Belinda Wormleaton had never heard of spinal muscular atrophy (SMA) before her son Thomas, was diagnosed with the condition.
But the Loftus mum knew something was wrong when Thomas could not walk independently at 18 months of age.
“He sat up and crawled, and did all the milestones but never progressed to independent walking,” she said.
“He could cruise around furniture on his feet, and people kept telling me he was just a late walker.”
Thomas was diagnosed with SMA type 2, an inherited condition that affects the muscles.
It is characterised primarily by progressive muscle weakness that develops in children from about six months.
The degenerative condition is caused by mutations in the SMN1 gene.
“I was never told about it at my genetic screening and [my husband and I] were both carriers, “ Mrs Wormleaton, who also has a daughter, 3, who didn’t inherit the gene, said.
“One in 35 people carry the SMA gene and when both partners are carriers it’s a one in four chance.
“It’s a $385 test that also looks for Fragile X and cystic fibrosis.”
In the recent federal budget, the government announced it would include spinraza – the drug that treats SMA, on the Pharmaceutical Benefits Scheme (PBS) from June 1, 2018, for children under 18 years of age.
Spinraza increases the body’s ability to produce SMN protein critical to the health of motor neurons.
Mrs Wormleaton says the funding is life-changing.
“Thomas will never walk but it may slow his progression to increase his life span significantly,” she said.
“We’re hoping it stops his muscle deterioration so he doesn’t get any weaker.
“For families like us this drug at the cost of $240 million will provide a treatment for the disease. Prior to it been listed on the PBS it would’ve cost us $70,000 per shot and Thomas needs an injection every four months for the rest of his life.”
The family is also hoping to raise $40,000 for a wheelchair accessible car to transport Thomas.
“At the moment we have to lift him up in his manual chair, which is very heavy, and he can’t push himself,” Mrs Wormleaton said.
His school, Loftus Public School, has set up a fundraising page to help them, and there will be a lemonade and cookie stand on June 8.