Like Greg's sister, Ginelle Johnston, 18, of Calgary, is one of the lucky ones. Ginelle, now in her first year of university, was diagnosed with long Q-T syndrome at age 12 after her 48-year-old father died suddenly while waterskiing. The athletic child was placed on a high-dose beta-blocker and later implanted with a cardioverter defibrillator. She has one of the identified genes for long Q-T and is suspected of having another one, which accounts for the severity of her condition (the arrhythmia occurs even when she's asleep).
"It felt like a stick of dynamite had exploded in my chest"
Ginelle's implanted defibrillator and medication allow her to maintain an athletic lifestyle, but they come with a price. "I was shocked by my defibrillator three times at a skating rink, and I collapsed after the third shock," she says. "It felt like a stick of dynamite had exploded in my chest." Others describe the phenomenon as like being kicked in the chest by a horse. And since the beta-blocker medication affects blood circulation, Ginelle says her hands and feet get cold quickly in winter, and when she jogs she sometimes feels dizzy.
Her mother and older brother have both undergone testing and, fortunately, both are free of the defect. But knowing that you've passed the gene on to your child, especially one who has died, can be a terrible burden for a parent.
Clinicians stress the importance of testing the family members of all affected patients. According to Kirsh, if doctors identify a disorder in one person who dies, the odds are that several relatives will also have it. A case in point is the family of Perry Cook of Wareham, Nfld., who have the ARVC gene. His younger brother passed away suddenly at age 27 of now-suspected ARVC, and both his children have tested positive for an ARVC gene. His son Dillon, now 16, was diagnosed and implanted with a defibrillator at age 13.
"We've made huge strides since the 1980s in our ability to detect and treat these elusive disorders," says Kirsh. He concedes that it costs money to test a patient, but says the $5,000 spent on testing to save 50 or 60 years of life for a young person is "not much, considering the amounts spent on kidney dialysis and coronary bypass surgery for older people."
In northern Italy, a screening program for older children and young adults about to enter organized sports leagues has markedly reduced sudden deaths. Screening programs in Nevada have picked up at-risk high school athletes. And, in Japan, all kids going into junior high and high school are screened. But, to date, no such programs have been launched in Canada.
Page 3 of 4 -- On page 4, find out how genetic links are helping scientists looking for a cure.
