In 2009, Megan and Allan Donnell said goodbye to life as they knew it. They became parents, and they were thrilled.
Isla was a happy, healthy baby girl, and met all the milestones a newborn should.
“I remember the doctor saying ‘She’s perfect,'” Allan says. “And I thought, ‘We winged that pretty well.'”
The family settled into their new life in Sydney’s northern beaches, and two years later, Isla got a baby brother, Jude.
“We had the perfect family. That’s how it felt,” Allan says.
They didn’t know then that their children had a rare genetic condition, which Allan now describes as “every possible horrible disease wound into one”.
Early unshakable doubts
The first signs started to appear when Isla was around two.
While every child develops at their own rate, around that age they can usually form a sentence of four to five words. But Isla only had a lot of single words and wasn’t joining them together.
“Isla also had some motor skill delays, but I was reassured every time I went to see the paediatrician because she was still on the bell curve,” Megan says.
“It was a clear message that every kid develops differently and she’ll catch up, and don’t be neurotic.”
Despite the encouragement, Megan couldn’t shake her doubts.
A year later Isla started preschool, and the director asked Megan if she was worried about her daughter’s development.
“I said, ‘Yes, and nobody else is.’ And she said, ‘Well, I’m a little bit worried too,'” Megan says.
She recommended Megan take Isla to the child development unit at North Shore Hospital to do some tests. Doctors observed Isla, and also did a genetic screening test.
“The doctor said, ‘We think she has developmental delays but we’re not seeing anything consistent with a significant genetic disorder. My gut says she’s fine but if she’s not we’ll call you,'” Megan says.
The phone call
Megan will never forget the date the test results came in: May 30, 2013.
At the hospital, she and Allan were ushered into a room full of experts: paediatricians, geneticists, social workers.
“They start to describe that they’ve found some