Drug success
AT LIFE STEPHANIE’S SECOND CHANCE
CHEAP access to a lifesaving drug has given Moriac threeyear-old Stephanie Nave a second chance at life.
Earlier this year the musclewasting disease spinal muscular atrophy ( SMA) type II had robbed Stephanie of the ability to walk, feed herself and have independence.
For close to a year Stephanie’s devoted parents, Amanda and Mark Nave, had campaigned for the lifesaving drug Spinraza to be listed on the Pharmaceutical Benefits Scheme.
Prior to its listing it cost $1 million for a 12-month dose, and more than $360,000 a year for subsequent doses.
Stephanie gained access to the drug in May and has since had multiple doses, which have had a life-changing impact.
Stephanie’s mum, Dr Nave, said her daughter was “kicking goals” and relishing the ability to learn new motor skills every day. “I guess we were always hopeful that this drug would have a positive effect. When you campaign so publicly you hope your daughter will benefit,” Dr Nave said.
Prior to taking the drug Stephanie could not support herself or sit in a standard wheelchair.
Now, she is able to push herself along.
While Dr Nave said the progress was amazing, she said medical doctors had said Stephanie’s long-term therapy had helped her achieve these new milestones.
“If you drink a protein shake and don’t go to the gym you are not going to see any benefit. It is the therapy and the drug that has helped her,” Dr Nave said.
She said the positive effects were almost immediate.
“The initial results were amazing, with her able to hold her feet while laying on her back only a few hours after recovering from anaesthetic from the first injection,” Dr Nave said. She was also able to contract her abdominal muscles, which improved her breathing, brace against movement and blow bubbles for the first time.
Stephanie’s most significant milestone so far has been learning to sit and stand in the pool.
“She said, ‘I’m standing up and I'm sitting down’. It made us hope that it’s still a possibility that she will walk,” Dr Nave said.
She said the progress her daughter had achieved gave the family hope other children who lived with SMA would be able to survive past childhood.
“It starts to allow you to see what a chance we’re going to make for other children with SMA and other children who will be born with SMA,” Dr Nave said.
The Nave family will continue to campaign to have the drug listed on the PBS for people with SMA who are over 18 as they are not covered under the current listing.