If only the doctors had known earlier.
Almost overnight, baby Louis went from cherubic to screaming in pain, inconsolable.
At the hospital, there was a CT scan, an MRI, blood tests, a lumbar puncture. Eventually, the diagnosis came back: Leigh syndrome, which is incurable and, eventually, fatal.
“That is what we were left with," his mother Amy Clarke says. "We got on with life, but with a very dark cloud hanging over us.”
On Tuesday morning at a playground near the Royal Children's Hospital, Louis, who's now 4½, giggles as he tries to worm his way out of his mother's grasp.
His life was saved thanks to study run by Melbourne researchers, who, months after that first heart-breaking diagnosis, gave him a genomic test for rare conditions.
It revealed he did not have Leigh syndrome, but instead an extremely rare genetic condition – biotin and thiamine-responsive basal ganglia disease. But it was treatable. His doctors began medication immediately.
If only it hadn't taken eight months to get the results back.
"If his treatment was started earlier, it could have reversed some of the damage," says Ms Clarke.
"And we would have saved eight months of hell, of thinking we were going to lose him.”
A new testing program, being rolled out in to 18 neonatal and paediatric wards across the country as part of a larger study, hopes to change that.
Rapid genomic testing will provide hope for children with rare genetic conditions. Without genomic screening only 10 per cent ever receive a diagnosis.
Normal genomic testing – which Louis had, as part of the study's first phase – has been available for some time. But it takes three to six months, by which time often little can be done.
The new rapid tests to be rolled out cut that time frame to under five days.
The study team ran rapid tests were run on a group of 40 children at two Melbourne hospitals in 2016 and 17, producing promising results.
“They were about three to five times more effective in achieving a diagnosis for a rare genetic condition than all the other tests we have – combined,” says Associate Professor Zornitza Stark, who led the Melbourne Genomics Health Alliance study, published this month in Genetics in Medicine.
In one case, they revealed a young girl in intensive care on a ventilator had a problem with the way her body processed B vitamins. Treatment was started immediately, and now she is at home, breathing on her own. Had the results come six months later, the outcome likely would have been much worse.
Genomic testing compares a person’s DNA with a database to look for genetic abnormalities. “It’s a bit like reading 1000 copies of War and Peace,” says Professor Stark, “and trying to find a single spelling mistake.”
The research was partly-funded by a $33.3 million investment in genetics research and testing over four years by the state government, announced in 2015.
“Watching their baby in intensive care is heartbreaking for parents,” said Health Minister Jill Hennessy.
"These tests help our sickest babies with rare conditions get diagnosed faster so they can get back home sooner – and, hopefully, lead happy and healthy lives."