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 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.

On Phillip Island

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. Two trial sites confirmed: Melbourne and Brisbane. 

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@qld.gov.au

Current at 28 March 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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Accounts/Administration support role – part-time

  1. About this role.
    We’re looking for an experienced Bookkeeper/Administrative Assistant to join our small team and manage the organisation’s accounts and financial processes and to provide administrative and project support for our operations.The position reports to the Executive Officer, with some input from the Treasurer.  It is a permanent position, at 16 hours a week, based in our office in Manly (Sydney), and to commence asap.
  2. Key Duties / Responsibilities
    Accounts
  • Process all donations and payments
  • Manage BAS, GST, superannuation and other regular payments & processes
  • Manage invoices and fees related to FXAA services, operations and events
  • Process salaries
  • Accounts reconciliation and banking
  • Prepare regular financial reporting for Board and Committee meetings
  • Prepare annual budget and updates, with Executive Officer and Treasurer
  • Prepare compliance reporting for ACNC and state-based fundraising authorities
  • Prepare accounts for preparation of the audited financial statements and liaise with auditor
  • Liaise with accounting software service provider

Administrative and project support

  • Manage membership processes and contacts database
  • Administrative support, as required, for the operations of the organisation or events
  • Update FX website and some social media
  • Respond to queries concerning Fragile X syndrome and FX-associated disorders from individuals, families, and organisations

3.         Knowledge, Experience (including Qualifications) and Skills

  • Relevant bookkeeping/accounting qualifications
  • Excellent verbal, communication, presentation and interpersonal skills
  • Experience using cloud-based accounting systems (ideally, Xero)
  • Proficiency in use of Microsoft Office software, Excel in particular
  • The ability to work independently to complete bookkeeping requirements
  • Highly organised with excellent attention to detail
  • Team player, happy to work in a very small team
  • Experience in the not-for-profit sector ideal
  1. Background

To apply for this  Bookkeeper/Administrative Assistant role, please email a cover letter addressing the selection criteria and your CV to FXAA Executive Officer Wendy Bruce at wendy@fragilex.org.au

If you have any queries about the role please email, or call 02 9977 0074.   
Applications close COB:  21 April 2018.

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Surfboard fundraiser raffle winner!

The winner of the surfboard donated to Fragile X Association by Bede Durbidge, his wife Tarryn and Bede’s sponsors is Chanelle Avison from Queensland!

Congratulations Chanelle!

Here’s the board shortly after the winning ticket was drawn by Mrs Jean Hay, Northern Beaches Council representative, following Oceanpaddler’s Bridge to Beach 2017 paddle race which supports Fragile X Association.

The board is on its way to Queensland today!

BtoB_Jean and surfboard_crop

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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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