Did you miss Tuesday’s national media coverage of Fragile X? If so, just make sure to tune into 6.30 with George Negus tonight on Channel 10 to watch Emily Rice’s report on the condition. Emily interviewed two families living with Fragile X – the world’s leading inherited cause of intellectual disabilities such as autism.

Here’s a quick preview of the Cohen family’s incredible story.

Medical Director and founder of the Fragile X Alliance Clinic, Dr Jonathan Cohen has been working with families who carry the genetic condition after his son’s diagnosis with Fragile X took years.

Dr Cohen’s wife is a carrier of the Fragile X gene and his son, Michael, 24, has Fragile X Syndrome (FXS). Despite coming from a medical family, Michael was diagnosed with Fragile X quite late – at the age of 7.

Dr Cohen and his wife searched for diagnoses for Michael for years. Despite having no family history of Fragile X, they took Michael to paediatricians, speech therapists and public child health specialist groups, with no success. They were incorrectly told by a leading paediatrician that Michael had Asperger’s. A simple blood test for Fragile X was never mentioned to them. Then one day Dr Cohen’s brother was speaking to his friend, a geneticist, about autism and his friend suggested that anyone with autism spectrum disorders be tested for Fragile X.  This led to a consultation with a clinical geneticist and Michael was subsequently diagnosed with FXS.

While Michael presents well, he has intellectual disability and some emotional issues. He is currently working part-time in an aged-care home as a hospitality assistant and drives to work.

A simple DNA / blood test for Fragile X was developed in 1991 and is available via a Medicare rebate. Dr Cohen (and HGSA guidelines) recommends that the test should be performed on anyone with developmental delay or autism spectrum disorders at any age, with or without a history of Fragile X. Fragile X can be subtle. For instance, an individual can be very quiet, withdrawn and just have learning problems at school. At the other end of the spectrum, an individual child can have prominent autism and get very distressed and upset. Other reasons to test include early ovarian insufficiency/menopause or a Parkinson’s-like tremor/gait disorder in older individuals. 

1 in 150 women carry the gene, any of whom can have an affected child. Testing allows women to access the full range of family planning options.

If diagnosed early enough, early interventions can occur. The Gillard Government is the first Australian Government to recognise the important role of early intervention for people living with Fragile X. This month they nominated Fragile X as one of five conditions for which families with children aged six years and under with Fragile X can access early intervention services over three years, as part of its $147 million Better Start Initiative.

Early intervention measures for Michael have included speech therapy, occupational therapy, psychology, medications and behavioural management. Learning to manage Fragile X has made Michael a lot more relaxed now, and able to live and function within society.

Dr Cohen opened the first specialised multidisciplinary clinic for FXS in Australia in 1996, and now manages a large percentage of known families affected by FXS in Victoria, as well as many individuals and families throughout Australia and New Zealand. He is also President of the Fragile X Alliance Inc in Australia, a member of the Scientific and Advisory Committee, National Fragile X Foundation, USA, Adjunct Senior Research Fellow with the Centre for Developmental Disability Victoria, Department of General Practice, Monash University, and Honorary Research Fellow, Murdoch Childrens Research Institute. Dr Cohen is closely involved with clinical, educational and research areas in general practice, in particular with FXS both in Australia and overseas.

More information

For resources, support and links, visit the Fragile X Association of Australia. Donations to help provide treatment, early intervention and raise awareness of the condition may be made by calling 1300 394 636.