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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?

Speakers:

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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