Little Evelyn Murray’s face is full of concentration as she lifts her feet and pushes off down the hill, squealing with delight on her cappy coaster just like any other five-year-old.
But it’s something her doctors and parents never thought possible.
“It’s one of those moments where you look at her and realise that’s what regular kids do, she’s riding a bike!” mum Melissa tells Woman’s Day.
“It was definitely a proud parent moment,” dad Shane adds.
Between her blond locks and wide eyes, Evelyn can bring a smile to anyone’s face.
But looking at her you’d never realise she’s one of just five people in Australia with an extremely rare genetic disorder, only discovered in 2011 – a mutation of the STX-BP1 Gene, which normally helps the neurons in the brain talk to each other.
STX-BP1 or ‘Syntaxin-binding protein helps the neurons in the brain talk to each other. The mutation’s impact varies in every child, but brings four major symptoms across the board: Seizures, movement disorder, lack of speech and intellectual impairment.
There are only 5 people in Australia that have this disorder.
“She was eight weeks old before we realised something wasn’t right,” Melissa recalls.
“She started having seizures, but when she was nine months they just stopped.”
“We were thanking our lucky stars, but by then we realised she wasn’t meeting the milestones you would expect.”
It was an agonising time for the Brisbane parents who just wanted to know what was wrong with their little girl.
Even doctors thought she’d likely never walk or talk and when her bloods were sent to a research facility, it took 18 months for the results to come back.
Evelyn is living life to the fullest.
“For so long we didn’t know what we were dealing with,” Melissa explains.
The couple dived head first into helping Evelyn’s development, finding her all kinds of therapists, nutritionists, chiropractors, and a genetic paediatrician.
Eventually she learned how to crawl by the age of one and began walking a year later, things her doctors never thought would be possible.
“Not having a diagnosis initially I think has pushed us to push her,” Melissa quips.
“Seeing her take her first steps you can’t describe it.”
The five year old has defied all expectations.
Since then little brother Edward, now 11 months, has joined the family helping the parents realise how far Evelyn has come.
But the fact she is nonverbal and has a limited general understanding of what people say to her, has brought its own struggles.
“Her communication has really developed. She uses an iPad app to talk, but she’ll never be able to tell us how her day was, she doesn’t have that understanding,” Shane says.
As her parents talk to Woman’s Day, Evelyn shows off her latest achievement and starts humming ‘twinkle twinkle little star’ in their ears.
“The big thing for us is for her to be happy and healthy,” Shane says.
While Melissa muses, “I think if the seizures stay away then everything is just wonderful, we can deal with the rest.”
For now Shane and Melissa want to make the most of their time with Evelyn while she remains seizure-free, as there is a chance they could return.
To help Shane and Melissa take Evelyn to America and meet other families with a similar condition visit www.gofundme.com/a-rare-genetic-opportunity
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