STEPHANIE Nave has got a whole cheer squad behind her.
Doctors, therapists and her family have teamed up to give the three-year-old the most healthy and independent life possible, in the face of a progressive neuromuscular disease.
Team Stephanie has three missions: halt the progression of spinal muscular atrophy (SMA) by lobbying for access to promising treatments, keep her lungs strong, and foster every opportunity for happiness and play for this clever child.
Amanda and Mark Nave’s coping strategy since their only child was diagnosed with SMA at 18 months is to appreciate the “now”.
This mindset has allowed them to relish the arrival of Stephanie’s “legs”, her Wizzybug electric wheelchair on loan to them from Yooralla.
The chair, which she controls by joystick, helps provide independence to a curious girl who can’t hold herself up, and its fun colour and big eyes often help start conversations with people she meets.
They are grateful for the ingenuity of Royal Children’s Hospital occupational therapists who look for new types of technology to boost her independence, or conjure clever strategies for imaginative play and social interactions.
They are fuelled by the knowledge that alongside Stephanie’s doctor, RCH director of neurology Professor Monique Ryan, they are standing up on behalf of all SMA families to lobby the federal government for subsidised access to the drug Spinraza — the first approved treatment for this muscle-wasting disorder — for all children with SMA.
The drug, which has a list price of about $1 million for the first year, has increased the strength and endurance of the most severely affected children. It is currently being provided free of charge to these children by the drug company.
Mrs Nave said she was hopeful the drug may allow her daughter to stand independently, or at least help with a transfer.
“There are 25 drugs in development for SMA at the moment,” she said.
“It’s all very exciting on an academic basis, but frustratingly slow when you’re trying to get your child access to them.”
Just because Stephanie has the physical abilities of a four-month-old, don’t assume there is something wrong with her intellect.
“I remember Monique told us the first time she met us: these children are usually pretty smart. They can sit there and study, and have really active minds,” Mrs Nave said.
Stephanie can count past 100 and has started reciting times tables. She can narrate some of her favourite books in their entirety.
“One of our coping strategies has been not to think too far into the future,” Mrs Nave said. “But I would like her to have a life expectancy that enabled her to do what she wants to in life. It’s always about quality over quantity.”
To read the original story, visit the Herald Sun website.
Originally published in the Herald Sun, Monday March 26, 2018
Words: Brigid O’Connell
Images: Jason Edwards