Fit and healthy Kiwis dying unexpectedly from mysterious adult condition

Every year, otherwise healthy New Zealanders die without warning. The research hopes the new funding will prevent more deaths, writes health reporter Emma Russell.

Efan Jones remembers saying goodbye to his 30-year-old wife and saying “I love you” as he did every morning before leaving for work.

That Saturday afternoon, May 28, the New Zealander was found dead at a tanning salon in Swansea, Wales.

Jones told the Herald on Sunday that Piata Touvre was healthy, liked to exercise, ate well, didn’t smoke and rarely drank alcohol.

While her death was being investigated by the coroner, police told Jones that the cause was suspected to be sudden arrhythmia death syndrome (SADS), also known as sudden adult death syndrome.

SADS is an umbrella term used to describe the death of otherwise healthy people, usually under the age of 40, after their heart stops beating, often uncontrolled, due to genetic instability of the heart.

This condition is different from a heart attack, which occurs when an artery that sends blood and oxygen to the heart becomes blocked due to fatty, cholesterol-rich deposits that build up over time.

Born in Hokitika, Touvre had no heart disease and no family history of heart disease, Jones said.

Knowing nothing about SADS means Jones is left with more questions than answers and says that his world is torn apart.

“It destroyed my life. I go to football practice and I come home and he’s not there, my life is ruined,” he told the Herald on Sunday.

“She was everything to me, so simple, never a bad thing to say about anyone.”

New Zealand’s coroner’s office has recorded 16 deaths due to SADS over the past five years, but the total death toll from the genetic condition is likely to be much higher as not all deaths are referred to the coroner.

A registry for seed funding from Cure Kids was developed in 2008 by a team from cardiologist and electrophysiologist Martin Stiles and the University of Auckland’s Waikato Clinical School.

It aims to help detect and protect young people who may be at risk of SADS.

Anyone who has died or survived cardiac arrest with no known cause may be referred to Stiles and his team by hospitals, often cardiologists. The Ministry of Justice can also refer to deaths without cause.

Further tests are done to confirm SADS. Then, researchers work to track down family members who may be at risk and if they want to have a genetic blood test.

Styles said there was a 50 percent risk for each first-degree relative for most conditions.

“We’re most interested in what affects younger people, so it’s usually people between the ages of one and 40, after which non-genetic diseases start to dominate,” Stiles said.

Styles said he had 5092 registered — mostly at-risk family members, as well as some who died of SADS.

“When the family sees us about their loved one who has died, they grieve and strangely sometimes they have some guilt about the fact that they have passed on a hereditary disease to their child. Yet they are not to blame for passing on one. They are more likely to pass on a gene for blue eyes than a genetic disease.”

He said his team, which included social workers, psychologists and genetic counselors, worked to help families through the process of why their child died.

There are several preventions that can help reduce the risk, Styles said, including avoiding certain activities and reducing alcohol intake.

Having a fever can be a high-risk period, so those at risk need to be “aggressive” about treating that fever with paracetamol and fluids.

People at risk of SADS may need to have a defibrillator implanted to shock their heart if they have a cardiac arrest.

While Auckland, Waikato and Wellington are each working to track down families in their wider areas, Styles said, none were available in the South Island.

“It’s a little strange that’s the way that happened, but it’s exactly the way funding has fallen.”

The team applied for further research with Potahi Manawa, Healthy Hearts for Aotearoa New Zealand (HHANZ) to fill this disparity gap.

Styles said he was about to hear back about whether it was a success in the coming weeks.

There were also ethnic disadvantages as there were fewer people with Polynesian ancestry known to have a genetic condition than people of European ancestry. This meant that Māori and Pasifica were hard to test as their genetic database – composed of known mutations – was not as large as that of their Pakeha counterparts.

Styles said further funding will help address this.

“We will look at Māori families affected by the inherited disease who do not have a genetic diagnosis and we will conduct detailed genetic studies with the aim of ‘elevating’ any genetic variants into ‘disease-causing mutations’.”

A South Island registry for SADS will help families like Greg Watchman, 57, who died after returning from an hour-long bike ride.

On a sweltering November afternoon, Blenheim’s father used a ladder to get to the flying umbrella on the roof.

When he came back down he was short of breath. She asked her 17-year-old stepdaughter to bring a paper bag to breathe.

She did, but by the time she returned, he had fallen to the ground.

Greg’s wife, Andrea, said, “Her boyfriend did CPR immediately and I was home within six or seven minutes. By that time the ambulance and fire brigade were there.”

CPR was done for 40 minutes but he could not be saved. He passed away on 15 November 2018.

That day still haunts Andrea.

“It was completely out of the blue and nobody saw it coming. I still don’t really understand what happened,” said his widow.

Meanwhile, Jones, a warehouse worker, said that losing his wife was incredibly difficult for him, for friends and family.

“I’m a mess, I’m just depressed and I don’t know what to do with myself.”

He said Touvre’s family and friends had shown him a lot of love and support when he visited New Zealand a few months ago.

Jones said his family was devastated.

The couple met two years ago on a night out in Bristol, England, when the Kiwis were traveling.

“She was wonderful, I’ve never [met] Like anybody first,” Jones said.

The pair married on 1 September last year in Swansea in a small ceremony that was only witnessed by their parents.

Jones described his wife—who was working for a mental health wellness service called VitaMinds—as a very generous person and extremely proud of her Kiwi roots.

Other kiwis lost to SADS

Blenheim’s mother of two, Anita Dale, was 38 when her husband lost his sleep. She went into cardiac arrest and could not be revived. He had no prior heart conditions or underlying health conditions.

Richmond’s mother of three, Leanne Gardin, was 46 when her husband woke her up in August 2019, struggling to breathe. Her hands were clenched, she was trembling, and her pupils were dilated. He took her to the floor to help her breathe and then called emergency services, but was unable to revive her. She worked as a seafood process worker.

Charles Gray, 66, of Blenheim was reported to be in “good spirits” on the day of his death. He was cooking eggs when they started burning and smoke filled the house. After some time he was found dead in the lawn.

Checkout operator Nikki Goodfellow, 50, from Mapua, was gasping for air in her sleep. Her husband tried to wake her up but was unsuccessful. Firefighters rushed to the spot first and could not be saved.

Gerald Scott, 70, of Nelson, was found unresponsive by a passing motorist on a public sidewalk in Nelson. Emergency services performed CPR but could not be revived.

Philip Patira, 52, of Christchurch, was playing golf when he was seen having trouble breathing, clutching his chest, falling and becoming unresponsive. He had suffered from non-insulin-dependent diabetes, high blood pressure, arthritis and increased BMI. The cause of death was SADS, the coroner found.