Angela and Mike Wilson realized their son, Griffin, was different from most when he was around two years old.
Griffin didn’t achieve life’s usual milestones, like talking or walking, the same way the Wilsons’ other sons did. Low muscle tone inhibited his speech and affected his balance, preventing him from walking with a normal gait. He also had difficulty eating and developed facial features that made him look different from other members of his family; Griffin’s head was abnormally small and his eyes sloped downward. Though the young boy underwent a series of genetic tests, over the next few years, his doctors were no closer to finding out what was wrong with him.
By the time Griffin entered kindergarten, both his physical and intellectual development were significantly delayed. He still couldn’t talk, and his parents didn’t know why. It wasn’t until their doctor told them about the CAUSES research clinic, a new initiative supported by BC Children’s Hospital, that they finally began to understand what was going on with their youngest son.
CAUSES’ researchers use a single DNA test to help diagnose more than 7,000 known rare genetic disorders. The genomes of children with undiagnosed illnesses and their parents are sequenced in one test, effectively reducing the number of invasive procedures – such as biopsies, biochemical tests and MRI scans – they may otherwise have to endure. More than 100 families from across British Columbia have participated since the research clinic opened its doors in June 2015, with a total of 500 participating over the next two years.
For many children, participating in the CAUSES research clinic will be a life-changing experience. All families receive genetic counselling, clinical interpretation and personalized treatment options (when a causal diagnosis is made). The sooner a child has access to the right treatment, the more likely that child will be able to resume an active, healthy life.
Through the CAUSES research clinic, Griffin was diagnosed with Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia. Though the rare developmental illness affects many areas of the body, it’s mostly characterized by dysmorphic facial features, skeletal abnormalities and stunted growth. Patients also have a greater risk of developing cardiac disease and malignancy.
Angela says finally knowing what Griffin’s condition came as a huge relief.
“When [the doctors] said he was prone to leukemia and may have trouble fighting cancer tumours, my heart sank,” recalls Angela. “But I felt better once I realized that now we know we can be proactive with his treatments.”
Today, six-year-old Griffin is a gentle, happy little soul. Angela describes him as a smiley, cuddly child who likes books and building toys. He has many friends and is learning sign language to communicate.
Griffin will continue to be monitored by BC Children’s Hospital for many years to come and while his future remains uncertain, his parents are grateful for the knowledge the CAUSES research clinic has given them.
“My family is so appreciative of this research project as it has impacted our lives in such a strong, positive way,” says Angela. “I would love to thank each and every one involved.”