Ashley Clifford is one of only 50 people with Beck-Fahrner syndrome

The nine-year-old from Florey is believed to be one of only two people in Australia and 50 in the world living with the rare genetic Beck-Fahrner syndrome.

The syndrome, a genetic mutation, manifests in a myriad ways, including the rare combination of intellectual impairment and autism.

Ashley, who has almost every one of the 26 features of the syndrome, also has issues with her sight, kidneys, hearing and growth.

While her condition has been life-long, it was only when she was four that genetic testing was finally able to pinpoint it and give it a name.

Until then, Ashley, and her parents Hugh and Belinda were on a merry-go-round of endless tests and appointments, trying to understand the challenges their daughter was dealing with every day.

"I suppose the biggest effect is her intellectual disability," Hugh said.

"She relies very heavily on routine and repetition as a way to absorb information. It may take her 50, 100 times going through the same process so that it becomes a habit."

Now, the family is hopeful Ashley can participate in research underway in the United States to better understand Beck-Fahrner syndrome and the way it affects physical and mental development.

They also hope to meet other families living with the syndrome and to understand what may lie ahead for their little girl.

"It's been amazing because we didn't actually think this day would come because we've gone so long hearing that she's a difficult one and they couldn't figure it out," Belinda said.

The family has, from the start, had to wait for the research to catch up, to provide some clarity to their situation. For Ashley to be in the thick of the latest research, could be life-changing.

Hugh said they hoped it would also help others living with Beck-Fahrner syndrome, those who might unknowingly have it and those children who would be born with it in the future.

"For us, it's not necessarily the final answer, it's just the next step in the journey to provide Ashley with the best chance she can have for success," he said.

The Cliffords, who are public servants, say the cost of managing the syndrome is considerable. Ashley, with support, is able to attend grade three in a mainstream school.

She also has about 14 appointments a fortnight with medical specialists and therapists, working on everything from her speech to her movement.

"That's just to give Ashley the support she needs to survive in society," Belinda said.

The couple approached 25 different foundations for a grant to help them get Ashley to the United States to participate in the research. When none of the overtures were successful, they started a GoFundMe page as a last resort.

Belinda said a big part of trying to participate in the research was to shine a light on Beck-Fahrner syndrome and help the broader community to understand it.

"We find it's very isolating, she's often excluded from things. It's often the child with the disability who is labelled as the naughty kid," Belinda said.

"From setting up the GoFundMe page we've had people reach out and go, 'Wow we had no idea you were battling this' and 'We knew she looked different but we didn't understand what she had'."

Ashley, meanwhile, gets on with life. She loves balls and cuddles and playing with her six-year-old sister Sophie. Like any parent, Hugh and Belinda just want the best for their child.

"She's a pretty happy kid and her sense of humour and her character shines through," he said. "Every now and then you'll turn around and say, 'What did you say?' and she'll just be there smiling and laughing."