Baldivis parents urge WA coroner to conduct genetic testing following any sudden infant death

How do you go on after losing a child?

What if you lost two?

Baldivis couple Danielle and Leon Green are tackling this tragic reality after the death of both of their babies in as many years.

In 2021, the Greens experienced every parent’s worst nightmare when their first child Sonny died suddenly aged just nine months.

“It was so sudden, he’d had gastro and he perked up,” Danielle said.

”That morning, he was laughing, ate his breakfast and he was acting completely normal, and then he just started vomiting.

“First-time mum, I was just going to go and get him checked out, just be sure, and took him to Rockingham hospital.

“They took us in straight away and started fluids and antibiotics, and literally, I think we were in there maybe 30 minutes and he went into cardiac arrest.”

Medical staff worked on Sonny for 40 minutes and managed to get him back.

Once he was breathing on his own, Sonny was transferred to Perth Children’s Hospital, where a short time later he died.

The couple had no idea why Sonny died when, after an easy pregnancy, their daughter Airlie was born in 2022.

But their nightmare began again when Airlie – just five months old – began suffering from a familiar set of symptoms, gastro and then the infant went into cardiac arrest.

Medical staff at Rockingham Hospital managed to bring her back and Airlie was transferred to PCH.

Doctors could not find anything structurally wrong with Airlie’s heart so a series of genetic tests were ordered.

Finally answers

Tests discovered that Airlie had a rare genetic mutation called PPA2, which has been identified in less than 100 people worldwide.

There are just 11 people alive today who have the extremely rare mutation; the youngest is one and the oldest is in their late 40s.

In a healthy person, the PPA2 gene makes a special protein that our cells use for chemical reactions and to generate energy.

Drinking alcohol or a viral illness can trigger sudden cardiac death in carriers.

There was a one-in-a-billion chance that Danielle and Leon were carriers of the same mutation but now they had an answer to why Sonny died.

“A team of specialists at PCH were like ‘we’ve never heard of this condition’, and everyone in Australia they’d spoken to that had experience with PPA2, their patients had already passed,” Danielle said.

“So my husband and I began researching and connected with a family in America who had lost a son but had a living daughter.”

Based on this family’s experience, Danielle, Leon and Airlie’s specialist doctors created an emergency plan.

Airlie was also fitted with an implantable cardioverter-defibrillator (ICD) device to detect and stop irregular heartbeats.

However, due to the nature of PPA2, the device didn’t detect the cardiac arrest Airlie experienced in May this year, aged just 18 months.

“She was in PCH that day and she ended up getting into a severe metabolic crisis, which is what you don’t want these children to do,” Danielle said.

“Then just, unfortunately, she continued to go downhill. She was in the ICU and it just got to that point where they had to make a call, and unfortunately, she couldn’t be saved.”

Going forward

Danielle and Leon dreamed of a big family but they are now worried it is getting too late to try again.

They are now advocating for genetic testing to be carried out following all sudden deaths in WA.

The Office of the State Coroner provided a statement confirming that genetic testing was already in use in WA.

However, genetic testing is only performed if required.

“Careful scientific steps and relevant considerations are taken into account by the forensic pathologist as part of their examination in order to provide the coroner with an opinion on a cause of death,” the statement said.

“Genetic testing will be undertaken if required to assist with forming an opinion on cause of death.”

Danielle and Leon say if they had known Sonny’s cause of death, they could have used pre-implantation genetic testing to ensure future children were not carriers of PPA2.

They also urge any parent to access genetic screening during pregnancy.

“We asked all about genetic testing prior to falling pregnant again and we we’re just told that it’s not necessary and it’s very expensive,” Danielle said.

In WA, reproductive carrier screening costs about $850, a cost Danielle says is worth it and screens for about 750 different genetic conditions including PPA2.

Life without them

Danielle says she would not change her children for the world but admits the grieving process has been hard.

“My children wouldn’t want me to be upset, they wouldn’t want me to be sad, because we had a very happy life,” she said.

“I just find talking helps in general and I was told one time, you know, grief and love can’t exist without each other.

“They have to coexist. Without love, there is no grief and vice versa. And I think that’s really stuck with me.

“You know, if I’m having a crap day or I’m feeling bad and I’m upset and sad about my children, it’s because I love them so much.”