The fault in our genes

In early 2017 Rachael and Jonny welcomed their first child into the world, a daughter named Mackenzie. But something was wrong, and at 10 weeks Mackenzie was diagnosed with the terminal genetic disease Spinal Muscular Atrophy Type 1. With 1 in 50 of us carriers of SMA, there’s a chance you or someone you know could be carriers. So why have we never heard of it?


Rachael Casella
Dr Michelle Farrar, child neurologist at Sydney Children’s Hospital
Alison McEwen, genetic counsellor and Associate Professor at the University of Technology Sydney

Producer: Cheyne Anderson

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