Imagine your child has a debilitating medical disorder so rare that physicians are unable to provide a diagnosis or give it a name.
Isabel and Tyler Jordan, a Squamish couple, spent several years asking physicians at BC Children’s Hospital what was wrong with their son Zach.
Why at age four was Zachary the size of a 14-month-old? Why couldn’t he say “momma” until nearly age four? Why did he develop a tumour in his jaw that required a 14-hour surgical reconstruction of his face? Why does his unknown form of dwarfism give him chronic joint pain and migraines?
Medical science had no answers – nor could it predict how Zachary’s disease would progress. “Really we were kind of lost at sea,” says Isabel.
The Jordans tried to find other parents with children battling the same disorder. “I wanted someone to tell me that Zachary was going to be okay, and that this is how they dealt with challenges.”
They could find no one. Zachary’s affliction, the Jordans were told, was one-of-a-kind. Instead of solace, they found social isolation.
Both parents were familiar with success in their lives. Tyler Jordan is a successful entrepreneur and Isabel Jordan has a biology degree and worked as a freelance writer prior to becoming a stay-at-home mother with the two children, Zachary and Evie. Isabel also chairs the Rare Disease Foundation, a non-profit that often works closely with BC Children’s Hospital Foundation on rare-disease-related projects.
“My husband and I are on paper the kind of people well equipped to deal with something like a rare disease,” says Isabel.
There are up to 7,000 diagnosed rare diseases and many more undiagnosed disorders. Rare diseases are disorders affecting fewer than one in 2,000 people. “In terms of patients, one in 12 people will have a rare disease in their lifetime,” says Dr. Millan Patel, a BC Children’s medical geneticist. “So it’s not uncommon in aggregate. But each individual one is very uncommon.”
The CAUSES Clinic will be established to provide support for rare disease patients and family members, and to spur treatment-based research. It will provide families with extensive genetic counselling, detailed interpretations of testing results, and personalized plans for treatment.
The challenge for rare disease research and treatment is that provincial health agencies and the pharmaceutical industry are geared toward dealing with identifiable and common diseases such as cancer or heart disease. People who do not have a specific diagnosis, such as Zachary, can be denied access to essential medical services.
In the first three years of its inception, the CAUSES Clinic is expected to test at least 500 children to detect genetic disorders that may have gone undiagnosed, and offer support to their family members. The new clinic will also help to reduce the number of invasive tests required to diagnose these conditions. This will lead to a significant reduction in medical costs to both families and the health-care system.
Isabel Crawford says she’s enthusiastic about what the CAUSES clinic can do.
“I think it has the potential to find answers for families like mine.”
Zachary is now in Grade 8, loves the video game Minecraft, enjoys taekwondo and sailing, and has a close group of friends at school. He gets good marks and dreams of becoming a marine biologist. He has the height of an average eight-year-old because of his unidentified form of dwarfism, and he’s unable to smile on the right side of his face because of the earlier surgery.
“Zach suffers through pain and things I wouldn’t wish for him,” says Isabel. “But if we can take that and make something good out of it, then at least it’s not meaningless. I am not much for fate but I am for wrestling meaning from it if you have to.”