Ballarat landmarks lit up orange on Friday to help raise awareness of Fragile X syndrome - the leading cause of inherited intellectual disability.
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Jimmy Jones, 14, and his family and friends spent the evening at the Lakeview Hotel admiring the orange hue of the Lake Wendouree fountain, reflecting on what it means to them.
Jimmy was diagnosed with Fragile X when he was 14 months old and since then his family have been working to raise awareness of the disease and to advocate for screening for the syndrome to be included in the routine 'heel prick' test administered to newborns.
It was a series of small signs and developmental delays when Jimmy was a baby that led mum Sarah Jones to realise something was wrong - particularly when she compared his development to that of his older sister who was born 15 months earlier.
"Little things like he didn't make eye contact, was a bit more stiff in his body, he didn't feed well ... lots of things together," she said.
They began attending Pinarc Disability Services and undertaking therapies including occupational therapy, speech, hydrotherapy and more and eventually they received a diagnosis of Fragile X.
"There was a bit of a grieving process after the diagnosis, then the question of how we will move forward," Ms Jones said.
Around one in 3600 males and one in 6000 females have Fragile X syndrome - which causes developmental disability and learning difficulties, speech delays, ADHD, anxiety, sensory sensitivities, epilepsy and autistic-like behaviours. About half of boys with Fragile X syndrome are also diagnosed with autism spectrum disorder.
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Because of its similarity to autism, Fragile X is often under-recognised and misdiagnosed, leading to treatment delays.
Ms Jones said Jimmy struggled with speech until he was about eight, and had grown in to an "entertaining character" who is passionate about golf, loves the beach at Anglesea, and enjoys spending time with his mates at Ballarat Specialist School.
"We have grown and learned so much from having Jimmy and we are probably better people for it," Ms Jones said. "Over our journey we've met lots of people and it's been a fantastic thing for our two girls to learn empathy and understanding about what other people are going through. There's not a lot of awareness about Fragile X and we are really trying to get the heel prick test included because Fragile X is the most common inherited form of autism."
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