BELINDA Calabria only found out about six years ago that Fragile X syndrome existed in her family.
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Her nephew was not meeting his developmental milestones, which led to thorough testing and a Fragile X syndrome diagnosis.
Fragile X syndrome is a genetic condition, which is the leading cause of inherited mild to moderate intellectual disability.
Wodonga-based Mrs Calabria said testing was advised for the maternal and paternal relatives of James, now 7.
"We all got tested and we found the syndrome came from our side of the family," she said.
"My dad was a high-functioning carrier; he is a music teacher and not affected by the syndrome.
"My sisters and me were also high-functioning Fragile X carriers; I'm a teacher, Sheree is a sonographer and Nat is a physio."
More than 90,000 Australians are impacted by the syndrome, either as carriers of the gene mutation that causes Fragile X syndrome or living with the syndrome.
Now mum to Violet, 3, and Matilda, 7 weeks, Mrs Calabria said by knowing she was a carrier she undertook genetic testing in utero.
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Fragile X syndrome is typically caused by an expansion of the CGG triplet repeat within the FMR1 (fragile X mental retardation 1) gene. Genetic testing determines the number of CGG repeats in the FMR1 gene. Normally, there are between 5 and 40 repeats; Fragile X syndrome occurs with more than 200.
"We were very lucky that our girls are not carriers and won't have to have genetic testing in pregnancy," Mrs Calabria said.
"With repeats over 200, you usually start to see the effects of the Fragile X syndrome such as developmental delays and fine and gross motor skills.
"The testing is free and it's something some people may be interested in."
The City of Albury and Wodonga Council will support a national campaign on Wednesday night to light up landmarks in orange to raise public awareness of Fragile X syndrome.
For the first time Albury Entertainment Centre and Wodonga Water Tower will join 50 landmarks in other cities and regions in lighting up for Fragile X.
Fragile X Association of Australia executive director Wendy Bruce said the national charity had an essential role to highlight the need for early and accurate diagnosis to secure the best life outcomes for those affected by Fragile X syndrome.
"The success of this light-up campaign is a tribute to the city and regional councils across Australia, which even in these current difficult and challenging times, have committed to support those in their communities who have a disability," she said.
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