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Louis's story

At just five months old, Louis was diagnosed with a terminal and very rare condition known as 'Leigh disease'.

At just five months old, Louis was diagnosed with a terminal condition which comes under the umbrella term of 'Leigh disease'. Leigh disease is a rare (1 in 40,000) genetic condition caused by a defect in the cellular aerobic energy pathway – leading to developmental delay, low muscle tone, seizures and resulting in a progressive decline in neurological function.

Variants (changes) in a number of different genes can cause Leigh disease, but there is no cure and for most forms of the disease there is no specific treatment. Amy said she and her husband were devastated to learn that their baby boy’s condition would worsen with time: “We were told he was unlikely to survive more than a few years.”

In June 2014, Louis’ family were contacted about the possibility of being involved in a Melbourne Genomics study that hoped to find the genetic basis of Louis’ condition. Genomic sequencing of Louis’ DNA led to the likely cause of Louis’s condition being discovered. Murdoch Children’s Research Institute clinical geneticist, Associate Professor Zornitza Stark, and the team isolated the gene which had produced Louis' terrible illness – and, against the odds, were able to confirm that his condition was treatable. The extremely rare genetic condition is known as biotin and thiamine-responsive basal ganglia disease. Doctors began medication immediately after the diagnosis.

Although this is a very new area of study, the researchers and doctors involved in Louis’ case are exceptionally confident that his condition is no longer terminal. Whilst the damage Louis has sustained to his brain is irreparable, careful and consistent medication should ensure he doesn’t experience any further damage.