Emma Grace suffers from a rare genetic disorder called Canavan Disease.
Emma Grace is 14 months old and our only child. She was born at Vernon Jubilee Hospital May 23, 2012. As new parents, we were excited and nervous about starting our family. Around four months old we noticed that Emma was not meeting developmental milestones such as lifting her head, rolling over, responding to our attention. As any other parent, we thought Emma was just delayed in her development but would eventually catch up. At six months old we took Emma to her routine check-up with our family doctor. At that appointment our family physician referred us to a pediatrician in Vernon, BC. The pediatrician then referred us to BC Children’s Hospital, and after numerous tests we were given the diagnosis of Canavan Disease.
Canavan Disease is an inherited disorder that causes progressive degenerative damage to nerve cells in the brain. The signs and symptoms of this disease usually begin in early infancy. Infants with Canavan Disease typically appear normal for the first few months of life.
Emma is unable to turn over, control her head movement and sit without support. She also has weak muscle tone (hypotonia), an unusually large head size (macrocephaly), abnormal posture and intellectual disability. She has feeding and swallowing difficulties which require her to have a G tube. Seizures and sleep disturbances have also developed.
Emma cannot crawl, walk, sit or talk. Emma has Cortical Visual Impairment making it difficult for her to process what she is seeing, and Sensorineural hearing loss, making it difficult for her to process what she is hearing. She also has a slight hearing deficit in one ear. Emma may also become paralyzed.
Only when both parents are carriers is there ever the risk or chance of having a child with Canavan Disease. It was not until after Emma was diagnosed we learned that we are both carriers of this disease.
At the present time there is no cure for Canavan Disease and the life expectancy for a child born with this is 4 to 10 years. Treatment is symptomatic and supportive.
Our dream was to open a family owned and operated restaurant. We fulfilled that dream when we opened Tucker’s Restaurant, located in Armstrong BC, June of 2011. Opening any business takes a lot of time and financial stress. We are currently hoping to purchase a wheelchair van to safely transport Emma to and from appointments. Due to financial feasibility we are unable to purchase this vehicle. The financial stress, emotional stress and the medical needs of our daughter have overwhelmed us and we are asking for help.