‘Rare’ diseases affect 1 in 3 patients at BC Children’s Hospital
GENOME SEQUENCING COULD END THE ‘DIAGNOSTIC ODYSSEY’ FACED BY KIDS WITH RARE DISEASES
Hours after she was born in Penticton in May 2015, Charlotte Palmer was flown to BC Children’s Hospital and went on to endure months of infections and breathing problems. She was finally able to go home just before Christmas. However, her medical journey was just beginning.
One day in early 2016, she stopped breathing. Charlotte’s mom, Christina, resuscitated her and called 911, and she was flown to BC Children’s anew. She was found to have a disorder that results in respiratory arrest. Yet Charlotte continued to face all sorts of other ailments, her situation all the more troubling given that test after test failed to pinpoint the cause of her condition.
That finally changed last summer, after the BC Children’s Hospital Research Institute examined Charlotte’s genes. A test called Whole Exome Sequencing revealed a mutation in the SAMD9 gene that is linked to an extremely rare genetic disease called MIRAGE Syndrome.
Charlotte was the first child in Canada to be diagnosed and is one of 20 kids known to have the syndrome around the world. Although the news was daunting, it has given the family some sense of direction.
“It means we can try to come up with a plan,” Christina says. “We’re in touch with other families throughout the world, so there is a network. Maybe we can look at treatment options that have been working for other families. Children with rare diseases typically go from subspecialist to subspecialist and have to withstand multiple tests, many of them uncomfortable, before eventually getting a sense of what they’re dealing with.
Dr. Stuart Turvey, director of clinical research at BC Children’s Hospital, says this process is called a “diagnostic odyssey”. It’s one that can understandably cause a deal of stress and anguish for families. Being able to name the illness that their child is facing is a turning point.
“New technology, particularly genome sequencing, allows us to make diagnoses for these kids,” Turvey says. “It opens the doors to treatment that targets their specific problem and allows us to deliver personalized, precision medicine. It also allows us understand the risk to other children in the family.
“Research and clinical care go hand and hand,” he adds. “They’re not separate entities. Having them connected allows us to treat these children and provide excellent care.”
As the only specialized pediatric centre in the province, BC Children’s Hospital is a “second home” to Charlotte.
“My husband and I always like to bring up the importance of research and funding for research. Without research, we wouldn’t have a diagnosis for Charlotte.
“There are so many different rare diseases out there,” she adds. “They’re more common than you’d think.”
In fact, about one in three children admitted to BC Children’s has a rare disease.
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