Category Archives: Uncategorized

Click here : to watch Mike training Our board member, Mike Tozer (aka #fastsuitguy) has a very busy 6 weeks ahead…. The Sydney City2Surf is the biggest fun run on the planet, so they say.   And Mike and Helen have a … Continue reading

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Study backs wider carrier screening for Fragile X syndrome

It is estimated that 1 in 250 women are carriers of the Fragile X premutation. These women may be at risk of having a child affected by Fragile X. Testing for Fragile X carrier status is currently available, but current … Continue reading

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Video: When Should a GP Consider a Diagnosis of Fragile X?

When should a GP consider a diagnosis of Fragile X, and why is a diagnosis important? In this 4-minute video Dr Jonathan Cohen from the Fragile X Alliance clinic discusses developmental delay and other symptoms which warrant referral for a … Continue reading

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Video: The link between Fragile X and POI

25% of women whoa re carriers of Fragile X will undergo Primary Ovarian Insufficiency / early menopause.  If anyone has undiagnosed early menopause they should be screened for the FMR1 permutation. Professor Rod Baber is from the University of Sydney, … Continue reading

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Video: Diagnosis: A parent’s perspective

At a very early stage Mike and Helen could see the challenges with Josiah’s development – across the board Josiah was missing milestones. They were very concerned to understand the cause of the delay. It took time and a great … Continue reading

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Video: Health management and FX: a parent’s perspective

Cynthia Roberts’ adult son Dan has Fragile X syndrome.  In this 3-minute video Cynthia reflects on the role a GP has in managing Dan’s health, and the challenges posed by Dan’s inability to communicate health issues to those around him. … Continue reading

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Orange FX scarves!

These large wrap scarves are perfect for keeping out the winter chills!  Soft acrylic, and warm! $25.00 each including postage. (Australian orders only) ORDER: ONLINE at this link:          http://playfultreasures.com.au/shop/fragile-x-scarf/ or BY PHONE:                         call us on 1300 394 636 Limited supply!

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New article: Fragile X-associated disorders: Don’t miss them

Published by RACGP. Authors:  Dr Rachael C Birch, Dr Jonathan Cohen, Prof Julian Trollor, July 2017. Background Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions … Continue reading

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June Newsletter | Passion for sport, Awareness month July, Guinness World Record for Fragile X, Health assessments

Our June newsletter covers a range of family stories, the work being done to increase understanding of Fragile X in the medical and allied health communities, and Fragile X Awareness Month in July. There is also a focus on a … Continue reading

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Membership renewals

Members whose membership is current to 30 June 2017 are invited to renew their membership of Fragile X Association for the financial year 2017-2018. To renew your membership: 1.   USE THE MEMBERSHIP FORM Print and complete the attached form. FXAA Membership … Continue reading

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