Survey on costs to families of raising and caring for children and adults with Fragile X syndrome

From FX Newsletter, June 2019.  This study is open until 31 July 2019

Research Study:  Costs to Families of Raising and Caring for Children and Adults with Fragile X syndrome

“The national FreeFX study, led by Associate Professor David Godler at the Murdoch Children’s Research Institute in Melbourne, aims to test a number of new highly accurate laboratory methods which can tell us about a person’s level of the FMR1 gene activity. We want to find out how early after birth these tests can be used to predict intellectual disabilities, behavioural problems and autism in children and adults who have expansions in the FMR1 gene.

A part of this study led by Dr Emma Baker also aims to estimate the costs to families and the Australian government associated with raising and caring for  children and adults with Fragile X syndrome at different ages.

These include costs of medical services, medications, education, housing modifications, accommodation and care assistance. In order to do this we collected questionnaire data from families who participated in the FreeFX study.

To better understand these costs, we are now asking families with a child or children with Fragile X syndrome to complete two short questionnaires.

These questionnaires ask about:

(1)      EQUIPMENT that has been purchased for the independence and safety of the individual with Fragile X syndrome:

(2)       HOME MODIFICATIONS that have been made in order to make the family home more accessible and safe for the individual with Fragile X syndrome.

The questionnaires also ask about funding and estimated costs of the equipment and modifications.

It is anticipated that each questionnaire will take 5-10 minutes of your time and all responses are anonymous.

This information will be beneficial for us to understand the costs associated with raising and caring for an individual with FXS, and the costs associated with
supporting families when the diagnosis is made early (eg, in infancy).

Ultimately, we hope this information will provide evidence that may be used to support introduction of newborn screening for Fragile X.

We thank you in advance for your time

Dr Emma Baker:   02 8341 6245 or”



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June newsletter – out now!

Our June newsletter is out today!

Family stories, the latest on drug trials for Fragile X syndrome, Australian research studies seeking participants, Fragile X awareness month in July, fundraising, events, and more!

Read online!

Or download the pdf version here   FX Info June 2019v3_website:

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End of Financial Year: Your donation will help us support the Fragile X community

YOUR DONATION will help give us the capacity to continue providing support to the Fragile X community and effectively raising awareness of Fragile X-associated disorders.

Around 90,000 people in Australia, children and adults, are impacted by Fragile X in some way.

We’re a small national charity serving as the peak body and support organisation for the Fragile X community across Australia.  Our funding is from donations and fundraising.

Support and Information on Fragile X

We offer information, education, advocacy and referrals to people who are impacted by Fragile X-associated disorders and to their families, carers and health and disability service providers.

  • Helpline 5 days per week
  • Counselling support to individuals and families
  • Information and referrals
  • Access to Fragile X clinics

Making Fragile X known

Fragile X-associated disorders are frequently under-recognised and often misdiagnosed. (Fragile X disorders: Don’t Miss Them)

Early and accurate diagnosis of any Fragile X condition is key to securing the appropriate treatments and supports, and so we work to increase awarenesss of Fragile X, especially in the medical and allied health communities.

Donations of $2.00 and over are tax deductible.

Call us on 1300 394 636 for other donation options.

THANK YOU.   Your support will make a difference.

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Clinical trial now enrolling: CBD gel for children 3-17 (CONNECT-FX Study)

Enrolments open until the end of  July 2019:

The CONNECT-FX study is running in Australia, New Zealand and the US, to study an investigational drug in gel form called Zygel, manufactured by Zynerba Pharmaceuticals.

The aim of the study is to determine whether Zygel can help manage some common behavioural symptoms associated with Fragile X syndrome, such as anxiety.

Zygel is a pharmaceutically produced CBD, a non-psychoactive cannabinoid, which is applied as a gel to the skin.  CONNECT-FX is a placebo-controlled trial, and folllows a smaller trial conducted in Melbourne, Sydney and Brisbane in 2017.

The current study hopes to recruit  approximately 200 participants aged between 3 and 17 across Australia, New Zealand and the US.

There is more detailed information on the trial, on the National Fragile X Foundation (US) website:

Trial contacts in Australia:
MELBOURNE:   Dr Jonathan Cohen, Fragile X Alliance Clinic, 03 9528 1910.
SYDNEY:  Dr Natalie Silove, Westmead Children’s Hospital, 02 9845 1413.
BRISBANE:   Dr Honey Heussler  07 3069 7709



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Ten Things Teachers Need to Know About Fragile X

downloadable: Top Ten Things for Teachers to Know about FXS_from NFXF website_March 2019

Top Ten Things for Teachers to know about Fragile X Syndrome

These ten things will help bring out the strengths of each child and minimize or improve some of their struggles they may encounter.

The #1 thing teachers should know about students with Fragile X syndrome  is that they are prone to  hyperarousal and anxiety.

It is how their nervous systems are wired. Most recommendations that follow are geared to maximizing focus and cooperation by minimizing hyperarousal and anxiety:

  1. Don’t force eye contact
    Eye contact will come naturally as the student becomes more comfortable with you.
  2. Expect inconsistency
    Engagement and performance is likely to vary greatly; it can be difficult to discern why. Try to accept this to avoid frustration; your student will pick up on frustrated energy and that will exacerbate anxiety.
  3. Students are “simultaneous” vs “sequential” learners
    Students with FXS are good sight word learners, but have a terrible time with phonetics. They are motivated by the end result, and impatient with the process. Use backward rather than forward chaining; use checklists to show progress toward an end result.
  4. Allow and/or encourage frequent breaks
    Accommodate attention deficits by keeping tasks brief. Keep up a good pace – power breaks are shortbreaks.
  5. Verbal expression is cognitively taxing
    Provide some non-verbal alternatives for students to show what they know, such as following directions and pointing to visual representations.
  6. Think “INDIRECT”
    There are times when students with FXS enjoy attention, but most often they are adverse to the limelight.
    Give compliments in the 3rd person about the student to others within earshot; use incidental learning;
    include the student in a small group while directing instruction to a peer; avoid direct, open-ended questioning: prompt “The President of the United States is…..” vs. “Who is the President of the United States?”
  7. Prepare for transitions
    Give 10 and 5 minute prompts. Allow to be at the head or back of the line. Use social stories about routine
    transitions. Provide a purposeful errand so the focus is on the outcome (e.g. delivering an envelope) rather than moving from one place to another.
  8. Work with an OT knowledgeable about sensory integration and embed S-I strategies into the school day
    Students with FXS are prone to hyperarousal and anxiety which undermines focusing ability- learn what S-I techniques are calming for your student – heavy work like re-arranging desks, cleaning windows, moving stacks of books? Vestibular input, like going for a walk, doing wall push-ups, swinging, using a skateboard? Integrate these activities throughout the day to sustain a calm, regulated nervous system.
  9. Notice environmental triggers
    Students with FXS often have sensory sensitivities to sound, light, textures, taste, and smell that provoke
    hyperarousal. Make adjustments to the environment (dim lighting, allow use of muting headphones) as much as possible.
  10. Know FXS strengths
    Common strengths associated with FXS are a good visual memory, sense of humor, desire to be helpful,
    empathic nature, and gift for mimicry. Use visual cues, make learning fun, provide opportunities to be of assistance, encourage providing emotional support to peers, use modeling as a primary teaching
    technique – embed academics into useful and practical tasks, such as taking attendance (counting) or ordering from a menu (reading)  –  and ENJOY YOUR STUDENT WITH FXS!

Written by Laurie Yankowitz, Ed.D.  Reproduced from the National Fragile X Association website  by Fragile X Association of Australia, with permission. 2019

 For more information on strategies which  support the learning style of
children with Fragile X syndrome: and




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Latest FX newsletter: March 2019

Our March 2019 newsletter includes:
* Preview of our 30th birthday celebrations!
*Tips for “back at school” resources for teachers who have children with Fragile X in their classroom
* Update on our campaign to increase knowledge of Fragile X-associated disorders in the medical community
* Opportunities to participate in research studies
*Fundraising events including the Ballarat Dance Awards in Victoria and the Bridge to Beach ocean paddling race in Sydney
*Fragile X Achievement Award winners
* Family stories
And more!
Read here:
FX Info March 2019_web version

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Bridge to Beach fundraiser! Donations matched by Shaw and Partners

Sunday 24 February 2019- from under the Harbour Bridge across to Manly Cove







The annual Bridge to Beach paddle race supports Fragile X Association of Australia.

This  year Shaw and Partners will help us reach our fundraising target of   $10,000!

Shaw and Partners is an investment and wealth management firm, with offices across Australia. They’re a major sponsor of the Australian Ocean Racing Series, including the Bridge to Beach.

Shaw and Partners will MATCH all Bridge to Beach-related donations for Fragile X, dollar for dollar, to a cap of $5,000!

Donations can be made on our Bridge to Beach Fundraising page, from 25 January through to 25 February 2019.

The funds raised will resource the Specialist Family Support Service we offer Fragile X families across Australia. It’s an important service, used by hundreds of people each year, providing counselling, a HelpLine 5 days a week, advocacy, referrals, and information about Fragile X disorders.

We’re proud to be the charity partner for this iconic race, to be involved with Oceanpaddler, Manly Wharf, Shaw and Partners and the many local businesses in Manly who support us on the day.

A huge shoutout to all the local paddlers who’ll be in the race on Sunday 24th February!

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Annual Report 2017-2018

Each year our Annual Report is a great wrapup of the work we’ve been doing to increase awareness of Fragile X in the medical community, to provide support to individuals and families impacted by Fragile X, information about Fragile X-associated disorders, and to facilitate access to clinics.

Here’s a link to the “read online” version of the Annual report 2017-2018:

Here’s our latest Annual Report in full, including the audited financial statements.

FXAA Annual Report 2017-2018-compressed (1)



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Fragile X Christmas cards 2018

New Christmas cards for 2018!

Order by email or phone:
1300 394 636




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New Board 2018-2019

Following the Annual General Meeting of 11 November 2018, we welcome the new Board for 2018-2019 and in particular welcome two new volunteer directors, Kate McKeand and Wayne Pointon.

Prof W Ted Brown, President
Prof Brown MD is the recently retired Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, New York. Upon retiring, he moved to Sydney and married paediatrician Dr Jacqueline Small, who runs a clinic for children with developmental disability. He has an appointment as Visiting Professor at the University of Sydney. Much of his 35 year research career has focused on Fragile X syndrome and on autism. He was the first to describe a relationship between autism and the Fragile X syndrome. His team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X, and subsequently have provided prenatal diagnosis for more than 1,400 known carriers. His laboratory has developed a sensitive antibody test to
quantify the Fragile X protein levels in blood spots. His clinic was a participant in the Fragile X drug trials sponsored by Seaside, Novartis and Roche. Prof Brown is based in Sydney.  He was re-appointed to the Board at the AGM on 11 November 2018.

Judith Lenart, Treasurer
Judith is an experienced director with a background in business, education and health. She has served on the boards of several companies and charities in Australasia. Judith joined the Board of Fragile X Association in 2014 and has served as both Secretary and Treasurer. She is a registered valuer and has served on the finance committee of CatholicCare Broken Bay, New South Wales. Judith is based in Sydney. Judith was re-appointed to the Board at the AGM on 11 November 2018.

Christine Kelleher, Secretary
Christine has been involved with Fragile X Association for nearly twenty years, including serving on the Board and the executive committee several times.  She is a mother of three adult children, two of whom have full mutation Fragile X. Christine is passionate about seeing the Association succeed and sharing her knowledge of raising affected children within the Fragile X community. She is based in Sydney. Christine was re-appointed to the Board at the AGM on 11 November 2018.

Graham Hook, Director
Graham’s son James is an adult who has Fragile X syndrome.  Graham re-joined the Board in May 2016, having previously served as a director, Vice-President and President.  Graham has also served on the board of Duke of Edinburgh Awards, and Life Be In It (NT). He is a current member of the Australian Institute of Company Directors.  Graham spent the majority of his career in the Air Force and now serves as a business manager within the Department of Defence.   Graham also volunteers with Special Olympics Queensland as a basketball coach for one of the Brisbane teams.  In his spare time Graham enjoys gardening, cultural events, catching up with friends or just being with his wife Amanda.  He is an amateur artist who enjoys doing landscapes and portraits in oils. Graham is based in Brisbane, and was re-appointed to the Board at the AGM on 11 November 2018.

Katherine Brown, Director     
Katherine is English and moved to Australia in 2006 with her husband David. Together they have two children: Samantha is 9 and has not been tested for Fragile X; Andrew is 7 and has Fragile X syndrome. Katherine joined the Board in 2016. She has worked in the finance industry for over 10 years. Before moving to Australia she was supervising a debt recovery team for a stock broker,  representing the company in court during disputed claims. Katherine built on her public speaking experience in 2012/13 before returning to the finance industry in a sales role. She has recently taken up running and likes to run for fitness with friends. Katherine is based in Adelaide and has taken part in several organised running events and has used these events to fundraise for Fragile X Association on several occasions. She was re-appointed to the Board at the AGM on 11 November 2018.

Kate McKeand, Director
Kate is a disability advocate and mother of two children who have Fragile X full mutation. She is based in Melbourne and is a director of a consulting organisation that specialises in supporting and empowering participants in the National Disability Insurance Scheme.  Kate has represented families of children with disabilities on a number of consumer and advocacy bodies, and has presented at a wide range of forums on inclusion of people with disabilities, disability supports and NDIS. Originally an environmental engineer, Kate has experience working in board and management roles in the not-for-profit, government and consulting sectors. Kate loves yoga and the Australian bush, and is attempting to establish a sensory garden at home with the help of her children and husband Stuart. Kate was appointed to the Board at the AGM on 11 November 2018.

Wayne Pointon, Director
Wayne lives in Busselton, Western Australia with his wife Lisa, their daughter Emma (9) and twin boys Ben & Zak (6). Zak has Fragile X syndrome whilst his siblings are unaffected. Wayne has held several senior positions in the public sector in analytics and investigations, and in enforcement and compliance operations. He currently holds an operational leadership position within the mining industry. Wayne enjoys spending time fishing and camping with his family. Wayne was appointed to the Board at the AGM on 11 November 2018.

Mike Tozer, Director
Mike is originally from the UK and is married to Helen who is from Sydney. They have two children, Josiah aged 6 and Hannah aged 8. Josiah has Fragile X syndrome while Hannah is not medically affected. However, she does point out that she is still indirectly affected as a sibling of a brother with Fragile X! Mike has worked in the technology and social impact sectors for 20 years. He is the founder of Xceptional, a technology services firm that employs people with autism and was featured on the ABC’s ‘Employable Me’ series. Mike holds a masters from Harvard and a BA from Oxford. Mike is also a runner and has recently broken the world record for the fastest half marathon in a business suit! He took on the record to raise funds and awareness for Fragile X in Australia and internationally. Mike lives in Sydney.  Mike was re-appointed to the Board in December 2018.

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