A Cambridge, Ont. family is hoping a groundbreaking medical treatment could change the future for their young daughter, who is living with an extremely rare genetic disorder with no existing treatment or cure. Kris Dowling and Grant Harding, the parents of two young girls, said their daughter, Rylee, has faced more challenges in her first year of life than most people experience in a lifetime. The 11-month-old was diagnosed with FBXO11-related neurodevelopmental disorder, a condition that affects how the brain processes proteins and can impact development, communication, movement and other daily functions. When Rylee was diagnosed, her parents were told there were fewer than 100 known cases worldwide. “She’s changed our world” Rylee’s parents said their journey began shortly after she was born, when what they expected to be a routine hospital visit for jaundice turned into a medical emergency. Rylee repeatedly stopped breathing and required life-saving interventions before doctors were able to determine what was happening. “It’s impossible to describe how that feels as a parent,” Kris said, recalling the frightening early weeks of Rylee’s life. The family of four spent weeks in hospital while doctors searched for answers. After extensive testing, genetic testing revealed the rare FBXO11 diagnosis. Because so little is known about the condition, Dowling said there is still significant uncertainty about what Rylee’s future will look like. “She’s changed our world,” she said. “But in a way that you comprehend and can somewhat predict.” Despite the challenges, the family said Rylee continues to show resilience and is known for her bright smile. “She is so sweet,” Dowling said. “She’s the chillest baby. We call her smiley Rylee.” Rallying behind Rylee Rylee currently needs oxygen while sleeping and relies on a feeding tube for hydration and nutrition. She attends regular appointments and therapy sessions. Her parents said Rylee has weekly appointments through KidsAbility, including physiotherapy, occupational therapy and speech therapy. She also receives additional physiotherapy through Helio Physiotherapy. The family continues exercises and activities recommended by her therapists during multiple sessions throughout the week, while also attending appointments with her medical teams, including her dietitian, nurse and specialists. “We’re working on rolling still, and trying to sit up independently,” Dowling explained. “Rolling is at two to three months and she’ll be a year soon. We don’t know where, when and if she’ll reach certain things.” Dowling said Rylee’s paediatric neurologist in Waterdown has also played a key role in helping the family navigate the process, including supporting requisitions and next steps as they pursue possible treatment options. “There’s hope” After connecting with specialists and other families affected by rare genetic conditions, the family began exploring whether a personalized gene therapy could be developed for Rylee. Gene therapy works by targeting the underlying genetic issue instead of only treating symptoms. The family said preliminary work is underway to determine whether a treatment could be possible, including creating cell models and studying how Rylee’s specific genetic difference affects her cells. “Now we have teams invested in her gene, there’s hope,” Dowling said. But the process comes with a significant cost. Dowling and Harding estimate developing and delivering the treatment could cost between $2 million and $4.5 million, including research, safety testing, manufacturing and administration. They said the first years of life are especially important for brain development, making time a critical factor. “The sooner we can get her treatment created, tested, approved and manufactured, the more it will affect her,” Dowling said. The family hopes the research could eventually help not only Rylee, but other children around the world living with FBXO11-related disorder. “There’s always something,” Kris said. “It just might not have been done yet. Once that path has been formed and that’s been created, it won’t be as big of a barrier for the other parents in the group globally.” The family launched a fundraiser to help cover the cost of research and are sharing Rylee’s journey online through Rylee’s Road. They say every donation and share helps bring them closer to their goal of creating hope for Rylee and other families facing the same rare diagnosis. “You are going to change the world, Rylee,” her parents said, holding their daughter closely.
