Harrison: Achievement Award 2015

Harrison was one of 4 winners of the Fragile X Association Achievement Award, 2015:

Harrison Schmitt_karate_2015

Dedication to Karate Reaps Rewards on Many Levels

Harrison Schmitt, his mother Liz and sister Christa all started karate in July 2013.  But Harrison, who was diagnosed with Fragile X syndrome at age five, was the only one to continue.  Liz and Christa quit after two weeks!

In karate, participants are graded every six months and since starting the sport, Harrison has only missed one grading.  He is currently a blue senior having started on white and then rapidly progressing through the levels of orange, orange senior and blue.

Harrison is now 14 years old and thrives on the routine of karate and the acceptance he receives from the other members of the class.  He particularly loves his instructors and the patience that they show.

His mother Liz is equally delighted with Harrison’s progress and the life skills that karate has helped him develop.

“ Harrison’s motivation for starting karate was to keep up with his sister.  But now that he has been doing it for more than two years, I can see that there are so many benefits.  At karate, there is a culture of kindness, acceptance, patience and persistence.  Aside from giving him the physical skills to deflect and defend himself, it has really helped settle his nervous energy as he feels accepted by his peers and instructors.”

According to Liz, Harrison shows persistence and dedication in all aspects of his life and he understands that he needs to work hard to get what he wants.

“I am extremely proud of Harrison and his ability to smile through his hardships.  I am struck by his ability to strive for something and his willingness to ask for assistance to help him achieve,” she says.

For these reasons, the Fragile X Association of Australia has awarded Harrison with a 2015 Achievement Award. 

He was nominated by his mother Liz because “every day he shows persistence and dedication in all areas of his life and he even does it with a smile on his face.”  When Harrison was in primary school, Liz was told that he would never write.  Harrison now writes, can spell simple words and reads to Liz every afternoon and he is keen to get his driver’s license when he is older.

“Harrison dedicates himself to karate three times a week.  And for a child that just spun and spun every lesson, he has come a long way to be blue senior with the opportunity to grade to yellow belt in a few months,” she said.

Sensei Steven Khoshaba, head instructor at Harrison’s karate school, Khoshaba Dojo, is equally proud of Harrison’s achievements.   “Since Harrison began training with us, he has shown tremendous ability, growth and a courage and endurance that surpasses many of his fellow classmates. Over time, he has improved tremendously.  It has been an honour and a privilege to see Harrison’s transformation and we are most definitely looking forward to many more years together,” Steven said.

Having seen what Harrison has been able to achieve through karate, Liz’s advice to parents of children with Fragile X syndrome is simple.   “Don’t do for your kids what they can learn to do for themselves.  And never give up the hope that one day they will get it.”



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Out now: FX newsletter December 2015

The end-of-year edition of our FX info newsletter has a focus on getting ready for the NDIS, and profiles the excellent new video resources on our youtube channel.

fx info_December 2015_website

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New! Q&A with Dr Randi Hagerman

Dr Randi Hagerman, paediatrician and world leader in Fragile X treatments, in conversation with Katrina Weir from Fragile X Association of Australia, filmed in Sydney in August 2015.
Randi talks about advances in treatments for Fragile X syndrome, health and wellness approaches for carriers of the Fragile X premutation, and about FXTAS.



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Videos from Drs Randi & Paul Hagerman workshops in 2015

The presentations from the Fragile X Update in Melbourne in August 2015 with Dr Randi Hagerman and Dr Paul Hagerman are now available as videos on the Fragile X Association youtube channel 

The presentations available:

Dr Randi Hagerman
* New Advances in FXS and Treatments
* Premutation Carrier Involvement and Treatment

Dr Paul Hagerman
FXTAS:  An Older Face of the Fragile X Gene

Cathy Love Board member of Fragile X Association
Local Supports for FXS 
profiling the experienced health professionals available in Melbourne, the Fragile X Alliance Clinic, and the counselling service provided by Fragile X Association)

Dr Claudine Kraan
 Females who carry an FMR1 premutation: Can research make a difference? (an overview of research in Australia)

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Working with Fragile X – video

Using a Social Inclusion grant from the bank BNP Paribas, Fragile X Association recently produced a video called Working with Fragile X.   It was launched at our Annual General Meeting on October 24th, 2015.

 The video profiles employment challenges faced by severalyoung adults with Fragile X who share their views and remind the world that their desire to work is the same as everybody else’s.   The video features Zoe, a visual arts teacher, Rosie, a makeup artist, and Marty, who has been a factory worker.  It also profiles Ross, who works in a coffee shop, and Hugh who works for a liquor store.

Our aim is to foster employment inclusion and improve the prospect of employment opportunities for people with Fragile X.   The intention is to use the video and other material to better inform employment services of the issues faced by jobseekers with Fragile X, and what can make a successful arrangement.   The video was  a key part of the Association’s recent submission to the federal government Department of Social Services Review of Disability Employment Services.

We invite you to watch the video, and to forward it to your family and friends.

Working with Fragile X: 10-minute version:   https://www.youtube.com/watch?v=xHicx0XNTAQ


Working with Fragile X: 3-minute version: https://www.youtube.com/watch?v=UsOI3DPM6u0

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Honorary Membership awarded 2015

Honorary Membership of Fragile X Association, 2015: Narelle Robertson

Nominated by Janie Roberts, Fragile X Association counsellor.

Narelle Robertson from Victoria has been nominated to receive the award of honorary membership for her commitment to supporting the Fragile X Association through incredible efforts in fundraising, awareness raising and education.

Narelle originally wrote an article for the winter fx info 2013 newsletter where she shared how Fragile X had affected her life. She described how her confidence had recently grown and that she was more able to accept herself and be proud of her abilities. She then supported Janie in a presentation in Brisbane sharing her experiences of living with Fragile X and describing the benefits of counselling.

Several years ago the Fragile X Association needed an ambassador to make a presentation on its behalf at St. Catherine’s school in Melbourne and Narelle agreed to take on this role. She did a fabulous job.

As Narelle’s confidence grew she was able to give educational presentations at her local Lions Club in Wonthaggi, Victoria. She also took an active part in their sausage sizzles and raised funds for the Association on a number of occasions. Indeed, Narelle was so well regarded by the members of the Lions club that she was elected on as the Treasurer for Lion’s Club Wonthaggi.

In late 2014 Narelle single-handedly took it upon herself to write to over 70 Lions Clubs throughout Australia in an effort to raise financial support for the Association. This was in direct response to financial concerns when the Association’s applications for government funding were unsuccessful.

Narelle’s efforts resulted in donations being made to FXAA from several Lions Clubs in Victoria and WA.

The Association has offered Narelle this Honorary Membership in recognition and appreciation of these instances of incredible energy, commitment and proactive support.

Thank you, Narelle.

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Annual Report 2014-2015 | highlights of the past year

FXAA AR_2015
Highlights of the past year:  Our Team,  Fragile X Awareness Month media coverage, Workshops and other services,  Fundraising, Expanding the FX knowledge base of health professionals, Our community, Our supporters, and Looking to the future.

All here in our Annual Report to our members:   FXAA Annual Report 2014-2015_website

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Diagnosis & Screening for Fragile X

The Fragile X Association of Australia represents families and carers of people with Fragile X-associated Disorders (FXDs): Fragile X syndrome (FXS), Fragile X-associated Premature Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor Ataxia Syndrome (FXTAS). Information on this website contain more detailed information on these disorders. 


One of the key issues in the management of FXDs is appropriate and timely diagnosis and screening. This statement presents the FXAA’s position on diagnosis and screening.


                             Diagnosis and Screening for

Fragile X syndrome (FXS) and Fragile X (FX) carrier status

June 2015

The Fragile X Association of Australia (FXAA) strongly recommends:

(1)    diagnostic testing for children and adults with developmental delay and other indicators for the detection of FXS, in order to detect any FX association and to offer appropriate treatment and management strategies;

(2)    diagnostic testing of embryos of women who have FX carrier or FXS status and of any women who request it;

(3)    screening for FXS or FX carrier status in all women prior to or in early pregnancy, in order to provide the widest range of family planning options; and

(4)    introduction in the future of screening of all newborn babies for FXS (newborn bloodspot screening) which is currently not available.

Some expanded information follows but it is strongly recommended that anyone interested in being tested discuss available options with their doctor or a genetic counsellor.

Various options exist and need to be accessed through a GP, paediatrician, obstetrician or any medical practitioner or genetic counsellor

1) Diagnostic testing for males and females with a clinical reason for testing including autism spectrum disorder, intellectual disability, developmental delay of unknown cause, fertility problems, tremor/ataxia of unknown cause or family history of Fragile X-associated Disorders.

This is a relatively routine test that can be requested through most major pathology providers.  There is a Medicare rebate for this test if the patient exhibits any Fragile X-associated Disorder 1 symptoms or if Fragile X syndrome has been diagnosed in the family. However, there may be some out of pocket costs.

 (2) Diagnostic testing of embryos

Pregnant women with FXS or who have FX carrier status can have a test of their foetus at 11 weeks with a result available in 3 weeks.  They can then make a decision about their pregnancy based on the results of the test and in discussion with a genetic counsellor.

Another option is to use IVF and Pre-implantation Genetic Diagnosis (PGD) to ensure that non-FX embryos are used.

(3) Screening for women and men

Screening for FXS or FX carrier status can be undertaken prior to pregnancy or early in pregnancy, and gives people information about their risk of having a child with FXS. People who have a relative with FXS or another Fragile X-associated Disorder have a higher risk of being a carrier of FX than most people.

Carrier screening is also relevant for people who do not have a family history of FX because many people who are carriers of FX do not have anybody in their family who has FXS or another FX-associated Disorder. It is estimated that 1 in 170 women and 1 in 800 men are carriers of FX.

Women who have FX carrier status are at risk of having a child with FXS. Men who have FX carrier status do not have FXS children but pass the carrier status on to all their daughters.


[1] Fragile X-associated Disorders include Fragile X syndrome (developmental or intellectual disability), FXTAS (Fragile X-associated Tremor Ataxia Syndrome) and FXPOI (Fragile X-associated Premature Ovarian Insufficiency).

If a woman learns that she is a FX carrier, Fragile X Association of Australia suggests arranging an appointment to see a genetic counsellor. A genetic counsellor will take a detailed family history, discuss the results, options for further testing if she is pregnant, options such as pre-implantation genetic diagnosis through IVF for future pregnancies, and can help with making decisions and providing support. The genetic counsellor can also discuss genetic testing for other relatives who may also be carriers.

FX carrier screening by DNA testing can be ordered by any medical doctor or through a clinical genetics service. The process involves a simple blood test or, in some cases, a cheek swab. The cost is covered by Medicare for people with a family history of FX-associated Disorders. For those without a family history, there is a charge (usually around $150-$200). Some services also offer carrier screening for other common inherited conditions alongside FX carrier testing. If you are interested in this it is worth discussing these options with a genetic counsellor, obstetrician or your GP.

Details of genetics services around Australia can be found here: http://www.genetics.edu.au/Genetics-Services/genetic-counselling-services

(4) Newborn bloodspot screening for FXS 

Newborn screening for FXS is currently not available in any state or territory of Australia. A national Newborn Bloodspot Screening Working Group was established in 2014 and is expected to report in 2016. It is hoped that the criteria for testing will ensure the inclusion of conditions such as FXS where early intervention and treatment make a difference to the life of the individual, their family and society. (Note that newborn bloodspot screening for FX carrier status is not recommended by current medical ethical guidelines.)

The demonstrable benefits of early treatment and behavioural intervention, in addition to the identification of risk in subsequent and relatives’ pregnancies, present a strong argument in favour of FXS newborn population screening. As both the degree of intellectual disability and behavioural problems are highly variable (especially in females with FXS), the average age at clinical diagnosis is significantly delayed in Australia (at around 5 years). Newborn bloodspot screening would remove this delay.


If you have any queries about diagnosis and screening for Fragile X syndrome and Fragile X carrier status please contact the Fragile X Association of Australia on 1300 394 636 (free call) or by email to:  support@fragilex.org.au

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Annual General Meeting | 24 October 2015

Notice of Annual General Meeting 2015

The 2015 Annual General Meeting of the Fragile X Association of Australia Inc will be held as follows:

 Date:                     Saturday 24 October, 2015
 Time:                     2:00 – 3:30 pm

Location:              Fragile X Association Office Suite 6, Level 3, 39 East Esplanade, Manly, New South Wales, 2095

1. Apologies

2. Minutes of Annual General Meeting held 6 September 2014

3. Matters arising from the Minutes

4.  Treasurer’s Report

5. Appointment of Auditor

6.  President’s Report

7. Report from Fragile X Association Office on Projects 2014-2015

8. Launch: Working with Fragile X video

In 2014 Fragile X Association was awarded a grant to explore challenges for people with Fragile X in securing employment opportunities.   This was part of a Social Inclusion grant programme run by BNP Paribas. Using the grant the Association has produced a short video in which several of our members affected by Fragile X share their employment experiences.

As a key part of our submission to the Federal Government’s Department of Social Services Review of Disability Employment Services, the video is a strong voice for systemic change. 

9.            Election of Board Members

Nominations have been received from the following members for positions on the Board:

Cathy Love (re-election)
Nyleta McRae

10.          Appointment of Honorary Members
Narelle Robertson

11. Other Business

Refreshments:       Coffee, tea and light refreshments will be provided following the AGM
RSVP:                     Monday 19 October        support@fragilex.org.au   or 1300 394 636  

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Nominate an Achievement Award 2015

Fragile X Association Achievement Awards celebrate perseverance and successes. 

They are intended to provide inspiration and encouragement to the people nominated, and to other families.

Past winners have been recognised for their personal achievement in one of a wide range of areas, such as: art, achievement at school, sport, in achieving independence, in supporting others, in community participation.

To nominate someone for an Achievement Award:

Send the nominee’s name and  a short description of their achievement
By email to  support@fragilex.org.au
By post to Fragile X Association of Australia, PO Box 109, Manly NSW 1655

Nominations open to:          Members of Fragile X Association and their families
Nominations close:              Friday 16th October

Winners announced at the Fragile X Association Annual General Meeting on Saturday 24th October 2015


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