14-year-old Owen lives with his mom, dad and big sister, Mia. He likes reading bedtime stories, going for drives in the car, watching wrestling with his dad, and dancing, baking and snuggling on the couch with his mom. Like a typical little brother, he also loves to torment his sister. However, Owen is the furthest thing from being typical. He is extremely flexible (physically) and has an amazing memory for things he cares about, like the lyrics to a song he likes after hearing it once. At 15 months of age, Owen was also diagnosed as the 120th person in the world to have Kleefstra Syndrome, a microdeletion at 9q34.3.
Kleefstra Syndrome is a rare genetic condition that affects development and involves many body systems. Owen was not meeting milestones as a baby which was initially believed to be due to his being born 6 weeks early. However, it soon became obvious to his parents that his collection of symptoms may have a genetic basis. His nasal bridge was shortened, he had very low tone and was not gaining weight due to feeding and swallowing issues so was referred to a gastrointestinal health clinic. He underwent local testing and results came back as unremarkable. His parents decided to have him do a test in the U.S. that looks for gene changes in cells called FISH testing (fluorescence in situ hybridisation). At the time, this test was not available in Canada and required extensive paperwork and approvals. In November 2010, months after being tested, they were told about his deletion and in April of that year, the deletion had been named Kleefstra Syndrome after the researcher studying the syndrome in Holland. As the years went on, Owen would also receive additional diagnoses of autism spectrum disorder (ASD), epilepsy, global developmental delay (GDD) and taxic cerebral palsy, which affects his balance and coordination.
Grandview Kids became a big part of Owen and his family’s life soon after diagnosis. He has accessed vital services for his development and well-being, including medical, physiotherapy, occupational therapy, speech-language pathology, recreational therapy, social work and family engagement. Grandview Kids helped build a community of support, which, without it, his family would have been lost. The immense family support they received equipped Owen’s family to better support him to be the best he can be. What stands out the most over the last 14 years is that Grandview Kids staff did not lower their expectations for Owen despite the scant research and expectation that he may not talk or walk. In fact, they would help him overcome these challenges and prove to the world that he is more than his diagnosis.
Owen’s sister once said it best: “He just needs extra help.” He does things his own way and in his own time. A notable moment is when he took his first steps at Grandview Kids. He was participating in a docuseries with Durham News so his physiotherapy session happened to be both recorded and photographed. They now have this special moment and mom’s reaction recorded to look back on with fond memory. When Owen said, “I love you” for the first time one late evening, his mom’s first course of action was to call his speech-language pathologist. Being able to share in the joy of another achievement was possible thanks to Grandview Kids’ family-centred focus. Owen’s parents remain steadfast advocates for Owen, and along the way, began paving the path of advocacy for other Grandview Kids families. They know the journey is difficult and instead of walking along it in isolation, they have linked arms with other families, rallying together to help every child and youth live life at their full potential.
Owen’s diagnosis of Kleefstra Syndrome opened a new world and way of life for his family. 14 years of Owen and they have learned a few things. If they could go back to diagnosis day knowing what they know now, they would advise themselves to, “Hold on! Seriously, just let him lead and follow his direction. Nothing changed on diagnosis day. He is still the exact same kid; we just got more information.” His diagnosis is rare, but his wonderful uniqueness belongs to him.