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

WP_20170119_019_Cynthia_cropCynthia 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.
Cynthia’s message to GPs is that it is VERY important for them to really listen to any concerns the carers may have around the health of their child who has Fragile X syndrome.
Many thanks to for producing this video.
Watch the video

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Orange FX scarves!

K A W in scarves for fbThese large wrap scarves are perfect for keeping out the winter chills!  Soft acrylic, and warm!

$25.00 each including postage.
(Australian orders only)

ONLINE at this link:
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.

Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed.


The aim of this article is to describe fragile X-associated disorders and identify specific considerations for general practitioners (GPs) during identification and management of these disorders.


GPs have a critical role in the identification of fragile X-associated disorders, as well as coordination of complex care needs. Prompt recognition and appropriate management of these disorders and potential medical and psychiatric comorbidities will have important implications not only for the affected patient, but also other family members who may be at risk.”

Read the full article here:

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

FX newsletter June 2017_cover pageOur 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 recent study which concluded that 37% of deaths of adults with intellectual disability in NSW are preventable.  This story also profiles the Comprehensive Health Assessment Program (CHAP), which is a resource intended to support GPs caring for adults with intellectual disability.

Read onscreen:

Or download to read:   FX newsletter June 2017_website


FX newsletter June 2017_cover page

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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:

Print and complete the attached form.
FXAA Membership Form_to 30 June 2018 or 2019

(a) Then post it to:
Fragile X Association, PO Box 109, MANLY NSW 1655.
(b) Scan and email it to:

2.   CALL US ON 1300 394 636
To renew your membership over the phone.

Membership fees remain at $25 for one year, and $45 for two years.


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Support needs of fathers of children with FXS – Australian study

Hunter Genetics logoLogo revised1USyd logo





If you are a father of a child or adult with Fragile X syndrome, we invite you to tell us about your experiences by participating in the project: 
‘The support needs of fathers of children with Fragile X syndrome’

The NSW Genetics of Learning Disability (GOLD) service and University of Sydney Master of Genetic Counselling program invites all fathers who are:
•   Over 18 years of age
•  Have at least one child (young or adult) with a Fragile X syndrome diagnosis
•  If the first diagnosis of FXS was made over 12 months ago
• You do not yourself have a Fragile X genetic result in the premutation or full mutation range
to participate in a telephone interview to explore your experiences surrounding your child/children being diagnosed with FXS and since the diagnosis.

If you decide to participate in the study, please read the participant information statement and sign and return the consent form (see pdf document below) or contact Rosie O’Shea who will send a recruitment pack.

Contact Rosie O’Shea via email at or 02 99264684, if you have any questions or would like a paper copy of the participant information statement and consent form sent to you.

FXAA FXS father study PIS+PCF 020517

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Fragile X syndrome: from Medical Observer

This article, written by Dr Jonathan Cohen, Professor Sylvia Metcalfe, and Dr Alison Archibald provides an excellent overview of Fragile X syndrome and its associated disorders.

Click here to open/read/download the article:  Fragile X syndrome Parts 1 and 2, from Medical Observer_2012

FX article_Medical Observer picPublished in Medical Observer in 2012, and provided on this website with the kind permission of Medical Observer.



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Home Among the Gum Trees: An American Family’s Amazing Australian Adventure

On Phillip Island

On one of our first confused and jet-lagged August mornings in Australia, I heard very loud chirps, hoots, and other unfamiliar noises coming from what I thought was our son’s ipad. I was about to tell him to turn down the volume on his nature show when I realized the sounds were outside my window. It still didn’t seem real that we were very far from our home in California, at the start of a four-month stay. Our family had an unforgettable experience living in Australia while I was serving as a Visiting Scholar in the Department of Social Work at the University of Wollongong.

Our 10-year-old son Quinn’s superpowers are his joie de vivre and many passions. He loves animals, garbage trucks, trains, Play-Doh, music, Peppa Pig, and much more. He also has full mutation Fragile X syndrome. As in our life at home, his disability added joys and challenges to the experience. His fondness for animals prompted us to spend a lot of time at Symbio Zoo and the Botanic Garden, and to see the Great Barrier Reef, the Phillip Island Penguin Parade, and Churchill Heritage Farm. His interest in music led us to take a risk and bring him to his first large concert on our last day in Australia, to see the Wiggles. He enjoyed every minute, once he realized it was really Anthony, Emma, Lachy, and Simon on stage.

We have learned that the best way to manage the challenges of our son’s disability is through preparation. We began planning for the trip several months in advance by inquiring about schools and the placement process for an international student with a disability. We were very grateful to be offered a place in a support class at Figtree Public School. Quinn appreciated the swimming lessons, Peter Combe music, and lessons on Australian currency.

We helped our son adjust to our travel plans by talking about visiting Australia a few months before we left. Initially, he said, “No Australia!” but once we told him he could feed kangaroos, he began to ask, “See kangaroos?” many mornings long before our departure. We split the long plane flight into nine- and six-hour segments by stopping in Hawaii. We took an evening flight for the long segment, gave our son his usual bedtime medicine, put him in his pajamas, and packed as many small toys and treats as we could carry.

One of the biggest worries we had was about our son’s eating habits. Quinn is extremely picky due to sensory aversions, and required feeding therapy to learn to chew solid food. When we traveled to Germany for a month without his favorite fruit bars, our son ate very little, was often cranky, and lost one or two kilos. Since he is slim as it is, our pediatrician advised that we should always have a supply of the fruit bars when traveling. I posted in the FXAA Facebook group asking if anyone had seen our son’s favorite bars in supermarkets near where we would be staying. Several people very kindly responded and checked their grocery stores. Unfortunately, though many other types of delicious-looking fruit bars were on the shelves, Quinn’s preferred ones did not seem to be available, so we shipped four cases to my colleague’s home before our arrival.

In general, we found the transition to Australia to be relatively easy. It took us all a few weeks to adjust, but once we did, we greatly appreciated the opportunity to live in another country. We were able to enrol our son in affordable additional needs vacation care, hire experienced babysitters, and book a same-day appointment with a doctor when our son had a minor medical issue. We appreciated the availability of public services and spaces like toilets, transit, and beautiful parks and beaches.

Petting Kangaroos at Symbiov2

Though our visit was fairly lengthy, we know we have seen only a small fraction of the country. We hope to return before too long. When we first learned that our son’s disability was more than a temporary developmental delay, we grieved over the experiences we thought we would not be able to enjoy. We have since realized that many things are possible with patience and preparation, even great adventures like living in Oz for a time.

Sarah Taylor, MSW, PhD is an Associate Professor of Social Work at California State University, East Bay. She served as a Visiting Scholar at the University of Wollongong from 1 Sept—15 Dec 2016 to collaborate with Dr. Amy Conley Wright on research related to advocacy in parents of children with additional needs.



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Newsletter – Focus on girls with Fragile X, Family Stories, Fundraisers, Family support, and more

Focus on girls with Fragile X, Family Stories, Fundraisers, Family support, and more….    our latest newsletter is a bumper edition!
To read the newsletter:
1_ Read online on the issuu website.
Clink the link below and then select the “full screen option” to read it full screen.
2_Cownload or print from this pdf version:
FX newsletter March 2017_email

FX newsletter March 2017_print_Page_01

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New clinical trials in Australia

New clinical trial in Australia – a skin gel for the treatment of symptoms of Fragile X syndrome in people aged 8-17 years old. 3 trial sites in Australia

For further information:
Melbourne: Fragile X Alliance clinic (Dr Jonathan Cohen), contact Melanie van Buuren on (03) 9528 1910.
Brisbane: Lady Cilento Children’s Hospital. (Dr Honey Heussler), contact (07) 3068 1111 or email

Sydney:  Westmead Children’s Hospital Child Development Unit (Dr Natalie Silove) 02 9845 2829

Current at 27 April 2017

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