Orange FX scarves!

K A W in scarves for fbThese large wrap scarves are perfect for keeping out the winter chills!  Soft acrylic, and warm!

$25.00 each including postage.
(Australian orders only)

ORDER:
ONLINE at this link:          http://playfultreasures.com.au/shop/fragile-x-scarf/
or
BY PHONE:                         call us on 1300 394 636

Limited supply!

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New article: Fragile X-associated disorders: Don’t miss them

Published by RACGP. Authors:  Dr Rachael C Birch, Dr Jonathan Cohen, Prof Julian Trollor, July 2017.

Background
Fragile X-associated disorders are a family of inherited disorders caused by expansions in the Fragile X Mental Retardation 1 (FMR1) gene. Premutation expansions of the FMR1 gene confer risk for fragile X-associated primary ovarian insufficiency and fragile X-associated tremor ataxia syndrome, as well as other medical and psychiatric comorbidities. Premutation expansions of the FMR1 gene are common in the general population. However, fragile X-associated disorders are frequently under-recognised and often misdiagnosed.

Objective/s

The aim of this article is to describe fragile X-associated disorders and identify specific considerations for general practitioners (GPs) during identification and management of these disorders.

Discussion

GPs have a critical role in the identification of fragile X-associated disorders, as well as coordination of complex care needs. Prompt recognition and appropriate management of these disorders and potential medical and psychiatric comorbidities will have important implications not only for the affected patient, but also other family members who may be at risk.”

Read the full article here:    http://bit.ly/2vsrK4y

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June Newsletter | Passion for sport, Awareness month July, Guinness World Record for Fragile X, Health assessments

FX newsletter June 2017_cover pageOur June newsletter covers a range of family stories, the work being done to increase understanding of Fragile X in the medical and allied health communities, and Fragile X Awareness Month in July.

There is also a focus on a recent study which concluded that 37% of deaths of adults with intellectual disability in NSW are preventable.  This story also profiles the Comprehensive Health Assessment Program (CHAP), which is a resource intended to support GPs caring for adults with intellectual disability.

Read onscreen:

https://issuu.com/fragilexaustralia/docs/fx_newsletter_june_2017_issuu?e=25214389/50567559

Or download to read:   FX newsletter June 2017_website

 

FX newsletter June 2017_cover page

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Membership renewals

Members whose membership is current to 30 June 2017 are invited to renew their membership of Fragile X Association for the financial year 2017-2018.

To renew your membership:

1.   USE THE MEMBERSHIP FORM
Print and complete the attached form.
FXAA Membership Form_to 30 June 2018 or 2019

(a) Then post it to:
Fragile X Association, PO Box 109, MANLY NSW 1655.
OR
(b) Scan and email it to:  support@fragilex.org

                             OR
2.   CALL US ON 1300 394 636
To renew your membership over the phone.

Membership fees remain at $25 for one year, and $45 for two years.

 

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Support needs of fathers of children with FXS – Australian study

Hunter Genetics logoLogo revised1USyd logo

 

 

 

INVITATION TO FATHERS OF CHILDREN WITH FRAGILE X SYNDROME *

If you are a father of a child or adult with Fragile X syndrome, we invite you to tell us about your experiences by participating in the project: 
‘The support needs of fathers of children with Fragile X syndrome’

The NSW Genetics of Learning Disability (GOLD) service and University of Sydney Master of Genetic Counselling program invites all fathers who are:
•   Over 18 years of age
•  Have at least one child (young or adult) with a Fragile X syndrome diagnosis
•  If the first diagnosis of FXS was made over 12 months ago
• You do not yourself have a Fragile X genetic result in the premutation or full mutation range
to participate in a telephone interview to explore your experiences surrounding your child/children being diagnosed with FXS and since the diagnosis.

If you decide to participate in the study, please read the participant information statement and sign and return the consent form (see pdf document below) or contact Rosie O’Shea who will send a recruitment pack.

Contact Rosie O’Shea via email at rosie.oshea@sydney.edu.au or 02 99264684, if you have any questions or would like a paper copy of the participant information statement and consent form sent to you.

FXAA FXS father study PIS+PCF 020517

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Fragile X syndrome: from Medical Observer

This article, written by Dr Jonathan Cohen, Professor Sylvia Metcalfe, and Dr Alison Archibald provides an excellent overview of Fragile X syndrome and its associated disorders.

Click here to open/read/download the article:  Fragile X syndrome Parts 1 and 2, from Medical Observer_2012

FX article_Medical Observer picPublished in Medical Observer in 2012, and provided on this website with the kind permission of Medical Observer.

 

 

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Home Among the Gum Trees: An American Family’s Amazing Australian Adventure

On Phillip Island

On one of our first confused and jet-lagged August mornings in Australia, I heard very loud chirps, hoots, and other unfamiliar noises coming from what I thought was our son’s ipad. I was about to tell him to turn down the volume on his nature show when I realized the sounds were outside my window. It still didn’t seem real that we were very far from our home in California, at the start of a four-month stay. Our family had an unforgettable experience living in Australia while I was serving as a Visiting Scholar in the Department of Social Work at the University of Wollongong.

Our 10-year-old son Quinn’s superpowers are his joie de vivre and many passions. He loves animals, garbage trucks, trains, Play-Doh, music, Peppa Pig, and much more. He also has full mutation Fragile X syndrome. As in our life at home, his disability added joys and challenges to the experience. His fondness for animals prompted us to spend a lot of time at Symbio Zoo and the Botanic Garden, and to see the Great Barrier Reef, the Phillip Island Penguin Parade, and Churchill Heritage Farm. His interest in music led us to take a risk and bring him to his first large concert on our last day in Australia, to see the Wiggles. He enjoyed every minute, once he realized it was really Anthony, Emma, Lachy, and Simon on stage.

We have learned that the best way to manage the challenges of our son’s disability is through preparation. We began planning for the trip several months in advance by inquiring about schools and the placement process for an international student with a disability. We were very grateful to be offered a place in a support class at Figtree Public School. Quinn appreciated the swimming lessons, Peter Combe music, and lessons on Australian currency.

We helped our son adjust to our travel plans by talking about visiting Australia a few months before we left. Initially, he said, “No Australia!” but once we told him he could feed kangaroos, he began to ask, “See kangaroos?” many mornings long before our departure. We split the long plane flight into nine- and six-hour segments by stopping in Hawaii. We took an evening flight for the long segment, gave our son his usual bedtime medicine, put him in his pajamas, and packed as many small toys and treats as we could carry.

One of the biggest worries we had was about our son’s eating habits. Quinn is extremely picky due to sensory aversions, and required feeding therapy to learn to chew solid food. When we traveled to Germany for a month without his favorite fruit bars, our son ate very little, was often cranky, and lost one or two kilos. Since he is slim as it is, our pediatrician advised that we should always have a supply of the fruit bars when traveling. I posted in the FXAA Facebook group asking if anyone had seen our son’s favorite bars in supermarkets near where we would be staying. Several people very kindly responded and checked their grocery stores. Unfortunately, though many other types of delicious-looking fruit bars were on the shelves, Quinn’s preferred ones did not seem to be available, so we shipped four cases to my colleague’s home before our arrival.

In general, we found the transition to Australia to be relatively easy. It took us all a few weeks to adjust, but once we did, we greatly appreciated the opportunity to live in another country. We were able to enrol our son in affordable additional needs vacation care, hire experienced babysitters, and book a same-day appointment with a doctor when our son had a minor medical issue. We appreciated the availability of public services and spaces like toilets, transit, and beautiful parks and beaches.

Petting Kangaroos at Symbiov2

Though our visit was fairly lengthy, we know we have seen only a small fraction of the country. We hope to return before too long. When we first learned that our son’s disability was more than a temporary developmental delay, we grieved over the experiences we thought we would not be able to enjoy. We have since realized that many things are possible with patience and preparation, even great adventures like living in Oz for a time.

Sarah Taylor, MSW, PhD is an Associate Professor of Social Work at California State University, East Bay. She served as a Visiting Scholar at the University of Wollongong from 1 Sept—15 Dec 2016 to collaborate with Dr. Amy Conley Wright on research related to advocacy in parents of children with additional needs.

 

 

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Newsletter – Focus on girls with Fragile X, Family Stories, Fundraisers, Family support, and more

Focus on girls with Fragile X, Family Stories, Fundraisers, Family support, and more….    our latest newsletter is a bumper edition!
To read the newsletter:
1_ Read online on the issuu website.
Clink the link below and then select the “full screen option” to read it full screen.
https://issuu.com/fragilexaustralia/docs/fx_newsletter_march_2017_email
OR
2_Cownload or print from this pdf version:
FX newsletter March 2017_email

FX newsletter March 2017_print_Page_01

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New clinical trials in Australia

New clinical trial in Australia – a skin gel for the treatment of symptoms of Fragile X syndrome in people aged 8-17 years old. 3 trial sites in Australia

For further information:
Melbourne: Fragile X Alliance clinic (Dr Jonathan Cohen), contact Melanie van Buuren on (03) 9528 1910.
Brisbane: Lady Cilento Children’s Hospital. (Dr Honey Heussler), contact (07) 3068 1111 or email h.heussler@health.qld.gov.au

Sydney:  Westmead Children’s Hospital Child Development Unit (Dr Natalie Silove) 02 9845 2829

Current at 27 April 2017

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Harry goes surfing!

My son has done the equivalent of me doing a few jumps out of a plane. He certainly coped better than I know I would. No tears, no screaming hysterically. I’m writing this now while the pride I’m feeling in my son is still written on my face. I’m also trying hard to forget the dismay I’m feeling that none of the videos I took on the day turned out. The day was about my son and the memories I have and he has, will stay with us.

When I first heard that my son Harry, 7, could go surfing, through the Autism Awareness Surfers Healing program in Sydney, I couldn’t contain my excitement. I wanted to tell everyone. Harry loves the beach, water and the outdoors. Perfect! So operation surfing began. I felt like I was planning a military operation. It involved visits to the beach, practising wearing wristbands, a detailed social story, first then cards, surfing apps, videos, packing lists – planning, planning and more planning! Months in the making for a few hours at the beach. Well, well worth it!

I was secretly hoping Harry would stand and ride a wave, but not expecting it. Everything was going well until Harry didn’t want to step onto the beach. I just took my time and waited until Harry was ready. He was still anxious so we distracted him as best we could before we had to put his wristband on. Then it was time for the life vest and a little bit more waiting.

OLYMPUS DIGITAL CAMERA

Getting ready….

All of a sudden, the surfers took Harry away and he giggled as they picked him up and carried him into the surf.
I’m sure that is when his fear would have set in. Where am I going? What am I doing? Here he was crashing through big waves on the surfboard and clinging on. I shed a tear as the surfers took him out. Way, way out.

 

 

 

We watched and waited, excited and nervous about what was going to happen.

OLYMPUS DIGITAL CAMERA
Harry rides the waves!

 When Harry came in on the wave, the surfer pulled him up and he stood, I was so amazed, excited and proud. He did it!!!!

They turned around and paddled back out again. They spent a lot of time way out waiting to catch a wave. He rode in, standing, a couple more incredible times.

Afterwards Harry was so relaxed. Instead of immediately stripping off his wet clothes, Harry sat on the beach and put his hand on the knee of a friend of mine he did not know. We sat for a while, enjoyed the beach and then left to walk back to the car. Getting in the car and the drive were uneventful, which was very rare. Not one peep of discomfort. Surfing definitely had a very calming effect on Harry.

It is too easy to place restrictions on ourselves and on our children. I am happy when they are happy and vice versa. If there is something you or your children want to try, get out there and do it! I think in this instance that I can say congratulations to myself, for pulling this off and for the amazing affect it had on Harry. I wish we could go surfing more often; it’s up to me to make it happen.

By Alison, Harry’s mother.   February 2017

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