New study on inadequacy of healthcare for people with intellectual disabilty

Fragile X Association of Australia (FXAA) is very disturbed by the results of the recent study by Professor Julian Trollor of the Department of Developmental Disability Neuropsychiatry (3DN)  UNSW on inequity in the health system for people with intellectual disability.

Media coverage included an item on the ABC’s 7:30 Report http://www.abc.net.au/7.30/ and an article on the ABC news website: http://www.abc.net.au/news/2017-02-08/study-finds-intellectually-disabled-two-times-preventable-death/8248772

FXAA has participated in the change.org petition initiated by  NSW Council for Intellectual Disability. The  FXAA response is as follows:

“The Fragile X Association of Australia is very disturbed by the findings in this study. Fragile X syndrome is the leading cause of inherited intellectual disability, and single gene cause of autism. Specialised intellectual disability health services across Australia are essential for children and adults with Fragile X syndrome to ensure that all of their physical and mental health needs are identified and appropriately managed by health professionals trained to understand and respond to their specific requirements.   We believe that both the lack of specialised services and lengthy waiting times fail to provide essential and timely healthcare for individuals living with intellectual disabilities, thereby negatively impacting health outcomes and quality of life. “

FXAA invites members to consider signing the online petition.

https://www.change.org/p/help-maureen-and-nsw-cid-stop-deadly-disability-discrimination?source_location=minibar

 

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Hear Dr Randi Hagerman’s webinar on health aspects for carriers of Fragile X

On Wednesday 1 February Dr Randi Hagerman, leader in the field of Fragile X, gave a webinar on health perspectives for carriers of the Fragile X premutation.

Dr Hagerman spoke about how and why some carriers of Fragile X can have certain health vulnerabilities, and about specific conditions which can develop, such as FX-associated Primary Ovarian Insufficiency (FXPOI) and FX-associated Tremor Ataxia syndrome (FXTAS).

Dr Hagerman also discussed strategies for maintaining optimal health and treatments.

The webinar recording is on the National Fragile X Foundation youtube channel:  https://www.youtube.com/watch?v=Da6GtqmaS3o&feature=youtu.be

 

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Ben’s Passion for Life Inspires

Ben's passion for life inspires Achievement Award

Ben’s passion for life inspires an Achievement Award

Ben Kalenjuk has won an Achievement Award 2016.

Eugene Kalenjuk thinks he’s the luckiest Dad in the world! He and his wife Sharon are parents to three children – Ben, Emmalea and Gabriel.

The oldest, Ben, was diagnosed with Fragile X syndrome at nine years old, and autism at three and a half.

Despite these challenges, his parents describe Ben as the most happy, caring and sensitive boy who has incredible resilience and faces up to every day with positivity and joy.

 

Eugene and Sharon nominated Ben for a Fragile X Association Achievement award because of his tenacity and willingness to push himself way outside his comfort zone so that he can achieve to the very best of his abilities. Ben attends mainstream school, has a supportive group of friends, plays cricket and soccer, and loves his extra curricula activities such as art and music.

Ben’s father Eugene says he couldn’t be more proud of his son.   “I so often forget just how large the gap is between Ben’s world and our ‘normal’ world. He works so hard to achieve in a normal world, and that is an extraordinary outcome”, he says.

One of the strategies that Eugene and Sharon use to support Ben is to teach him that there is always another way to get to your outcome. Recently, Eugene showed Ben a water feature then he blocked a part of it so that the water had to take another course.  But the water still ended up in the same place.  The water feature is an excellent analogy for Ben’s approach to life – pick a plan and if it doesn’t work, try another way.  It doesn’t matter how long or which way you take to get there, you will get there in the end.

While nowadays Ben has a great passion for life, he has had his share of setbacks over the years.

“For a while it seemed as though life for Ben was half a step forward for three steps back. He faced challenges at school, in therapy and bullying from other children, and not surprisingly, he took it all very personally.

“After considerable support and encouragement from us, particularly his mother, Ben now trusts that we are there for him and that we love him.   He understands that ‘getting there’ is a process and that he needs to keep practising to achieve his goals”.

When asked if they had any advice for other parents raising a child with Fragile X syndrome, Eugene and Sharon said that whatever the issue, find another way.

“Try and think outside the box for solutions and work out if the issue is actually a problem for your child, or is it a problem for you. That may be a tough question to ask yourself, but it’s amazing how often this is the case”.

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Stuart’s Story – Transition to Community Living

Stuart with his sister Robyn Iredale, President of Fragile X Association

Stuart with his sister Robyn Iredale, President of Fragile X Association

Transition to Community Living Brings Many Rewards

Stuart Iredale has won an Achievement Award 2016.

Stuart Iredale is now 58 years old. He is affected by Fragile X and has another mutation on his 4Q chromosome – he has what they call a ‘double hit’. For the past eight years, has lived in the community in an Achieve Foundation group home with two other men.  He is actively engaged in the community, enjoying music, singing, dancing and bowling.  He helps with household chores and very much enjoys the banter that goes with shared living.

However, life for Stuart has not always been like this. For 45 years, Stuart lived in an institution where there was little stimulation or organised activity, variable quality of staff and the frequent use of sedatives to keep him calm.   With the support of his siblings, Stuart was moved into a group home and since then, has become much more verbal and significantly happier.

His sister Robyn nominated him for a Achievement Award in recognition of him making the adjustment and for his involvement in a number of community activities, specifically music and bowling.

Since moving to the group home, Stuart’s life has changed from one where he had very little to keep him simulated or occupied to one with a full and active schedule. He contributes to the daily running of the home doing chores such as wiping the dishes, setting the table, hanging out washing and helping with shopping.   He also attends a weekly individual music therapy session, a community workshop program three days a week where he excels at bowling, his favourite activity, and on two evenings a week, he joins others at a club where he enjoys music and dancing.

He also has his own room with a television and DVD player, and really enjoys his own space and the peace and quiet that goes with that.

Although there have been significant challenges associated with Stuart making the transition from institutionalisation to community living, Robyn and her siblings are extremely proud of him.

Blues Brother!

Blues Brother!

“We are certainly proud of his newfound bowling prowess and musical ability – he can recognise a tune from the first few bars and is performing at our Christmas concert this year!

“But we are also very relieved that Stuart will be able to live a much better life in a caring and supportive environment for his remaining years”, Robyn said.

There have also been a number of additional benefits to Stuart moving into the community.

“Prior to moving into the group home, Stuart barely spoke. He is now much more verbal and rings the family frequently.

“And after some initial opposition, all of Stuart’s siblings are now delighted with his new living arrangements. My brothers and sister are also very involved in various aspects of his life and my brothers help manage his finances and NDIS plan.  This has added benefits as they also help keep the Achieve Foundation accountable”, explained Robyn.

Stuart fishing with Tim Turpin

Stuart fishing with Tim Turpin

When asked if she had any advice for other families looking to support their adult siblings with Fragile X, Robyn responded, “Stimulate, stimulate, stimulate and integrate, integrate, integrate. Never take no for an answer as you know your sibling’s capabilities the best”.

 

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December newsletter!

In our December newsletter: Achievement Award winners.  A wrapup of the festival of orange that is Fragile X awareness month!  Meet our new Board.  Member stories.  News of our awareness campaigns in the medical community.  The Fragile X premutation carrier clinic at St Vincent’s Hospital in Sydney. Fundraising.  Christmas cards.  Research studies.  And more…. Read online:

https://issuu.com/fragilexaustralia/docs/fx_info_december_2016_website_8c4c4dc3dd9cec

fx-info_december-2016_website

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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’.

falcons-award-2

“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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