Treatment for spinal muscular atrophy is proving life-changing for Australian families
Christmas has come early for the Donald family.
At the age of two years and five months, Matilda Donald has surprised and delighted her parents by walking unsupported for the first time.
Her mother Seona Donald recorded the special moment on her phone.
“I was trying to film it and at the same time crying. It was amazing,” she told 7.30.
Matilda has spinal muscular atrophy, or SMA. The muscle-wasting disorder is the largest genetic cause of death in infants.
7.30 met Matilda last year, shortly after she was diagnosed with the most severe form of SMA, Type 1.
Seona and Hugo Donald feared their daughter would never walk.
Access to a new drug, Nusinersen, has made an enormous difference. Matilda can now grip things, play without assistance, stand and even take steps.
Mr Donald says Matilda is now much more independent.
“The first few weeks after diagnosis, we thought she could die by the time she was two years old. That was our real fear,” he said.
“So the change since then has been massive.”
Excited to get ‘muscle juice’
The change has also been massive for three-and-a-half-year-old Stephanie Nave.
When 7.30 met Stephanie last year, she did not qualify to receive the expensive drug free of charge because she has SMA Type 2, a less serious form of the condition.
Type 2 children usually reach adulthood, but with major physical disabilities. With their daughter’s movement rapidly deteriorating, Mark and Amanda Nave joined a campaign by the parents of children with SMA for the drug to be listed on the Public Benefit Scheme (PBS).
“Having to beg people for your child’s life is a place you don’t ever want to go,” Ms Nave told 7.30.
The Government responded in May, adding Nusinersen to the PBS and subsidising the cost.
When Stephanie started treatment the changes were almost immediate, and she has continued to improve.
“She can lift up her cup, she can feed herself again, reach out and grab things,” Ms Nave said.
“We had her most recent injection two weeks ago and she was excited to come to the hospital to get her ‘muscle juice’, as she calls it.”
Neurologist Monique Ryan, from the Royal Children’s Hospital Melbourne, who treats Stephanie, told 7.30 the little girl’s response to the treatment had exceeded expectations.
“What we’ve seen since she started Nusinersen is a stabilisation and an improvement, which is wonderful to see,” Professor Ryan said.
“This is a treatment for SMA, not a cure, so what I say to parents and to children is that it is something that will buy us time for better things to come along.”
For both families it has provided something very special: hope.
“It truly has been a miracle drug for us,” Mr Donald said.
“There was nothing there to help children previously and now real hope has been given to so many families across Australia.”
Watch the story tonight on 7.30.