Ellis was only 15 days old when she was referred by the team at her local hospital in Prince Edward Island to the IWK’s Orthopaedic Clinic. She was born with dislocated hips and needed to be placed in a Pavlik (PAV-lick) harness, a soft brace to help gently position them correctly.
Unfortunately, the Pavlik harness didn’t help because Ellis didn’t have enough muscle strength to kick her legs – something a baby should still be able to do while in the harness. This was an indication that something else was wrong. And for Ellis and her family, this was just the beginning of her medical journey and the specialized care she would need from the IWK.
Ellis also had other orthopedic-related conditions, such as vertical talus (a rare foot deformity) and scoliosis (a curved spine). She had to undergo many tests, such as muscle biopsies, CT scans, MRIs and x-rays, and many procedures.
Because Ellis’ symptoms were so rare, her care team couldn’t pinpoint the cause of her orthopedic conditions. They referred her for genetic testing at the IWK. The testing would look for changes or mutations in her DNA, which could help explain her medical issues.
Ellis’ genetic testing results gave her care team and parents, Lori and Trent, the long-awaited answers they needed.
Ellis has RYR-1 myopathy, a rare and inherited muscle disease that can present a wide range of symptoms, such as muscle weakness, muscle cramping and pain, and a severe reaction to certain drugs used for anesthesia. Unfortunately, there is no cure.
Although the diagnosis was difficult for Lori and Trent, they found relief when they learned RYR-1 myopathy was not life-threatening and that Ellis could still have an average lifespan. “That was the biggest hallelujah moment for me,” says Lori.
In 2021, Ellis had MAGEC growing rods placed in her back to help treat her scoliosis. She has the adjustable rods lengthened at the IWK every six weeks and is part of a study to see how children do with being lengthened by the MAGEC rods. While she requires a wheelchair to get around, she doesn’t let that slow her down!
Ellis, now eight years old, is very well-adjusted and thriving. She is in Girl Guides and plays Challenger Baseball, an inclusive program for children with disabilities. She also enjoys playing video games, spending time with her friends and watching her two older brothers, Nolan and Jonah, play sports.
For Lori and Trent, the IWK is a lifeline for their family. “Because we have a child with complex needs, having the IWK close to home is crucial for us,” says Lori. “If we didn’t have the support of the IWK, we’d be travelling so much further, or we’d have to move to be closer to a children’s hospital. So, supporting the IWK enables our child to grow and thrive.”
