FX Australia December 2016 newsletter

FX INFO

DECEMBER 2016 1300 394 636 (free call)

Here put xmas message

INSIDE:

A big shoutout to our supporters !

This year so many people have volunteered their time, energy, skills and expertise to help us provide support, counselling and information to the Fragile X community.

Many have made donations, fundraised, and helped at events. Many have helped us raise awareness of Fragile X in the wider community, and across the health and disability sectors.

A number of people have given presentations on our behalf at conferences and events.

Others have come up with great new ideas for our social media and communications!

We wouldn’t be at our best without your help.

It’s been a great 2016, and we’re looking forward to 2017!

From Graham Hook, the Board, and Wendy, Amanda, Katrina and Liz in the FXAA office.

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December 2016

Fragile X Association of Australia

Farewell from Robyn Iredale, President 2013-2016 Dear Members & Friends, This is my final newsletter contribution as I stepped down from the Board at the AGM on 7 October. I have had a very long and interesting period with the Association: first on the NSW FX Committee and then on the FXAA Board as President from 2013. I have enjoyed the experience very much and worked hard on many different issues. I have valued the support and collaborative approach of Board members. It has been demanding but also very rewarding and I feel that the Association has made significant gains in terms of awareness raising, support and education. Less success is to be seen in the acquisition of funds and grants and the overall financial viability of the FXAA, though the Endowment Fund is slowly growing.

I would like to pay tribute to all the people that I have worked with but especially to Doug Rodgers (long time Treasurer), John Kelleher (as a member and then President), the late Leonie Star (as President), Bruce Donald (as member and Treasurer) and Tim Turpin (as Secretary and Chair of the Science & Research Committee). In particular I would like to thank the Cunningham family for their substantial and ongoing financial support of the Association.

The FXAA is crucial: for supporting the FX community; for informing the wider community; for providing a national voice on FX and for promoting research. It relies on members and volunteers from the community to provide advice and expertise to direct the Association’s activities.

I would like to wish you all the very best and thank you for your participation in and contributions to the FXAA over the 13 years that I have been involved. I will continue to stay active in various ways and look forward to the continued growth and success of the Association. I think that we now have a very professional and effective organisation that has put FXDs on the national agenda.

To parents of FXS children I have a special message. Always give your young people as many opportunities as possible and don’t necessarily accept what you are told about your child. You know best! Years ago I was told by a school doctor (she should have known better!) that Marty would never work and yet he has had two long term jobs and has been employed on a permanent basis. His sports and especially his Special Olympics tennis have all been vitally important for his confidence and self esteem. As a teacher I know that kids rise to our expectations so we should aim to give them the best life that we possibly can!

As a carrier I feel much of the pain that other carrier parents feel but I always try to be optimistic and positive. The extra protein that carriers have in their brain often enables us to be highly organised and tenacious. The story of my daughter being selected as the sailing reporter for the Rio Olympics attests to this.

Best wishes, Robyn Iredale

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December 2016

Fragile X Association of Australia

Graham Hook, new President Hello, it is good to be back in the Fragile X community. I served on the FXAA Board in the 90’s as the vice president and then the president from 1994 to 2000 before moving interstate.

My son James has FX and has just turned 29. He works three days a week in an assembly factory in Brisbane. He enjoys his life and he seems to be happy.

We drifted away from FXAA while pursuing other activities for James, as he became a teenager.

In the early days of FXAA the emphasis was on the newly diagnosed and young children.

There was very little known about teenagers and adults.

James loves basketball and has played since he was 8 or 9. He played in mainstream teams through local sporting groups and school teams. He still plays and has been a Brisbane North member of Special Olympics since 2008.

He represented QLD at the Trans-Tasman tournament in 2013 and his B grade men’s team won the silver medal.

I came back to FXAA as a board director in April this year and was asked if I would consider stepping up to the president position to allow Robyn to retire. Robyn has served FXAA with great dedication, particularly during a time when some difficult decisions had to be made. We are grateful Robyn will stay in contact with us through her contributions as a member of the FXAA Research & Scientific Committee.

I would also like to acknowledge Bruce Donald’s contribution in the role as treasurer, and in development of the constitution and provision of legal advice. I have asked Bruce if he would continue his relationship with us as honorary legal advisor.

I am happy that FXAA is in a good position and has survived through some challenging times. We have recently conducted a recruitment program to rebuild the Board of Directors and have attracted a diverse range of wonderful people with skills that will enhance our mission. If you have not seen the new Board on Facebook their bios are here in this newsletter.

Recently Wendy Bruce, Nyleta McRae and I met with senior Queensland Health executives to consider an alliance utilising their networks. It was a very productive meeting and we will update you as developments eventuate.

We were impressed with their knowledge and understanding of the wide range of challenges FXAA has to juggle with our limited resources.

I am keen that we support the enthusiasm of our members across the country, particularly in supporting their fund raising activities. Every bit goes towards better support for our cause. A national effort for the Fragile X Awareness Month in July 2017 would be great and Wendy has some ideas about how we can build on this year’s efforts. We will focus on that early next year and are happy to listen to any ideas you have and provide support where we can.

There are over 600,000 not-for-profit organisations registered in Australia and it is a $43 billion sector within our GDP. According to the Australian Centre for Philanthropy and Not For Profit Studies at QUT, philanthropy is on the rise in Australia. Philanthropists generally like to fund innovations that governments are less keen on such as Fragile X. Current studies show that most Australians will donate but it has to be to “the right person asking for the right amount for the right project at the right time”. This is an area I have asked the Board to investigate and follow up.

We encourage our members to contribute ideas or put us in contact with people who may be willing to help our cause. We are developing a checklist to help members wanting to run fundraising activities and will let you know when its ready. If you have ideas please contact Wendy at the office.

The key priorities I have put to the new Board to tackle over the next two years are: * maintaining an office as the first point of contact * the ongoing program of awareness of FX, particularly within the medical fraternity * reinvigorating the family clinical support, and * securing new and ongoing funding for our operations and growth in the level of support we can provide to families.

I am excited about working with the new Board, supporting the member base and tackling the challenges that lie ahead.

Regards, Graham Hook

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December 2016

Fragile X Association of Australia

Fragile X awareness month was huge!

It was a festival of orange in July…. For the first time, landmarks were lit orange for Fragile X on the weekend of 22 July. The Story and Victoria Bridges in Brisbane were vibrant orange, thanks to Nyleta McRae, as was the Launceston Town Hall, thanks to Shane Lyons and Jo Ryan in Tasmania.

FX fundraising packs were trialled in Brisbane, the inspiration of Nyleta & Shelley.

FX Awareness packs were sent out to 40 schools and groups across the country.

Orange twibbons all over social media. Your friends, and our friends, wore orange to mark the occasion. Media coverage in Victoria, Tasmania and Brisbane!

Thanks to everyone for their enthusiasm & energy!

Launceston Town Hall

Dylan’s team —Perth

Kids Are Kids! —Perth

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Victoria Bridge, Brisbane

Dr Bruce Bennetts & team Westmead Hospital —Sydney

December 2016

Fragile X Association of Australia

CHASING A WORLD RECORD FOR FRAGILE X Mike Tozer has inspired us all this year in his quest to increase awareness of Fragile X on a global scale!

Firstly he ran a half marathon—that’s 21.1 km—in a suit, in May. This was Mike’s first attempt to win a Guinness World Record and to claim the media coverage that would follow. Valiant effort, missed by a whisker.

Not to be beaten, he completed the look with a stylish waistcoat, and tried again in July. Perfectly timed with Fragile X awareness month, naturally.

A brilliant win! And the Guinness World Record for fastest half marathon in a suit is his!

Mike’s been on the media circuit for Fragile X since. Newspapers in Australia and Hong Hong. Men’s style magazines! National Public Radio (NPR) - an interview aired on some 200 radio stations in the US. And on 3 December, at a TED Talk event in Hong Kong, where his theme was the hare and the tortoise—the importance of pacing a race, to secure a win.

You can follow Mike on his blog, his fastsuitguy Instagram, and on facebook.

Congratulations, Mike!

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December 2016

Fragile X Association of Australia

FRAGILE X IN THE MEDIA

Dr David Godler

A new study investigating a test for Fragile X in newborns has the potential to provide results to parents within days unlike the current system where many parents may not get a diagnosis for their child for several years.

A team at Melbourne’s Murdoch Childrens Research Institute, led by geneticist Dr David Godler, is using automation to screen blood spots from the heel prick tests of 100,000 Victorian babies. It is hoped that the results from the pilot study will result in the test being permanently incorporated into newborn screening for all babies.

The study will also help determine if the incidence of the disorder is under-estimated.

This study was profiled in the print media during July, Fragile X awareness month. Dr Godler was also interviewed on ABC radio about the study. http://www.theage.com.au/victoria/fragile-x-breakthrough-worldfirst-study-to-screen-100000-victorian-babies20160708-gq1iye.html

Fragile X is a family diagnosis Brisbane Channel 7 news reporter Emily Fardoulys prepared a brief but informative story about Fragile X-related conditions.

Titled Bid to Raise Awareness of Genetic Condition Fragile X, Emily interviewed Nyleta McRae, a carrier of the Fragile X gene, and her mother Rosemarie McRae, also a carrier who is now aged 62 and living with Fragile X-associated Tremor Ataxia syndrome.

Rosemarie McRae and family

She also interviewed Dr Honey Heussler, Child Development Medical Director at Lady Cilento Children’s Hospital in Brisbane. The McRae family and FXAA were delighted with the accuracy of the story and fabulous graphics Emily used to create the 1 min 49 second piece.

This has been an exceptionally effective way to increase understanding of Fragile X conditions. The video has been widely shared around the world, and viewed around thousands of times. Available on the Yahoo 7 News website.

Many thanks to the McRae family for initiating this media coverage of Fragile X.

If we can help with anything please get in touch 1300 394 636 (free call) or support@fragilex.org.au

Suite 6, Level 3 39 East Esplanade MANLY NSW 2095

Wendy Mon-Fri Page 6

Liz Fridays

Katrina Mon-Tue

Amanda Tue/Thurs/Fri

December 2016

Fragile X Association of Australia

FAMILY SUPPORT AND COUNSELLING I’m available in the office and by phone/skype Tuesdays, Thursdays and Fridays.

My focus is on encouraging families, couples ,individuals and siblings from the Fragile X community to contact me for face to face support or phone/skype based support.

I can also provide referral and advocacy support as you navigate services and government departments in an increasingly complex environment.

Amanda Rummery-Hoy

I have experience in social work, counselling and adult vocational education.

NDIS: Support Coordination What is it?

Support Coordination is intended to provide assistance to those registered with the NDIS and their carers to connect and coordinate informal, mainstream and funded supports.

Support coordination can be especially helpful when

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You have complex needs that require coordination and liaison with multiple services You have complexities in your family situation You have complex health and medical challenges You need help to find services that can work with you in a creative and flexible way You need help to find services able to develop positive ways to understand behavioral challenges.

There are barriers to you connecting with supports

What next When you meet with your NDIS planner, this is the time to discuss your support coordination needs so it will be included in your plan. That way once your NDIS plan is approved, you can choose a Support Coordinator who will be funded to work with you to help you put your NDIS plan into action.

Contact me if I can help with preparing NDIS plans for people in your family of people you are caring for.

Back to School for 2017 For when you’re ready to think about transitioning your child back to school for Term 1 in 2017, we’ll put some resources and links on facebook & our website early in the new year.

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Such as this booklet from FX Society in the UK which is an introduction to educational needs for children with FX (download from www.fragilex.org.au) There are also some articles written by Dr Lesley Powell about educational perspectives for girls with Fragile X And from the National Fragile X Foundation in the US there are some tip sheets for teachers who might be new to Fragile X

Adults with Fragile X syndrome If you have an adult in your life with Fragile X Syndrome, this recent booklet on The Fragile X Society (UK) website may be useful.

Its easy read format with graphics is designed to increase an understanding of FXS. I like its potential to promote conversations about how FXS may impact, and ways to manage issues such as anxiety; social interactions and learning.

It’s also a good resource to pass on to service providers.

Online to read or download: www.fragilex.org.au

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December 2016

Fragile X Association of Australia

ACHIEVEMENT AWARDS 2016 Thank you to everyone who nominated someone for an Achievement Award 2016.

The winners were announced at our Annual General Meeting on 9th October.

Congratulations to everyone!

Here’s an overview of the winners’ achievements.

Read their full stories on our website: www.fragilex.org.au

Rebecca Jansen

Participation and Achievement in Bowling

Rebecca loves ten pin bowling! She loves the social interaction and feeling of inclusion that so many people who play regular sport enjoy. While Rebecca only started bowling half way through this year, she has competed in multiple events, including Single and Doubles competitions and has an impressive collection of trophies already! Rebecca is proud of her achievements, as are her parents, who nominated her for an Award.

“We are delighted to see Rebecca so engaged in the sport and developing friendships with the other players. The results are important but we believe they are secondary to Rebecca feeling included and participating in the sport alongside other people.”

Matthew Bowen Independence and Social Skills Through his commitment to sport Matthew has become more independent, outgoing and socially involved.

This year he represented Tasmania on two interstate sporting trips. He was selected in the Tasmanian Indoor Cricket team which competed in the Lord’s Taverners Shield at the Australian Open Indoor Championships in Springvale, Victoria in June 2016. He was also selected in the Tasmanian AFL Inclusion team which competed at the AFL Inclusion Carnival in Melbourne in August 2016. Matt’s involvement in sport, and his clubs, have been a great way for him to make new friends and build self-esteem.

Ben Kalenjuk

Participation and Resilience

Ben is an incredibly resilient boy and one that a Father could not be prouder of. He attends mainstream school, has a collective of supportive friends, plays cricket, involves himself in soccer and loves extra curricula school activities such as music and art. He is prepared to push himself outside his comfort zone – he doesn’t like it but he does it. I so often forget just how large the gap between his world and our normal world is…..and every day he gets up and faces the challenges with absolute joy.

For anyone who knows Ben or has been around him the one take away each and every time you see him is just how beautiful his soul is.

Daniel Cox

Growth in Confidence and Independence

Over this past soccer season, the growth in Daniel’s confidence and independence has been remarkable. For the past 3 years he's been volunteering at his local sports club, the Oak Flats Falcons Soccer Club. Up until the 2016 season, Daniel would help his mum stock and clean the canteen. At the beginning of this year’s season, he was able to pass orders to customers but by the end of the season, he was independently serving customers, taking their money and with some guidance, giving them change.

Earlier this year Daniel was recognised with a special Club Helper of the Year award for the support he provides them and both Daniel and his parents, Tina and Jimmy, were extremely proud.

Stuart Iredale

Participation in Music and Bowling

Stuart has made a huge adjustment from living in mental institutions for 45 years to living in the community in an Achieve Group Home at Westmead. He has been supported by both his family and carers, especially Maria and Moby, in this change and has learned to be a much more active participant in life. In particular, he is now engaged with music therapy and he plays the drums and sings with his teacher. He has a huge repertoire of songs that he knows, especially country and western, and he will be performing "Pub with No Beer" at this year's Xmas concert. His other passion is now ten pin bowling. He plays 6 or 7 times per week and regularly wins "Player of the Week".

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December 2016

Fragile X Association of Australia

ACHIEVEMENT AWARDS 2016 Inclusion and Participation Strengthen Rebecca’s Love of Bowling Like many 20 year olds, Rebecca Jansen loves sport. She loves the social interaction and feeling of inclusion that so many people who play regular sport enjoy.

Rebecca’s sport is ten pin bowling. She only started bowling half way through this year and in September, was a member of the Queensland Disability Ten Pin Bowling Championships held in the Coolangatta / Tweed Heads area of south-east Queensland. Rebecca’s parents say that she has very good hand-eye coordination, and given her meteoric rise in the sport, bowling is obviously the perfect sport for her.

Rebecca has Fragile X syndrome and was diagnosed when she was five years old. Last year she started work at the Endeavour Country Kitchen in South Burnett where many of the employees are involved in bowling. Through her co-workers, she became interested and involved in the sport.

At the Queensland Championships, Rebecca competed in multiple events including Women’s Singles/E grade, Teams/D grade, All Events Women/E Grade and Double/E Grade, and in her category, placed second overall to the winning bowler who has 30 years bowling experience. That is an incredible result and needless to say, Rebecca was very proud of herself and her achievements.

Rebecca’s parents, David and Lesley, are equally as proud of Rebecca and wanted to nominate her for an Achievement Award to recognise both her participation and her results.

“We are delighted to see Rebecca so engaged in the sport and developing friendships with the other players. The results are important but we believe they are secondary to Rebecca feeling included and participating in the sport alongside other people.

They said, “As parents of a young adult with Fragile X syndrome, the best advice we can give to other parents is to facilitate any activity that allows your child to create friendships and bonds with others”.

Rebecca plans to continue bowling alongside her other interests of music, the internet and watching movies. At this point, she doesn’t have any specific goals for bowling but who knows? Given her love of the sport and her natural aptitude for the game, maybe Rebecca will become the next national Disability Ten Pin Bowling champion.

We were invited to give a presentation at the annual conference for the Prof Association of Nurses in Developmental Disability.

It was held in Parramatta and 300 disability nurses from around Australia were there over 2 days.

We had a Fragile X information booth and our counsellor Amanda gave a presentation focussed on employment perspectives.

She focussed on the strengths of young people with Fragile X and some of the challenges they can face in seeking employment.

As part of the presentation, Ross MacKenzie and his mother May took part in a Q&A session. Ross talked about what he enjoys about working, and about the role he currently has at a café in Sydney. He also spoke of the challenges he faced recently when he was in between jobs. Ross and May took a number of questions from the floor.

We thank Ross and May very much for sharing their experience with this group of health professionals.

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December 2016

Fragile X Association of Australia

CELEBRATING CHRISTMAS! Our Favourite Christmas cards are back!

Hand drawn designs, by Miriam, who was 7 at the time, and by Luciana who was 8 years old. $15 per pack of 10 cards (incl GST & postage) ORDER online: http://playfultreasures.com.au/fragile-x-associationaustralia/ ORDER by phone :

1300 394 636 (free call)

Sensory jewellery—perfect gifts for Christmas!

Chewable jewellery which can be worn by both children and parents. Every bead and pendant made from BPA free, food grade silicone.

FX Heart Bracelet

FX Hex Bracelet

Designed by Playful Treasures, which was founded and is run by Nyleta and Shelley McRae, two parents of young children living with Fragile X and autism.

These items were designed for Fragile X Association, in our signature colours. All profits from the sale of these items will go directly to Fragile X Association.

FX Shark Pendant

FX Hex Necklace

FX Flower Necklace

ORDER ONLINE from our FX Shop, at http://playfultreasures.com.au/fragile-x-association-australia/

Look out for our share-able Christmas and New Year messages on our social media

Many thanks to Kate, aunt of Harry & Tommy, from Stream Art Design in Devonport, for creating our new social media graphics!

Follow us for news We have a great collection of FX videos on Page 10

December 2016

Fragile X Association of Australia

DYLAN’s STORY: LIFE AFTER SCHOOL When Dylan completed High School in 2012 I really didn’t know what was in store for him as School was such a big part of his life. On Graduation Day he received a standing ovation from ALL the graduating class of 2012!

Well I‘m happy to say that now Dylan’s social life is busier than ever. He works two days a week with Intework, a supported employer doing gardening at various locations, which he loves.

The other three days he is with his ATE provider Interchange WA doing all sorts of activities which include swimming, dancing, woodwork etc and general socialising with his peers.

In his spare time he also is part of the Catch Music program where he plays the drums and strums on his guitar.

Graduation Day

Dylan is also a member of CBC All Abilities Football club which he loves being a part of. This year in June he was chosen to be part of the boys that got to play at Domain Stadium before the West Coast v Adelaide game.

He reached his 50 GAME milestone at the end of this year’s season. This past season he has won 2 Best on Ground Awards for his skills on the Football field which are improving all the time.

All in all even though there are days where I struggle with some of his issue’s he has a very busy and active life, maybe a little different from your average 21 year old but still a GREAT one!

Showing his skills at Domain stadium!

By Debbie Beresford, Dylan’s mother

ANNUAL GENERAL MEETING AND FAREWELL Our Annual General Meeting was held on Sunday 9th October, in our office in Manly, with phone connections to Adelaide, Brisbane and Melbourne. Robyn Iredale chaired the meeting, and thanked the Board and the members for their support over the past years.

Dr Sam Bolitho from St Vincent’s Hospital was our guest speaker and he talked about the work of the FX carrier clinic.

Four new Board members were elected and welcomed to the Board: Katherine Brown, Mike Tozer, Nadene Lee, Lisa Ryan.

The AGM was followed by a farewell afternoon tea for Robyn Iredale and Bruce Donald, who have retired after a combined 2 decades on the Board.

Dr Sam Bolitho

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December 2016

Fragile X Association of Australia

Graham Hook, President. Graham’s son James is a young adult with Fragile X syndrome. Graham has re-joined the Board , having previously served as President of the Association in the ‘80’s. He is a current member of the Australian Institute of Company Directors. Graham spent the majority of his career in the Air Force and now serves as a business manager within the Department of Defence. Graham also volunteers with Special Olympics Qld as a basketball coach for one of the Brisbane teams. In his spare time he enjoys gardening, cultural events, catching up with friends or just being with his wife Amanda. He is an amateur artist who enjoys doing landscapes and portraits in oils. Graham is based in Brisbane.

Lisa Ryan, Treasurer. Lisa has worked across several countries, primarily in banking and consulting roles with a strong focus on technology, process improvement and use of digital channels. Although not directly affected by Fragile X, Lisa has two young boys that have been diagnosed with Autism Spectrum Disorder which provides an understanding of the path that families need to follow. Lisa is based in Melbourne.

Judith Lenart, Secretary. Judith is an experienced director of both corporate and not-for-profit organisations in Australia and New Zealand. Judith has served on seven boards including two terms recently completed on the council of CatholicCare Broken Bay in Sydney. In New Zealand Judith established an AIDS trust, founded and managed a private school, was a youth mentor and busy mother. She is qualified in property valuation, natural health and school trusteeship, and is a consultant in life sciences investment. Judith is based in Sydney.

Cathy Love. Cathy is a registered occupational therapist and coach who has extensive experience working with children with developmental disabilities and their families. She was the founding director of a large private therapy services practice and also the state-wide manager of a service providing multi-disciplinary team therapy services to children in Victoria. Cathy has worked with many families with Fragile X syndrome, and presented nationally and internationally on the topic. Cathy is based in Melbourne.

Nyleta McRae. In 2011 Nyleta’s first child was diagnosed with Fragile X syndrome, at the age of 2. The family had no Fragile X diagnosis prior to that and subsequently her daughter and nephew were diagnosed with Fragile X syndrome, and Nyleta, her mother and sister were all diagnosed as carriers of the Fragile X pre-mutation. Nyleta’s mother has now developed FXTAS. Nyleta has chosen to become actively involved with increasing awareness of Fragile X-associated Disorders, the impact of NDIS, and providing FX families with better support and medical assistance. Prior to becoming the mother of 3 children Nyleta worked in the IT industry in Australia for nearly 20 years. Nyleta is based in Brisbane.

Mike Tozer. Mike is originally from the UK and is married to Helen who is from Sydney. They have two children, Josiah aged 5 and Hannah aged 7. Josiah has Fragile X syndrome while Hannah is not medically affected. However, she does point out that she is still indirectly affected as a sibling of a brother with Fragile X! Mike has worked in the non-profit sector in Hong Kong for more than a decade and currently runs Fragile X Hong Kong. He is also a runner and has recently broken the world record for the fastest half marathon in a business suit! He took on the record to raise funds and awareness for Fragile X in Australia and internationally. Mike is based in Sydney.

Nadene Lee. Nadene has led corporate, marketing, product and business development strategy for a range of media businesses, as well as organisational, marketing and funding strategies in the not-for-profit sector. Nadene is passionate about increasing health literacy and outcomes. Most recently this has involved contributing to the growth of an educational health TV and patient brochure board network in over 3,500 General Practices around Australia. Nadene is a current Director on the Board of The Right Direction Australia, holds a Masters of Business Administration (MBA) and is a current member of the Australian Institute of Company Directors. Nadene is based in Sydney.

Katherine Brown. Katherine is English and moved to Australia in 2006 with her husband David. Together they have two children. Samantha is 8 and has not been tested for Fragile X. Andrew is 6 and has Fragile X syndrome. Katherine is a carrier of the Fragile X pre-mutation. She has worked in the finance industry for over 10 years and also has experience in public speaking. Katherine has recently taken up running and likes to run for fitness with friends, but has also taken part in several organised running events and has used these events to fundraise for FXAA on several occasions.

Katherine is based in Adelaide.

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December 2016

Fragile X Association of Australia

MEDICAL COMMUNICATIONS PROJECT We had a terrific presence at the Healthed GP Education Days this year.

This gave us the chance to talk face-to-face with GPs and other health professionals about Fragile X-associated disorders, including FXTAS and some health issues impacting women who are carriers of Fragile X. Around 2400 delegates attended in total!

Thanks to everyone who volunteered – setting up the information booths, and talking to the doctors! And thanks to Cathy Love for giving a presentation in Adelaide—’What GPs need to know about the NDIS in South Australia.’

Perth: Rod & Lynn Brown and Shante Sweeney ran the information booth

Melbourne: Mary Wilson, Diane Bentley

Brisbane: Tracey Chester, Judith Bavister, Graham Hook

The International Association for the Scientific Study of Intellectual & Developmental Disabilities conference was held in Australia for the first time. We had an information booth and spoke to many of the delegates about Fragile X syndrome.

Adelaide: Katherine Brown-

Sydney: Simone Zaia

Dr Jane Tracey presented at the annual national conference for rural GPs, on behalf of Fragile X Association.

Dr Tracey spoke on: Better Health, Better Lives: Doctors and Developmental Disability, with a focus on Fragile X as an exemplar of care.

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December 2016

Katrina Weir, Prof Ted Brown

Fragile X Association of Australia

MEDICAL COMMUNICATIONS PROJECT Over the past few months, we have been working with Jean Hailes for Women’s Health on initiatives to raise awareness of women’s health and wellness issues associated with Fragile X, specifically Fragile X Premature Ovarian Insufficiency, or FXPOI. Just last week, this article was published in Medical Observer, a leading journal for general practitioners.

Many thanks to Jean Hailes for their interest in our work and for suggesting this topic to Medical Observer as part of their regular Talking Women column. (Reproduced with kind permission of Medical Observer)

By Katrina Weir

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December 2016

Fragile X Association of Australia

HEALTH ASPECTS FOR CARRIERS OF FRAGILE X Fragile X Carrier Family FXTAS Clinic at St Vincent’s Hospital in Sydney Made possible by the generous support of the Cunningham family, who are members of Fragile X Association, this monthly clinic is being run by neurologists Associate Professor Stephen Tisch and Dr Sam Bolitho.

It is a dedicated service for carriers of Fragile X and their families, initially for those who have some concerns about or may be at risk of developing FXTAS: Fragile X-associated Tremor Ataxia syndrome.

The clinic is open to carriers of Fragile X and their families from anywhere in Australia who can attend the clinic in person.

The clinic offers an initial 1-hour consultation with Dr Tisch or Dr Bolitho, and followup appointments and referrals. It also offers consultation with a qualified counsellor, Janie Roberts, who is the former counsellor for Fragile X Association.

There is no cost associated with attending the clinic, and the only administrative requirement is a GP referral to Dr Tisch.

The clinic generally takes place on the last Monday of each month, in the afternoon.

At present, Fragile X Association is acting as a secretariat for the clinic by liaising with the Fragile X community and coordinating scheduling arrangements.

2017 Places are available for the following dates: 27th February, 27th March, 1st May, 29th May, 10th July, 31st July, 28th August, 25th September, 30th October, 27th November.

For further information about the clinic, or to make a booking, contact Wendy at Fragile X Association: 1300 394 636 (free call) or email wendy@fragilex.org.au

Research in the area of Fragile X premutation-related health concerns for women is changing rapidly. If you are a carrier of Fragile X it's important to stay up to date on this topic.

This is a terrific 28-page guide covering health issues for female carriers of FX, and will also be a good resource for families and healthcare providers.

It can be read online, or downloaded from here: https://issuu.com/fragilexaustralia/docs/final-pm-materials-12.13.15-short

And we have a limited supply of printed copies here in the FXAA office. (contact us on 1300 394 636 or email support@fragilex.org.au ) Many thanks to the Prof Stephanie Sherman and the Genetics team at Emory University in Atlanta, Georgia, for making this booklet available to everyone in the FX community at no charge.

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December 2016

Fragile X Association of Australia

PHOTO GALLERY

Nyleta McRae, Wendy Bruce, Dr Sue Hooper at Qld Department of Health Ross MacKenzie with the team at his new workplace, Cafe Racer in Mona Vale, Sydney

Daniel and his Awards!

Marty Campbell and his latest Special Olympics medal!

Christian at school on FX Day

In October we hosted a terrific family picnic in Glenorie, in the Hills District of Sydney, at the home of Trish & Graham Piper. Our picnic coincided with their garden being part of the Open Garden scheme, as a community fundraiser.

Everyone had a great day! Sunny, warm, plenty of space to run around, and the kids had fun with playdough, pipe cleaners and stickers!

Thanks to the families who came, to Amanda for organising all of the food, and May MacKenzie for helping us set everything up.

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Fragile X Association of Australia

GETTING TO KNOW YOU Carolyn Rogers

from the NSW Genetics of Learning Disability (GOLD) Service

I commenced working as a genetic counsellor in 1991 and was initially employed in Goulburn. Although I’d come from a nursing background, I knew very little about genetics and commenced a very steep learning curve. Professor Gillian Turner was my supervising Geneticist and she took the task of educating and mentoring me very seriously (there were no genetic counselling courses available in Australia at that time). There is a fine line between encouraging someone to achieve without applying too much pressure and Gill had those skills perfectly tuned. I would not have achieved what I have today, without the mentoring I received from Gill and there are many others working in genetics who could say the same.

My first memory of meeting a man with Fragile X syndrome was at Kenmore Hospital where I spent two years doing my psychiatric training after completing my general nursing. He was a ‘gentle giant’ and remained imprinted in my brain.

The memories resurfaced years later when Gill asked me to work in the Fragile X Service. I had completed six years working in general genetics which reminded me a little of my seven years in Accident and Emergency, where you never knew what was going to walk or be wheeled through the door! I liked that challenge. So when Gill first asked me to work in a department that only saw families with one condition, I had some reservations. I was happy to work with Gill, but I honestly thought I’d be a little bored after a few years. How wrong I was!

So the Fragile X Service changed its name to The GOLD Service in 2000 and next year will mark 20 years for me and I’m still here. I think the two main reasons why are firstly, I have loved working with you all and I have some very special connections with some families and secondly, there is always something new to learn about FRAX. I don’t know if we will ever know all there is to know, but I have seen so many advances just in my time, it’s truly amazing and it’s only going to get better from here.

Participating in the Novartis Clinical Trial didn’t give us the outcome we were hoping for but Jackie and I really enjoyed getting to know the young men and women who participated. We both looked forward to their visits and were truly educated about bands, football, cars and movies. We loved hearing jokes and all the accent changes from some of our ‘comedian’ participants.

I have had the privilege of working with so many families over the years, sharing happy news and some very sad news.

I’ve found that knowing families over a long period of time has been really rewarding and I’ve seen children and teenagers grow into very responsible adults. I know how difficult and challenging young children with FRAX can be but I’ve also been able to see how special they become as adults. I have seen so many really settle down and achieve so much more than the first man I met in 1980, who had been institutionalised for most of his life. I’m certainly not bored yet and am a few years off retirement, so I’ll be around a little longer. It really has been a pleasure.

Best wishes, Carolyn PS. About me…

I have three adult children and two beautiful grandsons. When I’m not working, I enjoy hiking, riding (bikes and motor bikes) and my gorgeous dog, Millie.

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Fragile X Association of Australia

FUNDRAISING RAFFLE 2016 The raffle was a great success!

Many thanks to Ricky Crowe for handcrafting a beautiful wooden digger and seesaw for us to raffle.

Tickets were on sale throughout July.

Ricky Crowe

The winning ticket was drawn on 8th August by Ian, from DHL in Manly, a friend of Ricky.

Ian Terry

And the winner was….. Mrs L Bradley from Brisbane, whose grandson has Fragile X syndrome. Mrs Bradley and her family decided to donate the equipment to Pine Rivers Special School, which her grandson had attended.

And it’s being put to very good use!

Many thanks to DHL in Manly for wrapping up the digger, ballpit & seesaw and transporting it from Manly to Brisbane at no charge. We appreciate their generous support!

School newsletter article: “We recently had a donation of some playground equipment to the Pine Rivers Early Childhood Development Program (ECDP). The equipment was donated by a previous ECDP family who won a fundraising raffle prize through the Fragile X Association. The equipment was handcrafted by Ricky who is one of the Association’s members.

Ricky has 3 brothers with Fragile X syndrome. He made the equipment to raffle as a way of increasing awareness of Fragile X Syndrome.

The ECDP students were very excited to try out the see saw and digger in the playground and these new additions are being enjoyed by all the children.

We would like to thank the Fragile X Association for organising such a great raffle prize and to the Scrimgeour/Bradley family for thinking of us with their kind donation.”

Michelle Verhoeven

FUNDRAISING RAFFLE 2017 Raffle tickets on sale January 2017!

This special board has been used by champion surfer Bede Durbidge in competitions.

It’s been signed for us by three professional surfers, two of whom are former world champions: Bede Durbidge, Mick Fanning and Joel Parkinson.

It’s a Mt Woodgee board and has been donated to Fragile X Association by Bede, his wife Tarryn, and Bede’s sponsors. The donation was organised by the Semple family, who are members of Fragile X Association. Tim Semple says: “Hope we can raise some money and awareness of Fragile X syndrome!”

The winning ticket will be drawn after the Bridge to Beach ocean paddling fundraiser on Sunday February 26th in Manly.

Kye & Lewis Semple think it’s an awesome board!

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Fragile X Association of Australia

FUNDRAISING

Register and Vote for Fragile X in December!

In it to win it! #goodwill #giveback This is an an annual competition for charities. Online voting—where the charity with the most votes wins.

The prize this year is free web and audio conferencing for a year, and $10,000 in cash. This is a fantastic prize! It would really boost our family support capacity—more hours of our social work counsellor, and we would be able to run information webinars on Fragile X topics, and a lot more.

Register now, and vote each day! www.choruscallaustralia.com.au/giveback/

Trish & Graham Piper, from Glenorie in the Hills district of Sydney opened their garden for the annual Galston & District Garden Club community fundraiser. The Garden Club has donated $3,000 to Fragile X Association.

Masonicare has generously agreed to match this amount, making a total donation of $6,000.

24 Hours without a Word!

Communication is a huge challenge for children with Fragile X syndrome.

Emily Jones took on this challenge for her cousin Josiah and other children like Josiah. And she raised $840!

“Hi my name is Emily and I am in year 7.

I'm raising money for the Fragile X Association of Australia by going 24 hours without a word. I'm a very talkative person, so this will be really tricky for me! The base of this charity choice is because of my little cousin. He is currently 5 years old and has Fragile X [….] but at the moment he has the cognitive processing ability and verbal abilities of a 2 or 3 year old. This means so much to me and to my family, and I would really appreciate your support! Every donation counts!

Thanks to Sheena Malcolm from Perth who took part in the City to Surf on Sunday 28 August, raising $645.

Australian Leigh Riddell took on the 100 mile London-Surry challenge!

Leigh and his family are currently based in the UK. He rode to raise funds for The Fragile X Society, UK as well as Fragile X in Australia.

But he says: “Most of all though, I am riding for James, whose challenges ahead are enormous, but who inspires me every day.”

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Fragile X Association of Australia

KIDS ARE KIDS! THERAPY SERVICES IN PERTH The last 12 months has been a busy and exciting time at Perth based Kids Are Kids! As a charitable not for profit therapy service provider we were thrilled to be asked to host Professor Randi Hagerman’s Western Australian clinics last August and to have the opportunity to meet with Wendy Bruce and develop our relationship with the Fragile X Association of Australia. Our staff found the visit inspiring and prompted yet further reflection and development of the range of services we provide to children and adolescents with Fragile X, autism and other conditions.

Families who receive support from Kids Are Kids! develop a strong and supportive relationship with the therapy team. The team is there to work collaboratively with families to provide the level of emotional support, information and advice that is unique to every family and their own individual circumstances.

This means that families can make informed and effective decisions in regards to their child’s intervention and feel well supported from diagnosis or earlier to adulthood.

We provide services in homes, schools, child care facilities or anywhere relevant to the child and their family.

All of the therapists at Kids Are Kids! have highly developed knowledge in early childhood and school age development. The Kids Are Kids! Team is committed to travelling the journey with families and working together to promote all children reaching their full potential. We understand that for complex conditions such as Fragile X this genuine care and individualized therapy is so important. Our dedicated teams of Speech Pathologists, Occupational Therapists, Physiotherapists and Clinical Psychologists have also been developing additional programs available individually or in a group format for mealtime management, hydrotherapy, social skills and communication programs, including specialised groups addressing the particular needs of children with autism and Fragile X syndrome.

We are very excited about our new Circle of Security Program which will enable families of children with special needs to access this world renowned intervention which improves relationships and understanding between parents and their children and is based on well established attachment theory principles. Plans are underway to run a group designed specifically for parents of children with autism or Fragile X early next year.

While we are based in the Perth metropolitan areas of Bateman and Rockingham, we have also been developing our services for families living in rural and remote locations and are now offering sensory assessments and clinical psychology services through a telehealth medium which families can access in their own homes. We have also set up a centre in Mount Barker serving the Great Southern Region of Western Australia.

There have been many changes to our centre in Bateman over the last 12 months.

Thanks to the amazing fundraising and generosity of the Think Fragile X Foundation we have extended and renovated our reception, waiting area and Fraggles physiotherapy room. Extensions included a new relaxing parent retreat where parents can have some time to themselves while their children play outside.

In November were thrilled to announce opening of the Xploration Hub, a new sensory room facility at Kids Are Kids! This facility has a separate active and calming room fully equipped with state of the art equipment, thanks again to the Think Fragile X Foundation, founded by Maria and Luke Goss, whose sons Ethan and Logan have Fragile X. Children will be able to experience therapeutic sensory input that helps them to reach their optimum potential and explore their world with wonder and joy.

If you are in Perth please come visit us at our Bateman office or for further information on any of our services call our friendly staff on (08) 93136566 , visit our website kidsarekids.org.au or keep up to date by following us on facebook.

Written by Teresa Barrie, Kids Are Kids!

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Fragile X Association of Australia

JAMES’ STORY: THE SCHOOL YEARS

By Graham Hook

Whilst living in the USA in 1992 James, at the age of four, was diagnosed as “Learning Disabled”.

We had no idea what this meant and there were no details on the cause but he got to attend a special pre-school that had amazing resources. Upon our return to Australia in 1993 James underwent some testing with a paediatric neurologist at Westmead Hospital and diagnosed with Fragile X syndrome. It was a relief to have a label but we knew nothing about what it meant. This was before the internet was a common day resource!

We were put in touch with the Fragile X Association, which was a small group of mostly parents with FX children. Their resources were limited to mostly information from the UK FX group.

James’s FX behaviour was mild even though the genetic diagnostics indicated he was severe.

We had challenges with the NSW Education Department with schooling options but stuck by our choice to have James attend mainstream school with aide support. James presented with the classic characteristics of eye aversion, hand flapping and speech difficulties. He did have a wonderful smile and gentle nature which always left a memorable impression on everyone he had contact with.

The start of each year a new battle commenced with the NSW Education Department. The belief the Department had was the aid provided the previous year should have fixed his disability. It was extremely frustrating getting the bureaucracy to understand he wasn’t going to get better.

James attended a small state school in the lower Blue Mountains and the staff and other parents were very supportive. All the kids knew James and looked after him.

One year his new teacher was very reluctant to have James in his class. The two aides that shared James ensured James’ development wasn’t impeded by this teacher’s attitude.

Eventually James finished Year 6 and the school’s tradition on the last day of school was all the students formed an honour guard for the year 6’s to walk through as they left primary school. James got to lead the Year 6’s out of primary school.

The next two years were in Darwin where James started high school in the Catholic system as we formed an opinion the Northern Territory system would not offer the best support for James’ requirements.

The Catholic system was very supportive but it did require us to help the process maybe more than the “State” systems would have. The end result was the best outcome for James.

After two years we returned to the Blue Mountains and James attended the local high school and had his aide from primary school. James completed a life skills program with a higher schools certificate with honours in woodwork. The honours were an external assessment which gave it credibility. James enjoyed his school life and now at 29 he still looks back at his school year books frequently.

It is a difficult process finding the right education situation and everyone has different levels of capability. We were lucky with James in that he was able to assimilate into the classroom environment. It took patience and time. He spent a lot of time in the library with his aide as the classroom could be over-stimulating at times. The aides James had were wonderful people and established a trust with James. We had looked at special needs classes in other schools but were not sure it was the right place for James. Something we learnt early was that people with FX imitate so having good role models goes a long way to their development. The special needs classes we observed seemed to be a place children were put because they didn’t fit the ‘norm’ or had behavioural problems.

There is no simple answer and each child has to be placed in the school situation that they can become comfortable in and also learn. Schooling is critical to the way they will live their adult life. As parents I think we need to be realistic in school placement, not be afraid to go outside the comfort zone and let the children be pushed to achieve. It can be tough, but you have to have faith.

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December 2016

James with his grandfather Peter Hook

Fragile X Association of Australia

RESEARCH MATTERS Important research findings in FXTAS New older premutation carriers of FX invited to participate in a study

By Dr Danuta Loesch, La Trobe University, Melbourne

This article has been repeated in FX Info as further participants are needed for the study.

Background Since the population frequency of the Fragile X premutation (PM) is relatively high, ranging from 1 in 250 to 1 in 468 males, and from 1 in 113 to 1 in 209 in females, it puts millions of people at risk for the clinical symptoms that have been linked to this genetic anomaly. The most severe disorder associated with the premutation allele is Fragile X Associated Tremor-Ataxia syndrome (FXTAS), which is still under-diagnosed by medical professionals, and can sometimes be disregarded by a proportion of Fragile X families, where the main focus is usually on the youngest generation affected by the Fragile X syndrome. This is understandable but not advisable considering that after the age of 60, approximately 40% of male and 16% of female carriers develop FXTAS, a progressive debilitating neurodegenerative disorder presenting with tremor, imbalance, cognitive decline, or parkinsonism, underscored by typical changes in brain tissue seen on MRI scanning.

Research objectives .The pathological mechanisms leading to FXTAS still remain unclear and researchers are yet to understand why only half of Fragile X premutation carriers develop FXTAS as they get older. As a result, further research into this disorder is imperative. It is also important that studies identify the changes that may occur before the onset of clinical symptoms of FXTAS, thus creating an opportunity to delay or prevent the appearance of this severe condition. There is also a need to ascertain if the risk for FXTAS is linked to other medical problems that are more common in younger carriers than controls, such as early menopause in females, immune-mediated disorders, hypertension, sleep apnoea, muscle pains, or migraines.

Medical explanation and findings so far The key to address these issues relies on valid and convenient markers of disease risk and progression. Our latest study conducted at La Trobe University (soon to appear in Neurodegenerative Diseases journal) discovered a group of biomarkers in cells of the most accessible human tissue - blood, which may be predictive of eventual occurrence of FXTAS. These biomarkers may also help us to understand processes leading to this severe condition associated with PM alleles. Importantly, apart from early detection, these identified biomarkers allow for further exploration of specific targeted treatment for this disorder. Our results, based on cultured white blood cells (lymphoblasts), showed that the rate of oxygen consumption and the relevant metabolic activities in these cells were dramatically elevated in PM carriers affected with FXTAS compared with controls, with no damage to the cells’ organelles (which are the sites that produce energy for the body) being recorded. Importantly we also found that these changes were significantly associated with the extent of brain damage assessed by the MRI scanning, which implicates their role as suitable disease biomarkers. We noted that similar elevations were also present in some carriers who did not show clinical symptoms of FXTAS, suggesting that they may represent the early stages of disease, or they are warning signs of potential risk of the disease. We also considered a possibility that blood cells may be activated in response to the existing or impending brain changes, which would have serious implications for future treatments strategies.

Interested in helping further this work?

Although our study has been the world first, it only involved 16 older male PM carriers and 7 healthy controls.

Therefore, it cannot continue without the involvement of new participants- affected or unaffected PM carriers, so that our important results can be validated on much larger independent samples.

Participation in this project, which is supported by the NIH collaborative grant with Profs Paul and Randi Hagerman from UC Davis in the US, involves brief neurological and neuropsychological testing, a blood sample draw to test for the relevant biomarkers, and MRI scanning (except in participants with contraindications or anxiety).

If you are interested in participating in the above study, or would like more information, please contact the project Chief Investigator- Dr Danuta Loesch by email d.loesch@latrobe.edu.au or on 03 94584014, or the project neuropsychologist- Mrs Eleanor Hammersley Dr Danuta Loesch e.hammersley@latrobe.edu.edu or on 0418147848.

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Fragile X Association of Australia

RESEARCH MATTERS

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This article has been repeated in FX Info as further participants are needed for the study.

December 2016

Fragile X Association of Australia

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December 2016

Fragile X Association of Australia