How an early Fragile X diagnosis was vital for this Victorian family

OPPORTUNITY: Early awareness about Fragile X allowed Brody's parents a chance to consider best supports for him, like Ballarat Equine Assisted Psychotherapy.

OPPORTUNITY: Early awareness about Fragile X allowed Brody's parents a chance to consider best supports for him, like Ballarat Equine Assisted Psychotherapy.

THERE were times Leonie Lewis started to second-guess herself. Doctors would tell her everything was fine or that boys tended to develop at a slower rate than girls.

Leonie said Brody was not meeting key developmental milestones, like being able to hold his own head up. Brody was 13 months old when diagnosed with Fragile X, an inherited intellectual disability that is also often linked with autism spectrum disorder. Fragile X can cause behavioural, emotional and learning challenges.

The family was living in New York City at the time and taking Brody to world-renowned specialists but it was a paediatrician who made the definitive diagnosis with a blood test.

Fragile X Awareness Day is Wednesday with Ballarat in Victoria lighting up orange for the first time in unison with more than 50 city landmarks across Australia. In Ballarat, look to Centenary Fountain on Lake Wendouree and Eureka Stockade Memorial Park's fountain.

Centenary Fountain at night. Video: City of Ballarat

Leonie hoped this move might help shine a light on a possibility for other families to explore.

Diagnosis allowed Leonie a chance to map out what might be the best support for Brody as he grew up. She had family in Ballarat, but also had heard about the services Ballarat Specialist School offered and there was the appeal of a quieter environment, compared to NYC, for Brody and his sensory sensitivities.

"Once we had a diagnosis we could look at an expected path he might take and supports he might need," Leonie said.

"...Lots of kids diagnosed with autism can't possibly show traits until they're a few years old. This, you can get a blood-draw diagnosis when they're a baby and you can get services in place. We were lucky he was diagnosed at 13 months, but it could have been known much earlier."

Brody, now 13, is now learning lots of life skills but still needs high care. He loves horse-riding and support from Ballarat Equine Assisted Psychotherapy.

Every week one Australian child is born with Fragile X syndrome and 20 are born who are carriers of the Fragile X gene, according to Fragile X Association of Australia.

Sarah Jones, from Ballarat's Fragile X support group, said there were only a couple of known cases in the region until Ballarat Dance Awards started raising awareness the past couple of years.

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This story How an early Fragile X diagnosis was vital for this Victorian family first appeared on The Courier.