Resources to live well with SMA

In 2017, baby Mackenzie sadly passed away from spinal muscular atrophy (SMA) at seven months of age.

The tragic passing of Mackenzie led her parents on a mission to ensure all families planning a pregnancy could access free, routine genetic carrier screening.

After years of lobbying, the Mackenzie’s Mission project to expand genetic carrier screening across Australia is nearly a reality. The Federal Government’s March budget included an announcement that genetic carrier screening for SMA will be free from 2023.

The Government said their plan, “builds on advances to date through Mackenzie’s Mission and will support universal Medicare funded testing to check if couples are carriers of cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), with the item available in 2023”.¹

Genetic carrier screening is presently available in Australia as a privately funded service and this measure will provide a Medicare rebate for genetic testing for CF, SMA and FXS.