New treatment gives hope to children with incurable genetic disease

A world-first treatment for children suffering from spinal muscular atrophy (SMA) has just been made available in Australia.

SMA is regarded as the most severe form of a muscle-wasting disease, and is the largest genetic cause of death in children under the age of two.

While the disease is rare, it's estimated as many as one in 35 people carry the gene.

Both parents need to be carriers to pass on the disease.  But most have no idea, until their child shows symptoms.

“Initially they are very floppy, they can’t hold their head up or kick their legs,” Dr Michelle Farrar, a paediatric nurse at the Sydney Children’s Hospital, explained.

“It’s a progressive condition, and ultimately over time babies (affected by the condition) lose the ability to swallow and breathe independently.”

Matilda Donald’s parents were devastated after their baby daughter was diagnosed with SMA, and told she wouldn’t survive past the age of two.

“When we were originally given the diagnosis… it (was) unimaginable,” Matilda’s mother, Seona Donald, told 9NEWS.

“We’d never heard of the disease before, so we were really surprised how common it is,” the one-year-old’s father, Hugo Donald, added.

Matilda was recently given access to Nusinersen, the only available treatment for SMA, thanks to a trial at the Sydney Children’s Hospital.

This weekend, Nursinersen was registered by the Therapeutic Goods Administration (TBA).

Dr Farrar was among medical professionals who praised the decision as ground-breaking.

“As a practitioner, I want to treat my patients. It’s the first time I can offer some hope and treatment options for them,” she said.

While it has been registered by the TBA, the drug remains unlisted on the Pharmaceutical Benefits Scheme (PBS) and costs $100,000 per dose for those not on the trial to access.

Families, including the Donalds, are now fighting to have Nusinersen listed.

“For Matilda, it's life-saving … there's nothing more you can say,” Mrs Donald said.