Margaret Tappert is determined for more people to learn about Fragile X Syndrome. "The more people know about it, the more people can do checks."
The Moorland-based grandmother discovered she was a carrier at the age of 67 when some of her grandchildren were diagnosed.
She has since immersed herself in learning what she can and encouraging people to be tested, even before they have children.
Fragile X Awareness Day on July 22.
The Fragile X Association of Australia describes the syndrome as the most common known cause of inherited intellectual disability and the most common known single gene cause of autism spectrum disorder.
It occurs when the repeat expansion of the FMR1 gene is over 200 (termed the full mutation) and can cause intellectual disability, specific facial features, and behavioural challenges including autism, ADHD, and social anxiety.
Fragile X Syndrome can occur in both genders although males are more frequently and typically more severely affected than females.
People living with it experience the effects throughout their lifetime and varies from person to person.
And while it isnt very well known, Margaret said it is far more common than people think.
One child is born every week with the syndrome and 20 are born with the carrier gene every week.
She said at the time she discovered she was a carrier, she was told it was very rare.
But there are 100,000 people in Australia with it. Thats increasing and theres more awareness.
A DNA test is needed to find out whether you have it or are a carrier and she said it normally traces back to the grandparents.
Margaret also explained that a male carrier cant pass it on to his sons but will pass it on to all of his daughters, while a female carrier can pass it on to both males and females, although the risk is only 50 per cent.
Its the XX chromosome.
Fragilex.org.au is currently conducting a survey into the costs to families raising and caring for children and adults with Fragile X syndrome.