Research project: common health issues for female carriers of Fragile X

Invitation from Fragile X Association to take part in a research project.

A research project into some common health issues associated with being a female carrier of Fragile X is underway now at Monash University in Melbourne, and the project team is seeking participants to undertake a 30-minute online survey.
The project is being run by Tatiana Palacios and Dr Claudine Kraan, under the supervision of Professor Kim Cornish, a former FXAA Board member. The results of the study are intended to help women and their families, as well as to inform clinical professionals on providing more personalised treatment options for women who carry the Fragile X gene.
Tatiana, Claudine and Kim have developed an online survey, which is open until August 2015.
We encourage members of the Association to consider participating in the study as it will help to shine more light on issues facing many female carriers of Fragile X.

If you have any questions about the purpose of the study, or the results, please don’t hesitate to contact the research team.

“We are currently seeking women between 18 and 55 years old with a small to medium expansion of the FMR1 gene (between 55 and 200 CGG repeats) to participate in a research study. Women with this gene alteration are sometimes called ‘carriers’ or ‘premutation carriers’.
This online questionnaire research project will look at some common health issues that can be strongly associated with being a carrier of fragile X.
This is an anonymous questionnaire and no identifying information will be collected. It can be completed in about 30 minutes.
To participate in the study, please complete the questionnaire at the following web address.

By participating in the study you can enter a competition to win a $50 Coles Myer gift voucher (a total of 2 available to be won).
If you would like more information about this study, please contact Tatiana Palacios on 0432 919 363 or via email at

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2009 FX family survey Aust/NZ reports

Reports from the 2009 Family Survey on Fragile X in Australia and New Zealand.

The Fragile X Association of Australia and NZ Fragile X Trust (now Fragile X New Zealand) conducted the first national survey of Fragile X families in Australia and New Zealand in 2009.  It was carried out in collaboration with Dr Don Bailey and Dr Melissa Raspa from the United States and replicated their US survey of 2006.

Survey recruitment in Australia and New Zealand posed a major challenge as there were no national databases of families affected by FXS and confidentiality guidelines precluded any individual or group from sharing names and contact information with the project team without parent permission. Therefore, various strategies were used to inform people about the survey and encourage them to enrol and participate.

The questionnaire was in two parts. The first covered ‘family items’ concerning the support, education and social experiences in caring for a FX member of the family. The second part dealt with ‘child items’ covering learning experiences (social and educational) of the FX child. For adults it covered topics about employment, training, living and caring arrangements. There was also an opinions section in the questionnaire.

A total of 113 households representing 289 children responded to the survey. Sixteen households were from New Zealand and 97 from Australia. Of the Australian respondents, 43 were from NSW, 28 from Victoria and 25 from other states/territories. Some of the major findings on education, employment, living arrangements, social and financial impacts on households and respondents were reported in earlier FXAA Newsletters.

Three separate reports are attached below as one document.
(1) Major Findings from a 2009 Parent/Carers’ Survey  provides a summary of  major findings from the survey. This report draws particular attention to what families experienced as a general lack of awareness among professionals about Fragile X, and the challenges respondents faced with issues such as medical diagnosis, education and employment.
(2)  Health Impact and Other Consequences focuses specifically on health impact and consequences of FX-associated Disorders. Findings are reported here on the age of diagnosis and co-occurring conditions such as FXTAS and FKPOI and attitudes to screening, as well as raising implications for public policy.
(3)  Understanding the Nature and Consequences presents  a shorter, summarised version, of the material covered in Health Impact and Other Consequences.

FX Survey Australia and New Zealand 2009_Reports

added to website:  19 June 2015

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Membership – renew in June

If your membership to Fragile X Association expires on 30 June 2015, we invite you to renew your membership.

Member benefits include: 
* discounted or free attendance at Fragile X workshops,
* access to our free counselling service,
* access to clinic assessment places in Melbourne and Sydney,
* telephone inquiry service,
* and our regular newsletter.
We can also:
* connect families to other Fragile X families in their area
* provide details of health and medical practitioners with experience in Fragile X.

To renew your membership:
* Print and complete a Membership form (attached), and post to:  PO Box 109, Manly NSW 1655,  OR
* Call 1300 394 636 (free call) and we’ll take your details over the phone.

FXAA Membership_to 30 June 2016

FXAA Membership_to 30 June 2016_professionals

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Dr Marcia Braden’s presentation from FX workshop

It was a great pleasure for Fragile X Association of Australia and Fragile X Alliance Clinic to host Dr Marcia Braden at Fragile X workshops in Melbourne on 27 March and in Sydney on 30 March 2015.

Dr Braden’s sessions focussed on educational perspectives and behaviours.

The video footage of the entire Melbourne workshop will be made available via this website in the coming weeks.  The footage will include Dr Jonathan Cohen, Fragile X Alliance, Ms Bev Kadish, Occupational Therapist, and Dr Marcia Braden.

In the meantime, the slides from Dr Braden’s presentation in Sydney can be downloaded from here, as a pdf file:  Marcia Braden_FX Workshop Sydney 30 March 2015

Please note that, for confidentiality reasons, the slides do not include the photos and video links provided in Dr Braden’s live presentation.

More about Dr Braden:


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Bridge to Beach paddle event – supporting Fragile X!



Iconic Sydney Ocean Paddling Race Takes Fragile X as Charity Partner!

The Manly Wharf Bridge to Beach is one of Australia’s largest open water paddling events and is regarded as one of the most spectacular in the world!

Participants marshal at Blues Point Reserve  for a spectacular sunrise over Sydney Harbour before lining up directly underneath the Sydney Harbour Bridge at the start line of the race.

They then paddle past the Sydney Opera House and hug the northern shores of Sydney Harbour, across both South and North Heads -   on their way to the finish line at Manly Wharf - just across the road from the Fragile X office.

 Fragile X Association has been based in the Manly area for around 25 years.

We’re proud to be Oceanpaddler’s charity partner for the iconic Bridge to Beach race. We’re proud to be sponsored by the paddling community, and we’d also like to thank the local businesses who have donated prizes for our fundraisers!


B2B FX sponsors_SEA Manly Kayak Centre

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Fx info newsletter – March issue

This gallery contains 1 photo.

The March edition of our Fx info newsletter features: * Fragile X Workshops with Dr Marcia Braden focussing on behaviours and education. In Melbourne (27 March) and Sydney (30 March). * Raising awareness of Fragile X within the medical community … Continue reading

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Dan and Disneyland


Cynthia Roberts and Dan at Disneyland

Dan is 20 years old, and has Fragile X.   Dan’s mother Dr Cynthia Roberts shares his story:

“Dan has Fragile X syndrome.   Day to day for Dan, and our family, this means:

  • Dan has an IQ of 50 – a mental age of 4-5…. he is 20
  • Dan has finished school but will never work. He attends a community participation programme Monday to Friday, where  his favourite activity is dancing
  • Dan can recite lots of lines from movies and TV programs:
    Sticky tape, we have sticky tape, lots of sticky tape at our house” (Bananas in Pyjamas);
    “I’m so in love” (Sleeping Beauty – but recited when giving mum a hug….Thank you Mr Disney!)
  • But Dan communicates in just single words – “juice” “toast” “Ipad” or gesturing
  • Dan can’t write his own name but is a whiz on the iPad
  • At 20 Dan will never drive a car. He can ride a bike with training wheels, but can’t use the brakes so I have to run next to him. He takes great delight in telling me “run” and peddling as fast as he can (City to Surf training, thanks to Dan!)
  • Dan has trouble concentrating, exhibits features of ADHD and suffers from epilepsy. He takes 5 different medications every day…15 tablets a day. Last year he learned to swallow tablets with water!
  • Dan can be overwhelmed with input. If he can’t express this, it can come out physically…hitting and biting. He sometimes has drawn blood.
  • At 20 he still has occasional toileting accidents
  • Dan will live a full lifespan but will need constant care because he cannot live independently
  • His sisters have had to grow up sooner than their years would normally demand, taking on a shared parenting role.
  • But without a doubt, Dan has made us all better people. We are more tolerant and patient.
  • Dan loves Disney princesses – last year I took him to Disneyland. It was the best holiday of MY life
  • When I tell Dan I am the luckiest mum in the world, there is no greater truth

The Fragile X Association helped us so much when Dan was first diagnosed. Other parents rallied around us giving us support.  The Association has helped lobby for families:

  • The Carer’s payment is a mere $117 per month, but crucial for many families. Carers used to apply for this on an annual basis. Now, ADHC recognises you do not “get better” from Fragile X. The carers’ supplement is for life.
  • The National Disability Insurance Scheme, will more effectively securing Dan’s future and answering the unanswerable question. What will happen to Dan when we die?

Help me thank the Fragile X Association, support their ongoing work and recognise the challenges that Dan faces every day.”

Cynthia is a geneticist. In an interview on ABC Radio in July 2014  she talked about what Fragile X syndrome is,  and the importance of diagnosis and testing,  about treatment of the symptoms, and the challenges Dan faces every day.


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Living with Fragile X ‘opens many doors’


Clements boys

Rachael has two children with Fragile X syndrome.  Since the children’s diagnosis, the family has made many life changes such as giving up full-time work, taking the children to multiple therapies and meeting people who face challenges that would ‘rival any top sportsperson’. 

But Rachel says that having children with a disability has opened doors that she never knew were there.   “This has been wonderful for me personally and for my family,” she says. Here’s their story:

“My name is Rachael Clements and I have two children with Fragile X syndrome.
We had never heard of Fragile X Syndrome and when my son Michael was delayed in speech and having some behaviour issues we had some genetic testing. 

We were told that I had passed on a genetic condition called Fragile X syndrome.  At the time, I had twin boys who were 6 months old and two older daughters.

Following Michael’s diagnosis, all my children were tested and one is a carrier (i.e the gene is still ‘fragile’ and affected but to a lesser extent and there are no obvious signs of Fragile X syndrome.  A carrier can pass the faulty gene onto their offspring). Michael and one of my twins, Ben, are mildly affected by Fragile X syndrome.

My family then needed to be tested and we found out that my sister, Dad and aunty are all carriers.  I was the first one in our family to find out about Fragile X syndrome.

We have had many life changes since the boys were diagnosed. 

Michael and Ben needed to go to many therapies, including early intervention, to ensure they can lead the best lives possible.  I also had to leave my job as I couldn’t work full time and my workplace was not supportive of part time work.

The best changes have been that I have been exposed to a bunch of people who face challenges with their children with strength and determination that would rival any top sportsperson.

Having children with a disability has actually opened doors that I never knew were there and this has been wonderful for me personally and for my family. 

Michael started mainstream school this year and absolutely LOVES it.  His school has been welcoming and supportive and he has lots of friends and everyone loves him.  He is doing really well at all his school work and he has blossomed into a confident, independent and happy little boy.

We have a wonderful family and a great life. 

We are working hard to ensure our children’s futures are going to be fantastic.  I want them to be able to work and lead normal lives.”

Rachael and her family’s  story aired on Studio 10 (Network 10), on 22 July 2014, to coincide with Fragile X Awareness day.  Watch the  8-minute clip on YouTube:
Studio 10 interview with Rachael Clements, July 2014


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Staying positive – Micah’s story


Micah, like most 5-year olds, is energetic and loves anything that moves or makes a noise!

Micah, like most 5-year olds, is energetic and loves anything that moves or makes a noise!

Micah was diagnosed with Fragile X syndrome in 2011 aged two.  It was during a routine six month check with the infant welfare nurse that concerns were first raised that Micah was not meeting his developmental milestones.

Poor eye contact triggered Micah’s referral to a series of allied health professionals  for early intervention including physio, OT and speech therapy.  According to mum Rachael, Micah always reached his developmental milestones, but he did so in his own time.

Before Micah’s diagnosis, his parents Rachael and Emiel Bressington had never heard of Fragile X syndrome.  Although they knew something was ‘not quite right’, researching information about Fragile X syndrome was scary and worrying, and waiting for the results of the blood test was particularly difficult.

The Bressingtons received a confirmed diagnosis of Fragile X syndrome with mixed feelings.

On the one hand, it was a relief to have a diagnosis and to realise that there would be help and support available but, on the other, it was very disappointing for Rachael who had waited many years to marry and have a child.

Following the diagnosis, the family was referred to a genetics service for counselling and further testing that revealed a minor deletion on Micah’s FMR1 gene.  After many months, Rachael’s DNA test confirmed that she has mosaic Fragile X and is therefore the genetic carrier.

Since then, Rachael and Emiel have gone on to have a second child, Ruth, who is now two years old.   The genetics counsellor is keen to meet Ruth once she turns three but Rachael is very happy with her development and has ‘no concerns’ that she may also have Fragile X syndrome.

Rachael says she has a wonderful support system of family and friends, a positive attitude and a strong Christian faith which particularly helps her during the difficult times .  She and Emiel also have the support of a fantastic team of educators and allied health professionals.

Micah now attends Holland Street special school in Geraldton where he has gone from strength to strength.  He was the only kindergarten student at the school in 2014 and thrived under the care of a wonderful teacher.

His speech development accelerated during the year and Rachael says that now his speech has taken off, he hasn’t looked back!  This year he will attend pre-primary.

Like most five year olds, Micah is energetic and loves anything that moves or makes a noise!  He particularly loves his trampoline which was purchased from his Federal government BetterStart funding package but also loves water, books, balls and his bike – and he can now almost ride by himself. 

Every family’s experience raising a child with Fragile X syndrome is likely to be different but when asked what advice she would offer, Rachael replied:

Stay positive and never limit your child in any way.  Encourage your child to grow to their full potential and remember you are never alone; there is a whole lot of support out there.”


Micah, his sister Ruth, and parents Rachael & Emiel, live in Geraldton, WA

Micah, his sister Ruth, and parents Rachael & Emiel Bressington, live in Geraldton, WA

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Jimmy is 6 years old, and has Fragile X.

Jimmy is 6 years old, and has Fragile X.

Jimmy has severe anxiety issues, his communications skills are ok, and his comprehension is very good.  Jimmy has had OT, speech therapy and physiotherapy since he was 10 months old.

Jimmy’s mother Sarah says. “We had no idea what Fragile X was when Jimmy was diagnosed at 14 months. We did know something was wrong, hence our constant questioning of doctors, specialists etc since he was 5 weeks old.

We don’t know what the future will hold for Jimmy but we will give him every opportunity to be the best he can be.

We try to focus on Jimmy’s ability rather than his disability. Jimmy loves being at the beach throwing balls and bouncing on the trampoline!

We are very lucky to have Jimmy in our life he has taught us so many things – patience, tolerance & unconditional love.  Mostly he has taught our family to appreciate each other.

Our two daughters do not have Fragile X, and are not carriers of the Fragile X gene, so they are very lucky.

There are so many things you can test for when you are having a baby but at the end of the day you can’t test for everything, and even if you do things can still go wrong.

My advice to parents is be the best parent you can be to the child you are given and who knows what the future will hold for all of you.

Fragile X is the most common form of genetic autism and we like to try and make people aware of FX by telling our story.”

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