Two-year-old Kye Gray is the only known Australian diagnosed with Leigh’s Disease, a rare and severe neurological disorder.
This condition gradually drains the body’s energy, leading to cognitive and physical decline.
Kye’s mother, Louise Gray, faced a long and uncertain journey trying to identify the cause of her son’s mysterious symptoms.
After months of medical uncertainty, a groundbreaking blood test helped provide the family with a clear diagnosis.
The new test, developed by Melbourne researchers, can screen for nearly half of the 7,000 known rare diseases in one go.
“There have only been 15 reported cases of Kye’s condition globally, with just six currently alive,” said Mrs. Gray.
Professor David Thorburn from the Murdoch Children’s Research Institute said the test could boost diagnosis rates to around 70–75 percent.
For families like the Grays, it means earlier treatment access and avoiding costly, invasive procedures.
Dr. David Stroud of the University of Melbourne said the test brings closure to families and removes lingering doubts and guilt.
It also offers hope for the future, helping families plan for healthy pregnancies with greater confidence.
