Spring 2013 Newsletter

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fx info www.fragilex.org.au https://www.facebook.com/fxAus

Spring 2013

1300 394 636 (free call) or (02) 9977 0074 support@fragilex.org.au

Christmas Cards Now on Sale! Congratulations to the Christmas Card Design winners!

Miriam Kelleher aged 7 is from Melbourne Luciana Romanski aged 8 is from Sydney Both seen here wearing their prize-winning designs on custom-made tshirts! We’re delighted to say that the printed Christmas cards are now available for sale. How to order these beautiful cards: See the back page

Call for Nominations: Fragile X Association Achievement Award 2013 The Fragile X Association Achievement Awards celebrate perseverance and successes. They were established several years ago because it was felt that many people with Fragile X constantly struggle against many obstacles and that their perseverance and successes are not always sufficiently recognised.

The Awards are intended to provide inspiration and encouragement to the people nominated and to other families. Those nominated for the Award do not have to shine in open company – any significant individual achievement is important!

Nominate someone you know for a Fragile X Association Achievement Award Nominations open until Friday 29 November See the back page for details

Contribution to the Fragile X Association by the Estate of Miss Zena Sachs On behalf of the Fragile X Association the Board wishes to acknowledge the very significant financial contribution made to the Association by the Estate of the late Miss Zena Sachs. The Association has recently received a final contribution from the Estate, providing a total bequest of $116,000. This exceptionally generous donation has been of tremendous benefit in providing the cornerstone and foundation of the Endowment Fund, which was established to secure the future financial position of the Association. Zena Sachs, who died on 31 July 2011 aged 97, was born in Darlinghurst in 1913, the youngest child of a large family of Jewish immigrants. Miss Sachs was one of very few women to study law in the 1940s, and she was one of four admitted to the Bar in 1950. She had had no connection with intellectual disability whatsoever until the grandson of her great friend Dr Leonie Star, a former President of the Fragile X Association, was born. She then became a faithful contributor to the Association even while giving generously to the many other charities she supported. Dr Star notes that Miss Sachs “was an unassuming woman with an acute intelligence, a ready and often sharp sense of humour, an interest in knowledge of all kinds ... and whose outstanding intellect was as sharp when she died at 97 as it had been throughout her life. She was loved by many.” Robyn Iredale, President Page 1

Spring 2013

Fragile X Association of Australia

Raising Awareness / Fundraising

Congratulations to mother-daughter team Cynthia Roberts and Amy Simpson who ran to raise awareness of Fragile X and to recognise the challenges Dan faces every day. They raised over $3000! Family Story: This is from Cynthia’s fundraising page on the EveryDay Hero site I am new to running. Just a year ago if I ran to the corner I would gasp for breath and experience heart palpitations. Now I can run 5k. So why would I enter the City to Surf? The challenge to run 14k is nothing compared to the challenges my son Daniel experiences every day. Daniel has fragile X syndrome. Day to day for Dan, and our family, this means: Dan has an IQ of 50 – a mental age of 4-5......he is 18. Dan has finished school but will never work. He attends a community participation programme Monday to Friday. Dan can recite lots of lines from movies and TV programs: “Sticky tape, we have sticky tape, lots of sticky tape at our house” (Bananas in Pyjamas); “I’m so in love” (Sleeping Beauty – but recited when giving mum a hug....Thank you Mr Disney!). But Dan communicates in just single words – “juice” “toast” “Ipad” or gesturing. Dan can’t write his own name but is a whiz on the Ipad At 18 Dan will never drive a car. He can ride a bike with training wheels, but can’t use the brakes so I have to run next to him. He takes great delight in telling me “run” and peddling as fast as he can (City to Surf training, thanks to Dan) Dan has trouble concentrating, exhibits features of ADHD and suffers from epilepsy. He takes 5 different medications everyday...14 tablets in all. Dan can be overwhelmed with input. If he can’t express this, it can come out physically...hitting and biting. He sometimes has drawn blood. At 18 he still has occasional toileting accidents. His sisters have had to grow up sooner than their years would normally demand, taking on a shared parenting role. But without a doubt, Dan has made us all better people. We are more tolerant and patient. When I tell Dan I am the luckiest mum in the world, there is no greater truth. The Fragile X Association helped us so much when Dan was first diagnosed. Other parents rallied around us giving us support. They have helped lobby for families: *the carer’s payment is a mere $117 per month, but crucial for many families. Carers used to apply for this on an annual basis. Now, ADHC recognises you do not “get better” from fragile X. The carer’s supplement is for life * The National Disability Insurance Scheme, will more effectively secure Dan’s future and answer the unanswerable question. What will happen to Dan when we die? Help me thank the Fragile X Association, support their ongoing work and recognise the challenges that Dan faces every day. Page 2

Spring 2013

Fragile X Association of Australia

Fitness and Fundraising - by Candy Stingel My family’s Fragile X journey, like that of many others, has been like a roller coaster ride, but one of the most exciting parts for me personally has been the almost accidental merging of two of my passions, Fitness & Fundraising. My post-diagnosis adrenalin and shock lasted about 4 or 5 days and in that time I googled everything I could about Fragile X. I stumbled across a charity bike ride run by Bicycle Qld every September and immediately thought of a dear friend of mine who is a cycling nut. I saw that the FXAA was associated with this bike ride, and asked my friend if he would be interested in helping us raise funds for the FXAA. He seemed very interested and before we knew it, we had raised $15,000 for the FXAA and the $1,000 for his entry fee and Steven then went on to complete the week long 576km bike ride from Gayndah to Noosa. But the greatest part for me about this story is that I too managed to complete the final 30km part of the ride, along with Steven's wife (my dear high school friend of 20 years), and so began my love of cycling and fundraising. I got bored with just cycling after a while and thought I'd try my hand at mini Triathlons as this gives me more variety. Unfortunately the triathlon series I do does not raise money for charities, but when Nyleta McRae, another Brisbane FX carrier and mum organised a team for the Bridge to Brisbane this year, I was very keen to put my running skills to the test. This was a fantastic day that saw two families walking and running and raising over $2,000 for the FXAA. We, and anyone who will join us in the future, are now officially called the 'Orange Army' and Nyleta dressed us all in orange singlets with the FXAA logo, awareness ribbons, arm bands and we walked and ran with pride. We plan to make this a huge event, increasing the size of the 'Orange Army' annually. There are similar events in each state, so we encourage all to get involved, because you don't have to be that fit or sporty to walk 5 or 10km!

New Fundraising Committee for FXAA

Orange Army Conquers Bridge to Brisbane!

Nyleta's sister, Shelley McRae, also a carrier and mum to an FXS cherub and I were recently appointed as members of the Board and following our first meeting, it was clear that we shared the same passion for fundraising so it was suggested that a Fundraising Committee be set up and we volunteered to take the reins. Nyleta and Shante Sweeney from WA have joined us and we would like anyone else who is interested to contact me and we can all work together on ideas and our goal of wanting to raise not only money, but more importantly, awareness about FXS. It would be fantastic to have a person from each state on the Fundraising Committee.

There are already some fantastic ideas in the pipeline and even in progress. We have the Bicycle QLD event and Bridge to Brisbane in September, potentially a run in WA, and the OceanPaddler event in Sydney in February, organised by our President Robyn Iredale, which is an exclusively Fragile X Charity event, so that is very exciting. We plan to make a National Fundraising Calender, listing all fundraising events we can all to be a part of. You can think about organising your own event in your town or city . A few of us here in QLD are also looking into making some exclusive Fragile X Jewellery and at a range of other awareness raising items such as ID tags, re-designed T-shirts for sports events, and bumper stickers. We would like this Fundraising Committee to be inclusive and we welcome any ideas, thoughts or feedback. Please contact Candy on cozziecane@gmail.com or the Fundraising Committee via the Fragile X Association facebook page: https://www.facebook.com/groups/fxaaust/

Fundraising is an important way of supporting Fragile X Association. The Association receives no recurrent government funding and so we rely on membership fees and the generosity of members and sponsors in order to provide services and support. All donations made to Fragile X Association are tax deductible. Page 3

Spring 2013

Fragile X Association of Australia

July 22 : Fragile X Awareness Day - Thank you! Bobby Redman and the team once again organised a morning tea for Awareness Day and raised $127

Hon Andrew Powell MP “St George Cousins Simone Zaia and Sharon Rasmussen want Fragile X syndrome included in antenatal and newborn screening. The pair are carriers of the syndrome�. From St George and Sutherland Shire Leader, 22 July 2013.

Member for Glass House (Qld) was glad to wear an orange ribbon!

Christine Smyth once again sold pens at the Medical Centre, and put out a collection tin for Fragile X - raising $400.

Qantas Terminal at Sydney Airport: Tim Turpin, Simone Zaia, Sharon Rasmussen, Robyn Iredale

Elijah is 10 years old and has Fragile X. His aunt Maria runs Elijah and Co Camera Bags and she donated the proceeds from the sale of all bags in FX Awareness week. Maria also profiled Fragile X on her home page. www.elijahandco.com

Jeanie and her family in WA, including Tiana, ran a garage sale and put out collection tins, raising an amazing $960

Narelle Robertson hosted a BBQ at the Wonthaggi Lions Club and raised $250 Page 4

Shante Sweeney in Perth hosted a gold coin morning tea, raising $270

Spring 2013

Fragile X Association of Australia


Janie Roberts

The Bus of Life ..... Recently I have spoken to parents who have been saddened by the number of old friendships that seemed to have been lost along the way since they have had children with special needs. They have noticed that friends with typically developing children can often lack understanding and empathy for their situation and this can be isolating especially when maintaining connection and support is really what is needed. People with Fragile X Syndrome have also said that they are bemused, confused and upset when they reach out to others in friendship and this is misconstrued and rejected. I like to think of the metaphor ‘The Bus of Life’ when it comes to relationships. In this I am the driver of my own bus of life and I choose who comes aboard, who sits where and for how long. We often feel that we should stay friends with people because we don’t want to be unpopular or hurt other people’s feelings. We will often put up with friends or family who make us feel unworthy, not good enough, anxious, frustrated or angry and often we feel that we are stuck in these relationships. Sometimes we can make the choice to put up with the unpleasant feelings this person evokes in us and have them on our bus (maybe on the back seat!) but sometimes we may decide that this person has such a bad effect on us that we may give them a day pass and then refrain from issuing any more tickets if they misbehave! Playing around with this metaphor can give a sense of freedom of choice in relationships and encourages awareness of who, in your life, has qualities that enhance and support you as a human being. Being able to imagine having loved ones sitting up in the front with you can also provide a buffer of support against those relegated to the back. If you were to draw your ‘Bus of Life’ who would you have on board and where would they sit? How is it to be the driver and how different from ‘real life’ is it? If you feel like a chat and are willing to let me onboard for a few minutes then please call me.

Janie Roberts has worked with Fragile X Association as our Counsellor for several years. She has a postgraduate diploma in counselling and psychotherapy and is currently completing her Master’s degree. Janie is a clinical member of Counsellors and Psychotherapists Association of New South Wales Inc (CAPA) and Psychotherapy and Counselling Federation of Australia (PACFA). Prior to training as a counsellor Janie worked for over 10 years with adults and children with special needs in day centres and schools. Janie encourages families, couples, siblings, and individuals to contact her for face to face support (in the Sydney area) or phone-based counselling support. Counselling offers empathetic listening, a non-judgemental attitude, a safe place to vent, and an opportunity to consider new insights and perspectives. Janie has experience with counselling in areas of anxiety, depression, isolation, grief and loss, finding balance, feelings of guilt, maintaining hope, relinquishing care, domestic violence and trauma, and changes in relationships. The counselling is free and confidential. Janie is in the office 3 days a week: Mondays, Tuesdays, Thursdays Contact Janie: 02 9977 0074 Page 5


1300 FX INFO



Spring 2013

Fragile X Association of Australia

Our Photo Gallery - Workshops in Adelaide, Brisbane & Sydney

Adelaide: Tim Turpin (FXAA), Louise Christie, Professor Randi Hagerrman, Professor Paul Hagerman, Robyn Iredale (FXAA), Dr Jonathan Cohen (Fragile X Alliance), Michael Cohen


Andrew with Randi Hagerman

Louise Gane

Sydney: Marcia Williamsz and Michelle Wong

Brisbane: Astra King (Fragile X Alliance), Janie & Joan (FXAA)

Brisbane: Robyn with Graham Hood, former FXAA President Brisbane: Candy Stingel & Shelley McRae

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Brisbane: Narelle & Janie

Spring 2013

Fragile X Association of Australia

Fragile X Workshops in Adelaide, Brisbane and Sydney The Fragile X Family & Community Days held in the 3 cities in September were very successful and well-attended. The keynote speakers at each workshop were Professor Randi Hagerman, Professor Paul Hagerman and Ms Louise Gane from the M.I.N.D. Institute in the US. At each workshop Randi provided an Overview of Fragile X Syndrome and spoke about the US Approach to Management of FXS, and Paul spoke about the Latest Research on FXTAS, and Interventions for FXS and FXTAS. Louise spoke about genetic counselling and issues related to the diagnosis and management of Fragile X across families. In Adelaide around 90 people attended the Workshop, held at the Adelaide Zoo. The audience was a mix of families, health professionals and educators. Professor Josef Gecz from the Women’s & Children’s Hospital opened the workshop. Louise Christie from the NSW Genetics of Learning Disability spoke about Newborn Screening Trials in Australia. Professor Sylvia Metcalfe presented on a Study on Decision Making Around Carrier Screening for FXS. Marta Arpone spoke about Fragile X Screening and Research at the Victorian Clinical Genetics Services. Dr Jan Liebelt, from the SA Clinical Genetics Service, spoke on Reproductive Options for Fragile X Families in South Australia. Dr Jonathan Cohen provided an overview of the Australian Approach to Fragile X Syndrome; and Michael Cohen provided “A Young Adult’s Perspective” on FXS. The Workshop concluded with an open discussion. The Brisbane Workshop was held at the Queensland Cricketer’s Club. Around 85 people attended. The workshop began with key note presentations by Randi, Paul and Louise. Astra King, from the Fragile X Alliance, then spoke on Behavioural Issues— The 4 A’s: Arousal, Anxiety, Attention and Autism. Dr Greg O’Brien, Senior Staff Psychiatrist with Queensland Disability Services, spoke on Adult FXS Issues. Janie Roberts, together with Miss Narelle Roberston, spoke about the role of the counsellor and the counselling service provided by the Fragile X Association. Candy Stingel and Shelley McRae chaired the sessions, and the day concluded with an open Discussion Forum. The Sydney Workshop was held at the Sydney Mechanics’ School of Arts in the city. Over 100 people attended the event, again a mix of families, health professionals, educators, and disability service support providers. Following the sessions by Randi, Paul and Louise, an open Discussion Forum was chaired by Tim Turpin. Justine Elliott, from the Victorian Clinical Genetics Service, spoke about the Free FX Study—Fragile X Screening and Research at the VCGS— and the establishment of a Fragile X Database. Ron and Lynne Prince, parents of two adult children with Fragile X, spoke about their Personal Experience of Setting up Independent Living Arrangements for their children. Marcia Williamsz, Speech Pathologist from the Children’s Hospital at Westmead, presented an overview of Language Characteristics and Learning Styles of Children with FXS. Dr Michelle Wong, Clinical Psychologist from the Children’s Hospital, then presented on Supporting Behaviour and Managing Anxiety in FXS. The Board of the Fragile X Association is extremely grateful to all of the speakers who generously gave their time to share their expertise at the Workshops. In particular, the Board would like to thank Professor Randi Hagerman, Professor Paul Hagerman, and Ms Louise Gane. The notes from many of these presentations will be made available on the Fragile X Association website: www.fragilex.org.au If you have any queries about the materials from the Workshops, please get in touch with us in the office: 1300 394 636 or 02 9977 0084 or email support@fragilex.org.au

A report on the Seminar presented in Launceston on 1 November by Fragile X Alliance for Fragile X Association will be included in the next newsletter.

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Fragile X Association of Australia

Association News…. While we each work part-time, there is someone here in the office every week day. If we can help with anything please get in touch: support@fragilex.org.au Janie




The Fragile X Association Annual General Meeting was held on Saturday 7 September. At the meeting several Board members retired and a new Board was elected for 2013-2014. President John O’Connor thanked the Board members and acknowledged their effort and commitment to the Association over the past year. In particular he thanked retiring Board members John Kelleher, Will Delaat, Dr Mike Field, and Dr Honey Heussler, and he thanked Doug Rodgers for his extensive commitment to the Association over many years. (President’s report in full at: www.fragilex.org.au)

Life Membership of the Fragile X Association of Australia was awarded to

John and Christine Kelleher in appreciation of the extensive and longstanding contribution they have made over very many years.

The 2013-2014 Board of the Fragile X Association:

Robyn Iredale President (NSW)

Bruce Donald Treasurer (NSW)

Cathy Love (VIC)

Tim Turpin Secretary (NSW)

Jeremy Sweeney (WA)

Simone Zaia (NSW)

Shelley McRae (QLD)

Kim Cornish (VIC)

Candy Stingel (QLD)

Brief bios of each of the Board members are at www.fragilex.org.au

State News: Family Get Togethers Victoria: in Melbourne a regular get together for parents on the 15th of each month. For details contact Bronwyn on 0407 206 459 or by email: bronwyn@kelse.net NSW: in Sydney a pizza and fishing day for families at the home of Robyn, Tim & Marty on Scotland Island on Sunday 8 December, from 10:30. See www.fragilex.org.au for details or contact the FXAA office. Page 8

Spring 2013

Fragile X Association of Australia

Association News…. Report from the President It is my great pleasure to write my first report to you as President of the FXAA. I took over from John O’Connor in September this year and I would like to thank him for all his efforts over the previous 12 months. John gave very generously of his time and ideas to the Association and for that we are very grateful. I would like to welcome new and returning members to the Board. Kim, Tim, Simone are returning members and I thank them for their continued willingness to contribute their knowledge and expertise. We have five new members: Bruce (who returns to the Board); Candice; Shelley; Cathy; Jeremy. They bring excellent skills in the legal area, fundraising, therapies and community liaison. They will also being vital input from the various states and we look forward to the organization working as a truly national body. I hope you will all get more involved in your state-based groups, facebook pages and activities. It has been an extremely busy time over the last two months. We conducted workshops in Adelaide, Brisbane and Sydney in September and it was lovely to meet many of you there. Randi and Paul Hagerman and Louise Gane gave us the benefit of their expertise and many other speakers provided new and interesting information. The clinics, provided by Randi and Louise, were invaluable for many families and I hope that adequate follow-up can be arranged with doctors and others here. In October a separate Adult FX Clinic was run in Sydney by Dr Jane Law. A FXS Workshop and Clinic in Launceston was presented by Dr Jonathan Cohen and the Fragile X Alliance team at the end of October. We are very grateful to the Tasmanian Community Fund for sponsoring the Launceston Workshop & Clinic. I represented the Association at the Opening of the 16th International Workshop on Fragile X and Other Early Onset Cognitive Disorders in the Barossa Valley on the 17th September. This workshop brought together around 80 researchers from Australia and overseas and it demonstrated the amount of research that is currently underway in FXS. I’m also delighted to announce that we are calling for nominations for the Fragile X Association Achievement Award for 2013. The Board is now getting down to the serious business of how to garner more funds. With little to no government support we constantly need to be looking for new sources of funds, as well as continue our relationships with those who have supported us in the past. Your ideas and support will be very welcome. I look forward to the coming period and to working with the Board and office team in a very positive and constructive way. Sincerely, Robyn Iredale

Fragile X Abroad We enjoyed a surprise visit one sunny July day by Kristen Mulcock from the Fragile X Association in Switzerland, Le Cristal. Kristen, her husband Jason, and Jamie (12), Linus (7) and Liv (4) were on holiday in Sydney and called in to our office in Manly to hear about the Fragile X scene in Australia.

Fragile X on Sydney Harbour OceanPaddler from North Manly nominates Fragile X Association as charity partner for the Manly Wharf Bridge to Beach race. This is one of Australia’s largest open water paddling events and is regarded as one of the most spectacular in the world. Participants line up directly underneath the Sydney Harbour Bridge, paddle past the Opera House and make their way to Manly Wharf.

And On the Road Again... Ricky Crowe, a generous supporter of the Association, regularly takes the word about Fragile X on the road around NSW.

Oceanpaddler has over 30 categories in the race and will be encouraging all participants to raise funds for FXAA. We’re looking for Fragile X supporters to take up paddles, or to sponsor paddlers! www.oceanpaddler.com/events/bridge-to-beach Page 9

Spring 2013

Fragile X Association of Australia

Research Studies Monash University: Future Studies on Fragile X Carriers: Calling for Expressions of Interest Australian research for families who carry the fragile X gene. To help families, health professionals and educators understand how being a carrier of fragile X impacts on Australian families. For many years, individuals who carried the Fragile X gene (carriers) were assumed to be completely unaffected by any challenges facing individuals who had Fragile X Syndrome. In recent years a number of overseas studies of families suggest that the carriers may have subtle profiles of strengths and challenges that include very good visual and verbal skills but difficulties in decision making and short term memory skills. However, these studies were only conducted in male carriers and we do not know whether women who carry the Fragile X gene display a similar profile. We also do not know if there exists different profiles in women who carry the Fragile X gene and have a child/ children with Fragile X Syndrome compared to women who carry the gene but do not have a child with Fragile X Syndrome.

 In Australia we estimate that hundreds of families will have a member who is a carrier of Fragile X.  It is vital that we gather as much knowledge as possible about being a Fragile X carrier across the lifespan so we can inform all families about what to expect and how best to intervene

 Understanding how motor skills, language skills, decision making skills and your well-being changes with age will provide invaluable information that will help future generations. If you are a carrier of Fragile X Syndrome and would like to register your interest in participation in future research, please contact Claudine: .

Claudine Kraan Monash University School of Psychology & Psychiatry (02) 9902 4162 claudine.kraan@monash.edu

Developing New Tests for Fragile X: Aiming to Improve Outcomes for Children and Their Families Through Earlier Diagnosis If you have a family history of Fragile X related disorders, or if you are the parent of a child with the Fragile X premutation or full mutation, or yourself have been tested and identified to have one of these results, you and your family members are invited to participate in the FREE FX study. The study is being conducted at The Murdoch Childrens Research Institute in Melbourne (based at The Royal Children’s Hospital). It involves taking a blood sample for some genetic testing and conducting an assessment of your and/or your child’s behaviour, thinking and memory skills, which will involve for example being asked to solve puzzles and remember lists. The assessment will take approximately 3 hours. If people from states other than Victoria happen to be in Melbourne they are welcome to be involved in the study. This research will help us to have a better understanding of the problems that are caused by medium and large expansions in the FMR1 gene and may help to develop better treatments and early intervention programs in the future. Depending on the outcomes of the assessments we do for you and/or your child we may be able to discuss with you any potential referral for specific intervention programs in the future. Also, if you choose to, we can provide you with the results of your genetic and psychological testing. (www.fragilex.org.au has more detail about the study)

If you would like more information about the project or if you need to speak to a member of the research team please contact Justine

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Justine Elliott (or Alison Archibald) Research Genetic Counsellors Murdoch Childrens Research Institute (03) 9936 6047 Justine.elliott@mcri.edu.au Fragile X Association of Australia

Research Studies Monash University: Study of Eye Movements and Attention to Gaze in Fragile X Syndrome and Autism Spectrum Disorder Monash University in Melbourne is looking for male volunteers aged 12-30+ diagnosed with Fragile X Syndrome to participate in a study that will investigate the way the brain controls eye movements and attention to gaze in people Fragile X Syndrome and Autism, and how autistic traits modulate the responses in these groups. The study of eye movements performed during specific tasks will shed some light on the way people with these conditions visually explore their environment and respond to social visual cues. We will also investigate how other factors, such as decision making, spatial memory or attention, affect these eye movements. Participation involves attending one 3-hour session at our brand-new lab located in the Monash Biomedical Imaging building, 770 Blackburn Rd, Clayton, in Melbourne. Participants will receive two movie tickets in appreciation of their time. For more information about this project, please contact Esther Ginsberg: (03) 9905 3947 or email Esther.Ginsberg@monash.edu

Fragile X: The Iceberg of Genetic Disability Bruce Donald, the Treasurer of the FXAA, recently presented a segment on the ABC’s Radio National Science Show highlighting the impact of FXS on families and the importance of the research being undertaken in the science community in providing better and more available testing. Here’s an extract: “September was a very important month for Australian genetic disorder science and also for the potentially enormous value that science offers for families struggling with genetic disability. Much of the activity was about Fragile X Syndrome... Like thousands of other Australian families I am only too familiar with Fragile X Syndrome, the world’s leading cause of inherited intellectual disability and the leading known genetic cause of autism. Fragile X has impacted on our extended family both here and in the UK over three generations. Think of a footy finals crowd of 80,000 people; that’s about the number of Australian families carrying this genetic condition that may cause serious lifelong intellectual disability in their children. Every week in Australia one child is born who is fully affected by Fragile X Syndrome and 20 children are born who are carriers with the potential to pass the disorder to later generations. One in every 170 women and one in 800 men are estimated to be Fragile X carriers. It’s an iceberg of genetic disability. And usually families are completely unaware of it until a child is born with puzzling behavioural and developmental conditions. That was certainly the case for my family and is also the case for so many others I meet through the Fragile X Association of Australia. Why is all this science so crucial? Well as a parent who struggled for over a decade without an explanation of what was causing the exhausting daily issues in my family, I have become dedicated to doing whatever I can to let people know as soon as possible with a newborn just what they are dealing with so they can avoid the floundering around and untargeted approach we had to endure. Early intervention is universally acknowledged as the very best way for all disability.” Podcast of the full segment is on the Science Show site: http://www.abc.net.au/radionational/programs/scienceshow/fragile-x3a-the-iceberg-of-genetic-disability/5017452

The written transcript is available at www.fragilex.org.au Page 11

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Fragile X Association of Australia

Family Stories

Our Personal Experience in Setting up Independent Living Arrangements This is an edited extract of the presentation given by Ron & Lynne Prince at the Fragile X Workshop in Sydney in September. For the full article, see www.fragilex.org.au We are Ron & Lynne and, along with our adult children, Dave 32 and Belinda 30, we are generally known as The Princes. We are a Fragile X family, living in Newcastle. We would like to share with you some of the experiences in the last 5 years, in setting up independent living arrangements for Belinda & Dave. Our story is based on our experiences and the way Self Managed Packages have assisted them both.

We realise everyone is different, everyone has their own needs, wants, their own circumstances, and particularly their own goals and aspirations. Goals and aspirations are important!!!! Self Managed Packages may appear to some people to be too hard to manage and may not be for everyone……but we feel they give the flexibility to better meet the needs of people and provide more choices and control. Whether the choice is one of totally self managing everything, or the other to have a service provider manage the package for you. Or somewhere in between… is all about what you are comfortable with!!!! Belinda and Dave are affected by Fragile X. Belinda is in the moderate to mild range of intellectual disability, Dave is moderately affected. They both work in supported employment , Dave works 3 days per week as a groundsman at Newcastle Uni. Belinda works 3.5 days a week in a Therapeutic Packaging business. Dave & Belinda have been living away from home for approximately 4.5 years. They moved out of the family home on Boxing Day 2008 and into their own home which they share. This was a big step for both of them and there was a few anxious moments for them as well as Mum & Dad!!. Up until June 2012 they had been supported in their independent living in their own home predominately by us, Mum & Dad. With some 6 hours per week of support from a traditional service provider coming in September 2011. To assist Belinda with weekly grocery shopping and Dave with a Sunday outing. Although the support was appreciated by Belinda & Dave, the inconsistency of the traditional service support was an issue for Belinda and David. We recognised that the service fell short of the assistance they needed to allow their independent living to be sustainable in their own home. Mum & Dad had to continue with the majority of support. In June 2012 both Belinda and Dave were successful in receiving their own individual self managed packages through the Supported Living Fund (SLF). The SLF was the first Self Managed Package we had been involved with so the concept was very new to us. We found the completion of the applications for the SLF to be challenging. However in saying it was challenging, the completion of the applications made us think more outside the square, about how David & Belinda could best plan and have more choices and control, more than previously offered through the traditional service provider model. After 12 months into the SLF, Belinda & Dave have been able to make choices that have made a real positive impact on their independent living arrangements. The choices creating the most impact were being, able to choose a Service Provider to administer the fund, choice on how the funds could be used to meet their individual goals and aspirations, choice on staff roles to assist them and choice on the type of people and recruitment of staff they wanted to assist them. They have a Home Assistant who they share. To assist them with their domestic duties, assist with menu preparation, prepare the weekly activity schedule, assist with weekly shopping and provide “drop In” and “touch base” support . Dave & Belinda each have their own Lifestyle Assistant Lifestyle Assistants are working on making community connections and finding pathways into community groups that will allow both Belinda and Dave roles in the community groups. The establishment of the roles in the community groups is an important part in growing Belinda’s & David’s circle of support and making their independent living sustainable. With the assistance of his Lifestyle Assistant Dave is now volunteering at Riding for The Disabled. As he loves working with tools and helping out with projects he has also joined a wood working group and is waiting on joining a “Mens Shed”. He is passionate about his fishing and has also joined a fishing club. Dave’s catch!

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Fragile X Association of Australia

Family Stories continued.. Belinda is working with her Lifestyle Assistant on keeping fit and getting her “Learners” driving licence. As she is a keen competitive swimmer and has her Austswim Water Safety Certificate she has been volunteering, assisting her own Swim Coach to teach young children with disabilities, water confidence and learn to swim. Belinda’s Lifestyle Assistant and a member of her circle of support is also assisting her get her Bronze Medallion at the local surf club. Belinda’s plan is to gain more qualifications to allow her to do more volunteer or paid work as a swim instructor assistant and also build her community connections through the Surf Club. With the introduction of the National Disability Insurance Scheme (NDIS) and being residents in Newcastle LGA, Belinda and Dave were one of the first to transition from the SLF to the NDIS. With some minor suggestions & enhancements from the NDIS Planners they have been able to take their goals and plans they had developed under SLF to NDIS. Their 12 month plans and budgets have now been created in the NDIS system Looking back over the last 14 months of having the SLF and now through the potential of the NDIS we can see the choice and control offered through a self managed package has significantly improved both Belinda and Dave’s lives. Our view is they are better enjoying their independent living, they are more settled than when they were receiving support from the traditional service provider model and are not as reliant on us, Mum & Dad. When we look back over the last 6 months we think that having a clear picture of their goals and what they want to achieve has been the key for Dave & Belinda. Belinda & Dave had Belinda’s goal chart preliminary plans for both Dave and Belinda prepared and submitted as part of the application for the SLF packages. These plans were further refined and were well documented and as parents we understood them, and we had revisited and discussed them with Belinda and Dave on numerous times, but we were not sure if Belinda or Dave could really grasp the concepts of plans and goals. We think they were only words for Belinda & Dave! As both Dave and Belinda were struggling with the meaning of the words and the concepts, our Service Provider suggested that both Belinda and David may better understand and each benefit from having their own Person Centred Planning Session. The idea of the session is to encourage Dave & Belinda to put forward in a simple diagrammatic way their own ideas, what they want to achieve over the next 12 months and to see their goals more easily. The planning session was facilitated by a person with Person Centred Planning experience, and having the ability to ask the right questions in the right way. We also invited to the session Belinda & Dave’s paid Assistants and the people invited to join their Circle of Support. At the planning session Dave and Belinda using simple diagrams, sketches and pictures came forward with their own ideas on what they would like to do and achieve, and from that point onwards everyone got involved, offered ideas, took on some action, responsibility and ownership to assist Belinda & Dave to achieve their goals for the next 12 months. Belinda and Dave now have a plan in simple drawing style that hangs on a wall in their home that reminds them of that planning day and of their goals for the next 12 months. The process is called a PATH and it was a really worthwhile exercise for us!!! They say a picture paints 1000 words!!! The Person Centred Planning session was completed prior to meeting with NDIS Planners and having the plan allowed Belinda and Dave something to talk about with their NDIS Planners, about their dreams & goals. Page 13

Spring 2013

Fragile X Association of Australia

Family Stories continued The NDIS is still a “Work in Progress” in the Newcastle launch site and in some ways “It’s like building a plane while you fly it”. But we are very patient and are prepared to work with NDIS to make the scheme work. We are talking with the NDIS Planners and IT staff on suggestions and ways we think may improve the system, especially for people with an intellectual disability. We think the transition for Belinda and Dave into NDIS has been made easier with the experience of having a self managed package and knowing what they want out of life. Although, we are still working with NDIS through some issues, we are cautiously confident the new scheme will meet Belinda & Dave’s needs and will benefit others as well. After 14 months of having self managed funding we can see the positive difference that CHOICES and CONTROL has made on Belinda & Dave’s lives. As parents we feel very comfortable and confident about the future for both Belinda & David. Our words of advice: Start thinking about goals, aspirations and what a good life may look like for yourself or for the person you may be caring for, write the goals down, or use a drawing, photograph or picture to represent them, keep them handy, read or look at them often. It’s never too early or too late to start planning for a good life!!!

Time and Patience Always Prevail

By Marg Butler

Just a quick positive story on the transition of moving to a large town after life on a sheep station and small country town, living with Fragile X Syndrome. Toby Butler, aged 24 years, is the son of Marg and John Butler, formerly of ‘The Vale’ Hatfield via Balranald. Toby was born with Fragile X Syndrome and has an older brother with the same diagnosis. I really just wanted to convey to all interested that the transition for Toby has been overwhelming and, surprisingly, quite exciting for us all. Toby works for Kalianna Enterprises which is connected to the Twin City Laundry in North Albury. Toby works five days per week for six hours per day. A bus picks him up and drops him home each day. Since moving here in 2011 Toby has enjoyed so many different activities with this group of friends and work colleagues. They have had swimming tournaments, bowling competitions, many out and about days, as well as travelling to Melbourne for a couple of AFL football matches. We set up a second home in Balranald for seven years while Toby and his siblings attended Balranald Central School. Toby K-6 in town, then 7-12 Life Skills back home at `The Vale’ with mum as tutor. Toby gained his certificate at the end of 2007. Toby and mum then moved to Balranald again so that he could complete his Transition to Work. At the time this is all taking place one never knows what lies ahead. Well here we are living in Albury and loving it. Toby’s sister and his nephew live nearby. Toby is working and enjoying his lifestyle, dad is working and mum, thanks to all those days as a tutor and a Certificate in Disability, has casual work as a SLSO (teacher aide). We are so proud of Toby’s achievements so far. Quote from Mary MacKillop: “Let no obstacle deter us from proceeding with courage.” (First published in the journal Pedals, from Page 14

the Isolated Children's Parents' Association Of Australia, October 2013. Reproduced with permission)

Spring 2013

Fragile X Association of Australia

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Spring 2013

Fragile X Association of Australia

To order:

See order form at www.fragilex.org.au OR Call FXAA office 1300 394 636 / 02 9977 0074

E-cards with the same designs will be available from 21 November. Fro details see www.fragilex.org.au

Call for Nominations: Fragile X Association Achievement Award 2013 The Fragile X Association Achievement Awards celebrate perseverance and successes. Any significant personal achievement is important and would be worthy of nomination. Previous nominees for the Award include: Andrew for successfully mastering the challenge of attending an interstate scout Jamboree on his own Duncan in recognition of his success in travel training Patrick for transitioning so well into a mainstream school Emma for obtaining her driver’s license and sourcing work independently Marty for mastering the art of Tae Ki Do.

Nominate someone you know for a Fragile X Association Achievement Award All you need to do is send in : * a written description of the person’s achievement (up to 250 words) AND * a photo of the person nominated Email to: wendy@fragilex.org.au OR Post to: Fragile X Association, PO Box 109, Manly NSW 1655

Entries close Friday 29 November. The winner will be announced in the next newsletter Page 16

Spring 2013

Fragile X Association of Australia

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