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AAP
AAP
Health
Allanah Sciberras

Rare genetic diseases rapidly detected under new test

Louise Gray and her son two-year-old son Kye, who has a rare and serious mitochondrial condition. (Darren England/AAP PHOTOS)

Louise Gray knew something was wrong when her five-month-old son failed to meet the same early milestones as his older sister.

Acting quickly, she took him to the GP, which led to an MRI and a series of further tests. Eventually, Kye was diagnosed with Leigh's disease, a rare and serious mitochondrial condition.

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