Cracking the genetic code

Levi Trowbridge was diagnosed with KCNQ2 epileptic encephalopathy, a rare genetic disorder that causes frequent seizures, at three weeks of age after taking part in a rapid genomic testing program for critically ill children at the Victorian Clinical Genetics Services, the genetic testing arm of MCRI. Mum Karsha and dad Steve said rather than waiting on tenterhooks for six months, they had a diagnosis within days, and after changing medications Levi went from having five seizures a day to not having any since February 2020.

See story, page 22

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