Rachel was in her third trimester when the care team at her local hospital discovered her unborn baby wasn’t growing as expected. “At 37 weeks, Fiona was born, and within 48 hours, we were back at our local emergency room. She wouldn’t eat. She was just so lethargic.”
At just eight days old, Fiona was airlifted from New Brunswick to the IWK and admitted to the Neonatal Intensive Care Unit. “That was our introduction to the IWK,” Rachel said. “We had no idea it would become such a big part of our lives.”
Over time, Fiona began having seizures and developmental delays. While extensive testing offered some clues, there are still no definitive answers as to why she has health challenges. She’s followed closely by several teams at the IWK, including Neurology, the Ear, Nose and Throat (ENT) Clinic, and the Chest Clinic. Over the years, she’s had multiple surgeries and hospital stays, often needing care during something as routine as a cold.
“She’s still undiagnosed,” Rachel says. “The genetics team at the IWK found a variant on the HECW2 gene, but it’s not definitive. She’s our unicorn—beautiful and rare.”
The HECW2 gene is important for brain activity and mutations in this gene are associated with neurodevelopmental disorders, hypotonia, seizures, and language issues.
Though Fiona’s needs are complex, her family is surrounded by lots of support. “Fiona has a lot of needs, and it’s not just a simple fix,” Rachel explained. “Sometimes several different doctors try to work together to figure out what’s going on. They really take a team approach to make her well.”
Fiona is followed closely by the Pediatric Advanced Care Team (PACT) at the IWK. “PACT has been really great with making sure the choices we make are for Fiona’s well-being and for her future,” shared Rachel. “They help with decision-making and knowing what’s best for a child with complex needs.”
Recently, the genetics team at IWK introduced the family to Care4Rare, a collaborative team of clinicians, scientists, and researchers focused on improving the diagnostic care of Rare Genetic Disease patients in Canada and around the world.
The family focuses on keeping Fiona safe and comfortable—frequent hospital stays, seizure medications, and emergency airlifts to the IWK are a part of their life. “I truly believe the IWK has saved our daughter’s life several times,” Rachel says. “Without them, Fiona wouldn’t be here.”
Fiona’s younger sister, Ivy, is her biggest cheerleader and always ready to help. When she’s feeling well, Fiona attends school and is cared for by her grandmother, Connie, with whom she shares a very special bond. Fiona is content, has a big, beautiful smile, and loves to swing outside and feel the wind on her face.
And through it all, the team at IWK has been a constant. “They work together; they really care, and we know she’s in the best hands,” Rachel shares.
The IWK is more than a hospital for Fiona’s family; it’s a lifeline, a second home, and a source of hope.
