When Susan and Will Doran welcomed their daughter Collyns into the world, they savoured the joy of becoming first-time parents.
But over the last five years, as they’ve dealt with the developmental issues that have since plagued Collyns, their daughter has become a teacher, in a sense, showing them how important it is to take a big-picture view of what’s most important in life.
Collyns was born with metopic craniosynostosis, a condition in which some of the skull bones in an infant are fused prematurely. But she was otherwise healthy, and her first few weeks were normal, Susan recalls.
But when the couple noticed Collyns wasn’t gaining weight as quickly as she might, and she hadn’t hit her developmental milestones at the same rate as her peers, the Dorans grew concerned.
Eventually, the Prince George family was referred to the Provincial Medical Genetics Program where geneticists strongly suspected that Collyns had an underlying genetic condition but were unable to identify a precise diagnosis. It was not until the CAUSES Research Clinic at BC Children’s Hospital was established that a diagnosis could be uncovered.
CAUSES is a comprehensive translational research program supported by BC’s mining industry that provides genome-wide sequencing, clinical evaluation and genetic counselling to families of children dealing with rare and undiagnosed conditions.
Medical geneticist Dr. Lorne Clarke gave them their first hope of finding a diagnosis.
“When Dr. Clarke gave us a bit of an overview of what CAUSES was,” Susan says from Prince George. “We jumped at the chance to be a part of it. Even the slightest bit of information that CAUSES could provide would be awesome and help other people in the same place.”
Last December, the Dorans sat down with Dr. Clarke and the CAUSES project lead Dr. Alison Elliott, via a Telehealth teleconference. That’s when they learned that Collyns has a ‘spelling mistake’ in her ASXL3 gene.
“This gene is an ‘operator/boss’ gene with tells other genes what to do which is why we are seeing delays in so many areas like language, gross motor and fine motor skills. This gene disorder is so rare there are just a handful of other children with this diagnosis in the world,” says Susan.
“At first we were really frustrated as there isn’t really anything known about the other kids with this diagnosis.” Until Collyns’ diagnosis, the Dorans had been dealing with the emotions shared by many parents of children with rare and undiagnosed conditions.
With little support or information, it’s difficult to move forward with a health plan for their child.
“It is hard watching someone’s 11-month-old do things Collyns can’t do at five years old and it is a bit of a grieving process,” Susan reflects.
For many families, getting a diagnosis doesn’t mean a cure, or even a treatment, is near. Rather, it may offer a feeling of relief, and help them plan and prepare for new social and developmental issues they’re sure to confront as their child grows.
The CAUSES Research Clinic provides genome-wide sequending to diagnose rare genetic diseases in children who would otherwise require numerous tests or might not be diagnosed at all.
There are 7,000 known genetic disorders and the CAUSES Research Clinic uses a single genomic test capable of identifying all of these at once. One single test reduces the number of invasive tests required, such as biopsies, biochemical tests, expensive single gene tests or MRI scans, which may require sedation.
“I feel the diagnosis is just another tool for helping Collyns be more successful in her life. Maybe from this we will find better tactics to help Collyns learn. It really isn’t going to change how we feel or treat Collyns,” says Susan. “She is still and always will be the love of our lives.”
The family has overcome those issues with a sense of the bigger picture. They’re able to put themselves in Collyns’s shoes, consider her feelings, mood and behaviour as paramount.
“Our stance has always been, ‘Is Collyns happy, is she healthy, and does she have support?’ And for the most part she is and does.”
Since June, 2015, the CAUSES Clinic has seen 70 families from Vancouver, Courtenay, Prince George, Kelowna and Victoria.