Latest Fragile X Newsletter Oct 2017

The October newsletter profiles the Fragile X Community Days in Brisbane and Hobart – which will feature experts Dr Marcia Braden, educational psychologist and special educator from the US, and Dr Jonathan Cohen from the Fragile X Alliance Clinics in Melbourne.

Other news includes updates on research endeavours, and a recent media campaign on Fragile X carrier screening.

Raising awareness and some fundraising efforts were a highlight in July, and our ongoing campaign to generate increased awareness of Fragile X in the medical community have culminated in video resources on the ThinkGP education portal for GPs.

All this and more in the October newsletter:

Download PDF:  FX newsletter October 2017_email

Or read in full online on ISSUU: http://bit.ly/2guy1HU

 

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Annual General Meeting | Sunday 26th Nov 2pm

This year our Annual General Meeting will be held on Sunday 26th November at 2:00-3:00pm, followed by afternoon tea.

RSVP:  Wednesday 22 November.   wendy@fragilex.org.au or call 1300 394 636

AGM notice_26 November 2017

 

 

 

 

 

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Brisbane: 1st Nov | FX Information Day

FX Community Day_Brisbane 1 Nov 2017_Flyer

We are delighted to host a Fragile X Community Day in Brisbane on Wednesday 1st November.  This is a really unique opportunity to get together, and to hear from the latest from experts Dr Marcia Braden, educational psychologist from the US, and Dr Jonathan Cohen, medical director of Australia’s only FX-specific medical clinic (Fragile X Alliance Clinic.)

BUY TICKETS
Online via TryBooking:  http://bit.ly/2hXtO2R 
OR
by calling us on 1300 394 636

This event is for EVERYONE with an interest in Fragile X – families, carers, education professionals, disability service providers.

  • Update on Fragile X conditions
  • Health perspectives for carriers of Fragile X
  • The latest in research
  • Education  and learning:  strategies to incorporate and support the Fragile X learning style
  • Daily living strategies: understanding behaviours in individuals with FX; supports and interventions that work
  • Interactive session on anxiety in Fragile X syndrome.
  • Discussion panel.

Morning tea & lunch provided.  And Free Parking at the venue.

WHEN
Wednesday 3rd November, 9:30am-4:00pm

WHERE
Souths Leagues Club, 120 Jane Street, West End, Brisbane.
FREE PARKING

TICKET PRICES

MEMBERS OF FRAGILE X ASSOCIATION

  • $85 per member of Fragile X Association of Australia
  • $145 for 2 people (FXAA member plus 1)

    NON-MEMBERS OF FRAGILE X ASSOCIATION
  • $120 for individualsPROFESSIONALS 
  • $185 for health, disability and education  professionals

BUY TICKETS
Online via TryBooking:  http://bit.ly/2hXtO2R 
OR
by calling us on 1300 394 636

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Hobart: 3 November | FX Community Day

 

TryBooking banner_Hobart_black text and photo
We are delighted to host a Fragile X Community Day in Hobart, thanks to the support of Calvary Community Council.
A unique opportunity to get together, and to hear from the latest from experts Dr Marcia Braden, educational psychologist from the US, and Dr Jonathan Cohen, medical director of Australia’s only FX-specific medical clinic (Fragile X Alliance Clinic.)

BUY TICKETS
Online via TryBooking:  http://bit.ly/2xZ5e5W
OR
by calling us on 1300 394 636

This event is for EVERYONE with an interest in Fragile X – families, carers, education professionals, disability service providers.

  • Update on Fragile X conditions
  • Health perspectives for carriers of Fragile X
  • The latest in research
  • Education  and learning:  strategies to incorporate and support the Fragile X learning style
  • Daily living strategies: understanding behaviours in individuals with FX; supports and interventions that work
  • Interactive session on anxiety in Fragile X syndrome.
  • Discussion panel.

Morning tea & lunch provided.

WHEN
Friday 3 November, 9:30am-4:30pm

WHERE
Best Western Hobart, 156 Bathurst Street, H0bart TAS 7000

TICKET PRICES
$25 per member of Fragile X Association of Australia
$75 for professionals and non-members

BUY TICKETS
Online via TryBooking:  http://bit.ly/2xZ5e5W
OR
by calling us on 1300 394 636

OUR THANKS
Many Thanks to Calvary Community Council for providing funding to help support this event.

Calvary_CMYK

 

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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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