A rare condition took their son’s life, they didn’t expect it to happen again

“She was a happy, healthy girl until she got sick … That's when everything just went downhill,” the Perth father said. 

Two years after WA parents Leon and Danielle experienced the “unimaginable” pain of losing their son, Sonny Roy, they suffered another inconceivable blow. 

After their first son, Sonny, died from complications of an ultra-rare genetic mutation, they could never imagine the same condition would take their daughter only 18 months later.  

Now, they’re urging standard genetic testing to help detect “gene code errors” at an early stage to prevent others from experiencing the same unfathomable loss.

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Leon and Danielle have lost two children to the same genetic mutation. Picture: Yahoo News Australia

Perth family loses two children to the same genetic condition

When Sonny first died, the Perth family had no idea what could have caused it.

Speaking to Yahoo Australia, Leon and Danielle explained it was a “very long drawn-out process” to understand why their son was taken from them. 

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It was revealed their baby had a PPA-2 gene mutation, which affects the heart, and is usually triggered by factors like alcohol or a viral infection. 

Sonny was only nine months old when he tragically died, leaving behind an enormous hole in their family. 

Danielle fell pregnant again shortly after their son’s passing, unaware of the risk factors or that it would happen again.

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When their daughter Airlie was born, the Perth couple thought they could get ahead of it all. But five months into her life, Airlie was suffering from ventricular fibrillation, also known as VF or V-Fib, which causes a malfunction in the heart’s regular beating function, and can be life-threatening. 

“Luckily, my wife was holding Airlie at the time, and she was able to be saved,” Leon said. 

They were rushed to the Perth Children’s Hospital, where little Airlie spent six weeks; she was in the ICU for two weeks as the medical team tried to “figure out what was wrong.” 

“Through the process, we got our genetics tested and the diagnosis wasn’t great,” Leon continued. 

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The family were devastated by the diagnosis. Picture: Yahoo News Australia

Doctors determined the Perth baby also had the genetic mutation, with medical staff putting Airlie through a “very strict medical plan” in case she ever got sick. 

In an effort to find other families going through a “similar crisis”, the Perth couple created a support group, which started rapidly growing. “We just dedicated our life to getting answers and how to best manage her when she was unwell,” Leon said. 

Airlie was always a “happy, healthy girl until she got sick,” Leon continued. “She got through multiple viruses … We were very positive about how her journey was going.”

However, earlier this year, the toddler suffered a bad bout of gastro, which triggered her first cardiac arrest episode. Twenty-four hours later, the toddler was discharged from the hospital given the all-clear and sent home. 

Just two days later, Airlie began vomiting, which sparked concern for the Perth parents. Taking her back to the hospital, Leon said things quickly started going “downhill.” 

“She went into a metabolic crisis, which then dropped her blood pressure, raised her heart rate, and unfortunately, they just couldn't stabilise her,” he said. 

“She ended up going into cardiac arrest. We were given a really difficult decision (with the ICU surgical team) of whether to continue with the resuscitation or to let her die.”

Devastatingly, little Airlie lost her battle on May 4, the same day as her older brother’s birthday. She was only 18 months old. 

“It was an extremely traumatic day,” Leon recalled to Yahoo Australia. 

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The Perth family want more to be done for genetic testing. Picture: Yahoo News Australia

“We're scared about going down that path again”

As Leon and Danielle grapple with the loss of their two children, their closest loved ones have rallied around the couple, launching a GoFundMe campaign to raise funds so they can take “time off to heal.”

They’re afraid to return to work and face everyone with the devastating news of their loss. 

“We're going through all of the real rough stuff that we have to do,” Leon said. “It's super taxing, emotionally.”

Through it all, the Perth family still hopes to start a family, which is all they “ever wanted.”

“But we're also scared about going down that path again to face something like this again for the third time,” he said. 

If they had known of the genetic mutation before Airlie was born, they said they would have considered using IVF, which can detect the gene early. Now, they’re urging standard genetic testing to help detect “gene code errors” at an early stage.

“One thing is for sure,” Leon said. “We still want to educate people about these types of disorders, and take this situation that we've been through, and potentially help the next family that has to face that.”

You can find Leon and Danielle’s GoFundMe here.

Originally published as A rare condition took their son’s life, they didn’t expect it to happen again