IT has taken five years of genetic detective work to give a name to the condition that has robbed Ashton Hancock of his ability to hear, talk and walk.

Doctors suspected he had a syndrome when he was born six years ago, but gene analysis technology was not yet able to complete a full interrogation of his DNA.

Last year, through the work of the Murdoch Childrens Research Institute’s neurogenetic research group, results of a year-long genetic analysis in Japan found a diagnosis for the six-year-old.

He is one of five known children in the world — the only one in Australia — with this gene mutation.

Mum Sarah Hancock is the guest speaker at today’s Dame Elisabeth Murdoch Mother’s Day Luncheon at Cruden Farm, raising money for child health research at the institute.

“It was a feeling of relief to finally have an answer,” Ms Hancock said. “It explains all his difficulties, and it means it wasn’t something that I did.

“Hopefully, in the future it will mean we’ll have a better idea about what to expect, what other health problems might come along, what treatments might be successful, and life expectancy.”

The results also give Ms Hancock and husband Justin reassurance this genetic mutation is something three-year-old daughter Lyla cannot pass on to her own children.

Born two months premature, a brain scan confirmed Ashton had the rare brain abnormality agenesis of the corpus callosum.

The fibres that connect the two hemispheres of the brain failed to develop, leaving him with epilepsy, cerebral palsy and developmental delay.

His parents have worked tirelessly to find therapies that can help his walking and eating. “He’s definitely improving. Now he can run with his walker and he can kick a ball,” Ms Hancock said.

“He’s understanding more when you talk to him and he’s generally a lot happier.”