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

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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• 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.

• 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

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.

Download the Flyer

August saw the official opening of our Association’s new headquarters in Manly. The opening was attended by Manly MP MIke Baird and Manly Mayer, Jean Hay, medical experts and families impacted by Fragile X.

Here is a roundup of the major media coverage:

TV Coverage

10 National News  Mel Mikkelsen talks about Fragile X Syndrome. It features her son Tom and one of our Board Members, Dr Helen Heussler.

Click here to view the embedded video.

6.30 with George Negus starring Leah Pitt and son Lachlan, Jonathan Cohen and son Michael.

Sky News – Researchers to study mysterious syndrome with Christine Kelleher

Christine being interviewed on Sky News

Jocelyn at the studio lending moral support

Radio

• ABC World Tonight Audio and Transcript  board members Professor Kim Cornish and Christine Kelleher talk about the upcoming, world first, nationwide study of male and female carriers of Fragile X. There are around 70,000 carriers of Fragile X in Australia.
• Mornings with Dugald Saunders – interview with our Association President, John Kelleher

Newspaper Articles

• Researchers Tackle FX Syndrome Mysteries Sydney Morning Herald with the same article republished by ninemsn and yahoo news Queensland
• Brisbane Times Do you have Fragile X syndrome without knowing it? Greg Peate talks about his stepson, Peter, and adopted son, Geoffrey, who are both affected by Fragile X Syndrome.
• Manly Daily Carers given X factor for common disability
• Toowoomba Chronicle Doctors unite to unravel autism gene Associate Professor Julian Trollor, University of New South Wales, discusses Fragile X Carrier symptoms. Simone Zaia talks about her efforts in trying to conceive.
• Manly Daily’s coverage of the Official opening of the Fragile X Association’s new headquarters at Suite 6, Level 3, 39 East Esplanade,Manly NSW 2095
• Senator the Hon Jan McLucas’s Media Release Fragile X Awareness Month recognised today

Online Articles

• The Australian Healthcare and Hospitals Association (AHHA) Fragile X gene determines late-onset dementia

Although not specific to Awareness Month in Australia we must mention the wonderful National Fragile X Foundation Awareness 2011 site. The site contains over 150 personal stories which show the many ways that those with Fragile X are all unique, self-determining individuals.

Fragile X Syndrome Fact Sheet – Learn basic facts about fragile X syndrome. *

Families and Fragile X Syndrome
This booklet from the National Institutes of Health for parents and families explains fragile X, its causes, its symptoms and associated disorders, and its treatments. The booklet also provides snapshots of many families affected by this disorder. *

Do I have Premature Ovarian Failure (POF)?
This booklet from the National Institutes of Health for women and their families explains POF, its possible causes, its symptoms, and its treatments and explains some research on the condition. *

NIH Research Plan on Fragile X Syndrome and Associated Disorders

This scientific plan from the National Institutes of Health (NIH) outlines research goals and objectives on fragile X syndrome and related disorders for the NIH Institutes, including research related to fragile X syndrome and its associated disorders.*

* From Centers for Disease Control and Prevention