Dr David Godler and a team of leading researchers from Murdoch Children’s Institute have developed a innovative new test that could revolutionise the way Fragile X syndrome is screened and diagnosed.

The publication of Dr Godler’s paper detailing these findings has sparked a flurry of media reporting about the testing, serving to increase the awareness of Fragile X in the community.

If you would like to read more, below is the media release from the Murdoch Children’s Institute as well as some of the resulting media.

The story was covered across Australia in both radio and print media  including stories in the Melbourne Herald Sun, Gympie Times, The Melbourne Age, ninenewsmsm.com.au, WA Today.com, Sky News.com.au, Newsmedical.net, bigpondnews.com, The Hobart Mercury.

Innovative test could revolutionise Fragile X screening and diagnosis

Gympie Times Thursday Jan 19 2012 – Aussie Fragile X Test

Herald Sun Thursday 19 Jan 2012 – Help_for_fragile_X_victims

The Age Thursday 19 Jan 2012 – Breakthrough_in_diagnosis_of_autism

The Fragile X Association is now offering counselling to those affected by fragile X and their supporters. Our Counsellor Janie Roberts has a postgraduate diploma in counselling and psychotherapy.

Janie Roberts

The counselling service is free and is dependent on your  individual need so can either be offered on a one off basis or for the longer term.

Counselling – how may it help?

Sometimes people are reluctant to ‘burden’ their friends and relatives with their problems and can benefit from sharing them with a caring and empathic professional. This can reduce the sense of isolation, relieve some of the stress and strengthen the ability to cope. Families have also found it helpful to have an unbiased, gentle person to mediate in tricky areas or to assist in working out and facilitating family goals.

Most people feel at least slightly nervous when they initially attend a counselling session as they may not know what to expect. They may also feel that there is something really wrong with them in order to need counselling. This is not the case as we all need help at times and we also need to be understood and cherished in order to feel ok with ourselves. The counselling relationship offers this through unconditional, empathic and non-judgmental support. Counselling can be offered over the phone, via email or face to face in the Manly office. We are also able to visit individuals and families in their homes in the Sydney region.

What people have said about counselling sessions with Janie:

“I realised that I was talking to a professional, a person that I didn’t have to pretend to and someone who I didn’t feel guilty moaning and groaning to ….I am reminded of my skills and abilities and have a different outlook on life. My sincere thanks to Janie, not only for her professional input but also on the lovely manner in which she conducted our sessions. They were and are most valued.”
(N.W.)

“Janie assisted me with the fact that I was feeling like a failure and lost hope in my effectiveness as a carer and parent. She helped me address these issues and enlightened me about what she could see in me and the strength I had. I appreciated having someone to listen and understand my family and myself. She uplifted faith in myself and believed in me.”
(I.B.)

“Janie – What I appreciate about you:
Honest – owns up, real – admits her weaknesses, relates and settles me, likeable, easy to love, personable, has the ability to pour water on a fire, kindness, gentleness, vulnerability – an honest, carefree attitude, humble.”
(A. P.)

You can contact Janie on (02) 9977 0074, 1300 394 636 or  by email 

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The Fragile X Association of Australia Inc financial reports for the year 2010-2011 are now available for you to view online (PDF format):

• Financial Statements 30th June 2011
• Annual Report, Presidents Report 2010-2011

You can also find links to these and previous reports on our  Downloads Page.

Documents relating to the Fragile X Research Symposium, held in Brisbane on 4th October, 2011, are now available for download from this site.

• FragileX Research Symposium Brisbane – Agenda
• An examination of neuromotor and brain ‘signatures ‘ in FMR1 premutation carriers - Rachael Birch
• Novel Technology for Fragile X Population Screening – Dr David Godler, Dr Howard Slater, Dr David Amor, Dr Danuta Loesch

You can always find these and a range of other documents on our “Resources for Download” page

The Child Development Unit at The Children’s Hospital at Westmead is participating in a clinical trial testing a new treatment for Fragile X syndrome in adolescents. The treatment is a capsule and the medication is taken twice daily for up to 16 weeks.

To be eligible to participate in the trial, patients must fit the following criteria:

• Be aged 12-17 in otherwise good general health.
• Have a previous diagnosis of Fragile X based on genetic testing (full mutation)
• Have a caregiver who spends on average at least 6 hours a day with the study participant and is willing to supervise treatment, attend all study visits and assist with study assessments
• Have a documented intellectual disability (IQ score less than 70)

The study lasts for a total of 20 weeks and includes a 3-week screening period, 16 weeks during which patients will receive study drug or placebo and a one week follow up. All patients will receive a placebo at some stage during the study.

If you would like more details on the trial, please contact Dr Natalie Silove at the Child Development Unit on 9845 2829.

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Growing up with Fragile X Syndrome: The road to Marty Campbell is the new novel from Dr Robyn Iredale. Dr Iredale has a family history of fragile X syndrome that was first discovered when her son Marty was seven years old. She has lived through the ramifications of fragile X by being a carrier herself and passing on the syndrome to two of her children, through two brothers and two daughters of one of her brothers. This 50 year experience of fragile X makes her eminently competent to describe its intricate affects.

To be launched on the 29th October 2011 by Paolo Totaro, this is an essential read for all those affected or interested by the sydnrome. For more information on the book or how to purchase a copy please visit http://www.vividpublishing.com.au/fragilex.

‘This book provides a most personal insight into the many challenges of bringing up a young man with fragile X and also a message of hope for all parents and professionals involved with the syndrome. I urge you to read it.’  - John Kelleher, President, Fragile X Association Australia.

‘For anyone living with a child affected by fragile X, The Road to Marty Campbell is an essential read explaining this genetic condition and how, through love and support, independence can be achieved.’ – Dr Michael Field, Director of GOLD.

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