First baby in Canada identified with SMA using newborn screening: given early treatment, ‘loves to move’
Dec. 2, 2020—OTTAWA— When Newborn Screening Ontario diagnosed spinal muscular atrophy (SMA) in Aidan Deschamps’ bloodspot, he became the first baby in Canada identified with the genetic, neuromuscular condition through a provincial newborn screening program.
Just six days before his birth, Newborn Screening Ontario (based at CHEO) started testing for SMA using the heel-prick test obtained from babies born anywhere in the province. This means infants are diagnosed within days of birth, so treatment can start as soon as possible.
During a virtual news conference today, the family gave us a peek into how Aidan is doing and what the early identification of his SMA has meant for them.
Their journey started when Aidan was 10 days old and his parents, Amanda Sully and Adam Deschamps, received a call from Newborn Screening Ontario. Aside from just getting over jaundice, which is fairly common in newborns, Aidan was doing well. So, the call was a surprise.
“They told us Aidan had screened positive for spinal muscular atrophy and had scheduled an appointment for us with Dr. Hugh McMillan, a neurologist at CHEO,” said Amanda. “We had no idea what SMA was and what it might mean for our family.”
SMA is a debilitating and potentially deadly neuromuscular disease. While officially considered a rare disease, affecting 1 in 10,000, it is the most common cause of inherited death in childhood. Children with the most severe infantile form rarely live beyond their second birthday if left untreated. Symptoms arise in these most severe cases before six months of age.
Until recently, there were no therapies for SMA. But now there are, which paved the way for the genetic condition to be added to Ontario’s newborn screening program.
“When I started at CHEO in 2010, we had nothing that could treat SMA,” said Dr. Hugh McMillan, a pediatric neurologist at CHEO, clinical investigator at the CHEO Research Institute and associate professor at the University of Ottawa. “We managed symptoms as best we could to give children their best lives possible. Now, we actually have options for treatment and more therapies are on the near horizon. It’s very exciting. Being able to significantly improve the lives of kids like Aidan is unbelievably rewarding, as a physician and a researcher.”
Significant and early research on SMA was done by CHEO researchers, led by Dr. Alex MacKenzie, who discovered a gene called NAIP, which may contribute to the severity of the disease. In addition, Dr. McMillan was a clinical investigator for one of the therapies now available.
One therapy is called Spinraza, which is a therapy that corrects how the faulty gene produces certain proteins. It is approved in Canada and available in Ontario. It requires ongoing treatments throughout the person’s life. The second is a gene replacement therapy called Zolgensma, which is approved in the U.S. but not Canada and has been made available through the pharmaceutical company’s managed access program. It only needs to be given once.
“The neurological damage caused by the most severe forms of SMA starts very early in life and once the damage has occurred, it can’t be reversed. So the sooner a child with SMA accesses therapies, the better they do. This is why newborn screening is so important,” said Dr. Pranesh Chakraborty, Chief Medical Officer of Newborn Screening Ontario. “It helps us find babies with SMA as early as possible.”
Aidan was quickly started on Spinraza at the age of three weeks before being granted access to and given Zolgensma when he was five weeks old.
“Because Aidan was treated before he had any symptoms of the disease, we can’t say for certain what the severity of his disease would have been. The very real hope is that Aidan has been treated early enough to maximize his developmental potential,” added Dr. McMillan.
And what does this all mean, today, for Aidan and his family?
“We are overjoyed to report that Aidan is meeting all of his milestones,” said Amanda. “He’s such a happy little person and he truly loves to move! We are aware that nothing is certain about Aidan’s future but we are beyond grateful to everyone who helped give Aidan the greatest chance possible to live his best life. He means the world to us.”