A Nova Scotia teenager who lives with Type 2 spinal muscular atrophy, and has become an advocate for the rare condition, says new screening at the IWK hospital will make a big difference for families.
Van Bernard, 17, says when he was born, little was known or could be done about his diagnosis.
“Back then, which was 17 years ago, there was no treatment or any cure like medicines,” he said.
“Really we just kind of put up with it, went to every doctor’s appointment we could and tried to live my best life.”
IWK Health Centre, the children’s hospital for the Atlantic region, announced that it will begin taking blood samples from newborns beginning next week to screen for spinal muscular atrophy (SMA) in Nova Scotia, New Brunswick and Prince Edward Island.
Bernard and his mother recall how his SMA was undetected for 10 months after he was born — which was a difficult experience for his family.
“Going through that as a parent is excruciating, when you don’t have any answers,” said his mother, Julie Clegg.
“If SMA newborn screening was available when Van was little, the turmoil and anxiety that we went through in the months that it was suspected that he had spinal muscular atrophy, could essentially be alleviated.”
At the age of 10, Bernard was prescribed Spinraza, a medication that helped to stop the progression of SMA. He says children who are diagnosed now can be optimistic about treatments, which further highlights the importance of early diagnosis.
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“Now there’s new drugs coming out that are getting closer and closer to a complete cure if children get it early enough,” he said.
Dr. Jordan Sheriko, the pediatric rehab services medical director at the IWK, says clinical trials have shown the best results can be achieved when the condition is identified before any signs of symptoms.
“And before we’ve lost most of the motor neuron and the motor nerves that support the muscles’ function, that’s when we see the biggest difference from these therapies,” Sheriko said.
Through the years, Bernard and his family have spoken out about SMA to share more information about the condition.
In 2014, a then-seven-year-old Bernard received a new accessible van after a crowdfunding campaign raised $66,000. A couple of years later, he was one of the first patients in Canada to use a new technology called magnetic controlled growth rods, or MAGEC rods, as a treatment.
In 2019, he was named the IWK Foundation’s Children’s Miracle Network Champion.
Now, he’s celebrating the latest news and what it means for future children.
“Man oh man, when I found out newborn screening for my condition is going to be implemented, not just across the East Coast but all over Canada, (I thought it was) absolutely fantastic,” he said.
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