A team of researchers were honoured Wednesday morning for their discovery that helped break the ‘Newfoundland curse’ – a heart condition that has been killing Newfoundlanders for generations.
The researchers, from Memorial University in St. John’s, won the Governor General’s Innovation Award for discovering the gene that caused arrhythmogenic right ventricular cardiomyopathy, and helping introduce life-saving treatments for it.
They identified 25 families in Newfoundland with this problem, said researcher Dr. Kathleen Hodgkinson, who received the award with her colleagues Dr. Terry-Lynn Young, Dr. Sean Connors and Dr. Daryl Pullman.
Some of these families had for 12 generations seen young men drop dead from a heart attack without warning.
“Families were stressed because they knew if they got a telephone call, somebody else had died,” she said.
The disease, which especially affected young men, started to kill them off beginning in their late teens, to the point where by 40 years old, half of men with the condition were dead.
The condition wasn’t a blockage, like many heart diseases, but an “electrical problem,” explained Connors. “The heart would suddenly stop. Think of a house, a circuit breaker. A person could be perfectly well, and then suddenly, that breaker tips, the patient dies.”
“The devastating thing was, this was often their very first symptom. Completely healthy, then sudden death.”
The team estimated that there were hundreds of people in Newfoundland and elsewhere with this problem.
Knowing that there was clearly a genetic link, they got to work, examining the genetic code of the affected families. Eventually, said Young, they found a change to a single letter of their genetic code. “And that single letter change, although the protein still appeared to be functional, would predispose individuals to sudden death.”
After decades of research, they were elated, she said. They ran down the hall to tell Connors that they had a genetic test. To her, that was the most exciting thing – they could now do a simple test, with a saliva or blood sample, and within days know whether a person carried the mutation.
If a man did carry the gene, he could now be treated, said Connors. “I don’t know of any other condition in all of heart disease which based on a simple test, it leads to a treatment, black and white.”
Carriers have a small defibrillator implanted in their chests. “If it detects your heart’s stopped, it can restart it,” he said. “The patients often come and tell me, ‘Oh I fainted but I think I’m fine.’”
“I tell them, ‘You died. And 10 seconds later, the machine worked and in 10 seconds you were back on your feet.’”
Having this implant, he said, on average adds between 30 and 31 years to a man’s life. “I think there’s very few medicines, if any, that I can think of that you can take and add 31 years of life.”
However, Hodgkinson doesn’t feel the curse is completely over. “I think the curse will go when there is a cure. The treatment has certainly taken the wind out of its sails, the worst wind, but ultimately it will be nice if we can do something that ameliorates the condition totally.”
But, she said with a smile, “We’ve given it a little bit of a shot across its bows.”
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