Fragile X Carrier / FXTAS clinic

A Fragile X Carrier Family / FXTAS Clinic was established  in Sydney earlier this year.

This is a dedicated monthly service for carriers of Fragile X, initially for those who have some concerns about or may be at risk of developing FXTAS – Fragile X-associated Tremor Ataxia syndrome.

The clinic is run by neurologists Associate Professor Stephen Tisch and Dr Sam Bolitho at St Vincent’s public hospital in Darlinghurst, in Sydney. Dr Randi Hagerman, from the MIND Institute in the US, is forming an international alliance of medical specialists who have a focus on FXTAS;  Dr Tisch and Dr Bolitho are already part of that network.


The only clinic of its kind in Australia, it is open to carriers of Fragile X from anywhere in Australia who can attend the clinic in person, offering 1-2 hour consultation with a neurologist. It also offers consultation with a qualified counsellor with deep knowledge of Fragile X, Janie Roberts (formerly a counsellor with Fragile X Association of Australia.)

There is no cost associated with attending the clinic, and the only administrative requirement is a GP referral to Dr Tisch.

The clinic takes place on the last Monday of each month, in the afternoon.  The next two available dates are Monday 31 October and Monday 28 November 2016.

At present, Fragile X Association is acting as a secretariat for the clinic by liaising with the Fragile X community and coordinating scheduling arrangements directly with the clinic.

Contact us you would like further information, or for us to make an appointment for you or one of your family members to attend the clinic. 1300 394 636 or email

Here’s what Nyleta McRae, a member of Fragile X Association, had to say following a visit to the clinic in September 2016:

“We were thrilled when we first heard the Sydney FXTAS Clinic had been created. Mum has quickly gone from an independent woman in her early 60’s, to struggling to walk or make any decisions for herself over the past 4 years.

It did require quite a bit of planning to be able to attend. We are in Brisbane, so I needed support from my partner and his parents to organise the logistics to ensure the kids were looked after and could still get to school.  There was cost involved, as we flew from Brisbane to Sydney and had to get a car (mum’s condition means that she couldn’t cope with public transport).  And finally it was a very long day.  We left home at about 7:30am and didn’t get home again until after 9:30pm.

Mum and I both agree it was well worth all of the effort. The Doctors were fabulous and did a very thorough examination that took over 2 hours.  It was also wonderful to have the counsellor Janie Roberts there – a familiar face and her support was very welcome.

We now have a more detailed diagnosis, some new medication to trial, and a better idea of what is happening with mum. We will be trying to get down there every 12 months to have her assessed and will be ringing to talk to the Doctors as we progress with new medication.  It is a relief to have such an amazing service.”

Rosemarie McRae with Nyleta


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Notice of Annual General Meeting: Sunday 9 October 2016

                     Notice of Annual General Meeting 2016

The 2016 Annual General Meeting of Fragile X Association of Australia Inc:

 Date:              Sunday 9 October, 2016
 Time:             2:00 – 3:00 pm
Location:      Fragile X Association Office
Suite 6, Level 3, 39 East Esplanade,
Manly, New South Wales, 2095

1.        Welcome
2.       Apologies
3.       Confirmation of Minutes of Annual General Meeting held 24 October 2015
4.       Matters arising from the Minutes
5.       President’s Report and presentation of Annual Report
6.       Treasurer’s Report
7.       Appointment of Auditor
8.       Appointment of Life Member:   Dr Jonathan Cohen
9.       Announcement of 2016 Achievement Awards
10.     Election of Board members
                       Katherine Brown
Nadene Lee
Lisa Ryan
Michael Tozer
11.     Other Business
12.     Fragile X Carrier Issues / FXTAS Clinic
Overview of this new clinic which is open to carriers of Fragile X and their families from around Australia.  Neurologists Associate Professor Stephen Tisch and Dr Sam Bolitho run the clinic on a once a month basis at St Vincent’s Hospital in Sydney.
Dr Bolitho will provide an overview of the clinic, and the assessment and support it is offering to families.

AGM - Followed by a Farewell Afternoon Tea for Robyn Iredale and Bruce Donald who are retiring from the Board. 

RSVP:          Monday 3 October 2016
email   or   (freecall) 1300 394 636  


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Achievement Award 2016 – nominations


Each year the Fragile X Association Achievement Awards celebrate perseverance and personal successes.

The Awards are intended to inspire and encourage the people who are nominated,  and their family and friends!

Past winners have been recognised for their personal achievement across a wide range of areas.
For example, achievement at work or school, efforts in sport, or in art. In achieving independence, or in building up their skills.  In supporting other people in the family, or contributing to the community.

Eligibility:                 The person nominated is part of the Australian Fragile X community.
Closing date:           Nominations close Friday 30 September 2016

How can you nominate someone for an award?
1_Complete this nomination form and email it to:
or post it to: PO Box 109, MANLY NSW 1655


2_Email the following information to

*The name of the person you nominate
*Your name and contact details
*The person’s achievements (maximum of 2 paragraphs)

Award winners announced at the Annual General Meeting of the Fragile X Association on Sunday 9 October, 2016!


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Fragile X Board nomination form

Fragile X Association of Australia is calling for nominations for new Board members to be voted on to the Board at our Annual General Meeting on Sunday 9 October, 2016.

It is important that we have a strong Association to provide a national voice, ensure appropriate services and advocate on behalf of the Fragile X community.

We’re seeking Board members whose motivation, skills and contacts will extend our capacity to deliver supports to our community in line with our strategic plan.

There will be several changes to the Board this year. Robyn Iredale’s term as President is due to expire at the AGM and she will step down. Robyn says “I have found being on the Board to be very gratifying but after 13 years I feel that it is time to open up space for new Board members.”

Bruce Donald, our Treasurer, is also finishing his current term. This is Bruce’s second time on the Board and he has played an important role as Treasurer and advisor on many matters.

Treasurer role and General Board Members

We’re seeking a Board member who will take on the role of Treasurer and several other Board members who have a diverse range of skills in areas such as business/finance, fundraising, marketing, social media.  Above all, we are seeking Board members who have a strong commitment to serving and supporting the Fragile X community.

Judith Lenart (Sydney), Cathy Love (Melbourne), Graham Hook and Nyleta McRae (Brisbane) will continue to serve on the Board.  We would love to have Board members located in other states/territories.

For information about what a Board role involves, click here

To nominate for the Board, please complete the attached form, and return to
Nominations must be received by 5pm Friday 10 September

FXAA Board nomination form 2016

Annual General Meeting, Sunday 9 October, 2:00-3:00 pm

The AGM will be held on Sunday 9 October in our office in Manly:  Suite 6, Level 3, 39 East Esplanade, Manly.  We hope you can join us for afternoon tea afterwards.   (RSVP: or 1300 394 636)

If you’re outside Sydney and would like to join the meeting, please skype in or join by teleconference call.

If you would like more information on joining the Board or about the AGM, please get in touch with Wendy: 1300 394 636



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Interested in helping to lead Fragile X Association?

fx posters pic_from June newsletter
We’re a small member-based not for profit organisation, working towards the best possible lives for families affected by Fragile X.    We’re currently looking for more people to join our Board as directors. 

Fragile X Association of Australia Inc (FXAA) is a small member-based not for profit organisation, working towards the best possible lives for families affected by Fragile X.

We’re governed by a motivated group of volunteers who use their skills to ensure that FXAA strengthens the Fragile X community, provides a national voice for our community, engages with the science, and secures the future for our organisation.

Who are our Directors?

Our Directors come from a range of backgrounds, and have diverse skills. Some Directors have a personal link to Fragile X (such as having children or relatives with Fragile X); others have a strong interest in supporting families affected by Fragile X.

What are we looking for in a Director?

We need people who are passionate about supporting and serving the Fragile X community, and who share our vision!   We’re seeking directors from all states.

Skills and experience that would be an ideal supplement to our current team include:

  • Business or finance experience – treasury role, risk management, governance
  • Fundraising expertise
  • Marketing skills
  • Social media skills
  • Knowledge of intellectual disability or genetic disorders
  • Strong interest in Fragile X-associated disorders
  • NDIS experience

Our Board

Our Board has a maximum of 8 Directors at any one time.  Directors are unpaid volunteers and are elected to the Board for 2-year terms. They attend the Board meetings held 6 times per year (in person or by conference calls) and the Annual General Meeting, as well as some of our events.

The Board has several committees with a specific focus, including FX science and research, the FXAA Endowment Fund, and organisational sustainability. These committees involve Board members and general members of the Association and meet regularly, in person or via conference calls.  An Executive committee of 3 Board members meets monthly to oversee detailed operations and receive reports from our small team of paid staff.

FXAA is a registered charity, incorporated in NSW, and governed by our Constitution. Our Board has independent control over, and legal responsibility for, our management and administration. Directors have some key duties and responsibilities under the auspices of the Australian Charities and Not-for-profits Commission, the NSW Department of Fair Trading, and state-based fundraising licensing authorities.

If you’d like to find out more about becoming a Director of Fragile X Association, we’d love to hear from you.

Please contact Wendy Bruce, Executive Officer:  1300 394 636 or

pdf version of this advertisement:  FXAA_Directors for Board_August 2016.docx

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Fastest Half Marathon in a Suit

(c) Drew Gigg, Yet Another Idea - Tozer on the run_crop

On July 31 2016, Sydney long distance runner Mike Tozer broke the world record for running a half marathon in a business suit. He was one of 600 athletes taking part in the Westlink M7 Blacktown Running Festival, but the only one who was dressed in a 3 piece suit.

The run was his second attempt at the record, after agonisingly missing out by seconds at the Sydney Half Marathon. This time he ran a more even paced race and finished in 1hr, 18 minutes and 10 seconds, taking three seconds off the previous record.


He made the attempt to raise awareness of fragile X syndrome, a genetic condition which affects his son. Mike says that “For me the suit is a metaphor for the condition. Running with the suit is like having someone pushing back and down on your shoulders. It’s tough. It holds you back. But it’s nothing compared to the daily challenges faced by those with fragile X.”

Mike has also been fundraising for Fragile X Association.  In the leadup to the Sydney Half Marathon in May he succeeded in raising over $4,000 for the work of the Association in supporting families across Australia affected by Fragile X.

(c) Blacktown City Council_crop

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Raffle winner!

The winner of the Fragile X Fundraising Raffle 2016 was L Bradley from Brisbane.
The winning ticket was drawn in the Fragile X Association office in Manly on 9 August – drawn by Ian from DHL in the Manly area.

Many thanks to DHL for their support in transporting the prize from Sydney to Brisbane at no charge.






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Women’s Health and the Fragile X Premutation

Some carriers of Fragile X may experience health issues, including  early menopause (FXPOI)

This booklet is designed to encourage women who are Fragile X premutation carriers to take control of their own health and to pass on this information to their families and if needed, health care professionals.

Based on current research, it covers topics such as the pattern of Fragile X inheritance in families, the importance of knowing your Fragile X status and CGG repeat count. It also covers FXPOI, FXTAS and some information on family planning.

FXAA would like to thank A/Prof Graves Allen and Emory University in Atlanta, Georgia, for making this resource available to us.

To read the booklet online:

To download or print:    FINAL PM materials 12.13.15 short

Printed copies of the booklet are also available from the Fragile X Association:  email or call 1300 394 636

Attribution: Produced by Emory University Department of Health Genetics, through funding from the National Fragile X Foundation (US) and the Fragile X Associate of Georgia.

Many thanks to Emory University for permission to to make this booklet available via Fragile X Association of Australia.






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Study to screen 100,000 Victorian babies for Fragile X syndrome | news article

On Saturday 9 July The Age newspaper in Melbourne featured a story on Fragile X syndrome.

Dr David Godler, from Murdoch Childrens Research Institute is running a very large study to assess the feasibility of including Fragile X syndrome in the newborn heel prick test for babies. The article also featured the Jones family, who have a son, Jimmy, who has Fragile X syndrome.

Extract from the article:

“A groundbreaking test for fragile X in newborns has been developed by a team at Murdoch Children’s Research Institute, and after positive early trials, it is now being used in a pilot study to screen 100,000 Victorian babies.


Researchers are using robots to trial the test on blood spots from the heel prick test newborns have at birth to be screened for other conditions, including phenylketonuria, hypothyroidism and cystic fibrosis.


Geneticist David Godler hopes the $800,000 study will pave the way for the test to be permanently incorporated into newborn screening, which would mean parents of fragile X babies know within days, not years.”

Link to full article on The Age website:



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The multigenerational impact of Fragile X | video

On Friday 8 July, for FX Awareness month, 7 News Queensland aired a news story focussed on the impact of Fragile X on the McRae family of Brisbane.

Rosemarie has developed FXTAS; her daughters Nyleta and Shelley are carriers of Fragile X, and they have three children with Fragile X between them.

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