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 team of 10 running for Fragile X, on Sunday 13th August.

Mike’s City2Surf goals:
1. First costume across the line
2. Raise $3,000 for FXAA

If you have family, friends, colleagues or just plain acquaintances who might be interested in supporting Fragile X Association by way of a tax-deductible donation to Mike’s fundraising page, please do share the link to Mike’s fundraising page:   https://city2surf2017.everydayhero.com/au/mike-tozer

You can keep up with Mike’s extraordinary efforts on his website:   https://miketozer.com/ and on the FXAA facebook page – including a video posted yesterday  https://www.facebook.com/fxAus/

And, there’s more….     Mike is taking on a full marathon in Sydney on Sunday 17th September, part of the Blackmores Running Festival.  42kms from Milson’s Point and finishing up at the Opera House.  He’ll be interviewed on camera as part of the race broadcast, and the Guinness Book of Records people will be there to see how he fares.

Mike’s  goals for the marathon:
1. Great media coverage of Fragile X
2. Guinness World Record for Fastest Marathon in a 3-piece suit

 

 

 

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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 guidelines only recommend carrier screening to women with a family history of Fragile X syndrome.

New research by the Murdoch Childrens Research Institute has found that carrier screening can be offered to women with minimal psychosocial harms, as long as the appropriate information is provided and pre-screening genetic counselling is offered. The findings from this research support the authors’ recommendation that Fragile X screening be offered to women in the general population who are planning to start a family.

The study provides evidence to counter existing concerns about offering Fragile X screening in the general population. It calls for current international guidelines to be updated to include routine offering of Fragile X carrier screening to women in the general population, regardless of family history of Fragile X or perceived risk.

The results of the study were covered widely in the media on Monday 31 July 2017, in newspapers, radio, TV broadcasts and social media. Authors of the study included Professor Sylvia Metcalfe, Group Leader, Genetics Education and Health Research, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, and Dr Jonathan Cohen, Director of Fragile X Alliance Inc and Genetic Clinics Australia.

The media coverage featured interviews with Prof Metcalfe, Dr Cohen, and Kerry Moore, who has a 15-year old son with Fragile X syndrome.

Major coverage included:

Channel Ten Eye Witness News, 31 July 2017:
https://youtu.be/q2ue9vloU4A

Sydney Morning Herald, 31 July 2017: http://www.smh.com.au/victoria/all-women-should-have-chance-to-be-screened-for-fragile-x-genetic-condition-study-20170730-gxlr8o.html

Melbourne University website, 31 July 2017: Study backs wider carrier screening for Fragile X syndrome
https://pursuit.unimelb.edu.au/articles/study-backs-wider-carrier-screening-for-fragile-x

ABC Radio – The World Today, 31 July 2017 reported by Katherine Gregory
http://www.abc.net.au/worldtoday/content/2016/s4710460.htm

The Fragile X Association of Australia strongly supports screening for FXS or FX carrier status in all women prior to or in early pregnancy, in order to provide the widest range of family planning options. The FXAA position on diagnosis and screening in full can be read here:    https://fragilex.org.au/diagnosis-screening-for-fragile-x/

The Association also recommends couples be fully informed of the implications of screening for Fragile X and genetic counselling in the event of a positive diagnosis of Fragile X carrier status or Fragile X syndrome.

The study
An abstract of the study  “Informed decision making and psychosocial outcomes in pregnant and non-pregnant women offered population Fragile X carrier screening” is available here 

The full paper is available on the website Genetics in Medicine:  http://www.nature.com/gim/journal/vaop/ncurrent/full/gim201767a.html

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

Jonathan Cohen_ThinGP_crop2

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 DNA test for Fragile X, and the role of family history in a diagnosis of Fragile X syndrome.

 

Dr Cohen notes that GPs play a very important role in managing the health of families who are affected by Fragile X. New expanded carrier screening offers women the option of being screened for a large number of genetic conditions including Fragile X, before pregnancy or in the early stages of pregnancy.

Watch the video 

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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, Royal North Shore Hospital, former head of the International Menopause Society.

In this 2-minute video Prof Baber discusses the link between Fragile X and Primary Ovarian Insufficiency.

 

 

 

 

 

 

25% of women who are carriers of Fragile X will undergo Primary Ovarian Insufficiency/early menopause. If anyone has undiagnosed early menopause they should be screened for the FMR1 premutation. Prof Rod Baber, University of Sydney, Royal North Shore Hospital, former head of the International Menopause Society.

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Video: Diagnosis: A parent’s perspective

WP_20170119_026_Mike_cropAt 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 deal of parental persistence before testing for Fragile X was done, and a diagnosis made.
In this 3-minute video, Mike’s message to healthcare professionals and GPs when faced with a young child with developmental delay is twofold. Firstly, to strongly consider FX testing early in the process. And secondly to get a real understanding of a family’s history of any conditions related to Fragile X.

Many thanks to www.thinkgp.com.au for producing this video.
Watch the video

 

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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 thinkgp.com.au 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)

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 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.

Objective/s

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.

Discussion

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:    http://bit.ly/2vsrK4y

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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:

https://issuu.com/fragilexaustralia/docs/fx_newsletter_june_2017_issuu?e=25214389/50567559

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:

1.   USE THE MEMBERSHIP FORM
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.
OR
(b) Scan and email it to:  support@fragilex.org

                             OR
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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