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June 2017 Passion Passionfor forSport Sport Workshops Workshops FX FXFathers FathersStudy Study

Clinical ClinicalTrial Trial Healthcare Healthcareand andIDID FX FXAwareness AwarenessMonth! Month! and more‌...

Matt Bowen

Sports enthusiast FX Achievement Award 2016


Welcome to the middle of the year! The Association has had some successes over the past few months, and we look forward to welcoming Dr Marcia Braden to Australia to run some workshops and seminars in November. Dr Marcia Braden is an expert in Fragile X and well known for her expertise in learning strategies and behaviour management. We’re delighted that Dr Jonathan Cohen from Melbourne will co-present with Marcia in Brisbane and Hobart. Marcia Williamsz, who is a highly regarded speech pathologist at Westmead Children’s Hospital, has also offered to run a dedicated workshop on speech and language for us in Sydney in September. Fragile X Awareness Month is July.... We’ve been busy on our program to illuminate key landmarks around the country. Following the success of Nyleta McRae’s efforts in Brisbane having the Story and Victoria Bridges lit up orange, and Jo Ryan and Shane Lyons with the Launceston Town Hall, we have gone further afield. You can expect to see prominent buildings in each capital city light up orange! I would like to thank Shane Lyons for organising a fundraising High Tea in Launceston to mark the event this year – 100 people have booked to attend! The key aim of Fragile X Awareness Day here, as in other countries, is to increase understanding of Fragile X conditions, which may lead to earlier diagnosis. Another aim for us this year is to reach outside our FX community to potential donors to help support the work of the Association. As you know, as an organization we do not receive government funding, and rely on donations, fundraising and grants to fund our staff, services and the resources we provide to our community. We are very thankful for a recent generous donation from one of our member families that will support additional counselling resource for six months. The demand for family support and counselling is growing and it’s critical that we meet the need for that support. To help frame our fundraising efforts, the Board has developed a fundraising strategy which is the starting point for the approach we plan to use in coordinating the funding activities and initiatives. I would like to thank our Board director Nadene Lee for the significant time she has spent in researching and drafting this approach. It will be a living document and will grow as we develop further. A co-ordinated fundraising strategy is important because in 2018 we will receive the final portion of a grant from a major private foundation. This foundation has been very generous in supporting the Association over the past 13 years. For the period 2016-2018 they have funded almost 50% of our operating costs each year. Replacing these funds is the Board’s highest priority. We need your help. The composition of the Board is intentionally diverse to enhance variety of ideas and networks. We are all volunteers with “day jobs” and family commitments. While we are making the best effort we can, we would welcome any additional support with fundraising and other activities you can provide. Securing new funding is essential, so if you have or know someone with those fundraising skills or access to networks please contact us. If you have connections outside our FX community, please use them or put us in contact with them. There is no shame in asking for help. The not for profit sector in Australia is 600,000 registered organisations and it is extremely competitive. Many thanks to everyone who is already working with us, both in securing resources and in helping us to provide support to the Fragile X community. We very much appreciate your involvement!

Graham Hook, President, FXAA Page 2


July is Fragile X Awareness Month What’s on this year to celebrate and help raise awareness of Fragile X? Taking inspiration from last year, a festival of orange across the country! Ribbons, and twibbons. Fabulous new posters. Videos. Daily posts on social media. Events, here and there —a High Tea in Launceston, a popup market in Brisbane, a FX display in a major office building in Melbourne. Great packs for kindergartens, schools, or your workplace! We lit up orange in Brisbane and Launceston last year. This time we’re going cross country, lighting up landmarks in capital cities. Get in touch if you’re planning something special and would like us to send you posters, ribbons, pens etc Follow us on social media and tag your photos

#lightupforfx #goOrangeforFX #XforFX

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SA Special Olympian of the Year Matt Phillips Matt Phillips is from Adelaide. He is passionate about cricket, and a skilled batsman. Matt’s school newsletter recently reported: “In May, Matt Phillips proudly represented South Australia in Queensland as part of the SA Special Olympics Field Cricket team. Matt competes as part of the Special Olympic Strikers in the open competition, and remarkably has done since the age of 13. He also holds claim to fame as a batsman who has never been run out! – a very talented young man. The SA team placed second in Queensland, no doubt in part due to Matt scoring 26 runs, including 3 boundaries in one of the matches. Matt’s story is one of great success, perseverance and pride, with Matt claiming he would need to be the last one out of the plane because he had so many medals to carry home.”

[Suneden Special School newsletter, May 2017]

On 2nd June 2017 at the SA Special Olympics Awards event, Matt Philips was awarded the high distinction of being named South Australian Special Olympian

for his achievements in cricket with The Strikers. Congratulations Matt!

Double Gold in Bowling for Nicole and Shane Nicole and Shane Hill are from Gawler in South Australia. They’re very keen bowlers, and have been bowling every Friday in the nearby town of Elizabeth for 10 years! They’ve also become very involved in Special Olympics bowling, playing for two different teams. Their bowling group in Gawler competes in different locations against 4 teams, in a statewide competition. In the SA State Games in early June, after two days of very stiff competition, both Nicole’s team and Shane’s team took home the gold! Page 4


Building Independence and Social Skills Through Love of Sport Matthew Bowen, from Launceston, was a Fragile X Achievement Award winner in 2016. In 2016 Matt represented Tasmania on two interstate sporting trips. He was selected in the Tasmanian Indoor Cricket team which competed in the Lord’s Taverners Shield* at the Australian Open Indoor Championships in Springvale, Victoria in June 2016. He was also selected in the Tasmanian AFL Inclusion team which competed at the AFL Inclusion Carnival in Melbourne in August 2016.

Matt has just this month been selected for the Tasmanian AFL Inclusion Team, to play at the AFL Inclusion Carnival on the Gold Coast in July. “Over the years, we have found the local primary and high school were great for Matt in their ability to include him in all activities. And everyone was able to learn something from him, including the students and teachers”.

Aside from his love of cricket and AFL, Matt is also a keen Matt’s first interstate trip was in 2015 when he competed fisherman, last year buying his in the AFL Inclusion Carnival and he has just been select- own boat and passing his ed in the Tasmanian team that will compete in the Nation- recreational boat licence, and is al Cricket Inclusion Championships in Geelong, Victoria, in a very good golfer which, accordJanuary 2017. Significantly, Matt, now 27 years old, has ing to his mum Sue, is probably Fragile X syndrome, and so far, has travelled interstate his favourite sport. without the day-to-day support of his parents. He manages independently with minimal assistance from the team Just to top off his sporting achievements, Matt has been management. a state champion for Special Olympics for a number of Like his cricket hero and fellow years and was placed 4th in Australia at the National SpeTasmanian, Ricky Ponting, Matt’s cial Olympics in Melbourne in 2014, and won the State cricket instincts must be innate. Special Olympics Golf Championship last November. He He started playing indoor cricket is a member of Prospect Vale Golf Club and enjoys play2 years ago because several of ing with many different members which is a great experihis friends at New Horizons Club, ence for Matt and his opponents. Even his cricket coach a voluntary organisation that pro- has been brave enough to take him out for a round! vides sport and recreation for people with disabilities, were also In 2016, Matt’s parents nominated him for a Fragile X keen to play. Achievement Award because through his sport, and particularly his interstate trips, he has become more indeBefore he knew it, he was select- pendent, outgoing and socially involved. ed in the Tasmanian team and off to compete in Victoria. Although the team didn’t win any “The interstate trips have certainly brought out the best in games, they had a wonderful time including attending an him”, says his mum, Sue. Australia v Greece soccer game at Etihad Stadium and a dinner at the famous MCG (Melbourne Cricket Ground) “Having seen the positive impact on Matt, we would enwith the open men, open women, under 21s and Lord’s courage all parents of children with Fragile X syndrome to Taverners teams. get their children involved with clubs, whether disability groups or inclusive sports, because it’s a great way to His trajectory to the Tasmanian AFL Inclusion team was make new friends and build self-esteem. similar. Having played Auskick at primary school, and being a member of a premiership high school football “Some of these friends can be very great role models and team several years earlier, Matt was very excited and have a positive influence on your own child”, Sue said. proud to be selected in his first state AFL team in 2015 and then again in 2016. Again, the team didn’t win any *The Lord’s Taverners Shield started in 1994 and is a nagames but had a marvellous time and many wonderful tional event for indoor cricket players with an intellectual experiences. Not everyone has had the opportunity to disability. The Australian Indoor Cricket Federation was play on the MCG AND Etihad Stadium at half time of an the first Australian sporting organisation to embrace the AFL game! idea of inclusion and hosts the event every year alongside the National Open event. Despite not having played AFL in more recent times, Matt has always loved the game and his parents, Sue and Greg Bowen, attribute his selection in part to his earlier school experiences. Page 5


Thank you to all the families who shared these fabulous photos as part of our Fragile X Awareness campaign. And this is just a selection of our new posters! They’ll be showcased on our social media and website during July. Many thanks to Kate Stokes, from Tasmania, aunt of Harry and Tommy, for making all of our posters and social media images this year.

Light up for Fragile X—Saturday 22 July Ribbons, posters, schools packs, pens Let us know if you’d like a pack of FX materials to help increase understanding of Fragile X in a school, classroom, kindy, or workplace. Order from: support@fragilex.org.au or call 1300 394 636

Last year we lit up orange in Brisbane and Launceston. This year we’ll light up cross-country! Perth, Adelaide, Canberra, Hobart, Melbourne, Sydney and Brisbane.

Brisbane 2016

#lightupforfx #goOrangeforFX #XforFX Page 18 Page 6


Information Days featuring Dr Marcia Braden and Dr Jonathan Cohen

We’re so delighted to announce that the Fragile X organisations in New Zealand and Australia have worked together to arrange for Dr Marcia Braden to visit in late October and early November. In New Zealand, Dr Braden will present at workshops and provide some assessment clinics in Auckland. In Australia, Dr Braden and Dr Jonathan Cohen will headline Information Days in Brisbane and Hobart. Dr Braden will also offer some clinic assessment appointments.

In 2015 Dr Jonathan Cohen and Dr Marcia Braden co-presented at FX workshops in Melbourne and Sydney.

Dr Braden’s presentation will focus on behaviour management and learning strategies. More detail about the program and making bookings will follow soon on our website, and social media.

Prof Randi Hagerman says: “Dr Braden is the most experienced psychologist in the field of Fragile X that I know. She has seen patients for over 20 years and her behavioural

Q&A with Marcia Braden on youtube

and academic programs have made a wonderful difference for the children she treats.”

Our youtube channel features a 1-hour video we made in 2015 during her last visit. In the video Marcia answers a range of questions from our members on managing behaviours and learning strategies in Fragile X. To watch the Q&A, follow the link on our website, or our facebook page. Or go to our youtube channel direct: http://bit.ly/2t7qtSj

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Thank you for voting for us! The prize we won in the Chorus Call competition earlier this year included a cash component, part of which is being used to support Dr Braden’s visit to Australia to present these workshops and clinics.


Fragile X and the Medical Community GP Education Over the past quarter, medical communications has focussed on finalising the ThinkGP videos and several different conference opportunities.

Women’s Health Medical Conferences Wendy headed to Adelaide on 20th May to man the stall at HealthEd’s Women’s and Children’s Health Update, together with Katherine Brown. Again, there was a huge As you might recall, ThinkGP, part of Reed Medical Educa- amount of interest from the 425 GPs who attended with tion, very generously produced two short videos for us some great conversations and a clear need for resources that are available on the ThinkGP platform for GP educa- about Fragile X syndrome, specifically on the health istion and have been made available to FXAA to distribute sues that some women can experience as carriers of the to our communities. One of the interviews features Frag- faulty fragile x gene. We will also be at this same event in ile X expert, Dr Jonathan Cohen, talking about diagnosing Brisbane and Perth in July and August respectively. and managing Fragile X syndrome and the other features two parents, Mike Tozer and Dr Cynthia Roberts, who Occupational Therapists National Conference each share their experiences of having a child with Fragile Finally, we’re working with Bev Kadish who has been choX syndrome. sen to present a short oral presentation at the upcoming OT Australia conference in Perth in July. Bev has been We are really pleased that ThinkGP has agreed to promote part of Dr Jonathan Cohen’s Fragile X Alliance Clinic for the videos to their database of around 30,000 health pro- some years. At the conference she will be speaking on fessionals during Fragile X Awareness Month. This pro“Managing hyperarousal as the key to managing motion will be accompanied by a blog post about the im- behaviours in Fragile X Syndrome.“ portance of GPs responding to parent concern about their child’s development. We’ll launch the videos via our social media in July. Maternal Child & Family Health Nurses Early in June, Amanda, our Family Support Counsellor, headed to Melbourne to speak at the Maternal Child and Family Health Nurse conference which attracted 900 delegates from around Australia. Amanda spoke on the critical role of maternal and child nurses in identifying developmental delay and reminded the audience of how well placed they are to recommend an early referral for assessment. It was a fabulous opportunity to get Fragile X syndrome front of mind with this very important group of health professionals who for many people, are the first point of contact with the health system post birth. We also have a range of other promotional opportunities with this group of health professionals.

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Fragile X Syndrome


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 offers an initial 1-hour consultation with Dr Bolitho, with follow-up visits as required. It also offers consultation with a qualified counsellor, Janie Roberts, who is well known to many FX families. The clinic is part of the International FXTAS Consortium, a group of clinicians and researchers, convened by Prof Randi Hagerman, with support from the National Fragile X Foundation and Fragile X Association of Australia.

Howard Jones on a follow-up visit with Dr Bolitho

2017 clinic places still available: July 10 & 31, August 28, Sept 25, Oct 30, Nov 27. To make a booking, contact Wendy Bruce: wendy@fragilex.org.au or call 1300 394 636

New Fragile X Clinical Trial The trial is underway at three sites in Australia and has enrolled 16 patients. This trial involves a skin gel for the treatment of symptoms of Fragile X syndrome in people aged 8-17 years old. Melbourne: Fragile X Alliance clinic (Dr Jonathan Cohen) Contact: Melanie van Buuren (03) 9528 1910 Brisbane:

Lady Cilento Children’s Hospital (Dr Honey Heussler) Contact: (07) 3068 1111

Sydney:

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

New Study: Experiences of Fathers of Children Diagnosed with Fragile X 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. 1-hour interview: the first part of the study involves a 1-hour interview with M Gen Counselling student, Jacintha Luermans. Jacintha is working closely with her supervisor from the GOLD Service. Jacintha has a keen interest in Fragile X syndrome, and was our student volunteer in the FXAA office in 2016. Joining the study: If you’d like to be involved with this study please contact Rosie O’Shea: rosie.oshea@sydney.edu.au or 02 99264684 Page Page 7 9


Photo Portraits

Daniel and Wendy Linnet from linnetfoto.com have offered to undertake a special personal project to help raise awareness of Fragile X.

Wendy says: “This project is important to us. Fragile X has personally touched us both. I am a carrier and I also have FXTAS. My sister has Fragile X syndrome, and has one son with FXS.

Together they will create a series of family photo portraits which will be used by Fragile X Association in our We see this as a special way we can contribute to raising publications, media coverage, social media, and website. awareness of Fragile X conditions, and to be able to make a gift of special photos to the families.” Several families have already offered to be part of the project. Photos will be taken in June and July, primarily in Perfectly timed, in the leadup to Fragile X Awareness Day Sydney, where Wendy and Daniel are based. on 22 July! About Daniel Linnet: Daniel is an internationally awarded AIPP (Australian Institute of Professional Photography) Master and is also an Official ‘Canon Master’ - one of only 14 in Australia. Daniel is primarily a Commercial and Advertising Photographer. His main area of interest is environmental portraits and he has been awarded the highest scoring environmental portrait in Australia at the Australian Professional Photography Awards. Daniel’s previous clients include the MS Australia, MasterCard, Pfizer, Castrol, Country Energy, BankWest, Top Gear and Men’s Health Magazines, to name a few with his work also appearing in numerous local and international publications. Daniel has also done pro bono work for indigenous organisations. Some of Daniel’s work can be viewed at his website: http://linnetfoto.com

. Can you spot the splash of Fragile X orange in each of the photos?

Page 8Janine’s family. Geoffrey and Petie. June 2017 Page 10


Richard’s Community Volunteering Richard Morris and his mother Karin live in Toowoomba, Queensland. Richard has been volunteering at the Toowoomba Hospice Association for 4 years. Richard is a valued member of the volunteer team – and he managed to encourage his mother Karin to volunteer 2 mornings a week as well, working on the nurses’ station reception. Richard was profiled in the Hospice’s latest newsletter in an article written by Karin: “Having been invited to a volunteer orientation morn-

The Hospice team celebrating Richard’s 50th birthday!

ing at the Hospice, I was asked if I could bring Richard, who has Fragile X syndrome and cannot stay on “Being a volunteer at the Hospice is a matter of great his own for a long time due to anxiety. Well, that was pride for Richard and has given him a sense of selfit! Richard signed up before me and I was assured

worth and belonging. I am proud of what he does

they would find something for him to do. That was

there and grateful to the wonderful staff and volun-

four years ago.

teers who provide support and encouragement to

Richard vacuums, wipes glass doors, empties rub-

him.”

bish bins and whatever else he is asked to do. His comments and behaviour may not always be con-

Richard recently accompanied Karin to the FXTAS clinic at St Vincent’s Hospital in Sydney and then called in to visit us!

ventional, but he has great empathy for the clients and families who like him as he is.

The Toowoomba Hospice is an accredited healthcare facility that provides free palliative and respite care based on mutual respect, trust and individual needs.

It recently celebrated its 14th anniversary. Its mission is to provide quality care in partnership with the community for adults with a terminal illness.

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Richard and Wendy


GPs are Key to Providing Quality Health Care and Reducing Potentially Avoidable Deaths in People with Intellectual Disability By Katrina Weir New Study

Earlier this year, the Australian media reported on a new study conducted by Professor Julian Trollor, Head, Department of Developmental Disability Neuropsychiatry and chair, Intellectual Disability Mental Health at UNSW Sydney and his colleagues that concluded 38% of deaths of adults with intellectual disability in NSW are preventable1. The media also focussed on the story of Maureen McIIquham and her daughter Michelle who died in May 2009 from meningitis after an ear infection had spread to her brain. Michelle had a mild intellectual disability which clouded her doctors’ judgment and prevented them from taking her clear signs of pain and distress seriously. Presumably with the right investigations, Michelle’s death could have been prevented. Professor Trollor’s study came about after he realised that for many adults with intellectual disability, their death is attributed to the disability itself, e.g., the genetic syndrome, not the underlying cause of death which might be respiratory failure, cancer, heart attack or like Michelle, an infection. He puts this down to a flaw in the current coding system used to record the cause of death for all people in NSW and set about reclassifying the cause of death for adults with and without intellectual disability using a revised coding system. The research team analysed 732 deaths among adults who received disability services in NSW between 2005 – 2011 and for comparison, also analysed deaths data from the Australian Bureau of Statistics.

What did they find?

The study found that adults with intellectual disability died on average 27 years earlier than other Australians, and that relatively, premature death is more frequent among young and middle-aged adults with intellectual disability. People with intellectual disability were four times as likely to die between the ages of 24 and 44 compared to the general population, and twice as likely to die in middle age 2. Additionally, for adults with intellectual disability, 38% of deaths were considered potentially avoidable, or could have been prevented with appropriate care, compared with only 17% of deaths in the comparison group. This rate of avoidable death for people with intellectual disability is more than double the rate for the general population.

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The researchers also found that among adults with intellectual disability, infections (such as pneumonia), circulatory disease and cancer, all detectable and potentially preventable conditions, were the most common potentially avoidable causes of deaths. According to Professor Trollor, this data shows that there are unacceptable and ongoing health inequalities experienced by people with intellectual disability in Australia. “Mortality data on Australians with intellectual disability was published more than a decade ago. Sadly, this study confirms that there has been a lack of substantial progress in reducing health inequalities for people with intellectual disability since then,” he explained.

Why are these inequalities happening?

It is well documented that compared with the general population, there are significant barriers for people with intellectual disability to access quality health services and unfortunately, premature death is an ongoing feature of this group. Other factors that might be contributing to the study findings include the presence of additional health conditions linked to the intellectual disability, lifestyle choices, the concurrent use of multiple medications, lack of self-advocacy and the inability for people with intellectual disability to manage their own health needs. “The ongoing and unacceptably high proportion of potentially avoidable deaths for people with intellectual disability suggests that there is scope for the implementation of additional preventative health strategies in primary care,” said Professor Trollor.

Do people with intellectual disability get the optimal benefit from primary care / GP services?

As identified in the above study, poor access to primary care for people with intellectual disability is thought to be a factor contributing to the higher rate of premature death. An additional factor is the high levels of undetected and unmanaged health issues in this population. In an attempt to understand if people with intellectual disability utilise primary care services in a different way to people without intellectual disability, Professor Trollor was part of a different research team investigating patterns of primary care utilisation, the problems identified and the ways that these problems are managed in this group3.


Based on an analysis of primary care data from 2003 – 2012, the study found that relative to the general population, for people with intellectual disability, meetings with GPs are characterised by:  More indirect encounters where the patient is not actually seen but some clinical action is taken;  More administrative rather than medically related actions;  More problems being managed which often don’t marry with the medical conditions known to be most common in people with intellectual disability;  Under-management of common health problems, particularly depression and hypertension;  Fewer referrals to specialists and emergency departments and more referrals to allied health, and  Fewer prescribed medications or advice to take overthe-counter medications.

It also includes list of common physical, psychological and other signs that are often associated with specific syndromes such as Fragile X syndrome or Prader-Willi as well as a health action plan that should be agreed upon by the person with intellectual disability, their carer and GP. By increasing health promotion and screening activities, and detecting previously undiagnosed conditions, used annually and as intended, it may also assist in reducing the number of potentially avoidable deaths among this group. The tool is updated on an annual basis in line with current evidence and national and international guidelines. If you would like to know more about the CHAP, how it works and how it can improve the health of people with intellectual disability, including Fragile X syndrome, please contact Wendy or Katrina at support@fragilex.org.au or call us on 1300 394 636.

Overall, the study revealed that GPs may need additional support to identify and manage common medical condiWhat are the implications for policy? tions experienced by people with intellectual disability, Professor Trollor has outlined several policy implications manage the increased time required for consultations and resulting from his recent work. He urges government to directly consult with people with an intellectual disability. focus on this population and develop strong policy positions that address the current inadequacies of services What resources are available to support GPs in and obtaining access to services. He also calls for regular reporting of the health status and outcomes for people their encounters with people with intellectual with intellectual disability; a national system for reporting disability? deaths in adults with intellectual disability; improved training for doctors; the development of coordinated care The Comprehensive Health Assessment Program, or plans for each Primary Health Network nationally and the CHAP, is designed to help minimise the barriers to development of key performance indicators and the colhealthcare for people with intellectual disability by lection of outcomes measures at the Local Health District prompting health care and screening4. level that are linked to ongoing funding and demonstrate that their health services are accessible to people with Developed at The Queensland Centre for Intellectual and intellectual disability. Developmental Disability by Professor Nick Lennox, this evidence-based tool is used around Australia by References state governments and non-government organisations, 1. Trollor J, Srasuebkul P, Xu H, et al. Cause of death and potenand in other countries. It is supported by Medicare Bene- tially avoidable deaths in Australian adults with intellectual disafits Schedule items for health assessments based on how bility using retrospective linked data. BMJ Open 2017; 7 long the assessment takes (items 701, 703, 705 and 707). (2):e013489. 2. Why people with intellectual disabilities are dying avoidable deaths. Kate Aubusson, 8 February 2017. http:// www.smh.com.au/national/health/why-people-with-intellectualdisabilities-are-dying-avoidable-deaths-20170207-gu7c8j.html. 3. Weise J, Pollack A, Britt H and Trollor J. Primary health care for people with an intellectual disability: an exploration of consulThe first part is a thorough health history and is complettations, problems identified and their management in Australia. ed by the parent, carer or person with intellectual Journal of Intellectual Disability Research 2017; doi:10.1111/ disability. This provides the necessary background for the jir.12352. GP and helps identify the person’s individual health needs. 4. Lennox N, Bain C, Rey-Conde T, et al. Effects of a compreThe second part of the questionnaire is completed by the hensive health assessment programme for Australian adults with intellectual disability: a cluster randomised trial. InternationGP. It documents a full health review and includes al Journal of Epidemiology 2007; 36:139-46. prompts for the GP such as commonly missed and/or

The CHAP is a two part questionnaire that fosters collaboration between the person with intellectual disability, their carer / supporter and the GP.

poorly managed health conditions as well as considerations for relevant health care and screening.

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Mike Tozer must be the fastest Board member on the planet! He’s gaining fabulous coverage in the press about Fragile X, and training hard. It’s an extraordinary effort and we can’t thank him enough. Support Mike by barracking for him in his next couple of running events in Sydney. Or coming along to watch him cross over the finish line. Or sharing his fundraising page out to your networks.

So what’s next for the Fast Suit Guy? And then…...a full marathon. In the suit. Sunday 17 September

Mike, his wife Helen and their team aim to raise a staggering $20,000 for FXAA! Support Mike & the team here: https:// city2surf2017.everydayhero.com/au/mike-tozer Page 14


Fundraising Get Your Friends Together!

Fragile X Awareness High Tea

Launceston, Sunday July 9, 2017 High Tea, Fashion, Raffle, Silent Auction! Buy tickets online at Eventbrite.com Many thanks to Shane Lyons , Ben’s uncle, for organising this event.

Movie Night! In Adelaide The Big Sick—rom com! Semaphore, Adelaide. 10 August 2017 Cinema booked out for FX fundraiser! Organised by Katherine Brown. Buy tickets online from trybooking.com

Each year in May, Australian Catholic University in Sydney invites us to present to Masters of Special Education and Disability Studies students about the strengths and challenges of young students with Fragile X. Many thanks to Helen Tozer for sharing stories with the students and running a simulation about Fragile X with Amanda. These sessions gave the students unique insights into the sensory issues experienced by children with Fragile X. The feedback was fabulous and ACU is keen to have Helen and Amanda back again.

Earlier this year we were fortunate to have Catherine Speechley join us as a volunteer over several weeks, a total of 35 hours, as part of the course commitment of the Master of Genetic Counselling program at University of Sydney. Catherine, with Katrina, has designed a new resource for our website - a dedicated page for Health Professionals with information and links to the most current resources on Fragile X conditions. As a former GP herself, Catherine was well placed to help us ascertain the types of information that will be particularly useful for GPs. Page 15


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! Katrina focuses on promoting FX knowledge in the medical community. Amanda is our Family Support Counsellor. Wendy manages all the administrative aspects of running FXAA including arranging our events, answering our Help Line, our newsletter, and social media.

Membership renewals

Waiting for winter!

Comprehensive Health Assessment Program

Renew over the phone or by funds transfer

If you would like to know more about the CHAP, how it works and how it can be used improve the health of people with intellectual disability, including Fragile X syndrome, please contact Wendy or Katrina.

FXAA is a member-based organisation, as you know. If your membership is due for renewal for the new financial year, you will have received an email or a letter in the post. Membership fees remain: $25 for 1 year, or $45 for 2 years. Two easy ways to renew: 1. Call us: 1300 394 636 2. Make a direct funds transfer BSB: 062 295 Acct: 28022799 Acct name: Fragile X Assoc of Aust

support@fragilex.org.au or call us on 1300 394 636.

Tax-Deductible Donations Support Fragile X Association of Australia Your donation will help us to continue the support services Donation options: we provide to families impacted by Fragile X, and to increase monthly donations, one-off donations, using your workplace awareness of Fragile X conditions in the medical community. giving program, bequests. We provide: Helpline 5 days per week, family support counselling, facilitation of clinics, and resources and information through our website and workshops. We don’t receive government funding and rely entirely on membership subscriptions, donations, fundraising and grants.

To donate: * www.givenow.com * Call us on 1300 394 636

We’re proud to display on our website the Registered Charity Tick introduced by the Australian Charities and Not-for-profits Commission to denote charities which are registered with the ACNC. Page 16


Photo Gallery

Tracey Stackhouse

Visitors!

Claire, Harry and Tommy

May MacKenzie

Great to have visitors in our office! And terrific to catch up with Tracy Stackhouse, legendary occupational therapist from Developmental FX, when she was in Sydney in April.

James & Graham Hook

Mary and Howard Jones with Katrina

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NDIS Launches in Queensland

The NDIS launched in the Ipswich, Queensland area on the 30th of May with a two day expo. Shelley McRae was invited to be a speaker at the event, talking about her families’ journey and hopes and fears for NDIS. Everyone loved her speech and it was a huge success! So much so, that she has since been invited to other events with executives at the state level to discuss her concerns. In her speech she introduced everyone to her Fragile X family. Her 3 children, Rohan with ASD, typical Freya and full mutation Bryn. Her sister’s family with 2 full mutation and 1 typical child. And herself, her sister and her mother as carriers. Shelley talked about the difficult journey so far, coming to terms with the diagnosis, navigating disability services and caring for special needs kids. Her honesty and emotion captured everyone’s hearts. Shelley and her family have now become the first family to switch over to the NDIS in the Ipswich area. Her NDIS experience so far has been a positive and supported one. If you or your family need assistance with the NDIS in Queensland contact Shelley on mcraeorama@gmail.com

Selection of slides from Shelley’s presentation Page Page 13 18


Speech and Language Workshop

Save the date:

Friday September 29th, in Sydney

Marcia Williamsz is a speech pathologist who has been part of the Child Development Unit at Westmead Children’s Hospital for a number of years. Marcia was also part of the team who ran the Fragile X clinics at Westmead, along with Dr Natalie Silove. Marcia will run a dedicated workshop for us on speech and language characteristics in Fragile X, and strategies that work. The workshop will be of interest to parents of young children with Fragile X syndrome. Stay tuned for more information, including full program and venue.

Information Resources Online

On our youtube channel

Online publications Website:

https://issuu.com/

Search for: Fragile X�

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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. From top left to right: Graham Hook (President , from QLD), Lisa Ryan (Secretary, from VIC), Nyleta McRae If you’re interested in joining our (Secretary, fromdirectors, QLD), Nadene Leeto(Director, Board of volunteer we’d love hear fromfrom you.NSW), Mike Tozer (Director, from NSW), Cathy Love (Director, Contact RobynKatherine Iredale orBrown Wendy(Director, Bruce: 1300 394SA). 636 or wendy@fragilex.org.au from VIC), from

One position is vacant due to the recent retirement of Judith Lenart, who served on the Board from 2015.

DIARY DATES June Membership renewals due

July Fragile X Awareness Day Saturday 22nd July

September 29th Language & communications workshop with Marcia Williamsz —Sydney

November Fragile X Information day Brisbane, 1 November Fragile X Information day Hobart, 3 November Annual General Meeting

Sydney, 26 November Page 20

Fragile X Australia Newsletter June 2017  

Stories: Passion for Sport; FX Awareness Day in July; Workshops with Dr Marcia Braden & Dr Jonathan Cohen; GPs key to providing quality heal...

Fragile X Australia Newsletter June 2017  

Stories: Passion for Sport; FX Awareness Day in July; Workshops with Dr Marcia Braden & Dr Jonathan Cohen; GPs key to providing quality heal...