Researchers race to cure 'Newfoundland curse,' which can kill without warning

Dr. Kathy Hodgkinson, left, and Dr. Jessica Esseltine are shown in Esseltine's laboratory at the Memorial University School of Medicine in St. John's NL on March 7, 2025. THE CANADIAN PRESS/Paul Daly

ST. JOHN’S — Terry Rideout says he was loading up his fishing gear the first time a tiny implant in his chest sent bolts of electricity into his heart and shocked it back into its regular rhythm

The force was enough to knock him backward into his shed, he said.

“It felt like my chest was just blown apart,” Rideout said in a telephone interview from his home in Newtown, a small fishing community along Newfoundland’s northeast coast.

Rideout has arrhythmogenic right ventricular cardiomyopathy, or ARVC, a heart condition caused by a small mutation in his genetic code that leads to sudden, irregular heartbeats that can kill him without much warning.

The disease affects clusters of families in certain parts of Newfoundland, and it has come to be known as the “Newfoundland curse.” The defibrillator implant that threw Rideout into his shed two decades ago is the best known way to ward it off.

But Jessica Esseltine, a biomedical scientist at Memorial University, is hoping to change that by using heart tissue grown in a petri dish to stop the disease before an implant is needed.

“We’re trying to figure out how this single gene change, this seemingly very small spelling mistake, can cause such huge changes in a heart cell,” the assistant professor said in a recent interview. “The hope is, at some point, we will be able to offer a cure.”

Genes are sections of DNA, which is made up of combinations of four different molecules. ARVC is caused by a single swap of those molecules in one gene — a “spelling mistake,” as Esseltine called it.

Kathleen Hodgkinson was part of a team of geneticists who, in 2008, first identified the gene at the root of the problem and then developed a method to test for it. Hodgkinson has found the gene in about 28 Newfoundland families, including the Rideouts, as well as in families in northern Germany, Denmark, Norway and Russia. All those families have genetic ties to the Newfoundland families, she said.

“When I first started, families were so frightened,” the Memorial University professor said in a recent interview. They told her stories about young, healthy relatives going to the hospital with heart palpitations, testing normally, and then dying — seemingly for no reason.

“Being able to test people and put in the (defibrillator implant) has changed things enormously … but it doesn’t stop the disease in its tracks. It doesn’t cure it,” she said.

Rideout has to go to the hospital, often by ambulance, every time his defibrillator goes off, which is expensive. He also loses his license for six months each time it goes off, as a safety precaution. And the disease is wearing down his heart.

He got the gene from his mother, who passed it down to all three of her sons, said Norma Rideout, Terry’s wife. The condition killed Fred Rideout, Terry’s brother, when he was 45 years old. Norma was driving him to the hospital when he died, she said.

“It’s always in the back of your mind,” she said. “I’m just glad our kids don’t have it.”

Esseltine said sometimes the condition can degrade a patient’s heart so dramatically they require a heart transplant.

She takes blood or skin samples from ARVC patients and turns them into stem cells, which she grows as heart cells. Then, she uses a gene editing technique to repair the “spelling mistake” in the faulty gene in the heart cells

“We’re doing all of that in a petri dish right now,” she said. “But, of course, the hope would be one day that we could either treat the patient’s heart with stem cells from their own skin, or we can use genetic engineering … to repair the mutation in their hearts.”

Working with families like the Rideouts brings a meaning and fulfilment to her work she hadn’t experienced before, Esseltine said.

“It makes me want to do better, to move the research forward,” she said. “Because I see the real lives that it could possibly change if I do a good job.”

Terry Rideout, now 55, said Esseltine’s work may have started too late to help his condition.

“But for the younger generation,” he said, “it’s going to be life-changing for them.”

This report by The Canadian Press was first published March 9, 2025.

Sarah Smellie, The Canadian Press