Fit and healthy Kiwis dying unexpectedly from mysterious adult condition

Every year, otherwise healthy New Zealanders drop dead with no warning. Researches hope new funding will prevent more deaths, writes health reporter Emma Russell.

Ifan Jones remembers kissing his 30-year-old wife goodbye and saying “I love you”, as he did every morning before she left for work.

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

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

While her death is being investigated by the Coroner, Jones had been told by police the cause was suspected to be sudden arrhythmic death syndrome (SADS), also known as sudden adult death syndrome.

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

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

Hokitika-born Tauwhare had no known heart condition and no family history of heart disease, Jones said.

Knowing nothing about SADS has meant Jones has been left with more questions than answers and, he says, his world has been shattered.

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

“She was everything to me, so down-to-earth, never had a bad thing to say about anybody.”

New Zealand’s Coroner’s office has recorded 16 deaths caused by SADS in the last five years but the total number of Kiwis who have died from the genetic condition is likely to be much higher as not all deaths are referred to the Coroner.

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

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

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

Further testing is then carried out to confirm SADS. Then, researchers work to track down family members who may be at risk and if they would like to get a genetic blood test.

Stiles said for most conditions there was a 50 per cent risk for each first-degree relative.

“We are most interested in it affecting young people so that’s generally people between the age of one and 40, after which time non-genetic diseases start to dominate,” Stiles said.

Stiles said they have 5092 registered – mostly at-risk family members, along with some who had died of SADS.

“When the family sees us about their loved one who has died, they are grieving and oddly enough sometimes they have some guilt about the fact that they have passed on a hereditary disease to their child. Yet they are no more guilty of passing on a genetic disease than they are for passing on a gene for blue eyes.”

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

There are a number of preventions that could help lower the risk, Stiles said including avoiding certain activities and reducing alcohol intake.

Getting 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 a defibrillator implanted to shock their heart if they have a cardiac arrest.

While Auckland, Waikato and Wellington each have someone working to track down families across their wider regions, Stiles said, there was nobody available in the South Island.

“It’s a bit weird that’s the way it’s happened but that’s just the way the funding has fallen.”

The team had applied for further research funding with Pūtahi Manawa, Healthy Hearts for Aotearoa New Zealand (HHANZ), to fill this inequity gap.

They were due to hear back about whether that had been successful in the coming weeks, Stiles said.

There were also ethnic disadvantages as there were far fewer people with Polynesian ancestry known to have the genetic condition compared to those with European ancestry. This meant it was harder to test Māori and Pasifika as their genetic database – made up of known mutations – wasn’t as big as their Pākehā counterparts.

Stiles said further funding would help to address this.

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

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

On a gusty November afternoon, the Blenheim father used a ladder to get an umbrella that had blown onto the roof.

When he came back down he was short of breath. He asked his 17-year-old step-daughter to fetch him a paper bag to breathe into.

She did but by the time she returned, he had collapsed onto the ground.

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

CPR was carried out for 40 minutes but he could not be revived. He died on November 15, 2018.

That day still haunts Andrea.

“It was completely out of the blue and no one saw it coming. I still don’t really understand what happened,” his widow said.

Meanwhile, Jones, a warehouse worker, said losing his wife had been incredibly tough for him, friends and family.

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

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

Her family were understandably devastated, Jones said.

The couple had met on a night out in Bristol, England two years ago, while the Kiwi was travelling.

“She was amazing, I’ve never [met] anyone like that before,” Jones said.

The pair married on September 1 last year, in a small ceremony in Swansea, witnessed only by his parents.

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

Other Kiwis lost to SADS

Anita Dell, a mum of two from Blenheim, was 38 when her husband woke to her gasping. She went into cardiac arrest and could not be revived. She had no prior heart condition or underlying health condition.

Leanne Gardyne, a mum of three from Richmond, was 46 when her husband awoke to her struggling to breathe in August 2019. Her hands were clenched, she was shaking, and her pupils were dilated. He moved her to the floor to assist her breathing and then called emergency services, but she was unable to be revived. She had worked as a seafood process worker.

Charles Gray, 66, from Blenheim, was reported to be in “good spirits” the day he died. He had been cooking eggs when they began burning and the house filled with smoke. He was found dead on the lawn a short time after.

Nikki Goodfellow, a 50-year-old checkout operator from Mapua, was loudly gasping for air in her sleep. Her husband tried to wake her but failed. The fire crew were first to the scene and could not revive her.

Gerald Scott, 70, from Nelson was found by a passing motorist unresponsive on a public footpath in Nelson. Emergency services performed CPR but he was unable to be revived.

Phillip Patira, 52, from Christchurch was playing golf when he was seen to become short of breath, clutch his chest, collapse and become unresponsive. He had suffered non-insulin-dependent diabetes, hypertension, gout, and increased BMI. The cause of death was SADS, the Coroner found.