Dubbo: Five-year-old Lyla Riley’s fight against rare and incurable Chromosome 8 deletion condition

A five-year-old girl from the state’s central west has been diagnosed with an “incurable” condition which only 550 people have across the globe. Here’s Lyla’s story.

Lyla Riley and her parents Emily and Nick. Photo: Supplied.

Parents of a five-year-old girl filled with love from a regional town in the state’s central west have “finally” received a diagnosis for their daughter’s condition after more than three years of medical rejection.

On August 20, Dubbo parents Emily and Nick Riley were told their daughter Lyla had Chromosome 8 deletion – a rare and incurable chromosomal condition impacting her intellectual and global development, movement control, speech, language and social interactions.

Little Lyla is one of 550 people in the world diagnosed with the condition.

“When she was born, she was a little NICU baby, she was quite jaundiced, had a little bit of, they thought, a liver problem which turned out to be fine in the end,” Ms Riley said.

Lyla Riley. Photo: Supplied.

“Moving forward, she literally seemed like your normal, happy, milestone hitting baby.”

Ms Riley told this publication Lyla had her first seizer on New Year’s Day in 2021 and they had been fighting to get a diagnosis since.

She said doctors in the Dubbo Base Hospital and John Hunter Hospital in Newcastle would tell them it’s “probably just a virus” or “a bug”, however the couple had a “suspicion” it was something greater as Lyla’s social interaction declined.

“She went from being able to talk in like three or four sentences, going to the toilet, to being absolutely mute and back in nappies full-time,” Ms Riley said.

Lyla Riley in hospital. Photo: Supplied.

She said doctors did not take her seriously until Lyla had a 4.5-hour seizer activity after sedation, and was prescribed with anti-seizer medication.

After years of being told “she’s fine”, a neurologist in Sydney ordered an overnight brain scan for genetic testing in July and, a month later, she was diagnosed.

Lyla will be at greater risk of leukaemia and heart conditions with the diagnosis, as well as experiencing muscle, joint and teeth issues.

Currently, Lyla has ongoing appointments with a physiotherapist, occupational therapist, and is trying to find a speech pathologist.

Nick and Emily feel relieved after learning about Lyla’s diagnosis. Photo: Supplied.

“Now we finally have a diagnosis of what it is, it’s a relief to know that we were right. There was something wrong with our little girl,” Ms Riley said.

However, she expressed it was “daunting” as they could not do anything about it.

“It’s something that will affect her forever, and we don’t really know what the future holds, whether it would progress worse or stay as it is,” she said.

Ms Riley says the daycare Lyla attended was helpful as she could interact with staff and the other children.

“She’s definitely not your average five-year-old, she’s got a lot of challenges, but we’re getting there,” she said.

A GoFundMe page has been set up to help cover ongoing medical costs, with each visit to Sydney averaging about $1500.

The family are thankful for the donations so far, along with support from family, friends and the Dubbo community.