Researchers Discovered A Way to Fight the ‘Newfoundland Curse’

Share

Researchers at the Memorial University in St. John’s just won the Governor General’s Innovation Award, after discovering a treatment that can save hundreds of lives. Dubbed as the ‘Newfoundland Curse,’ the condition has been killing generations of healthy young men.

The Heart Simply Stopped

Researchers started looking into the genes of the families affected by the ‘curse.’ They discovered a gene that caused a heart condition called arrhythmogenic right ventricular cardiomyopathy. Then, they started working on a treatment.

In Newfoundland, there are 25 families with the heart disease, according to researcher Dr. Kathleen Hodgkinson. She and her colleagues Dr. Terry-Lynn Young, Dr. Sean Connors and Dr. Daryl Pullman have received the awards for their research and life-saving treatment.

In some of the 25 families, there were reports of 12 generations of young men simply dropping dead without any other symptom, said Hodgkinson:

“Families were stressed because they knew if they got a telephone call, somebody else had died.”

“Completely Healthy, Then Sudden Death”

The disease would affect young men, who died in their late teens or until reaching 40 years old. They didn’t suffer a blockage like any common heart disease. Connors explains that it’s a different problem:

“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.”

Hundreds of people in Newfoundland had this disease, and researchers knowing that it was a genetic link, they started examining the genetic code. They found out that a change in a letter of the code led to sudden death, said Young:

“And that single letter change, although the protein still appeared to be functional, would predispose individuals to sudden death.”

They immediately developed a genetic test to find out if a person has the gene mutation or not. With only a sample of blood or saliva, a person could know if they are predisposed to the condition. There are no other heart conditions that can be found with a simple test, said Connors.

The Solution Was to Implant a Defibrillator

Connors explains that there is no real treatment for this issue. People with the gene mutation must have a small defibrillator implanted in the chests:

“If it detects your heart’s stopped, it can restart it. 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.’”

With this implant, now people carrying the mutated gene can now live 30-31 more years. So far, no other treatments can add 31 years to a human’s life. Hodgkinson stated that this was just the beginning, and won’t stop until they find a cure for the ‘curse’:

“Ultimately it will be nice if we can do something that ameliorates the condition totally.”

mm

Andre Blair s is the lead editor for Advocator.ca. He holds a B.A. in Psychology from the University of Toronto, and a Master of Science in Public Health (M.S.P.H.) from the School of Public Health, Department of Health Administration, at the University of North Carolina at Chapel Hill. Andre specializes in environmental health, but writes on a variety of issues.


Share

Recommended For You

Leave a Reply

Your email address will not be published. Required fields are marked *