feature story
Unmasking a Genetic Mystery The loss of a child exposes a threat to her family. by REBECCA KEILLOR Nothing could have prepared Jan Coddington for the phone call she received from her eight-year-old daughter Sally’s school in June 2008. “I got a call saying meet the ambulance at the hospital,” Jan recalls. Sally had collapsed and lost consciousness while waiting for her turn on the playground swings, and though resuscitation was started immediately, she died on site. Aside from being treated for a concussion three weeks earlier, after falling over while playing soccer, Sally had no known medical conditions. Her death was classified as an unexpected death in childhood, and remained a mystery, until a recommendation on her autopsy report helped unveil much more than the cause of her death. “We made the suggestion about screening for Long QT because we know that in our population as many as 10 per cent of cases of unexpected death in childhood are going to be the 8 speaking of children summer 2012
result of one of these familial arrhythmias,” says Dr. Deborah McFadden, head of Pathology and Laboratory Medicine at BC Children’s Hospital. Her department performs the majority of unexpected death in childhood autopsies for the province, and is leading the way in their genetic testing procedures – which involve retaining DNA specimens for testing at a later date.
Long QT Syndrome is a disorder that affects the heart’s electrical activity and causes problems with the rate or rhythm of the heartbeat. It takes its name from the abnormal pattern that shows on an ECG (electrocardiogram), between the electrical wave Q and T, in people with this syndrome. If untreated it can cause dizziness, fainting, and in cases such as Sally’s, sudden death.