Emily and Mitch still remember the afternoon they received a phone call informing them their newborn baby boy had screened positive for Spinal Muscular Atrophy (SMA).

The rare genetic disease causes progressive muscle weakness from degeneration of motor neurons in the spinal cord. For babies born with severe types of SMA, a diagnosis often meant they would never gain the ability to sit or live to their first birthday.

“We had Mitch's family over to see Xavier at home for the first time when I took the phone call. It was from a neurologist at the Sydney Children’s Hospital, and they told us Xavier’s newborn screening was positive for SMA. It left us completely numb and confused,” Xavier’s mum, Emily, said.

At the time treatment options for SMA were very limited... read more.