FROM THE DAILY SCAN: RARE DISEASES A HEAVY FINANCIAL, HEALTH BURDEN: CHÉOS RESEARCHER
When the Purcells brought their new baby, Trey, home from the hospital, he was a seemingly healthy newborn. But he quickly began to develop a series of health complications. After several tests, at age two, Trey was diagnosed with Hunter syndrome, a rare, inherited genetic disorder that affects the body’s metabolism. It leads to poor physical and mental development, affects organ function and causes other complications.
While Hunter syndrome is rare, the experience of the Purcells is not so uncommon. Defined by the World Health Organization as any disease that affects less than 1 in 2000 people, there are about 7,000 known rare diseases with more new rare diseases being identified every year. Some estimates suggest that as many as 1 in 12 Canadians may have a rare disease, though many of them will not present with serious symptoms.
“A rare disease is rare, but having a rare disease is not,” explains Dr. Larry Lynd, a CHÉOS Scientist and Director of the Collaboration for Outcomes Research and Evaluation (CORE) at UBC.