Fragile X Australia newsletter - March 2017

March 2017 Fundraisers Family Stories

Focus on Girls with FX Family Support New clinical trial and more...

Luke Ratcliff

FXAA ambassador Manly Wharf Bridge to Beach

Welcome to the New Year and I am surprised at how quickly it has gone already. The new Directors have settled into their roles on the Board and are getting down to the work at hand. Our biggest priority is securing ongoing funding as a major grant which has helped fund our small team of staff will end in July 2018.

I would like to thank all those members and friends who helped us with the Chorus Call online voting competition for charities in December. Thanks to Wendy Bruce’s daily reminders we secured enough votes to come out the winner!

The second good news story is the Manly Wharf Bridge to Beach 2017 paddle event in February. Our wonderful friends at Oceanpaddler again supported the fund raising effort by encouraging the paddlers to make a donation. They helped us raise a significant sum through donations, and the raffle of Bede Durbidge’s surfboard. The good news then only gets better. Shaw and Partners is a preeminent investment and wealth management firm; the Shaw and Partners Foundation matched the paddler donations with a cheque for $5,000. A special thanks to Earl Evans, the Co-CEO. I’d like to note some particular thanks. Firstly to Liz Russell, our accountant, who over the past 4 and a half years has done a terrific job managing our finances and preparing our accounts for the annual audit and reporting.

Liz has left us for larger roles, and we wish her well. And a special thanks to Kate Stokes, from Devonport, Tasmania.

Kate has designed our terrific “new look” newsletter and recent social media graphics. Kate has two nephews with Fragile X, and has done this design work for us pro bono.

We’re working on arranging some events and forums over the course of this year. I’m really pleased to say that Dr Marcia Braden, an educational psychologist from the US who has a special interest in Fragile X and autism, will be back in Australia in late October. Marcia will be in Brisbane and Hobart, to present at Fragile X Family Days. Some of you will have met Marcia during her previous visits to Melbourne & Sydney or through her book Fragile X – Handle With Care. In September we’ll also host a workshop in Sydney on language and communication in children with Fragile X; special thanks to Marcia Williamsz from the Westmead Children’s Hospital for offering to conduct the workshop.

Although fund raising will be our key focus this year, we need to maintain the level of service to the families and the people impacted by Fragile X. Using the funds raised through the Bridge to Beach and the matched donation, we plan to increase the family counselling support for the next 6 months. The demand is there for more, but an increase for 6 months is all we can afford at this time.

The existence of the Fragile X Association is funded by donations, grants and fundraising. The Board is working on a funding strategy to guide us through the approach we take to secure ongoing and significant funding to enable our organisation to continue providing information, support and services to families impacted by Fragile X. I urge you all to start thinking about whether you are in a position to help support the organisation, whether by volunteer work, fundraising, or donations. Every effort contributes to keeping the FXAA operations going and helping our community.

Our key priorities as an organisation remain :  securing ongoing funding for our operations  reinvigorating clinical support for families  maintaining the office as the first point of contact  The ongoing program of awareness of Fragile X I look forward to a challenging year and hope you can help us keep this essential service going.

Regards, Graham Hook

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Spectacular Race Across the Harbour to Manly

Our Thanks

Well, it wasn’t the finest of Sydney days for the Bridge to Beach this year….

It poured with rain, actually, for most of the morning.

But that didn’t deter the paddlers!

They launched from Blues Point at 7am for the paddle across the harbour for what proved to be very lumpy conditions. For a few, crossing the heads— where the ocean meets the harbour— was too much and they were towed in to Manly...

Many thanks to the paddlers who made donations to Fragile X as they registered for the race and braved the grey and wet day!

Fragile X Family Support Role

And many thanks to Northern Beaches Councillor Jean Hay for once again welcoming the paddlers to Manly, and drawing the winning raffle ticket!

The Fragile X Family Support role is a blend of social work and counselling support, and a critical service we provide to the Fragile X community across Australia.

The funds raised via the paddlers, the donation from Shaw and Partners Foundation, together with the funds raised through the surfboard raffle, will be used to extend the hours of our family support service for 6 months, assisting Amanda in her role which is currently just 2 days per week.

Many thanks to Dean, Sherene and Yanda at Oceanpaddler and to Earl Evans and Shaw and Partners Foundation for their partnership with us.

In the leadup to the race our paddling ambassador Luke Ratcliff made some terrific videos to inspire paddlers to take on the race challenge and to support Fragile X. Injury kept Luke out of the race this year, but he’ll be back in 2018!

And last but not least we appreciate the support of the local businesses in Manly who kindly donated “lucky dip” prizes for us to give to some of the paddlers who had made donations:

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On Sunday 26th February the Oceanpaddler team, race sponsors and supporters, together with the Fragile X team, braved a wet morning and early start at the concourse outside Manly Wharf to cheer on around 400 competitors as they finished the gruelling conditions of the annual 11 km Manly Wharf Bridge to Beach ocean paddling race.

It was a fabulous event that concluded with awards and prizes for a number of paddlers as well as the presentation of a $5,000 cheque to Graham Hook, FXAA president, by Earl Evans, Co-CEO of wealth management firm Shaw and Partners. This is the first time Shaw and Partners has been a sponsor of Oceanpaddler and their generous donation, together with the ongoing support we receive from Dean Gardiner at Oceanpaddler, resulted in more than $10,000 being raised for Fragile X Association. This is an amazing outcome and the funds will help us provide more support to families and children and adults affected by Fragile X. Dean Gardiner grew up in Western Australia but has lived and worked in the Manly area for 15 years or so. He has always been involved in ocean paddling, competing professionally, running events and importing surf skis and equipment. Ocean paddling events have traditionally been run

by Surf Life Saving Australia (SLSA) but after some time working within this structure, Dean stepped aside from SLSA, started Oceanpaddler and built a successful business comprising coaching, equipment sales and hire and a series of annual race events, including the Manly Wharf Bridge to Beach.

Dean is one of the pioneers of ocean paddling and to this day holds many local and international race records. He first competed in the 53 km Molokai Challenge in Hawaii in 1999, which many people say is the world’s toughest ocean ski race, and has won the race many times. In 2010, he didn’t win but was runner-up to none other than the Olympic gold medallist!

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Earl Evans is Co-CEO and Head of Wealth Management at Shaw and Partners, one of Australia’s leading investment and wealth management firms. Prior to joining Shaw and Partners in 2015, Earl was CEO of Macquarie Banking and Financial Services in North America where he lived for 5 years. During this time, he was also the Chairman of the Macquarie Foundation, North America, where he learned much about philanthropy and the benefits of both corporate and personal giving. Upon joining Shaw and Partners, one of his early initiatives was to establish the Shaw and Partners Foundation.

Earl has only recently taken up ocean paddling. Eighteen months ago, as part of reviewing his own values and sense of what’s important in life, Earl decided to set himself a challenge – to complete the 52km 2016 Molokai Challenge while at the same time, raising money for charity. He went to Hawaii, competed in the race, raised $85,000 for Juvenile Diabetes Research Foundation and at the same time, fell in love with the sport, particularly for its purity and connection to nature and the great outdoors.

When Dean met Earl It was at the starting line of the 2016 Molokai Challenge that Dean and Earl had a fortuitous meeting. Earl had heard of Dean and knew of his unrivalled reputation in the sport. He also felt that there was great synergy between Oceanpaddler and the essence of being a paddler, and the values of Shaw and Partners. Earl decided that when he returned home from Hawaii, he would talk to Dean about getting the Shaw and Partner’s Foundation involved with Oceanpaddler.

As a result, Shaw and Partners Foundation signed on to become a sponsor of Oceanpaddler’s national race series.

According to Earl, “Our support of Oceanpaddler’s Australian Ocean Racing series has resonated really well with our clients and our staff, and is congruent with our other sponsorships, which all promote an outdoor active lifestyle.

“In the first 12 months, our Foundation was aligned with some of Australia’s more established charities but we have recently shifted our focus to some of the microorganisations; the ones that are under-funded and don’t have much of a media profile.

“The Foundation is a great opportunity for Shaw and Partners and our staff to give back to the community.

By giving to organisations like Fragile X Association of Australia, we know that our contribution can really make a difference to their operations,” Earl said.

Wendy Bruce, Executive Officer FXAA agrees.

“We couldn’t be more delighted with the generosity shown

by Shaw and Partners Foundation and Oceanpaddler.

Earl is absolutely right – our families still need counselling and support even though government and other funding sources may not exist. We guarantee to put their donation to extremely good use.”

In early February 2017, Shaw and Partners was deighted to announce that they agreed to rollover their existing sponsorship of AORS for the 2017/18 season.

“Earl is passionate about paddling and he is passionate about his business. Through the Foundation, he is also very generous and Shaw and Partners is a fantastic fit for the sport,” Dean said.

“I definitely see Shaw and Partners and Oceanpaddler having an ongoing relationship. It also helps when the people at Shaw and Partners are keen to paddle,” says Dean.

Fragile X Association Benefits from Sponsorship

Dean, Earl and Councillor Jean Hay

“There are many charities that want to get involved with Oceanpaddler but we’ve been aware of Fragile X Association for around four years now. They are a great charity and one that’s close to the hearts of most people taking part in the event. I’m happy for them to be involved,” Dean explained.

Alongside pro bono consulting services and distributional grants, the philosophy of the Shaw and Partners Foundation is one of dollar for dollar matching, including the matching of monthly donations received from many of the 250 Shaw and Partners staff located around Australia.

“The Foundation Committee encourages all employees to get involved in causes that they are passionate about.

Over the past year, the Foundation has raised around $350,000 for charity and we plan to raise at least that amount every year”, Earl said.

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Graham Hook and Earl Evans

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.

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.

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.

Written by Alison, February 2017.

http://www.autismawareness.com.au/

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New Fragile X Clinical Trial in Australia A skin gel for the treatment of symptoms of Fragile X syndrome in people aged 8-17 years old.

Trial sites confirmed in Melbourne and Brisbane; Sydney to be confirmed. 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 h.heussler@qld.gov.au

Sydney:

Westmead Children’s Hospital (Dr Natalie Silove) Contact Child Development Unit (02) 9845 2395

Fragile X Carrier / FTXAS Clinic This is a dedicated service for carriers of Fragile X and their families, including those who have some concerns about or may be at risk of developing FXTAS. Made possible by the generous support of the Cunningham family, this monthly clinic is being run by neurologists Associate Professor Stephen Tisch and Dr Sam Bolitho.

The clinic also offers consultation with a qualified counsellor, Janie Roberts, who is well known to many FX families.

The clinic offers an initial 1-hour consultation with Dr Tisch or Dr Bolitho, and followup appointments and referrals.

Places available in 2017: May 1st & 29th, July 10th & 31st, August 28th, Sept 25th, Oct 30th, Nov 27th.

The clinic takes place on one Monday afternoon a month.

At present, FXAA coordinates the clinic’s scheduling.

To make an appointment at the clinic: contact Wendy: wendy@fragilex.org.au or call 1300 394 636

International FXTAS Consortium (IFC) to Launch in 2017

Robby Miller, Prof Randi Hagerman, Dr Sam Bolitho Collaborative initiative: UC Davis MIND Institute (California) National Fragile X Foundation (US) Fragile X Association of Australia

Currently there are only a small number of clinicians and hospitals around the world that have a FXTAS focus.

This has meant many people with FXTAS have had a long journey trying to find the best care.

The MIND Institute will provide the clinical and research oversight and coordination of the consortium.

This will include disseminating the latest research and treatment news and an annual meeting.

The IFC will allow clinicians and researchers around the world to: 1. Share their expertise on treatments and studies 2. Promote collaboration across institutions and, in time, 3. Assist with the diagnosis of patients through telemedicine.

Dr Randi Hagerman and core members will take leading roles in discussions about research and treatment questions, challenges and opportunities.

A donation made to FXAA has enabled us to help support this important Initiative which, in the long term, will increase knowledge of FXTAS in the Australian medical community and benefit patients who have FXTAS.

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Fragile X and the Medical Community The first quarter of this year has been a busy one for medical communications. The year began with Reed Medical Education making good on its commitment to produce two expert videos for FXAA that will form part of Reed’s online medical education program called ThinkGP. ThinkGP provides free online education for primary care practitioners, including around 15,000 GPs, to support better health outcomes for patients.

In January, Dr Jonathan Cohen, GP and Director of Fragile X Alliance, Mike Tozer, parent of a young son with Fragile X syndrome, and Dr Cynthia Roberts, parent of an adult son with Fragile x syndrome, together with FXAA staff, joined the ThinkGP team to film two videos that will be uploaded to the online education platform, and also made available to Fragile X Association for use on our website and other channels.

The videos are designed to educate GPs about the need for early and accurate diagnosis of Fragile X syndrome, and provide insights into the issues parents and carers face in managing a child with the condition, including how these issues change as children develop into adulthood. We are incredibly grateful to Jonathan, Mike and Cynthia for their time and professionalism in preparing for and responding to our questions on video, and to Jonathan for making the trip up from Melbourne to provide his expert input.

We are also indebted to Reed Medical Education, specifically Dr John Crimmins, for his generosity and support of Fragile X Association.

We will let you know when the videos are available on our website.

Dr Jonathan Cohen, Katrina Weir, Mike Tozer Cynthia Roberts

Cynthia Roberts

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Fragile X and the Medical Community Over the past two years, FXAA has had a strong working relationship with HealthEd, another major provider of GP education.

GP Education seminars We have had the opportunity to arrange a speaker and host an exhibition table at the one-day GP Education seminars held in each capital city around Australia. Each year, Fragile X Association has reached about 2,300 GPs through this opportunity.

Women’s and Children’s Health Update In a huge leap forward in our relationship with HealthEd, in 2017 we have also been given the opportunity to have an exhibition stand at the Annual Women’s and Children’s Health Update providing us with an ideal environment to discuss FXPOI (and to a lesser extent, FXTAS) with primary care providers.

Mary Wilson, Wendy Bruce, Bronwyn Kelleher

The Sydney event was held in February and attracted 1,500 delegates and 1,350 delegates attended the Melbourne event in March. We were thrilled with the level of interest at both events.

We couldn’t have managed the traffic to our table without the assistance of our fabulous volunteers, Simone Zaia in Sydney and Mary Wilson, Bronwyn Kelleher and Lisa Ryan in Melbourne. Thank you so much for your time and support.

We will also be having an exhibition table at the Brisbane, Adelaide and Perth events to be held later in the year. If you’re from these cities and might be able to volunteer some of your time, please let us know!

HealthEd has also offered to produce some videos for FXAA on various topics of interest to both the primary care audience and to our members.

We were fortunate to secure the support of Professor Rod Baber, Professor of Obstetrics and Gynaecology at Sydney Medical School, The University of Sydney and expert in primary ovarian insufficiency.

Professor Baber agreed to participate in our first video which is on FXPOI and at no cost to us. We are yet to see the result, but hope that it will provide a fabulous resource for members and others interested in FXPOI. Simone Zaia, Prof Rod Baber

Katrina Weir, Simone Zaia

Lisa Ryan, Mary Wilson

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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.

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.

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.

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.

Please feel free to email Sarah at: sarah.taylor@csueastbay.edu

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 Page 10

The Fragile X community got right behind the campaign! With daily facebook & twitter reminders from Wendy to keep us hard at it we were on the leaderboard for the second half of the campaign.

By video, Amanda and Mike Tozer urged us to push on to the finish line.

“Give it your all” said Mike. And we did!

December 2016 was a busy time for online voting!

Fragile X Association was one of 54 Australian charities nominated to take part in the 2016 #goodwill #giveback campaign run by telecommunications provider Chorus Call.

Thanks to everyone who got behind the campaign by voting for us each day, and sharing our posts with with your family, friends and workmates.

We were one of the smallest charities to enter, and it was people power that got us over the line.

This great initiative allows charities large and small to compete for a fabulous prize: $10,000 cash AND audio & web conferencing

We’ll use the cash prize to support Fragile X workshops and we’re keen to set up some webinars.

Lucy and Victoria from Chorus Call, with Wendy and Amanda

Thanks again to everyone who voted for us!!

A fantastic part of the prize is access to webinar technology over the next 12 months.

Let’s webinar!! We’re keen to know what topics and speakers you’d like to hear about.

Some suggestions so far are: behaviours, learning strategies, sleep, anxiety, the teenage years, transitioning from high school, FXPOI, FXTAS, health challenges for adults with FXS, NDIS, sensory processing, siblings, family support.

What topics related to Fragile X do you think we could focus on? Let us know.

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The benefits of letter writing are well known. It has been said that writing helps clear your mind, puts life events into perspective, can help recover memories, make you feel like you have accomplished something and is a great mental exercise 1. But what about writing a letter to Fragile X syndrome?

That’s exactly what video blogger RubyInWonderland did.

Inspired by a friend who did something similar, she filmed herself writing the letter, added the voiceover, and uploaded it to her YouTube channel. Ruby says it was a great way for her to explain how Fragile X has affected her life, both in the past and now, as well as being a creative way to get information about Fragile X out to the world.

Queensland- based Ruby was 15 years old when she was diagnosed with Fragile X syndrome. However, she always felt there was something different about her and that she didn’t fit into school or friendship groups easily.

She has two brothers with disabilities who attended a special school but as a young girl, she had no idea what type of disability they had. Eventually her mother had all three children tested and once it was confirmed that Ruby had Fragile X syndrome, the doctor attempted to explain the implications to her but she didn’t fully understand and her mother insisted that she keep the diagnosis a secret. All Ruby really knew was that she had a learning disability.

In her letter to Fragile X, Ruby writes, “I wanted to get rid of you but I couldn’t so I put you in the back of my mind and tried to ignore you as much as possible.”

But it’s difficult to ignore a condition that pops up every day and affects so many aspects of your life, particularly when you have no support and not even the doctors knew anything much about it.

a cat and two goldfish). She now describes herself as a wonderful person, “the most loving and caring person you will ever meet.” Ruby says that although she is shy at first, once she becomes comfortable, she will talk your ears off!

She loves helping people in need and is always there for her family and friends.

Like many women with Fragile X, she lacks some confidence but says she is working on this. She also suffers from anxiety but deep down, is strong and fights this every day. But overall, Ruby describes herself as funny, honest and a great listener. In her spare time, she makes videos for her Youtube channel, plays video games, reads, crochets and of course, writes.

Ruby has had jobs in the past and would like to again.

Her dream is to be a hairdresser and she hasn’t given up on realising this.

But in the meantime, she is happy spending time with her beautiful family and friends.

And so back to the benefits of writing. Ruby says that she has now accepted that without Fragile X syndrome, she wouldn’t be the person that she is today. That level of acceptance shows the value of putting life’s events into perspective and is a great accomplishment. Fragile X Association would like to thank Ruby for telling her personal story by writing a letter to Fragile X, and for allowing us to share it with our members and broader Fragile X community.

Video: watch Ruby’s Letter to Fragile X on youtube Follow Ruby on youtube, twitter and Instagram at zombeekittymeow

“It took a long time to get to know myself. I had a really tough time because I felt lost for most of my life,” explains Reference: Ruby. But life has really turned around for Ruby who https://www.skillsyouneed.com/rhubarb/writing-benefits.html is now a wife and mother to a beautiful little girl (plus Page 12

The Uniqueness of Females with Fragile X syndrome

By Dr Marcia Braden.

This article first appeared on the National Fragile X Foundation website www.fragilex.org in 2017.

Reproduced with the permission of Dr Braden.

Much is written about boys with Fragile X syndrome, because the symptoms tend to appear to be more frequent and severe. However, girls with Fragile X syndrome may also present with a variety of challenges.

Females with FXS show a high frequency of avoidant behavior, mood disorders, attention deficits and learning disabilities. They are significantly more withdrawn and depressed than their typical cohorts. This makes them most vulnerable to social anxiety and avoidance.

Extreme Shyness One of the most challenging symptoms associated with FXS in females is extreme shyness. It is not unusual to see young girls hiding behind their parents, crying when asked to participate in conversation, unable to separate from parents and whispering or even appearing mute in social settings. Desensitization through repeated exposure may be required in order for them to tolerate group activities.

Self Injury and Bullies

Anxiety also manifests in certain aberrant behaviors, such as self-injury. Although not as severe as similar behavior seen in males with FXS, girls tend to self-injure in a more subtle fashion. For example, what begins as picking a scab can evolve into a persistent picking at her arms or legs, causing scarring and extreme discomfort. The compulsion is so powerful that the girl is often unable to stop.

She then becomes very self-conscious of the behavior As these girls grow older, their shyness often translates and often tries to cover her arms with long sleeves or covinto significant social anxiety. This anxiety can manifest in er the picked scabs with band-aids. a number of problematic behaviors that result from feeble attempts to cope with its effects. For example, it is comGirls with FXS also report being bullied or isolated from mon for such girls to agree to a social plan and then others in school. Being unable to read social cues or unspend the ensuing days physically ill with stomach disderstand social consequences fuels their alienation and tress, or headaches, because they’re terrified of participat- avoidance. Female peers are often more socially motivating and don’t know how to get out of the obligation. Pared, which can make them less accepting of those with ents often find themselves in a position of running interFXS. ference by making excuses for their daughter or attempting to explain the illness to others. The problem persists When these conflicts manifest, girls with FXS tend to lack as the girl faces further humiliation about why she contin- the confidence to confront their peers or express their ues to let others down. Many girls have told me they know feelings of hurt. Because they seem to be more sensitive when they want to decline an invitation but fear the fallout to criticism and have difficulty communicating their feelfrom saying no. ings, they are perceived as weak and vulnerable. This stance does not bode well for maintaining a position of Solutions to this dilemma include the girl memorizing a power and self-sufficiency. The sad result is they can beset response when she wants to say no. This allows her come convenient targets for bullying. time to separate from the intensity associated with the expectation. Phrases like “I’ll have to check my schedule,” Because many of these behaviors result from neurobiolo“I need to see what my family plans are,” or a simple “I gy, it is often good to consult a physician. Many girls are think I may have a conflict” take the harshness out of say- helped significantly by SSRIs and other anti-anxiety/ ing no and afford the girl more time to think it through. depression medications.

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Also effective in building social assertion is providing concrete phrases for the girl to assert a position and then videotaping her responding to a specific event, or vignette, using the phrase she has practiced. Another tool is to watch a favorite movie and pause it to discuss the nonverbal behavior of the characters. This may provide the girl with helpful cues to assist in adjusting her own behavior.

Attention, Speech and Academic Struggles Girls with FXS also struggle with attention deficits that further complicate their social interaction. Being distracted, or forgetting pertinent information from a conversation, does not foster social viability.

Perseverative language is often a hallmark of conversation in girls with FXS. As the girl becomes more emotionally scattered, she tends to repeat key phrases or may attempt to emphasize a certain aspect of the conversation over and over. The lack of emotional regulation feeds this tendency and causes the listener to become bored with the conversation while dismissing its merits.

To help combat this, you may try videotaping conversations in a therapy session, providing the girl an opportunity to watch and hear the repetitious language. Sometimes it helps to use a counter to document the number of times certain phrases are repeated, thus making the intervention more concrete.

Executive Function and Novel Situations Lack of executive functioning (the ability to sum up intention, form a plan and execute it) is another characteristic commonly associated with FXS in girls. Lack of followthrough becomes a concern, as completing homework and keeping commitments eludes them. School staff may see the girl with FXS as lazy and unmotivated. Providing visual supports to explain the planning-and-executing process often helps promote completion.

Keeping a digital calendar on a smart phone with alarms set as reminders can be a helpful strategy for girls to remember scheduled events and appointments. Using iPhone applications, such as Cozi, enables family members to add information and reminders from other devices to keep schedules, grocery lists and assignments current.

Many parents report that their daughters have difficulty with novel or unfamiliar tasks or activities. Fear of risktaking can cause them to avoid engagement in new activities. Routine is welcomed because it is predictable and reassuring. As a matter of fact, routine can become so addictive that elaborate rituals and compulsive behaviors become enshrined. Preserving sameness is soothing, and the girls tend to perpetuate doing things the same way over and over as a strategy to help them remain calm.

Obviously, this coping method competes with the human need for variety and new experience, and thus causes its own stress.

To help this issue, schedule a novel activity that is wellsupported and then follow it with a routine task or activity.

This can help defuse fear and foster motivation to tolerate the novel activity.

Academic difficulties may cause girls with FXS to lack the confidence necessary to succeed in school. Many studies report deficits in attention in a global sense and math in particular. These deficits are common and often pervasive, with a negative effect on school performance. Often, Unfortunately, the need to preserve sameness does not the deficits are not identified or diagnosed until later manifest as a skill in personal organization. Quite the opyears, and remediation is thus delayed. posite, actually, as girls with FXS frequently have great difficulty keeping their rooms organized, cars clean or perDifficulty with math can also affect the girl’s ability to un- sonal items stored in an orderly manner. The obvious neuderstand the use and value of money. Managing money robiological culprits are attention and executive function and being able to budget often pose great challenges to deficits. girls with FXS. Parents often report that their daughter spends money on frivolous items and often tries to “buy� Common sense would tell us that providing less is often friends by spending money on trinkets and other gifts for more. Unfortunately, girls with FXS often love collections peers. and saving mementos, such as ticket stubs from football games and concerts. These and other paraphernalia A potential solution is to teach the girl how to track money make it more difficult to purge unnecessary clutter. using a software program like Quicken. Try limiting her Providing a designated place for articles of clothing, shoes credit card use, changing credit cards into debit cards and personal items helps keep things organized. Having a only and organizing her spending by using envelopes crate in the car for items that may be occasionally needed marked with budget items. Sometimes it is best to cash a is also helpful. A daily list of chores can be posted on a paycheck and then divide the cash into categories in sep- white board as a simple visual reminder of what needs to arate envelopes to pay the bills in a very concrete way. be done before leaving the house.

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Some parents insist that the boyfriend attend therapy with the girl in order to force discussion about responsible Many females affected with FXS are excellent writers who behaviors. Parents have had to limit access to money, create wonderful stories. One woman explained that she credit cards and checkbooks when they sense manipulawas much more able to express emotion through a fiction. These challenges, although not entirely unique to tional character than through her real life experiences. girls with FXS, can bring much distress to families.

Analogies and abstract literary techniques allow for expression of inspiring imagery and interesting stories.

On the other hand, some girls fear relationships, getting These girls are usually good readers who enjoy fantasy married and having children. They liken their future lives and fictional stories. Therefore, using a journal to write to the one they know well, perhaps riddled with difficulties down their feelings is often a successful therapeutic tool. and disappointments associated with a family member

Capitalizing on Creativity

even more affected than they are.

Others nurture their creative tendencies through art forms, crafts and home decorating. Younger girls often enjoy paint-by-numbers, word searches and pattern drawing. It appears that the structure is welcomed, providing them a sense of closure when the task is completed. Here is where the universality of art can hold great riches for girls with FXS. Parents and teachers do well to nurture these impulses whenever possible.

The Relationship Challenge Relationships pose a significant challenge throughout the life span. Teenage girls can become enamored with pop stars, musicians and actors. They often fantasize romantic relationships and at times even believe they have a secret relationship with a celebrity.

Their issues related to shyness and inability to express feelings complicates relationships. They may gravitate to males who have ulterior motives because the males are attentive and initially offer emotional support. This can result in manipulation and exploitation of the girl with FXS. Allowing girls to experience the “hard lessons” of life and apply them to relationships can be risky and may even estrange parents from their daughters. Giving advice or limiting access to a male friend only provokes feelings of resentment. Yes, this may all sound virtually identical to typically developing teenage girls, but girls with FXS are far more vulnerable on any number of fronts, without ready access to typical defenses that can ease their passage through this difficult developmental period.

The idea of having a boyfriend is very powerful, as it makes a girl feel both “normal” and “special.” This can bring angst to families and often requires specific intervention from a person trained to be impartial. Allowing the girl to talk with a therapist gives her another voice of reason that she may feel is less judgmental.

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This complex thicket of relationships has no easy solution, which reminds us again that the typical population has its own lifelong relationship challenges! Strategies for addressing those challenges in girls with FXS may include establishing “dating rules” such as:



Never give out your phone number or address until the boy meets your parent(s).



Be friends first and then you see how you both feel about deepening the relationship.

 

Never give a boyfriend your checkbook or credit card.

Split expenses when you go out.

Attentive parents can help set a tone for all this by spending time with and taking an active interest in the prospective “boyfriend.” Invite him to dinner, movies and other family activities. This helps ensure sure the friendship develops on solid and observable footing, not in isolation from broader family relationships, norms and values.

Lost in Space Girls with FXS usually have difficulty with visual-spatial relationships. This causes them to get lost and struggle with navigating school environments and communities.

Driving can pose additional challenges related to parking, finding desired locations, judging space between cars and remembering rules of the road. However, with good training and monitoring, such girls can learn to drive successfully, which gives them great freedom and access to jobs, social events and their communities. All this creates a positive loop for their building of confidence and selfesteem.

A possible solution for getting lost or forgetting directions is to teach the girl to use a GPS. This works well because the voice on the device alerts her to the map and offers directions for finding her way. Also, the prevalence of cell phones now allows girls to call a parent when they are lost, which helps reduce anxiety on both ends of the line!

A Brightening Future Girls with FXS often show an interest in working at daycare centers, beauty salons, animal shelters or veterinarian offices.

The future for girls affected by FXS is bright. They bring much joy to their families and can be very helpful to family members and friends. They often become productive Many attend community colleges and some earn degrees members of their communities and bring understanding from four-year colleges. to those who are more affected, serving as conduits to their brothers and other relatives who may have more Academic environments can be stressful, but the girls significant needs. The more we learn about these girls, often power through and accomplish meaningful goals the more effective our interventions and support strucwith great pride. I have seen it happen, and they are not tures become in assisting them to live personally fulfilling isolated events. lives.

Marcia Braden, PhD is based in Denver, Colorado, in the Unites States. She is a licensed psychologist with a clinical practice specializing in children and adolescents. She is a former teacher with experience teaching general and special education. She has written and published numerous articles related to education and behavior management strategies, techniques, and interventions. This column was supported by the work of Katherine Zwink, Having Fragile X Syndrome: A Personal Account, Advances in Mental Health and Intellectual Disabilities 2011.

Behaviour Management Strategies in Fragile X Syndrome Marcia will be in Australia in late October 2017 to present at workshops run by Fragile X Association in Brisbane and Hobart. Marcia will also give one or two webinars on related topics, and offer some clinical assessments. Marcia was last in Australia in 2015, and ran workshops in Melbourne and Sydney.

Getting ready ....

This terrific workbook will help you be as prepared as possible. Use it to identify what supports your child has now, what you might like to change, goals for the future and the supports needed to reach those goals.

Highly recommended by Amanda.

Free download: http://acd.org.au/acd-ndis-support-2/ndis-planning-workbook/

Questions about the NDIS? Call Amanda in the Fragile X office if you have any queries about planning for the NDIS, or any other aspects of the NDIS. Call Amanda on 1300 394 636 OR email amanda@fragilex.org.au

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Fundraising Raffle 2017 Thanks to the Semple family— Tim, Sonjah, Kye and Lewis— for arranging for surfing champion Bede Durbidge to donate one of his competition boards to Fragile X as a fundraiser this year!

This special Mt Woodgee board had been made for Bede, and was signed for Fragile X Association by Bede, Mick Fanning and Joel Parkinson.

Many thanks to Bede, his wife Tarryn, and Bede’s sponsors for donating the board as a fundraiser. Over $1300 was raised!

Raffle tickets were sold in February right up to the morning of the raffle. We sold tickets online, through friends, family, neighbours, you name it. The raffle was a great awareness raiser for Fragile X— Surfing Australia, and a host of other surfing social media sites shared our posts, as did Bede and Mt Woodgee Surboards.

The winning raffle ticket was drawn at the start of the Australian Open of Surfing Championship in Manly—perfect timing! - on the morning of the Bridge to Beach race.

So this beautiful board has a new home—in Brisbane with Chanelle Avison and her family. The Board was delivered to Chanelle by James Hook, son of Fragile X Association President, Graham.

A fun way to raise funds and raise awareness of Fragile X!

Kye and Lewis —before the raffle!

Photo credit: photo of Bede Durbidge: Andrew Shield

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James presenting the board to Chanelle!

Managing Stress and Anxiety —Practical Strategies That Work and Why Breathing practices work because the physical aspect of anxiety is all about the stress response system having been activated by an external stressor or situation or an internal thought; memory or feeling.

By practising mindful breathing you can teach yourself an effective way to respond to a stress response in your body, and to switch into a relaxed state more easily. Breathing slowly and deeply sends a message to your stress response system that all is well "we don't need to be on high alert".

When you are well practised at using the breath to slow down; relax and switch off the stress response system, you will be able to make use of it more easily in a crisis if you need to (a bit like a fire drill) Exercise If you can try to do some exercise everyday even a short 20 min brisk walk around the block is a great start and will help process the stress hormones/chemicals through the body and release the feel good ones. When you walk somewhere nice you are also getting a lot of sensory input which can be really good to focus on (e.g. a walk along the beachfront gives you the smell of salt; feel of the air/sun on your skin; the sound of the waves and so on.)

Distraction Things that may help are putting on music you like; talk back radio or listening to a pod cast; or try an audio book downloaded as a way of keeping a busy mind occupied. This can be good to do if you get a chance to go for a walk or even while you are doing some jobs around the house.

Everyday Mindfulness and Tuning In Finding a particular spot in the house – e g the kitchen sink to do a quick tuning in whenever you remember. 



Body scan - Where am I holding tension in my body? Start at your head and work your way down your body – see if you can release any tension in your muscles What was I just thinking? How am I feeling?

Some good questions to ask yourself, when being pushed around by worry/anxiety/unhelpful thoughts     

What would a good friend say to me about this?

What would I say to a good friend?

What is the worst thing that could happen in this case?

How likely is this to happen?

How tangled up in this thought/feeling do I want to be right now?

Establish a worry time (max 15 mins) Choose a time in the day where you will address the issues that have been worrying you. Keep a notebook somewhere easily accessible in the house.

During the day if you catch yourself caught up in unhelpful thoughts, write down the worry or thought. If the thought keeps turning up, tell yourself that you will spend some time on it during your worry time. This allows you to acknowledge the issue/worry but not be caught up in it all day or trying to squash it down or push it away. When you sit to attend to it during worry time, ask yourself “Is there something I can do about this? “If yes, then nominate an action/s. If no, then write that down next to the worry.

These strategies work because they can help you to be more aware of what is happening often automatically in your body and mind and gives you capacity a number of times a day to take some small steps moving in your desired direction of feeling happier and less anxious.

Amanda Rummery-Hoy Family Support Counsellor

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If we can help with anything please get in touch 1300 394 636 or support@fragilex.org.au The Fragile X Association office is in Sydney. We’re a small team!

Amanda is our Family Support Counsellor.

Katrina has a focus on FX knowledge in the medical community.

Wendy coordinates the board, arranges our events, answers our Help Line, writes the newsletter and does our social media.

Thanks to everyone who voted for us in the Chorus Call online voting competition!

A fantastic part of the prize is access to webinar technology over the next 12 months.

Let’s webinar!! We’re keen to know what topics and speakers you’d like to hear about.

Some suggestions so far are: behaviours, learning strategies, sleep, anxiety, the teenage years, transitioning from high school, FXPOI, FXTAS, health challenges for adults with FXS, NDIS, sensory processing, siblings, family support.

What topics related to Fragile X do you think we could focus on?

Fathers of children who have Fragile X syndrome New Study

The NSW Genetics of Learning Disability (GOLD) Service, in collaboration with the University of Sydney Master of Genetic Counselling Program, is inviting Australian-based fathers of children with Fragile X syndrome to talk about their experiences surrounding their child’s diagnosis of FXS. The information provided will be used to inform improvements in how genetic services provide support to families of children with FXS. More info about this project will be available soon.

Calling all Fragile X Dads... ...join our Facebook group to connect with other Dads.

The group is a friendly, safe place for Dads with a child affected by Fragile X to discuss whatever they want!

Search for "Fragile X Dads Australia" Phil Eastbury Page 19

Websites

www.fragilex.org.au

www.fragilex.org www.fragilex.org.uk

https://issuu.com/

Online publications

search for “Fragile X”

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Trish & Graham Piper, from Glenorie in the Hills district of Sydney,opened their garden for the annual Galston & District Garden Club community fundraiser.

The Garden Club had a very successful fundraiser, donating to more than 20 community groups and charities. $3,000 from the money raised was donated to Fragile X Association. Masonicare generously agreed to match this amount $ for $, a total donation of $6,000.

Over the years the support provided by the Garden Club and Masonicare has been substantial and an important source of funds for our family support role.

Thanks to our members and friends—for your volunteering, fundraising, ideas, connections, and much more.

Your support makes the world of difference to what we can do for the Fragile X community!

Kate Stokes!

Kate has created our new graphics and newsletter design.

The Capital & Improvement Team at GrainCorp profiled Fragile X at their recent offsite event in the Blue mountains.

Each member of the team wore specially made t-shirts, and wore orange ribbons.

And orange FX balloons were a feature of the formal dinner.

It’s fantastic to have their support in increasing awareness of Fragile X, and the team raised close to $1,000! Go team!

The team from Buzz Childcare Recruitment in Sydney has a “Year of giving back’” campaign throughout 2017. Each month they’ll make a donation to a charity which supports the wellbeing of children.

In February the Buzz team sent us a donation of $500! This will help fund the support that we can provide to Fragile X families.

Thanks to Andrew from tech support company AP Technologies for donating this Swivl device to us.

Amanda and Wendy are looking forward to making some video grabs for our social media and website.

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Landmark Study Exposes Deadly Cost of Disability Discrimination

A recent study led by Professor Julian Trollor of 3DN at University of NSW “confirms that substantial health inequities remain for people with intellectual disability (ID)”.

The study focussed on all deaths of people who were receiving intellectual disability services in NSW from 2005 to 2011. The study found: • 38% of deaths of people with intellectual disability were potentially avoidable.

• People with intellectual disability died 27 years earlier than the general population. The average age at death for people with intellectual disability was 54 years, compared with 81 years for the general population • 76% of deaths in people with intellectual disability occurred prior to age 65 years. In the general population, only about 20% of people die before age 65.

• The top causes of avoidable deaths were cardiovascular, infections, cancer and respiratory diseases. [NSW CID website]

Parliamentary Forum: End Deadly Disability Discrimination The NSW Council for Intellectual Disability has been lobbying government to take action. On 31 March 2017 it convened a forum at NSW Parliament to “shed light on the deadly cost of disability discrimination in the NSW health system and what can be done to prevent cracks in disability health from widening.” Speakers at the forum included Minister for Disability Services, Hon Raymond Williams, Shadow Minister for Disability Services, Hon Sophie Cotsis, Professor Julian Trollor, NSW Council for Intellectual Disability Chair Michael Sullivan, as well as other people with intellectual disability, their families and carers who talked about their first-hand experience of NSW hospitals and health services.

The forum was livestreamed and can be viewed on the NSWCID facebook page and website.

For more detail: see the NSW Council for Intellectual Disa“This study is ground breaking in Australia given its size bility website: www.nswcid.org.au and that it systematically examines mortality in a large population of people with ID who use disability services.

The full report can be viewed here: http:// Although there are limitations to the study, the policy im- bmjopen.bmj.com/content/7/2/e013489 plications for health and disability services are undeniable.

Whole of system responses are urgently required to address existing barriers to prevention, early detection and treatment of health conditions experienced by people with ID.” [AADDMM website] Jim Simpson, from NSW CID said, “This study is stark evidence that people with intellectual disability are very poorly serviced by the health system. Time and again, people with intellectual disability and their families report to us that health professionals do not understand their needs and, in some cases, are flagrantly discriminatory.”

The report was profiled on the ABC program 7:30 Report on 7 February 2017. (available on iview)

Prof Julian Trollor, UNSW

Dr Jacki Small, ADDM Michael Sullivan, NSW CID

Jim Simpson, NSW CID Page 22

f

FXAA BOARD MEMBERS 2016-2017 FXXAA BOARD MEMBERS

There will be two vacancies on the Board in October, due to the planned retirement of two of the directors.

Frominterested top left to Hook (President , from NSW), Judith Lenart (Secretary, from NSW), Lisa If you’re in right: joiningGraham our Ryan (Treasurer, from VIC), Nadene Lee (Director, from NSW), Mike Tozer (Director, from NSW), Cathy Board of volunteer directors, we’d love to hear from you.

Contact Iredale or Wendy Bruce: 1300 394 636 or wendy@fragilex.org.au Love Robyn (Director, from VIC), Nyleta McRae (Director, from QLD), Katherine Brown (Director, from SA)

DIARY DATES

October

June Membership renewals due

July Fragile X Awareness Day Saturday 22nd July

September 29th Language & communications workshop—Sydney

October Round the world—FragileXpedition fundraiser Fragile X Information days—Brisbane, Hobart

November 26th Annual General Meeting—Sydney

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