Declan loves rugby union and surfing. When his legs started to fail him, he and his family went through a difficult journey of hospital visits and countless tests in search of answers.

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.