Stephanie Nave is one of 30 children to be treated for a muscle-wasting disease at RCH this year, thanks to a new breakthrough drug.

The four-year-old, who has Spinal Muscular Atrophy type 2, is the first patient to receive the drug at RCH since its listing on the Pharmaceutical Benefits Scheme (PBS) earlier this month.

SMA is the number one cause of genetic death in Australia in children under the age of two, and the new drug, SPINRAZA, can have a life-changing impact on sufferers of the deadly disease.

It is hoped the drug, administered by spinal infusion, will halt the progression of the disease or even reverse muscle loss to improve patients’ motor function. The drug has not previously been available in Australia other than to babies with type 1 SMA receiving it in clinical trials or as part of an Extended Access Program sponsored by the drug manufacturer. While in the US the first year of treatment costs $1 million, with subsequent years of treatment costing $500,000 annually, Australian patients aged less than 18 with SMA types 1, 2 and 3a will pay just $6.40 per treatment under the PBS.

Prof Monique Ryan, Director of Neurology, said: “We look at some of the infants who participated in the SPINRAZA trials and think ‘If they’d been born four or five years ago they would probably have died by now’. It’s unbelievable. We have every reason to believe this drug will also help these other children to quite a significant degree.”

Stephanie receives treatment from multiple teams at the RCH and is pictured before her treatment this week with her parents Amanda and Mark and RCH staff – Neuromuscular Advanced Practice Nurse Daniella Villano, Neuromuscular Physiotherapist Dr Kate Carroll, Neurology Fellow Dr Ian Woodcock and Director of Neurology Prof Monique Ryan.