A rare disease changed Archie’s life. Fruit flies are now his best hope
Archie Melling was just like any other kid before a rare and destructive disease changed his life overnight.
At 13 months, he was “super active, a huge eater, he was already talking, he was almost walking”, mum Ros Melling said.
Ros and Andy Melling with their children, Archie, Oli and Phoebe. Archie, 8, has a rare ECHS1 deficiency.Credit: Joe Armao
“One day, he was, you know, a pretty normal kid. And he was a very happy little boy, he was always laughing and giggling.
“And then nothing, like a little sack of potatoes the next time he woke up.”
Archie Melling as a baby. His mum, Ros, says he was “always laughing and giggling”.
Archie, now aged eight, has an ECHS1 deficiency, which affects only about 65 people worldwide and causes unexpected early-onset neurodegeneration. It was triggered after a bout of gastro that ended up in a trip to the hospital, where he was eventually diagnosed.
“The children really transform from a relatively normal-behaving baby, happy child, to one that’s struggling to do everything that they did beforehand,” said Dr Travis Johnson, La Trobe University’s head of rare metabolic disease group.
Melling said Archie was still a “clever, cheeky little fella” and “can give you some good giggles”. However, the disease means he’s quadriplegic, non-verbal, suffers painful muscle spasms, and must be fed a specialised diet through a tube.
There’s currently no treatment and very little research into the rare condition.
“We were sort of told to take Archie home and just enjoy having Archie with us,” Melling said.
But the Mellings weren’t prepared to accept that as an answer.
They cofounded Archie’s Embrace and most recently raised almost $140,000 to fund La Trobe University research, led by Johnson and postdoctoral researcher Dr Sarah Mele.
“I think our big hopes are treatments. So drug repurposing, we’re hoping that there will be some medications that are already out there that we can repurpose for either treatment or symptom management for Archie,” Melling said.
Since little is known about the disease, the research will use fruit flies to trial different treatment options.
Fruit flies shared 75 per cent of disease-causing genes with humans, said Mele. She’s bred flies to have the disease and their genetic similarity to humans makes them effective test subjects.
Johnson and Mele will trial different drugs and diets on the flies and analyse how they react physically and on a molecular level.
Archie’s Embrace raised nearly $140,000 to fund new research at La Trobe University into ECHS1 deficiency. Credit: JOE ARMAO
Because of the rarity of the disease, Johnson said pharmaceutical companies weren’t likely to invest in research because they couldn’t profit from it.
Money raised by Archie’s Embrace can only go so far and Melling is constantly hopeful that new donors, sponsors or government funding will emerge.
She added that it was difficult to raise awareness because common diseases like breast cancer and heart disease received greater attention.
Years on from Archie’s diagnosis, the Melling family’s motivation hasn’t wavered.
“Our hope with Archie is longevity and to thrive. And if we can get development of skills, too, that would be amazing,” Melling said.
“It’s always about trying to get quality of life.”
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