New Rare Disease Pathway Transforms Infant's Life
A new medical pathway in New South Wales, Australia, has successfully provided a life-changing treatment for an infant suffering from a rare form of paediatric epilepsy. The program aims to fast-track access to personalized therapies for children with urgent, complex medical needs.
Why it matters
This initiative demonstrates a successful model for accelerating the delivery of precision medicine for ultra-rare diseases.
A new NSW Government medical pathway for kids with rare diseases at the Sydney Children's Hospitals Network (SCHN) has seen an eight-month-old baby from the Central Coast become the first person in the world to benefit from a new treatment for a rare form of paediatric epilepsy.
Bohdi, who was born with KCNT1-related catastrophic epilepsy, is the first recipient of SCHN's new Innovative Therapies Pathway which gave him access to life-changing medication by helping fast-track the treatment's approval and deliver the medication within six weeks.
KCNT1-related catastrophic epilepsy is an often fatal genetic disorder affecting young babies that previously had no known effective treatment. The ultra-rare disorder, with only 18 Australian cases ever recorded, was causing Bohdi to experience up to 60 seizures a day and affecting his ability to smile.
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