The Canadian Press

Like us on Facebook and follow us on Twitter.

Want to support local journalism? Make a donation here.

Health

Get local stories you won't find anywhere else right to your inbox.
Sign up here

Just Posted

Amber Piché is the new export navigator advisor for the Thompson-Okanagan region. (Photo contributed)
Exporting possible for Okanagan businesses

Provincial Export Navigator program supports entrepreneurs with free advice from export specialists

Archway Society for Domestic Peace is offering a new fundraiser in support of victims of domestic violence ahead of Valentine’s Day 2021. (Contributed)
Need a Valentine’s Day gift? Vernon’s Archway Society has you covered

Local transition house launches new fundraiser in support of domestic violence victims

Vernon’s Barb and Denis Murdoch, pictured at Lake Louise in 1987, will be inducted into the builder category of the B.C. Volleyball Hall of Fame, Class of 2021, on Feb. 15. (Murdoch family photo)
Vernon volleyball couple earn Hall of Fame call

Denis and Barb Murdoch will be inducted into B.C. Volleyball Hall of Fame in builder category

(File)
Overwhelming support for Vernon businesses this holiday season: Chamber

Vernon chamber urges shoppers to keep dollars local amid pandemic with #voteVernon campaign

Vernon Fire Rescue Services responded to reports of a structure fire on Valleyview Place Jan. 26, 2021. (Brendan Shykora - Vernon Morning Star)
Fire snuffed in Vernon home

No visible smoke, flames from area of reported structure fire

Dr. Penny Ballem, a former deputy health minister, discusses her role in leading B.C.’s COVID-19 vaccination program, at the B.C. legislature, Jan. 22, 2021. (B.C. government)
B.C. holds steady with 407 new COVID-19 cases Tuesday

14 deaths, no new outbreaks in the health care system

This 2020 electron microscope image provided by the National Institute of Allergy and Infectious Diseases - Rocky Mountain Laboratories shows SARS-CoV-2 virus particles which cause COVID-19, isolated from a patient in the U.S., emerging from the surface of cells cultured in a lab. THE CANADIAN PRESS/AP, NIAID-RML
B.C. ramping up screening for faster-spreading COVID-19 ‘variants of concern’

B.C. has sequenced about 11,000 COVID-positive samples since last February

A Cessna 170 airplane similar to the one pictured above is reported to be missing off the waters between Victoria and Washington State. Twitter photo/USCG
Canadian, American rescue crews searching for missing aircraft in waters near Victoria

The search is centered around the waters northeast of Port Angeles

Kevin Lee Barrett pleaded guilty to the aggravated assault of his mother Eleanor Holmes on Tuesday, Jan. 26. (File)
West Kelowna man who beat his mom could be sentenced up to 9 years

Kevin Barrett entered a surprise guilty plea to the lesser charge of aggravated assault on Tuesday morning

Interior Health reported two more COVID-19 deaths at Sunnybank Retirement Center in Oliver Tuesday, Jan. 26, 2021. (File photo)
COVID-19 claims lives of two more South Okanagan care home residents

Five residents of the Oliver care home have died since the outbreak was first declared

Keygan Power with brother Quintin and mom Allison while camping the weekend before Keygan’s brain hemorrhage on Aug. 2, 2020. (Photo Allison Power)
B.C. teen ‘locked inside,’ battling to regain speech after severe brain bleed

16-year-old suffers traumatic loss of function, still plays a mean game of chess

11 more cases of COVID-19 have been linked to a cluster on Big White Mountain. Pictured above is TELUS park at Big White Ski Resort, Jan. 26. (Big White Ski Resort)
11 more cases of COVID-19 linked to Big White cluster

This brings the total case count to 225, according to health authorities in a Tuesday update

Jonathon Muzychka and Dean Reber are wanted on Canada-wide warrants. (Courtesy of Victoria Police Department)
Convicted killer, robber at large after failing to return to facility: Victoria police

Dean Reber, 60, and Jonathon Muzychka, 43, may be together

Oliver Elementary School
Former Oliver PAC treasurer charged with fraud returns to court

Belinda Yorke will be in court to fix a date for trial in February

Most Read