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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. A research project by Drs. MacKenzie and Chakraborty at CHEO and Newborn Screening Ontario was supported by Biogen, and this work was essential to the successful implementation of SMA newborn screening in Ontario. 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.”
Other quotes
“The Newborn Screening Ontario labs here at CHEO, working alongside other CHEO clinicians and scientists, have demonstrated the power of combining compassionate clinical care and cutting-edge research: making it possible for children like Aidan to live their best life and have a different future.”
—Alex Munter, CEO and President, CHEO
"This is a great example of how research discoveries drive innovation and patient care. To be able to witness the impact that life-changing research can have on families in our community is incredibly humbling and rewarding."
—Dr. Jason Berman, CEO and Scientific Director of the CHEO Research Institute and Vice President Research at CHEO
“This is proud day for donors to CHEO. Their support has enabled CHEO researchers to help identify the gene causing SMA and supported doctors in making life-altering interventions and therapies to put children on a path to good health. They are truly saving and changing lives in ways that were previously not possible.”
—Kevin Keohane, President and CEO, CHEO Foundation
“With the arrival of effective disease-modifying SMA therapy, we are now looking at early pre-symptomatic diagnosis of newborns for whom such treatment can truly make a profound difference. We are grateful to Biogen for seeing this reality so clearly, supporting our research, and catalyzing the possibility of population-wide SMA screening for all Canadian newborns.”
—Dr. Alex MacKenzie, pediatrician at CHEO, senior scientist at the CHEO Research Institute, and professor of Medicine at the University of Ottawa
Resources for media
Video (consented for use in related stories by news media):
Photos (consented for use in related stories by news media):
- Photos submitted by family: password is SMA
- Family photos by CHEO: password is Aidan
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Media contact
media@cheo.on.ca
About CHEO
Dedicated to the best life for every child and youth, CHEO is a global leader in pediatric health care and research. Based in Ottawa, CHEO includes a hospital, children’s treatment centre, school and research institute, with satellite services located throughout Eastern Ontario. CHEO provides excellence in complex pediatric care, research and education. We are committed to partnering with families and the community to provide exceptional care — where, when and how it’s needed. CHEO is a founding member of Kids Health Alliance, a network of partners working to create a high quality, standardized and coordinated approach to pediatric health care that is centred around children, youth and their families. Every year, CHEO helps more than 500,000 children and youth from Eastern Ontario, western Quebec, Nunavut and Northern Ontario.
About Newborn Screening Ontario
Newborn Screening Ontario (NSO), located at the Children’s Hospital of Eastern Ontario, is the provincial program that coordinates life-saving screening for all newborns in Ontario. Using a small amount of blood collected from newborns shortly after birth, NSO screens for more than 25 serious diseases, including metabolic diseases, endocrine diseases, Sickle Cell Disease, Cystic Fibrosis, Severe Combined Immune Deficiency, and Spinal Muscular Atrophy. NSO also oversees bedside screening for Critical Congenital Heart Disease to support quality, consistency and access for all babies in Ontario. These diseases share a common theme: early diagnosis is the key to effective treatment. NSO strives to ensure that every newborn receives the highest quality screening and care for serious diseases and is a global leader in screening through research, development, education and innovation. Since NSO was established at CHEO in 2006, it has screened over 2 million babies and identified more than 2,500 babies who have been diagnosed with diseases through newborn screening.