In February 2026, when Sylvie was just four days old, we received the devastating news that her newborn screening test had come back positive for Spinal Muscular Atrophy (SMA).
What followed were the longest and hardest two weeks of our lives as we waited to find out which type of SMA she had.
There are four recognised types of SMA:
Type 1 (60%) – Children typically do not survive beyond two years of age without treatment.
Type 2 (30%) – Children are unlikely to walk independently and often require breathing support and feeding tubes. Life expectancy has historically been around the late teens, although outcomes are improving with modern treatments.
Type 3 (10%) – Children usually lose the ability to walk later in childhood or adulthood and may require breathing support later in life. Life expectancy is generally normal.
Type 4 (<1> – A much milder form, with symptoms usually beginning after 30 years of age.
Every night we held our breath and prayed that Sylvie would be in that 1%.
After two weeks of anxious waiting, we received unexpected news. Sylvie didn't fit into any of these recognised types. She is one of the first babies in Australia identified with a different genetic presentation of SMA. While this was confusing and frightening at first, it also meant we were entering completely unknown territory.
Then came the testing of our other children.
We received another positive result, this time for Cooper. He has the same type as Sylvie.
As heartbreaking as it was to learn that another one of our children was affected, there was also a glimmer of hope. Cooper had never shown any signs of weakness or mobility issues. He plays rugby league, does backflips on the trampoline, and there is simply no slowing him down. Seeing him thrive has given us hope for Sylvie's future too.
Throughout this journey, we have been incredibly fortunate to find an amazing neurologist who has welcomed both Cooper and Sylvie into ongoing SMA research. Our hope is that their experiences and results will help researchers better understand this newly identified presentation and provide answers and comfort to other families who may one day receive the same diagnosis.
It's also important to know that newborns have only been routinely screened for SMA in Australia for the past few years. Carrier testing is also fully Medicare-funded for women through a simple saliva test. Neither Silas nor I have any family history of genetic disorders, so this diagnosis came as a complete shock.
This August, I'm taking on the Ks for Kids Challenge, walking and running to raise funds for the Children's Medical Research Institute. These incredible scientists are working every day to find the treatments and cures of tomorrow.
If you're able to support me, every donation big or small will help fund vital research and give hope to children and families facing life-changing diagnoses like ours.
Every step I take is for Cooper, for Sylvie, and for every child still waiting for answers. Thank you for helping me make every kilometre count. ❤️
