Early menopause/primary ovarian insufficiency – when to consider Fragile X

When to consider Fragile X – Early menopause or primary ovarian insufficiency should trigger genetic testing

Article published in Medical Observer December 2016/January 2017 edition.   Written by Prof Martin Delatycki, Medical Director of Victorian Clinical Genetics Services, with Jean Hailes for Women’s Health, on behalf of Fragile X Association of Australia.

Extract:
Young women with the FMR1 pre-mutation [ie, young women who are carriers of Fragile X] are at risk of premature ovarian failure.  It is estimated that FXPOI occurs in up to 25% of female carriers of a FMR1 pre-mutation. It can lead to premature menopause, infertility or subfertility, irregular and missed periods, vaginal dryness and insomnia.”

The article is reproduced with the kind permission of Medical Observer.

Attached as pdf here or readable online: http://bit.ly/2gDHwmM

medical-observer_talking-women_fxpoi_nov-2016

 

 

 

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Achievement Award – Rebecca

rebecca-jansen-at-coolangatta-tweed-heads-bowling-alley_crop

Rebecca Jansen is a winner of a Fragile X Association Achievement Award 2016!

Inclusion and Participation Strengthen Rebecca’s Love of Bowling

Like many 20 year olds, Rebecca Jansen loves sport. She loves the social interaction and feeling of inclusion that so many people who play regular sport enjoy.

Rebecca’s sport is ten pin bowling. She only started bowling half way through this year and in September, was a member of the Queensland Disability Ten Pin Bowling Championships held in the Coolangatta / Tweed Heads area of south-east Queensland.  Rebecca’s parents say that she has very good hand-eye coordination, and given her meteoric rise in the sport, bowling is obviously the perfect sport for her.

Rebecca has Fragile X syndrome and was diagnosed when she was five years old. Last year she started work at the Endeavour Country Kitchen in South Burnett  where many of the employees are involved in bowling. Through her co-workers, she became interested and involved in the sport.

At the Queensland Championships, Rebecca competed in multiple events including Women’s Singles/E grade, Teams/D grade, All Events Women/E Grade and Double/E Grade, and in her category, placed second overall to the winning bowler who has 30 years bowling experience. That is an incredible result and needless to say, Rebecca was very proud of herself and her achievements.

Rebecca’s parents, David and Lesley, are equally as proud of Rebecca and wanted to nominate her for an Achievement Award to recognise both her participation and her results.

“We are delighted to see Rebecca so engaged in the sport and developing friendships with the other players. The results are important but we believe they are secondary to Rebecca feeling included and participating in the sport alongside other people.

They said, “As parents of a young adult with Fragile X syndrome, the best advice we can give to other parents is to facilitate any activity that allows your child to create friendships and bonds with others”.

Rebecca plans to continue bowling alongside her other interests of music, the internet and watching movies. At this point, she doesn’t have any specific goals for bowling but who knows?  Given her love of the sport and her natural aptitude for the game, maybe Rebecca will become the next national Disability Ten Pin Bowling champion. rebecca-jansen_trophies

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Achievement Award – Daniel Cox

Daniel Cox is a winner of a Fragile X Association Achievement Award 2016!

fx-awardGrowth in Independence leads to ‘Club Helper of the Year’ award

It is a well-known fact that no sporting club can exist without a band of administrators, coaches, officials and volunteers working behind the scenes. The Oak Flats Falcons Soccer Club in Wollongong, NSW, a senior soccer club catering for youths to over 35s, is no different.  For the past three soccer seasons, Tina Cox and her son Daniel, a 15 year old boy with Fragile X syndrome, have supported the club by helping to run the canteen.

Up until the 2016 season, Daniel would help his mum stock and clean the canteen. At the beginning of this year’s season, he was able to pass orders to customers but by the end of the season, he was independently serving customers, taking their money and with some guidance, giving them change.

Daniel’s mum Tina says he has a love of life and a keen desire for independence. Over this soccer season, the growth in Daniel’s confidence and independence has been remarkable.  It has made his parents extremely proud and led them to nominate him for a Fragile X Association Achievement Award.  But the improvement has also been noticed by the Club’s committee and this year, Daniel was given an award at the Club presentation night for ‘Club Helper of the Year’.

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“Daniel was extremely proud when he received this award as he was cheered by the whole room. Although he was a little shy about it, the smile on his face lasted for days and he was keen to show his medal to as many people as he could”, said Daniel’s mum Tina.

According to Tina, Oak Flats Falcons Soccer Club is like one big happy family with the committee and players showing a great deal of acceptance to everyone.  In July 2015, the players wore orange arm bands in support of Fragile X Awareness month.

“Everyone at the club shows Daniel great respect. They treat him as a human being, not a young man with additional needs.

“They always greet him warmly and talk to him at all the home games.   This level of inclusion has made an enormous difference to Daniel and has strengthened his confidence to interact with other people”, Tina explained.

 

falcons

Although Daniel enjoys the opportunity to watch the Falcons play when he is working in the canteen at home games, he is also a keen participator in a range of sports.   One evening a week, Daniel is part of a teen swim squad, which caters mainly for children with additional needs, and on another evening, he attends an indoor sports program run through a local organisation called The Disability Trust where he plays basketball, indoor soccer and indoor cricket.  Aside from sport, Daniel attends a support class in a mainstream school and loves art, movies and theatre.

Tina believes that the confidence Daniel has gained by working in the soccer club canteen has filtered through into other areas of his life.

“At indoor sports, the coach is very encouraging and even asks Daniel to lead the warm-ups. Nowadays, Daniel gets actively involved in all the games and chases after the ball, sometimes even trying to wrench it from opposing players.

“Daniel is also more confident walking home from school by himself and has even gone on some camps where he has been actively involved”, Tina said.

Daniel’s involvement in a wide variety of community activities, and the encouragement he receives to try new things that are outside his comfort zone, is evidence of Tina’s and Jimmy’s (Daniel’s dad) attitude to raising a child with Fragile X syndrome.

She says, “Give children strategies to deal with their anxiety and help them to build their confidence interacting with others.

“It is really important to encourage your child to be a part of the community, and to never give up. Make sure your child has the same opportunities as everyone else”.

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Christmas cards!

We’re getting ready for Christmas!
And our two favourite Christmas card designs are back!

fx-xmas-cards

 

 

 

 

These designs were drawn by Luciana, aged 8, and Miriam, aged 7.

TO ORDER:  please contact us.

Email:  support@fragilex.org.au   Phone:  free call 1300 394 636

Price:  Pack of 10 cards:  $15.00 including postage

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Annual Report 2015-2016

fxaa_annual-report-2015-2016_website_page_01
Our Annual Report presents a great overview of the recent financial year.

It profiles our events, our fundraising, and continued profiling of Fragile X-associated disorders in the medical community and in the general community!

You can read our Annual Report and financial statements in full here: fxaa_annual-report-2015-2016_website

 

 

 

 

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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.

randi-and-sam-b-re-fxtas-consortium

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 support@fragilex.org.au

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-and-nyleta
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  support@fragilex.org.au   or   (freecall) 1300 394 636  

 

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Achievement Award 2016 – nominations

achievement-award-word-cloud

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:  wendy@fragilex.org.au
or post it to: PO Box 109, MANLY NSW 1655

achievement-award-nomination-form

OR
2_Email the following information to wendy@fragilex.org.au

*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 wendy@fragilex.org.au
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: support@fragilex.org.au 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:  wendy@fragilex.org.au 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 wendy@fragilex.org.au

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

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