A Sunshine Coast father says he fears his daughter will succumb to the same mysterious illness that killed his son.
Andrew and Trudy Olive, from Mooloolah, lost their four-year old son Tom three months ago from an undiagnosed illness that saw his body turn on itself, destroying muscle tissue and leading to cardiac arrest.
Tom suffered six episodes in the two years leading up to his death, the last of which killed him.
His father Andrew said Tom's back ached in the short episodes and he couldn't walk; bladder problems also developed.
"He'd be perfect one day and then struck down for 12-24 hours," Mr Olive told AAP.
The family took Tom for numerous blood and urine tests.
Some showed raised levels of glycine and plasma, but they were in normal ranges and doctors weren't alarmed.
"To the doctors' surprise the blood test returned to normal within weeks," Mr Olive said.
"There was no indication that he was sick on his test results."
Later, the doctors also indicated the increased levels didn't play a part in Tom's death, Mr Olive said.
On the day Tom died, on August 25, he woke up complaining of a sore knee, the pain then spread to his elbow and his mouth.
He watched cartoons and ate toast, but within a few hours he suffered a heart attack and was gone.
"His body just turned on itself," Mr Olive said.
"It's not been confirmed what exactly caused it, if it was metabolic or genetic.
"There was extreme, catastrophic muscle damage.
"There was no muscle cells that were usable to be tested.
"How does a young boy die of a heart attack when he is healthy?"
Tom's autopsy results are yet to be released.
Queensland Health has sent a gene sample from Tom to France, where scientists will investigate if his LPIN1 gene has been mutated.
The mutation has been linked to only a handful of deaths in children under seven years, and if Tom is confirmed to have the mutation he could be the first victim in Australia.
Mr Olive said the family are now concerned their daughter, Laura, will also succumb to the same illness.
Like Tom, Laura also has high levels of glycine, plasma and an abnormal amount of amino acid in the urine, the last of which could indicate a metabolic disorder, chronic liver disease or a renal disorder.
"We're petrified," he said.
After months of requests to Queensland Health, and a letter to Minster for Health Paul Lucas, the family have finally secured an appointment on Sunday with a metabolic specialist, an offer that was never given to Tom.
"We're absolutely infuriated it's taken Queensland Health this long to respond," Mr Olive said.
"The illness is beyond the pediatric level, but specialists wouldn't engage us because there were no symptoms that were too concerning.
"Mother's intuition is a known medical fact, they didn't listen the first time, and we want them to listen this time."
Queensland Health said it would not comment on the case until the autopsy result is in.
The Olive family will spread Tom's ashes at Golden Beach on the Sunshine Coast on Christmas Day.
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