Margaret Tappert calls herself a walking, talking contraceptive.
She is on a mission to raise awareness on Fragile X syndrome and its associated disorders, and will be holding an information stall outside Cafe Mediterrano in Victoria Street, Taree on Saturday, July 22 from 9am to noon.
Fragile x disorders are genetic, with Fragile X syndrome being the most common known cause of intellectual disability, and most common known single gene cause of autism spectrum disorder.
Margaret found out she was a pre-mutation carrier of the gene a little over 10 years ago.
“My daughter has five children with this. And the eldest daughter was 15 when she found out her male sibling, who was five at the time, had it and then she was tested and she had it,” Margaret said.
Margaret explained that having all of the children one family is unusual, as there is only a 50/50 chance that the mother will pass it on.
“With the oldest daughter, she’s not so affected. At school she was also a bit slow, but because the females have the extra x chromosome they’re not so affected but they have high anxiety and problems with eye contact. She was always quite isolated at school. She has overcome a lot of these things herself. She’s great,” Margaret said.
“But the boys - they’re always going to have care.”
An estimated one in 3600 males and one in 4000-6000 females are born with Fragile X syndrome every year.
Every week in Australia, one child is born with the syndrome, while 20 children are born as carriers.
This means that an estimated one in 800 males and one in 170 females are carriers and have the potential to pass it on to their children.
Which is why Margaret urges people to have DNA testing before considering reproduction.
Carriers themselves may not go unaffected, though will not suffer the intellectual disability. Fragile X-associated Tremor Ataxia syndrome is often misdiagnosed as Parkinson’s disease, and 20 per cent of female carriers go on to develop FXPOI – Fragile X-associated primary ovarian insufficiency, often leading to early menopause.
Newborn screening is currently being investigated.
Who should be tested?
The Fragile X Association of Australia recommends the following groups of people be DNA tested:
- People with a family history of Fragile x syndrome or intellectual disability.
- People with an intellectual disability or developmental delay, combined with a diagnosis of anxiety, ADHD or autistic behaviour.
- Men or women over 50 with ataxia and/or intention tremors or Parkinson’s disease.
- Any woman with primary ovarian insufficiency or early menopause.
If a member of the family is diagnosed with Fragile X-associated disorders, it is important that all immediate and extended family members be tested.
For further information visit www.fragilex.org.au.