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Research trials key to finding better treatments for Fragile X

Eight-year-old Lachie is a prolific potato peeler. Most dinners in the Birtchnell household contain potatoes but not that mum Brydi is complaining about the number of spuds her family has to digest every week.

She lights up when she talks about how much Lachie enjoys cooking because many things usually come as a challenge due to his disability.   

Lachie has Fragile X, a genetic condition that causes a range of developmental problems, including learning disabilities, behavioural issues such as autism, speech and language impairments, sleep problems, anxiety, and severe difficulties with regulating stress and emotions. The disorder, which affects one in 4,000 children born every year, is caused by a faulty switch on a gene called FMR1, located on the X chromosome.

Lachie was diagnosed at age three after Brydi noticed he was missing developmental milestones.  

“He wasn’t sitting or rolling, he couldn’t speak and didn’t walk until he was 20 months old,” she said. “He was also always irritable and had constant ear infections, which we came to learn was a tell-tale sign of Fragile X.  

“The diagnosis came as a complete shock as we had never heard of Fragile X before. We had all the pregnancy genetic screening but Fragile X wasn’t included at the time. After researching the condition, we grieved for what his future would look like.”

Brydi said the anxiety aspect of Lachie’s condition was the toughest to deal with as a family.

“Visiting places where you have to line up or spending quality time at a local playground just aren’t possible,” she said. “Lachie follows a set routine and even a slight change can cause him great distress.” 

To help with Lachie’s anxiety, sensory issues, and poor fine motor skills, he has speech and occupational therapy. 

Brydi said with a 50 per cent chance of passing Fragile X onto her future children she turned to IVF to have her second child, William, 3, and third child, Harvey, 8 months.

But Brydi said despite his disability, Lachie was like most eight-year-old boys.

“He is funny, cheeky, very caring and affectionate towards his siblings, and enjoys playing games,” she said. He is also a very good cook. He helps me cook dinner every night and loves the routine of peeling potatoes. We are lucky that potatoes are such a versatile vegetable.”

Brydi said she was thankful that scientists at the Murdoch Children’s Research Institute (MCRI) were conducting trials and studies into Fragile X.       

“We are hopeful that one day new treatments and better screening processes are found for Fragile X to help families like ours and those who will have a child with the condition in the future,” she said.

At MCRI, a team of scientists led by Associate Professor David Godler and Professor David Amor is dedicated to Fragile X research.

They have developed world-first genetic tools that may make it possible for Fragile X to be included as part of the newborn heel-prick test. The team is currently researching the cost of raising a child with Fragile X to show that routine screening is cost-effective.

“A diagnosis for Fragile X often isn’t made until the child reaches school age,” Associate Professor Godler said. “A delayed diagnosis and failure to recognise and manage Fragile X means that families may not receive the best early interventions.”

In 2020, Associate Professor Godler led a research project that found a new one-step test can more accurately and timely diagnose people with a Fragile X than the current testing regime.

People also have the option when planning a pregnancy to get carrier screening. Carrier screening gives people knowledge about their chance of having a child with Fragile X and other genetic conditions, and time to consider further testing or reproductive options.

For more on Associate Professor Godler’s research and MCRI Fragile X projects click here