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

West Shore RCMP is seeking information about a collision involving a car and a bicycle on Six Mile Road, near the Island Highway, at 11:30 a.m. on April 7. (Black Press Media file photo)
West Shore RCMP seeks information about collision between bike, car

Collision occured on Six Mile Road on April 7 and a bystander got the blue car’s plate number

West Shore RCMP arrested a 42-year-old man April 11 following numerous reports of someone firing a rifle in a Malahat campground. (Courtesy of West Shore RCMP)
West Shore RCMP arrest man after shots fired at Malahat campground

Police received numerous reports of a man firing a rifle outside his camper trailer

A vehicle that was driven through the wall of a parkade at Uptown Shopping Centre and into the nearby Walmart on April 9 was removed through another hole in the wall later that night. (Photo via Saanich Police Department and Ayush Kakkar)
Driver who crashed into Uptown Walmart likely suffering mental health crisis, police say

Man in his early 20s drove through a parkade wall, no serious injuries reported

A portion of West Coast Road in Sooke is closed as emergency services are currently responding to a “serious incident.” Photo courtesy of Google Maps.
West Coast Road is closed between Grant Road West and Otter Point Road

A portion of West Coast Road in Sooke is closed as emergency services are currently on scene

Oak Bay Police. (Black Press File Photo)
Driver caught accelerating to twice the speed limit through Oak Bay school zone

Officers also responded to impaired drivers and multiple thefts last week

Burnaby MLA Raj Chouhan presides as Speaker of the B.C. legislature, which opened it spring session April 12 with a speech from the throne. THE CANADIAN PRESS
B.C. NDP promises more health care spending, business support in 2021 budget

John Horgan government to ‘carefully return to balanced budgets’

Flow Academy is not accepting membership applications from anybody who has received a dose of the vaccine, according to a password-protected membership application form. (Submitted image)
B.C. martial arts gym refusing patrons who have been vaccinated, wear masks

Interior Health has already issued a ticket to Flow Academy for non-compliance with public health orders

Guinevere, lovingly referred to by Jackee Sullivan and her family as Gwenny, is in need of a gynecological surgery. The family is raising money to help offset the cost of the procedure. (Jackee Sullivan/Special to Langley Advance Times)
Langley lizard’s owners raise funds for gynecological surgery

The young reptile is scheduled for operation on Tuesday

Facebook screenshot of the sea lion on Holberg Road. (Greg Clarke Facebook video)
VIDEO: Sea lion randomly spotted on remote B.C. logging road

Greg Clarke was driving home on the Holberg Road April 12, when he saw a large sea lion.

Defence counsel for the accused entered two not guilty pleas by phone to Grand Forks Provincial Court Tuesday, Jan. 12. File photo
B.C. seafood company owner fined $25K for eating receipt, obstructing DFO inspection

Richmond company Tenshi Seafood is facing $75,000 in fines as decided March 4 by a provincial court judge

B.C. Finance Minister Selina Robinson speaks in the B.C. legislature, March 2, 2021. (Hansard TV)
B.C. NDP ministers defend ‘air tax,’ latest COVID-19 business aid

Empty home tax doesn’t apply to businesses, but space above them

In Ontario, COVID-19 vaccine clinics have been set up at local mosques. (Submitted photo: Rufaida Mohammed)
Getting the vaccine does not break your fast, says Muslim COVID-19 task force

Muslim community ‘strongly’ encouraging people to get their shot, whether or not during Ramadan

A plane is seen through the window on the tarmac of Vancouver International Airport as the waiting room is empty. THE CANADIAN PRESS/Jonathan Hayward
100+ international travellers who landed in B.C. refused to quarantine

The Public Health Agency of Canada says it issued $3,000 violation tickets to each

A health-care worker holds up a vial of the AstraZeneca Covishield vaccine at a COVID-19 vaccination clinic in Montreal, Thursday, March 18, 2021. THE CANADIAN PRESS/Paul Chiasson
PHAC receives first report of blood clot linked to AstraZeneca

The federal agency says the person is now recovering at home

Most Read