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FX INFO DECEMBER 2015

1300 394 636 (free call)

In this edition:

The latest on raising awareness of Fragile X in the medical community

Getting ready for the NDIS

Fragile X Association position on Diagnosis and Screening for Fragile X syndrome and Fragile X carrier status

Achievement awards 2015

New videos! From the Workshops with Dr Randi Hagerman

Congratulations! to Harrison, Isaac, Laura and Alex

Sensory Santa is everywhere this Christmas!

We made this video as part of a Social Inclusion programme of the bank BNP Paribas to profile the challenges faced by people with Fragile X in securing work in the open employment market. It features Zoe Friend, Rosie Donald, Marty Campbell, Hugh Rodgers, Ross Mackenzie. The video has been shared on social media by several organisations in the disability sector, including The Attitude Foundation, which described it as a “must see�. Page 1

December 2015

Fragile X Association of Australia


From the President Dear Members and Friends, What a year we have had! It has been packed with activities across the different states and has seen us connect with a lot more organisations and families, and the wider Fragile X community. Our campaign to raise awareness of Fragile X in the medical community and the visits by Dr Marcia Braden and Professors Randi and Paul Hagerman contributed greatly to raising the profile of Fragile X. Families were also able to tap into the expertise of these people via individual clinics and I hope that these were all worthwhile. We are very grateful to the supporting organisations who made this possible: ICAP Charity Day, Royal Bank of Canada, and Neuren. Our organisation’s position on Diagnosis and Screening for FX document was posted on our website in October. This document clearly outlines our position in relation to diagnosis and screening at the pre-pregnancy, early pregnancy and newborn stages, and the importance of testing for Fragile X. A copy of the statement is included in this newsletter Another initiative this year has been the new video profiling Employment Inclusion. Five of our young adult members featured in this and they have highlighted the problems that they face in finding open employment. We hope that the video will be a good tool to use with Disability Employment Service providers, government and other NGOs to foster the workforce opportunities available to people with Fragile X. I would like to express my thanks to everyone who has contributed so much of their time and energy to help raise funds, spread the word about FX and support other families. Your support and commitment is critical to what we can achieve. I know it is may seem never ending, but together we are much better able to make change and help each other. Congratulations to the four people who received Achievement Awards and to Narelle Robertson who has received Honorary Membership for her ongoing contribution to our work. These Awards were given at our Annual General Meeting last month, and I’d like to commend Alex, Isaac, Laura, Harrison and Narelle on their commitment. We have had a hard working Board this past year. I wish to thank all the Board members for their dedication and contribution to FX. Some of us are part of FX families (Robyn, Bruce Donald, Tim Turpin, Jeremy Sweeney, Nyleta McRae) while others are not (Judith Lenart, Cathy Love, Pam Montgomery) but all give their time and expertise to help us achieve our goals. I am sorry to see Tim and Jeremy move off the Board for this coming this year but our constitution provides for rotation on a regular basis to ensure the Board is refreshed. Our (small) team in the office has had a very hectic year and I acknowledge their commitment to their work. Thanks to Wendy Bruce, our counsellor Janie Roberts, Liz Russell our accountant, and to Katrina Weir who continues to make significant inroads into the medical and allied health communities with the medical community awareness campaign. Thanks to all those who have participated in many of the initiatives that Katrina has arranged. I’d also like to congratulate Helen and Mike Tozer in Hong Kong, who have just this month launched Fragile X Hong Kong. Helen and Mike are originally from Sydney, and this is a fantastic achievement. It is with great sadness that we learned of the recent passing of Naomi Star, former President and long-term supporter of Fragile X organisations in Australia and in the US. I commend to you the tribute to Naomi on page 4, written by members of our Association. I do hope that you all have a very happy holiday season and that the New Year brings more progress on the many aspects associated with FX. My thoughts are with those who have had sadness and ill health this year and I hope that the year ahead brings healing and happiness. Warm regards, Robyn

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December 2015

Fragile X Association of Australia


our supporters We’d like to thank everyone who has helped make this year so eventful! So many people have helped in so many ways - giving presentations at workshops and conferences, helping us to prepare materials for workshops, arranging venues for our events, providing us with locations for assessment clinics, setting up the Fragile X information stalls at the Healthed and other conferences, talking to doctors and other health professionals about Fragile X, being concierge at our AGM, helping prepare for our newsletter and membership mailouts, designing our Understanding Fragile X brochure and our awareness posters, reviewing our publications, editing our videos, taking part in fundraising events, organising support group lunches and events, designing Fragile X tshirt logos, helping us to raise awareness of Fragile X, sharing family stories in our newsletter. And more!

So, our thanks to: Leigh Riddell, the Cunningham family, Dr Jonathan Cohen, Astra King, Bev Kadish, Michael Cohen, Cathy Love, Maria & Luke Goss, the team at Fragile X Alliance, Dr David Ravine, Mary Butterworth from Developmental Disability WA, Jane Barker from Kids Are Kids, May Mackenzie, Lynn and Rod and Holly Brown, Candy Stingel, Graham Hook, Sue Smith, Mary Tuck, Helen Harrison, Dr Honey Heussler, Professor Stuart Einfeld, Dr Jane Tracey, Dr John Wray, Dr Chris Barnett, Dr Natalie Silove, Dr David Godler and his team at MCRI, Dr Claudine Kraan, Dr Rachael Birch, Bronwyn Kelleher & Janelle Hudson of the Vic support group, Shante Sweeney, David Bassingthwaighte, Martin Davey, Marion Pascoe, Tracey Learmont, Thibault Upton, Chantelle from Manly Chamber of Commerce, the team at Oceanpaddler in Manly, Jessica Ratcliff & her friend Spring, Luke Ratcliff, Liz Schmitt, Michelle Toth, Ricky Crowe, Graham & Trish Piper, Galston Garden Club, Jean-Marcel from Vintage Cellars, Suresh Gupta from Coffee Club Mona Vale, Marty Campbell, Zoe Friend, Rosie Donald, Hugh Rodgers, Ross Mackenzie, Dr Cynthia Rodgers, Alicia Whale, Tina Cox, Katherine Brown, Stephen Baric from www.stephenbaric.com, Mayor of Manly Jean Hay, our auditor Mr Brian Johnston of Manser Tierney & Johnston, Phil Eastbury for editing all our videos, and last but by no means least, our overseas visitors for 2015 Dr Marcia Braden, Dr Randi Hagerman, and Dr Paul Hagerman.

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December 2015

Fragile X Association of Australia


Vale Naomi Star

On behalf of Fragile X Association of Australia It is with great sadness that we advise the passing of Naomi Star who was a member of the Association for many years, including membership of the management committee and then President from late 2000 until mid 2004. For the past eleven years Naomi lived in Los Angeles with her husband Chad, son James and daughter Sophia.

Naomi Star, Chad Wackerman, James and Sophia

Naomi was a warm, energetic and inspiring person. She devoted what seemed a disproportionate amount of time to Association matters while doing a full time job ensuring James’ schooling and development supports were the best that could be obtained. She was also a professional singer and in between her family and Association commitments she took as many opportunities as she could to continue singing.

Naomi’s first big contribution to the Association’s activities was in 1998 when she organised our first major conference, with leading Fragile X practitioners and researchers from overseas and Australia and extensive media coverage. Associated with this conference were clinics with the experts. These events were effectively the first the Association took in raising public and medical awareness of Fragile X in Australia. When Naomi became President, the Association was principally a parent support group with committee meetings held around Naomi’s kitchen table. There was no staff and no office. Her vision was for the Association to provide hands on services to its members and this vision was realised with the establishment of specialist Fragile X clinics for children in 2001 and subsequently for adults. This work enabled the Association to establish its “deductible gift recipient” status for tax purposes. The initial funding for the clinics came from a number of major fundraising events which Naomi was instrumental in organising. Naomi set in train the change from what the Association was in 2000 to the Association we have today. When she went to America she continued her work on behalf of Fragile X with the local Association in Southern California. The Association, and the Fragile X community in Australia, owe much to Naomi for all that she did on their behalf: families continue to be supported, clinics are available for members, Fragile X is better known in the medical and political communities. Our thoughts are with Chad, James, Sophia, Naomi’s mother Leonie and her sister Adrienne. Naomi was one of the most extraordinary women that I have ever had the good fortune to have in my life. We first became friends when we were introduced to Chad and Naomi after their son James was newly diagnosed. Our sons were similar age and we all lived in the inner west in Sydney. Out of the trials that can be fragile X developed one of my most important friendships. Naomi was tireless in her work with James, supporting his schooling and education through additional reading programs. She was unstoppable. While in her role as the President of Fragile X Association, she organised our first large fundraiser, a charity dinner at Sydney University Women’s college and provided support to other newly diagnosed families. On moving back to the USA, she became equally involved in the Fragile X Association of Southern California group. I was lucky enough to see her on a few trips back to the states, and of course, when she visited Leonie here. Everyone who met her became her friend. We shared highs and lows, rejoiced in James’s achievements, helped each other just by being there when things got tough, or with new ideas for helping our sons and delighted in the news of her pregnancy with Sophia, now a beautiful 16 year old woman. Naomi’s singing voice lives on through Sophia. She was simply the best and there are not enough words to described her beauty inside and out. The depth of our grief is a measure of how much we have truly loved and been loved. My heart is broken and I miss her dreadfully as do many others. All our love goes to Chad, James, Sophia, Leonie, Adrienne and Lia. Page 4

December 2015

Cynthia Roberts Fragile X Association of Australia


Raising Awareness of Fragile X within the Medical Community This quarter’s focus: Healthed: Since August 2015, the medical communications focus has been on the series of GP Education Days run by training organisation, HealthEd. The Fragile X Association of Australia had the opportunity to provide a speaker in each major capital city around Australia. The topic for each speaker was “What GPs need to know about Intellectual Disability” with information about Fragile X syndrome being a significant part of their presentation.

Katrina Weir

The Fragile X Association is extremely grateful to all our excellent speakers who gave up their time to prepare and deliver the presentation on our behalf. The speakers in each state were: Professor Stewart Einfeld Dr Jane Tracey Associate Professor Chris Barnett Associate Professor Honey Heussler Associate Professor John Wray

Chair of Mental Health, Faculty of Health Sciences, University of Sydney, and Senior Scientist at the Brain and Mind Research Institute, Sydney Director, Centre for Developmental Disability Health, Victoria Head, Paediatric and Reproductive Genetics Unit at the Women’s and Children’s Hospital, Adelaide Medical Director of Developmental Paediatrics, Lady Cilento Children’s Hospital, Brisbane Senior Clinical Advisor for the WA Child Development Service, Perth

We would particularly like to thank Associate Professor Honey Heussler who stepped in to fill the speaking role in Brisbane as paediatrician Dr Doug Shelton was unavailable at late notice. On top of the speaking opportunity, HealthEd also provided the Association with a display table in the exhibition hall associated with each conference. In Sydney, our executive officer, Wendy Bruce was on our table and in Melbourne, Board member and occupational therapist Cathy Love stepped up to the task. In the other states of QLD, SA and WA, we are incredibly grateful to many of our member families and supporters who volunteered to help us by being there on the day and promoting Fragile X syndrome to the conference delegates. Having the display table in each site gave GPs interested in Fragile X an opportunity to gather more information about the condition and to engage with people who have professional and personal expertise in the area. Australasian Society for Intellectual Disability (ASID) We would also like to thank psychologist and member of the Fragile X Alliance clinic team, Astra King, for submitting an abstract and in turn, presenting at the annual ASID conference held in Melbourne this month. Astra spoke on “Looking for ADHD in Fragile X syndrome: The parts that affect functioning”. The majority of conference delegates were from disability organisations with the remaining delegates being researchers, government employees and people with intellectual disability, family and carers. The Fragile X Association provided brochures for every delegate to further raise awareness of the condition and to provide a point of contact for people seeking additional information. We’ll include a summary of Astra’s presentation in the first newsletter for 2016.

Dr Jane Tracey with Cathy Love

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December 2015

Dr John Wray with Lynn, Rod and Holly Brown

Fragile X Association of Australia


Awards 2015 Honorary Membership Narelle Robertson from Victoria has been awarded Honorary Membership of the Association in recognition and appreciation of her commitment to supporting the Fragile X Association through incredible and proactive efforts in fundraising, awareness raising and education. Narelle originally wrote an article for the winter fx info 2013 newsletter where she shared how Fragile X had affected her life. She described how her confidence had recently grown and that she was more able to accept herself and be proud of her abilities. She then supported Janie in a presentation in Brisbane sharing her experiences of living with Fragile X and describing the benefits of counselling. She did a fabulous job.

Narelle Robertson and Janie Roberts

As Narelle’s confidence grew she was able to give educational presentations at her local Lions Club in Wonthaggi, Victoria. She also took an active part in their events and raised funds for the Association on a number of occasions. Indeed, Narelle was so well regarded by the members of the Lions club that she was elected on as the Treasurer for Lion’s Club Wonthaggi. In late 2014 Narelle single-handedly took it upon herself to write to over 70 Lions Clubs throughout Australia in an effort to raise financial support for the Association. Narelle’s efforts resulted in donations being made to FXAA from several Lions Clubs in Victoria and WA.

Achievement Awards - celebrating perseverance and success Thank you to everyone who submitted a nomination for an Award. After much careful thought, this year FXAA Achievement Awards were awarded to four young people: Alex Bride from Melbourne - for working hard on self improvement and independence. Alex has had a big breakthrough this year as a result of working really hard at managing his anxiety. He’s also working hard at reading and speech therapy. Alex shows that adults with Fragile X, given motivation and help, continue to learn and develop. Isaac Smith from Adelaide - for becoming a member of Zoo Youth at Adelaide Zoo, a team of diverse peers and adults. He’s been challenged on all levels and worked hard at cleaning animal enclosures, and learning a lot about caring for animals. Isaac always shows great care, empathy and passion for animals through all the work he does. Laura Bradley from Brisbane - for going above and beyond in helping her brother Luke reach his goals. Her determination to get Luke talking, and inclusion in play, has made a huge impact on Luke’s progress. Harrison Schmitt from Sydney - for showing persistence and dedication in all areas of his life, with a smile on his face! He’s worked hard and progressed well in literacy, and shows dedication to his karate 3 days per week.

Alex Page 6

Laura & Luke December 2015

Harrison Fragile X Association of Australia


Harrison: Dedication to Karate Reaps Rewards on Many Levels Harrison Schmitt, his mother Liz and sister Christa all started karate in July 2013. But Harrison, who was diagnosed with Fragile X syndrome at age five, was the only one to continue. Liz and Christa quit after two weeks! In karate, participants are graded every six months and since starting the sport, Harrison has only missed one grading. He is currently a blue senior having started on white and then rapidly progressing through the levels of orange, orange senior and blue. Harrison is now 14 years old and thrives on the routine of karate and the acceptance he receives from the other members of the class. He particularly loves his instructors and the patience that they show. His mother Liz is equally delighted with Harrison’s progress and the life skills that karate has helped him develop. “ Harrison’s motivation for starting karate was to keep up with his sister. But now that he has been doing it for more than two years, I can see that there are so many benefits. At karate, there is a culture of kindness, acceptance, patience and persistence. Aside from giving him the physical skills to deflect and defend himself, it has really helped settle his nervous energy as he feels accepted by his peers and instructors.” According to Liz, Harrison shows persistence and dedication in all aspects of his life and he understands that he needs to work hard to get what he wants. “I am extremely proud of Harrison and his ability to smile through his hardships. I am struck by his ability to strive for something and his willingness to ask for assistance to help him achieve,” she says. For these reasons, the Fragile X Association of Australia has awarded Harrison with a 2015 Achievement Award. He was nominated by his mother Liz because “every day he shows persistence and dedication in all areas of his life and he even does it with a smile on his face.” When Harrison was in primary school, Liz was told that he would never write. Harrison now writes, can spell simple words and reads to Liz every afternoon and he is keen to get his driver’s license when he is older.

“Harrison dedicates himself to karate three times a week. And for a child that just spun and spun every lesson, he has come a long way to be blue senior with the opportunity to grade to yellow belt in a few months,” she said. Sensei Steven Khoshaba, head instructor at Harrison’s karate school, Khoshaba Dojo, is equally proud of Harrison’s achievements. “Since Harrison began training with us, he has shown tremendous ability, growth and a courage and endurance that surpasses many of his fellow classmates. Over time, he has improved tremendously. It has been an honour and a privilege to see Harrison’s transformation and we are most definitely looking forward to many more years together,” Steven said. Having seen what Harrison has been able to achieve through karate, Liz’s advice to parents of children with Fragile X syndrome is simple. “Don’t do for your kids what they can learn to do for themselves. And never give up the hope that one day they will get it.” Page 7

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Fragile X Association of Australia


Fragile in the office GettingX Association: Ready for the NDIS By Robyn Iredale I want to document my experiences in seeking assistance for my son, Marty, in order to help other people understand what they need to do to access the NDIS. Learn from my mistakes! The NDIS provides an opportunity for a better quality of life for many of our members but we must all get prepared. There are a number of basic steps to go through: 1) Does X qualify for the NDIS? If you have not already heard that you can access the NDIS, please go to the following website. http://www.ndis.gov.au/ndis-acess-checklist You will be able to answer a series of question to assess the eligibility of yourself or your family member/s. The questions cover Australian residency, age, place of residence, type of support needed for everyday things, support needs to help reduce support needs in the future (early intervention). 2) How do I maximise X’s chances of being in the 1 July 2016 intake for the NDIS in NSW, Victoria and Queensland? I have heard, informally, that people who are already registered with their state/territory government disability service provider will be automatically contacted. I will outline my experience and hopefully it will be beneficial to others. Registration happened by chance for us some years ago when I was talking about my brother’s plan with the NSW Department of Aging, Disability and Home and Community Services (ADHC). I happened to mention my son, Marty, with FXS who was living at home with us. He then got onto the ADHC register and had several visits from a case manager. When Marty entered a Work Experience program with a job agency recently this was important as he needed ADHC funding and he got it quickly – as he was already registered with them. More recently I approached a community NGO (Northern Beaches Community Care - NBCC) for some help and I am now under their ‘Aged Carers’ program. This means Marty and I have a case manager who is helping with planning lots of aspects of our lives (accommodation options, employment, activities, wills, etc). Our case manager will also help with the development of Marty’s NDIS plan. So, if you are not registered with your state provider contact them, or an NGO nearby that can help you. You cannot get an Access Request Form till after 1 July 2016. 3) What can we do to get ready to develop an NDIS plan? Remember the person with the plan is the CEO of their plan! They can say what services/activities/etc they would like to access and from whom. One of the best tools available for writing a plan is at an Australian Government website. There is a workbook that helps go through the identification of needs, wants, aspirations, etc in preparation for meeting with an NDIS planner. Material is available in English, Arabic, Cantonese, Greek, Italian, Mandarin, Spanish and Vietnamese on this website. There is also specific information for Indigenous Australians and an Easy English Planning Workbook. See: www.ndis.gov.au/document/ndis_planning_workbook.pdf I hope this helps you to start to prepare for the NDIS even though you cannot register till after 1 July 2016 if you are not in one of the trial sites! Contact FXAA for more help: 1300 394 636 (free call) or email: support@fragilex.org.au See also:

Discover: A resource for people planning for the future A National Disability Insurance Scheme Help Guide Gail Casey, Veronica Jones and Patrick Keyzer (2013) This guide is available as a pdf document at https://www.endeavour.com.au/.../Fact%20Sheets%20Parents%20V2.ash... Or as an ebook at http://epublications.bond.edu.au/lgpp_pubs/1/ Page 8

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Fragile X Association of Australia


NDIS Experience - The Princes Ron and Lynne Prince have two adult children. David is 34 and Belinda is 32. Both Dave and Belinda have Fragile X syndrome, and they are NDIS participants in the Newcastle NDIS trial site in NSW. Ron & Lynne, with the permission of Belinda and Dave, have offered to share their experiences around how changes to the disability support system have impacted their lives over the past 3 years, allowing Belinda and Dave to achieve their goals and continue to create a good life for themselves. About Belinda and Dave Both Belinda and Dave work in supported employment situations. Dave works 3 days per week as a groundsman at Newcastle Uni. Belinda works 2.5 days a week in a Therapeutic Packaging business. They have been living away from the family home for over 6 and half years, in their own home which they share. Up until June 2012 they had been supported in their independent living in their own home predominately by us. In June 2012 Belinda and Dave were fortunate to each receive their first selfdirected packages through the Supported Living Fund, which was a NSW state govt initiative. They were the first people to transition in the Newcastle area into NDIS, in July 2013, and they are now into their third year of NDIS funding. Goals and aspirations Everyone should have the right to choose the way they want to live their lives. Goals and aspirations, and knowing what you want to do or achieve out of life, is important for everyone. The NDIS means that choices and control are becoming available to a person with a disability. From our experiences we suggest that for a person with a disability who is entering the NDIS it is especially important that they have an idea of what they want to achieve out of life, before they meet with an NDIS Planner to create their NDIS plan. Planning for the NDIS: A picture paints 1,000 words! We encourage parents, carers and people working with people with disabilities NOT to wait for NDIS to come to you - you should NOW be talking and engaging with the people you support to think about what they want out of life. They don’t necessarily need funding to start dreaming and setting goals for what they want to achieve!! The Supported Living Fund introduced Dave & Belinda to the concepts of their Dreams, Aspirations and Goal setting to determine their own support and funding requirements. The planning process used to help them come up with their own ideas about what they wanted to achieve over the next 1-2 years is known as a PATH. (Planning Alternative Tomorrows with Hope. ) These PATH sessions allowed Belinda and Dave to capture their goals & ideas in a simple diagrammatic way, giving Dave & Belinda a picture of what they wanted to achieve, and made it easier for them to talk with the NDIS Planner about what they would like to achieve.

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Fragile X Association of Australia


Paid supports for Dave & Belinda through their NDIS funding Dave, Belinda, and their support team know goals are important ……but they are merely words if you do not have the right supports in place to appropriately resource the plan to make things happen. As Belinda and David are individuals with their own personality and interests we discussed what type of people Dave and Belinda would want to assist and support them to reach their goals. Weighing the pros and cons and discussing with Dave & Belinda we made the CHOICE to recruit our own staff to assist Belinda & Dave: a home assistant to help them around the home, and lifestyle assistants, one for each to help them with community connections. The assistants have interests similar to Belinda and Dave, to support them in making the community connections. For example, Dave’s assistant helps him with woodworking, his voluntary work at Riding for the Disabled and his work at Bunnings – and fishing! All the things Dave likes to do! How do Dave & Belinda manage their Self Directed Packages? As Dave & Belinda have difficulty and a limited capacity to manage their own NDIS package, and particularly their funding, we made the decision that at this stage not to totally self-manage, but to have their individual funding amounts held by NDIS. Although in saying that, we do directly manage their monthly travel allowances that are paid by NDIS directly to them, to pay for transport costs for the paid support staff. Dave & Belinda, with our assistance, manage the other aspects of the packages, such as monitoring the NDIS plan, monitoring their NDIS budgets, recruiting, engaging and co-ordinating their paid supports, to make sure Belinda & Dave have choices, and have assistance to make decisions and have control. Under the NDIS system the way we engage support staff for Belinda & Dave is to have the staff either employed as contractors or be employed through a service provider. Our preferred option is to have them employed as a contractor and registered as NDIS Providers. At this point in time we are still keen and comfortable on the way we are managing the NDIS packages. The way we manage the packages suits us…but it may not suit others. How has NDIS system impacted on us? Firstly Lynne and Rod! We have had to put in some time to check and monitor the plans, negotiate on some issues, research information to make sure we understood the meaning of some items within the NDIS system. In early stages of transition to NDIS we experienced issues with accessing NDIS online information to manage the budgets and being able to access documents within David and Belinda’s NDIS portals. We have been frustrated at times mainly around NDIS computer system issues. However, the local NDIS staff have been very helpful and understanding. We have had to keep reminding ourselves that Newcastle is a trial site, there will be teething problems and we have remained patient. Now after 2 years, the NDIS processes and systems have significantly improved and our frustration levels have been reduced. We can see there are significant benefits and opportunities from the NDIS to allow Belinda and David, and for others to have more Choice and Control in their lives and to lead the life they want to. Page 10

December 2015

Fragile X Association of Australia


How has NDIS impacted on Dave & Belinda’s lives? We think the transition for Belinda and Dave into NDIS was made easier with the prior experience of having a self directed package through the Supported Living Fund. The transition was also made easier as Belinda & Dave and their support team knew what they wanted out of life and what they want to achieve. They had been prepared through the PATH planning process. During the NDIS planning and review processes, Dave and Belinda have been treated by the NDIS Planning staff with respect; they have always been at the centre of the NDIS planning process. So being through the NDIS Planning process 3 times, we see it has been a positive experience for them both. Now after 3 years of having self directed funding through SLF and now NDIS we can see a difference with Belinda & Dave, they are more settled, more confident, more independent, very happy, and we think it is because of the CHOICES they have been able to make and CONTROL they now have. Goals are important…… so the main goal for Lynne & Ron, as well as for Dave & Belinda’s support team is for those smiles to continue!!

This article is part of a more detailed presentation which Ron, Lynne and Belinda have given. The full presentation will be available on our website: www.fragilex.org.au

For information about NDIS: NDIS Carers Australia

www.ndis.gov.au www.carersaustralia.com.au

1800 800 110 1800 242 636

Janie Roberts - Fragile X Association counsellor Counselling offers empathetic listening, a non-judgmental attitude, a safe place to vent, and an opportunity to consider new insights and perspectives. Janie has experience with counselling in many areas that can affect families living with Fragile X, including anxiety, depression, isolation, grief and loss, finding balance, feelings of guilt, maintaining hope, relinquishing care, domestic violence and trauma, and changes in relationships. Janie encourages families, couples, siblings, and individuals to contact her for phone-based counselling support, or via skype, or, in the Sydney area, face-to-face support. The counselling provided is free and confidential. Janie can be contacted 2 days each week

Free call: 1300 394 636

Email: janie@fragilex.org.au

Janie has a Master’s in Counselling and Psychotherapy. She is a clinical member of Counsellors and Psychotherapists Association of New South Wales Inc (CAPA) and Psychotherapy and Counselling Federation of Australia (PACFA).

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Fragile X Association of Australia


This article appeared in Fairfax Regional Media, in The Advertiser, Cessnock in the Hunter region of NSW. Many thanks to Kimberley Pyne, and to The Advertiser, and the journalist Sage, for allowing us to share this story. Thanks to Endeavour Group for providing the photo.

Kimberley Pyne with her mother Linda Wheeler with OT students at Newcastle University

“Major features of Fragile X Syndrome may include anxiety and shyness, but Bellbird’s Kimberley Pyne hasn’t let it stop her from presenting on the topic at the University of Newcastle. The Endeavour Group Australia Cessnock Linen Services employee spoke about her condition to over 50 third-year occupational therapy students on October 12, as she wants to raise awareness about Fragile X and help people understand the condition. Kimberley, 23, said she felt misunderstood growing up with Fragile X, and wants to highlight the condition that many people aren’t aware of. “Lots of people aren’t familiar with it,” “I wanted to help those uni students understand how to best support a person living with Fragile X.” With the help of Endeavour professional development specialist Maryanne Roland, Kimberley created a Powerpoint presentation and spoke about her own experiences with Fragile X, her work and family life, achievements, future plans and some words of wisdom. Kimberley was proud of herself for completing the presentation in front of the students and also some of her family members. “It felt good that I did something out of my comfort zone,” she said. “It helps me gain a bit more confidence.” Maryanne also told Kimberley that the students really liked her presentation and thought it was very informative. Kimberley is now hoping to present on the topic at Endeavour’s Cessnock centre and spread the word into other centres across the region. Since her diagnosis at age nine, Kimberley has come a long way with her support worker Jess Adler. She can now catch the bus by herself, take care of herself and get ready on her own, change her hair regularly and purchase items from shops, all things that used to be too much for her and she even got her nose pierced. Kimberley also has techniques that she uses to overcome her anxiety, such as squeezing her hands, taking a deep breath and using cards with affirmations on them, and is continually trying to challenge herself and attempt new things. But the biggest thing Kimberley is trying to achieve is just being understood as a person. “I don’t want people to treat me any different, I just want people to see me as Kimberley,” she said.” Page 12

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Fragile X Association of Australia


PHOTO GALLERY

Richard and Karin popped into the office to see Janie recently

At our AGM: stars of the Working with Fragile X video!

We’re pleased to share some exciting news from Fragile X researchers based in the Department of Developmental Disability Neuropsychiatry (3DN) at UNSW Australia. Rachael Birch, a psychologist and researcher at 3DN, recently graduated with a Doctor of Philosophy degree (PhD) for her research focusing on male carriers of Fragile X. Rachael’s thesis examined the relationships between thinking and motor skills, brain volumes, and the Fragile X gene. Her PhD was supervised by Professor Julian Trollor from 3DN, Dr Darren Hocking from La Trobe University, and Professor Kim Cornish from Monash University.

Flying high at UNSW! Rachael with her partner Erin on graduation day in November

Rachael presented some of her findings at the Fragile X Update workshop with Drs Randi and Paul Hagerman, held in Sydney in August.

Rachael said: “I would like to thank all of the families who helped us with our research. We hope to continue this work and to raise the awareness of physical and mental health problems experienced by some carriers of fragile X. It is clear to us that there is a lack of information available to families about the types of things that can affect carriers’ health and wellbeing. We are currently seeking funding so that we can expand our study and use the findings to develop much-needed health information resources for fragile X families and health practitioners”.

FXAA BOARD 2015-2016 Robyn Iredale President NSW

Bruce Donald Treasurer NSW

Cathy Love VIC

Pam Montgomery VIC

Judith Lenart Secretary NSW

Nyleta McRae QLD

There are currently two vacancies on the Board, due to the recent retirement of Board members Tim Turpin from NSW and Jeremy Sweeney from WA. If you’re interested in joining our Board of volunteer directors, we’d love to hear from you. Contact Robyn Iredale or Wendy Bruce, at support@fragilex.org.au or call 1300 394 636 Page 13

December 2015

Fragile X Association of Australia


Sensory Christmas!

Chanelle

Chanelle Avison, originally from New Zealand, is now Brisbanebased, and a super-busy mother of three! Her youngest children, twins, have autism and for years she struggled to find a movie experience or a Santa experience that suited her twins. So a few years ago she approached a Brisbane cinema, Birch Carroll & Boyle in Morayfield, to ask them to run a sensory movie event. From that Sensory Movie Days were born, and now regularly run in Brisbane and other cities in Queensland, and in some interstate cinemas. Chanelle’s next initiative was a Sensory Santa experience for kids - an inclusive Santa event for families with special needs children including those with autism, Fragile X and other developmental disabilities. Her goal in initiating both types of events has been to create an opportunity for fun time away from home, and fun time away from life, for parents of special needs children - something she really felt the lack of when her children were small. Sensory Santa events are designed especially for children with special needs: spotlights turned off, no background music, no lines/queues, appointments, usually at a quieter time at a shopping centre, and a Santa who has been informed about what is a sensory child. The staff & photographer are also aware of the needs of sensory children. The Sensory Santa events have been a huge success - they’re everywhere this year! From one local shopping centre in Morayfield, in Brisbane, Sensory Santa events now run in 68 shopping centres across Australia: NSW, QLD, South Australia, Victoria, Tasmania, WA and NT. They’re running from mid November to mid December. On a purely volunteer basis, Chanelle and a friend run sensory events in Queensland and coordinate bookings in other states. Many of our Queensland FXAA members know Chanelle. In recognition of this Chanelle received a Longman Award for Individual Volunteer Achievement, in recognition of being a “shining light” of her local community in initiating sensory events for special needs children. Christmas hats off to Chanelle! Finding Sensory Santa locations for 2015 Go to www.havewheelchairwilltravel.net and search for “sensory santa”. Some of the Sensory Santa locations also have their own facebook pages with news and alerts. And Sensory Movie Day has a discussion group you can join on facebook.

Congratulations to Helen and Mike Tozer, who have officially launched fragileXhk! fragileXhk is a community for people affected by FX. We provide information, guidance and emotional support to families and individuals. We make the best of a tough situation, doing our best to help one another thrive. www.fragilexhk.org and on facebook and twitter Page 14

December 2015

Fragile X Association of Australia


Family Story: The McRae Sisters By Nyleta and Shelley McRae Nyleta and Shelley McRae are not just sisters. They are very busy mothers with three amazing children each. Three of those children have full mutation Fragile X syndrome, Autism Spectrum Disorder and Anxiety. One has Aspergers Syndrome and another has significant anxiety issues. You would think their plates would be far too full to take on anything more but you would be mistaken :-) As mothers of special needs children we are used to advocating for them. Like everyone else in this situation we have spent countless hours in therapy sessions, doctors appointments and intake interviews. We have purchased a mountain of therapy toys and devices recommended to us, some have worked while others haven’t. During this journey it became clear to both of us that we would never be returning to full time work. Nyleta has a background in corporate IT and Shelley has a background in scientific research, both careers that take focus and passion. We both realised this passion and focus has been transferred to our families, our children and their needs. As we searched for the tools we needed for our children we found they are often expensive, not available in any variety, or need to be ordered from overseas. So we came up with a solution:

www.PlayfulTreasures.com.au

Our primary goal is to provide a secure financial future for our families while still being home to look after our special kids. By starting our own business we hope to achieve this and more! We would love to be able to employ special needs people one day and take our children to conferences and holidays around the world. The sky is the limit really! We are extremely excited about giving Australian families more high quality choices and options when shopping for therapy tools and toys for their kids. We are passionate about bringing new ideas to Australia by listening to families and what they want. Playful Treasures has launched with a range of chewable jewellery for our oral sensory seeking treasures. We are building a range of chews that anyone can wear! Chews that are beautiful as well as functional so that mums and teething babies can wear them too! We are going to provide people with the option to make their own jewellery by ordering beads and medallions and keep growing our range. This is an incredibly exciting time for us :-) Nyleta and Shelley McRae

Thanks to Liz Schmitt for arranging for Fragile X t-shirts to be made by Kylie from Froth and Bubble Designs. Tshirts in sizes for men, women and children. Cost: $30.00 each + postage. $10 from the sale of each t-shirt will be donated to Fragile X Association.

Order via email: frothandbubbledezines@yahoo.com Artwork by Angie Barrett Grantman.

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December 2015

Fragile X Association of Australia


FX online www.fragilex.org.au

www.nfxf.org

The National Fragile X Foundation website in the US is a fantastic resource. It has toolkits for teachers of children with Fragile X syndrome, articles on behaviours, and on treatments and interventions, links to webinars, and more

Our Australian website has links to our videos, family stories, news of events, and information about Fragile X-associated disorders, a list of medical practitioners with experience in Fragile X, and more

No easy access to youtube? We can put any of our videos or other resources on a USB stick or DVD and post it to you. Our youtube channel has new videos made during the visit to Australia by Drs Randi and Paul Hagerman     

Fragile X: new FXS treatments & medications Premutation carriers: health issues, treatments and health maintenance FXTAS: an older face of the Fragile X gene Current Australian research on the FMR1 premutation Local Fragile X supports in Melbourne

 Q&A with Dr Randi Hagerman, filmed in Sydney. 30 minute interview covering latest treatments for Fragile X syndrome, health and wellness issues for carriers of Fragile X, FXTAS, and more Two editions of our Understanding Fragile X video For GPs - 6-minute version. Featuring Dr Jonathan Cohen, Dr Natalie Silove, Dr Randi Hagerman For families, carers, health professionals - 30-minute version. Featuring families, Dr Jonathan Cohen, Dr Natalie Silove, Dr Randi Hagerman, and occupational therapist Mandy Croft.

Fragile X Association of Australia page New posts every day: news, events, stories, and links. /fxAus Australian FX discussion groups National and state-based groups. International pages: US, UK, NZ, Hong Kong and other countries are really active on fb. Special interest discussion groups: eg, for carriers, and FXTAS. Page 16

December 2015

Fragile X Association of Australia


Fragile X Association of Australia represents individuals. families and carers of people with Fragile X-associated Disorders (FXDs) which include: Fragile X syndrome (FXS), Fragile X-associated Premature Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor Ataxia Syndrome (FXTAS). One of the key issues in the management of FXDs is appropriate and timely diagnosis and screening.

Diagnosis and Screening for Fragile X syndrome (FXS) and Fragile X (FX) carrier status The Fragile X Association of Australia (FXAA) strongly recommends: (1) diagnostic testing for children and adults with developmental delay and other indicators for the detection of FXS, in order to detect any FX association and to offer appropriate treatment and management strategies; (2) diagnostic testing of embryos of women who have FX carrier or FXS status and of any women who request it; (3) screening for FXS or FX carrier status in all women prior to or in early pregnancy, in order to provide the widest range of family planning options; and (4) introduction in the future of screening of all newborn babies for FXS (newborn bloodspot screening) which is currently not available. Some expanded information follows but it is strongly recommended that anyone interested in being tested discuss available options with their doctor or a genetic counsellor. Various options exist and need to be accessed through a GP, paediatrician, obstetrician or any medical practitioner or genetic counsellor 1)

Diagnostic testing for males and females with a clinical reason for testing including autism spectrum disorder, intellectual disability, developmental delay of unknown cause, fertility problems, tremor/ataxia of unknown cause or family history of Fragile X-associated Disorders.

This is a relatively routine test that can be requested through most major pathology providers. There is a Medicare rebate for this test if the patient exhibits any Fragile X-associated Disorder 1 symptoms or if Fragile X syndrome has been diagnosed in the family. However, there may be some out of pocket costs. (2)

Diagnostic testing of embryos

Pregnant women with FXS or who have FX carrier status can have a test of their foetus at 11 weeks with a result available in 3 weeks. They can then make a decision about their pregnancy based on the results of the test and in discussion with a genetic counsellor. Another option is to use IVF and Pre-implantation Genetic Diagnosis (PGD) to ensure that non-FX embryos are used. (3)

Screening for women and men

Screening for FXS or FX carrier status can be undertaken prior to pregnancy or early in pregnancy, and gives people information about their risk of having a child with FXS. People who have a relative with FXS or another Fragile Xassociated Disorder have a higher risk of being a carrier of FX than most people. Carrier screening is also relevant for people who do not have a family history of FX because many people who are carriers of FX do not have anybody in their family who has FXS or another FX-associated Disorder. It is estimated that 1 in 170 women and 1 in 800 men are carriers of FX. Women who have FX carrier status are at risk of having a child with FXS. Men who have FX carrier status do not have FXS children but pass the carrier status on to all their daughters. If a woman learns that she is a FX carrier, Fragile X Association of Australia suggests arranging an appointment to see a genetic counsellor. A genetic counsellor will take a detailed family history, discuss the results, options for further testing if she is pregnant, options such as pre-implantation genetic diagnosis through IVF for future pregnancies, and can help with making decisions and providing support. The genetic counsellor can also discuss genetic testing for other relatives who may also be carriers. Page 17

December 2015

Fragile X Association of Australia


FX carrier screening by DNA testing can be ordered by any medical doctor or through a clinical genetics service. The process involves a simple blood test or, in some cases, a cheek swab. The cost is covered by Medicare for people with a family history of FX-associated Disorders. For those without a family history, there is a charge (usually around $150-$200). Some services also offer carrier screening for other common inherited conditions alongside FX carrier testing. If you are interested in this it is worth discussing these options with a genetic counsellor, obstetrician or your GP. Details of genetics services around Australia can be found here: http://www.genetics.edu.au/Genetics-Services/genetic-counselling-services (4)

Newborn bloodspot screening for FXS

Newborn screening for FXS is currently not available in any state or territory of Australia. A national Newborn Bloodspot Screening Working Group was established in 2014 and is expected to report in 2016. It is hoped that the criteria for testing will ensure the inclusion of conditions such as FXS where early intervention and treatment make a difference to the life of the individual, their family and society. (Note that newborn bloodspot screening for FX carrier status is not recommended by current medical ethical guidelines.) The demonstrable benefits of early treatment and behavioural intervention, in addition to the identification of risk in subsequent and relatives’ pregnancies, present a strong argument in favour of FXS newborn population screening. As both the degree of intellectual disability and behavioural problems are highly variable (especially in females with FXS), the average age at clinical diagnosis is significantly delayed in Australia (at around 5 years). Newborn bloodspot screening would remove this delay. If you have any queries about diagnosis and screening for Fragile X syndrome and Fragile X carrier status please contact Fragile X Association of Australia on 1300 394 636 (free call) or by email to: support@fragilex.org.au

Free parenting support A new parenting support program is now available free of charge to every parent of a child with a disability aged 2 to 12 years living in Queensland, Victoria and New South Wales. Stepping Stones Triple P is a specially tailored program for parents of children with special needs and is part of the Triple P - Positive Parenting Program, one of the world’s most effective parenting programs.

To find out more or to register for free group or individual parenting sessions in Queensland, Victoria and New South Wales, go to www.triplep-steppingsones.net

Our Annual Report 2014-2015 provides a great overview of our activities over the past 12 months, and includes our audited financial statements. The Annual Report is available on our website, or by contacting our office: 1300 394 636

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December 2015

Fragile X Association of Australia

Fragile X Australia newsletter December 2015  

FX Info newsletter * Getting ready for the NDIS - personal story * FXAA position on diagnosis & screening for Fragile X syndrome and FX car...

Fragile X Australia newsletter December 2015  

FX Info newsletter * Getting ready for the NDIS - personal story * FXAA position on diagnosis & screening for Fragile X syndrome and FX car...