For the first four years of Miranda Kirk’s life, she was plagued with severe and unusual symptoms.
“When she was first born, there were indications that she was failing to thrive,” her father Brian Kirk told SBS News.
“She started having symptoms such as seizures, droopy eyes. She would fall asleep all the time.”
Miranda was eventually diagnosed with mitochondrial disease, an incurable genetic condition affecting the body's vital organs.
But that came after months of tests, muscle, bone and kidney biopsies, and failed treatments. It was then her family realised the foods they were giving her weren't being synthesised, which was contributing to the problem.
Mitochondria are responsible for converting sugars and proteins in the food we consume into about 90 per cent of the energy our body uses.
In mitochondrial disease, that process doesn't work, potentially causing organ failure and death.
A number of genes contribute to mitochondria, which makes recognising the disease, so difficult.
About one in 5000 Australian babies are born with the disease every year, but more than 50 per cent of patients may never be diagnosed, missing out on effective therapeutic care which could keep them alive.
Research conducted by a team at Monash University’s Biomedicine Discovery Institute has unlocked some of the secrets behind the disease.
Professor Mike Ryan and Dr David Stroud led the team, which has just had a report published in the scientific journal ‘Nature’.
Professor Ryan said the team has been working to identify some 40 per cent of the unknown genes causing mitochondrial disease. And they’re coming close.
“We've worked out two new genes that are involved in building this engine inside mitochondria that are part of the factory line of building up Complex 1 (enzyme).”
They hope to use gene editing technology, known as CRISPR/Cas9, to disrupt the troublesome genes.
“So we can take cell models, each with a different gene that's defective and then look at the therapies that are coming out now through scientific breakthroughs and apply those to our cells and see which ones are more effective.”
Miranda is now 10, her symptoms have stabilised and her quality of life has improved.
Her family hopes the genetic research will provide them with greater clarity.
“Early diagnosis just makes a huge difference,” said Mr Kirk.
“And then the exciting stuff about this research is that they can actually treat it - wow, sensational.”
