'Our daughter has a genetic disorder, but we still don't have a proper diagnosis'

“I have so many unanswered questions. We don’t even know what her future looks like."

Queensland mum Krysten Davies was 28 weeks pregnant with her second child Olivia when a nurse raised some concerns about the growth of her baby.

Krysten had gone in for a routine growth check, and the woman conducting the check determined her baby was smaller than she should be.

That kicked off an intense period of checks during the later stages of Krysten’s pregnancy.

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“I was having ultrasounds every week until 32 weeks,” she told Kidspot.

“She wasn’t completely not growing, but wasn’t growing as usual.

“They decided to induce me thinking she’d grow better outside, so I was induced at 36 weeks, and she was really small.

“She spent some time in the ICU and failed to put on weight, which led us to a paediatrician.”

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Olivia was born with a gene deletion and a gene duplication, but her only official diagnosis is global developmental delay. Picture: Supplied

It wasn't until Olivia was six months old that her doctor said she was having developmental issues. Picture: Supplied

"I have so many unanswered questions"

Olivia’s size was the first sign of something being wrong, but it wasn’t until she was six months of age that the paediatrician told her parents she wasn’t developing “how she should be”.

“Both of her eyes turned in, she wasn’t rolling, she really wasn’t doing any of the age-appropriate stuff,” Krysten said.

“We then spoke to a friend who told us to get some genetic testing done, and our paediatrician thought that was a great idea.”

When Krysten and her husband got the results back, they discovered Olivia had a 2Q deletion and a 22Q11.2 duplication.

Despite the testing, the only diagnosis Olivia received was for global developmental delay.

“There’s not enough research to have a formal diagnosis of anything,” Krysten told Kidspot.

“We haven’t been given much information from the geneticist either.

“I have so many unanswered questions. We don’t even know what her future looks like.

“If we had a diagnosis, we’d be able to deal with it, but I feel like I grieve for her future, because we just don’t know.”

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"She's doing so well in her therapies"

Despite the lack of a diagnosis, Krysten told Kidspot Olivia, now three, is responding really well to both physical and speech therapy.

“We’ve seen therapists since she was nine months old, and she’s doing really great,” she said.

“Her speech therapist believes her delay is due to ear infections, and she seems to think Olivia will go to a mainstream school and catch up in her speech.

“She’s doing so well in her physical therapies as well. Once she was walking, there was no stopping her.”

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Krysten's family is desperate for an official diagnosis for Olivia. Picture: Supplied

Many families are just looking for a diagnosis

Krysten is sharing her daughter’s story to raise awareness for Jeans for Genes Day, which is celebrating its 30th year on Friday, August 4.

“We’ve been fundraising (for Jeans for Genes) for two years now,” Krysten said.

“People should definitely invest their money in Jeans for Genes if they’re looking for a charity to support.

“My family, and many other families out there, are just looking for a diagnosis, but we don’t have it due to the lack of research.”

Gene and stem cell therapies offer some of the greatest hope for families, and the scientists at Children’s Medical Research Institute are leaders in these fields. Associate Professor Leszek Lisowski said helping families is what gets him out of bed in the morning.

“It is a very emotionally demanding job that we do when you meet these families,’’ Associate Professor Lisowski said. “We have this pressure of knowing the impact of our work. But I find it very rewarding to be doing something that matters and that one day may help someone.

“Genetic disease can destroy a child, parents, and a family and trying to change that is very motivating.’’

To get involved with fundraising, or to donate to Jeans for Genes Day, click here.

Originally published as 'Our daughter has a genetic disorder, but we still don't have a proper diagnosis'