Scotland Island’s Robyn Iredale talks about the challenges faced by people with the genetic condition Fragile X syndrome and their caregivers’ struggles.
In Australia, around 90,000 people are affected in some way by Fragile X syndrome. This genetic condition causes intellectual disability, learning and behavioural problems, and health issues. Named for the first time in the late 1960s, there is still a lot which is not known about the condition.
Robyn Iredale, a resident of Scotland Island and a past president of the Fragile X Association of Australia, has 13 people in her family affected by it. “There are six siblings in my family, and three of us inherited the syndrome,” she explains. “I am a carrier.”
The condition carries from fathers to daughters, “but if it comes from the mother, it can go to sons and daughters,” explains Robyn. One of her three children has a full mutation of the syndrome.
Present from conception, Fragile X syndrome is caused by a faulty gene that leads to a deficit of a specific protein in the brain. The X chromosome looks broken when examined under a microscope, hence the title ‘fragile’.
Fragile X syndrome is a permanent condition, so a person affected by the syndrome will likely need lifelong support. According to the Fragile X Association, in around 50 per cent of families, a second child with Fragile X syndrome will be born before the older child is diagnosed. Early testing and screening are critical.
“My son is what’s called a mosaic which allows him to operate reasonably well in some areas,” Robyn says.
“But the doctors have always told me that my son was lucky I was a teacher and I was fairly aware of what was going on.” Robyn’s son works part-time in a hardware store and lives independently.
When her son was growing up, Robyn was a single mother and struggled to cope with the additional care he needed. “The person who saved me when I was raising my son was a social worker. She provided constant support.” So when Robyn joined the board of the Fragile X Association of Australia, she recommended counselling be made available to families.
The association now offers free specialist counselling, educational webinars and access to assessment clinics. It also connects families, which provides invaluable peer support.
Donations keep the charity going, and it has been supported for 10 years by the annual Manly Wharf Bridge to Beach race. Money raised funds specialist family counselling.
The association has done a lot of advocacy work, and from this year, Medicare will fund genetic screening for Fragile X syndrome. This means that carriers of the syndrome can conceive embryos via IVF, and have the embryos screened before deciding whether to continue with a pregnancy.
Robyn has written a book, Growing Up with Fragile Syndrome: The Road to Marty Campbell, about her son and the experiences of people living with him.
The proud Scotland Island resident was appointed a member of the Order of Australia (AM) for her work in education and intellectual disability in 2020.
For more information on this topic, see the Fragile X Association of Australia website.
By Patricia Alonso
