Meet seven-year-old Evie. Evie is a vivacious, bubbly, strong-willed, happy-go-lucky little girl,” says her Mum Natasha Wagner. Except, as Natasha tells ABC Radio National’s Health Report, Evie’s life is anything but ordinary.

Three days after Jovi and his parents were tested using trio-whole exome sequencing, he was diagnosed with a severe, life-threatening condition: Spinal Muscular Atrophy with Respiratory Distress type 1 (SMARD1). This disease is so rare that only around 60 people are known to be affected in the world.

It was with both relief and sadness that we learnt of her diagnosis. Of course we knew there was very likely an underlying cause for her long hospital admission and difficult start to life. What the diagnosis has meant for her is that she has had access to early intervention since she was a newborn and is doing remarkably well.