September 2015 Newsletter

FX INFO SEPTEMBER 2015

1300 394 636 (free call)

In August Drs Randi and Paul Hagerman visited Australia for 2 weeks, spending time in Melbourne, Perth and Sydney.

Many thanks to Royal Bank of Canada for their generous financial support, and to our member Leigh Riddell, who secured this grant for Fragile X Association.

Many thanks to Neuren Pharmaceuticals for their kind financial support of the events.

Dr Paul Hagerman, Dr Randi Hagerman at Murdoch Childrens Research Institute, Melbourne

Annual General Meeting All members and friends are welcome to join us for the AGM followed by light refreshments.

When: Where:

RSVP:

Saturday 24 October 2015, 2:00-3:30.

Fragile X Association Office Suite 6, Level 3, 39 East Esplanade Manly, New South Wales Monday 19 October: support@fragilex.org.au

Are you interested in joining our Board?

The Fragile X Association operates with a Board of 8 directors. Board members are all volunteers.

Some are from families affected by Fragile X, while others are not.

Two Board members will retire at this AGM and, after many years on the Board, our Treasurer Bruce Donald will also retire within 12 months.

If you’re interested in learning more about the Board positions, please contact Wendy in the office: 1300 394 636 or email: wendy@fragilex.org.au

Fragile X Association Achievement Awards These Awards celebrate perseverance and successes.

They are intended to provide inspiration and encouragement to the people nominated, and to other families.

Past winners have been recognised for their personal achievement in one of a wide range of areas, such as: art, achievement at school, sport, in achieving independence, supporting others, in community participation.

Achievement Awards for 2015 will be announced at the AGM on 24 October.

To nominate someone for an Achievement Award: Send the nominee’s name and a short description of their achievement to support@fragilex.org.au OR by post to Fragile X Association of Australia, PO Box 109, Manly NSW 1655 Page 1

September 2015

Fragile X Association of Australia

From the President Dear Members & Friends, Spring has sprung and we all have a spring in our step! We have just had a most successful two weeks around the Hagermans’ trip to Australia. This newsletter will be devoted largely to filling you in on all the events that took place but I want to highlight a few.

Robyn Iredale

Professor Randi Hagerman (paediatrician and medical practitioner from the MIND Institute, UC Davis in the US) was a keynote speaker at the conference in Sydney in August. We asked if she could extend her stay in Australia to do some extra workshops, clinics and talks for us.

She agreed to do this and Professor Paul Hagerman, her husband and a molecular geneticist, decided to accompany her.

Wendy and Katrina then set about organising a comprehensive series of events for both of them, across Melbourne, Perth and Sydney. It was like a military exercise but the Hagermans did have 2 days in the middle of their trip to go to Rottnest Island, off Perth, which they thoroughly enjoyed.

It was wonderful that they agreed to go to Perth and Sue, Maria and Luke Goss (members of the Association) and Jeremy Sweeney (a Board member) were invaluable in helping us to organise the Perth activities. Other groups in Perth (Kids Are Kids Therapy & Education Centre, and Developmental Disability WA) also played a major role and it was great to involve such a wide range of community and support groups. We felt very positive and that we had reached out to tell a lot more people, especially families and professionals, about the latest findings in FX-associated Disorders. Hopefully, families in WA will feel much more connected to Fragile X Association.

Melbourne provided an opportunity for Paul and Randi to meet with a lot of FX researchers and update them on developments. A Fragile X Disorders Day was organised by Dr David Godler from Murdoch Childrens Research Institute, who is also a member of our Scientific & Research Committee.

We are especially grateful that Paul could meet privately with many neurologists around Australia and discuss the diagnosis and implications of FXTAS with them. This is such a new field that there is very limited knowledge and they were all eager to know more. Families were also able to attend an afternoon workshop and obtain more information about Fragile X-associated disorders, especially on carriers of Fragile X. A highlight in Sydney was a reception sponsored by the Garvan Research Institute of Medical Research to welcome Randi and Paul ,and to introduce them to many people in the medical community with an interest in Fragile X, including neurologists, genetic counsellors, as well as our supporters and members and major donors to FXAA. Many thanks to Professor John Mattick for welcoming the Hagermans and hosting this event. The integrated way in which Randi and Paul are involved with FX became very obvious and we are all so lucky that we have a couple who have dedicated so much of their life to understanding Fragile X and helping families. It is clear that they love their work and can see its benefits.

We had a very good workshop in Sydney and it was a pleasure to meet a lot of new families, carers and professionals. Paul and Randi love to walk so I took them on a bush walk to some rock art in Pittwater, near where I live. They enjoyed this so much that by the time we got home, most of our lunch guests had left!

I wish to thank Wendy, Katrina, Janie and Liz for working so hard in the office to make this trip a success. Many others helped and I have mentioned some above but there are many more, including Dr Rachael Birch and Dr Claudine Kraan gave us insights into their current Fragile X research and we are very grateful to them for presenting.

I also wish to thank Royal Bank of Canada and Neuren Pharmaceuticals for their financial support, which made it possible for Fragile X Association to host the Hagermans’ visit and sponsor the events.

Hopefully next time, when the Hagermans make their next trip to Australia - 19th visit for Paul! - we will take them to some other states/territories.

Warm regards Robyn Iredale Page 2

September 2015

Fragile X Association of Australia

Melbourne Drs Randi and Paul Hagerman began their Oz trip with a day and a half spent at La Trobe University, hosted by Dr Danuta Loesch, speaking with researchers about Fragile X and neurological disorders.

Dr David Godler and Dr Randi Hagerman

Thanks to our supporters

Dr David Godler arranged a Fragile X Disorders Day at Murdoch Children’s Research Institute on 21st August.

The morning program was research focussed, with Paul and Randi presenting, and taking part in a mini symposium showcasing local studies.

Speakers included Dr Marta Arpone, Chriselle Hickerton and Dr Alison Archibald (MCRI), Annie Shelton and Dr Claudine Kraan (Monash University).

The afternoon was family focussed. Randi presented on targeted treatments for Fragile X syndrome, and health & wellness issues for carriers of Fragile X. Cathy Love, FXAA Board member, spoke about local supports and services for people with Fragile X, including Fragile X Alliance. Paul presented on FXTAS, and Claudine Kraan profiled Australian research on issues affecting carriers of Fragile X.

Many thanks to Murdoch Childrens Research Institute for hosting the Fragile X day.

Thanks to Dr David Thorburn from VCGS for welcoming the Hagermans. Both VCGS and Genetic Support Network of Victoria provided some financial support to cover costs, for which we are grateful.

Particular thanks to Dr David Godler and for making all the arrangements, and to Helen, Ben and Nusrat from MCRI for all their fantastic assistance on the day.

From the presentations: slides and videos

Cathy Love and Janie Roberts

The slides from all presentations are available on our website: www.fragilex.org.au The presentations were filmed, and the videos will be available via our website / youtube soon.

In Sydney, a 30-minute Q&A session with Randi was filmed, and will also be on youtube soon.

During her presentations Randi also mentioned a series of articles from medical journals on medications for Fragile X, and FXTAS and other issues for carriers. Contact the Fragile X office if you’d like to see copies of the articles: 1300 394 636 or support@fragilex.org.au

Dr Claudine Kraan

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September 2015

Fragile X Association of Australia

Perth In Perth around 100 people got together at The Boulevard Centre in Floreat on 25th August. After a few bites to eat and a coffee, Robyn Iredale welcomed Randi & Paul and thanked the Perth community for the very warm welcome extended to Fragile X Association.

Robyn especially thanked the local organisations who had supported the FX Update seminar, and the clinic sessions Randi gave during the day.

A grant from Community Living & Participation Grants (via NDS) funded the venue hire and catering, Kids Are Kids Therapy Services made Randi and the families welcome for the clinics, and Mary Butterworth from Developmental Disability WA coordinated the bookings & marketing, and provided invaluable “on the ground� knowledge.

Dr Randi Hagerman with Robyn Iredale and Jeremy Sweeney

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Fragile X Association of Australia

Paul spent a morning at PathWest, within the Queen Elizabeth Medical Centre, hosted by Dr John Beilby and Dr David Ravine.

Paul presented to a large group of clinical geneticists and researchers on Fragile X-associated tremor ataxia: when good RNA goes bad. Presentations were followed by group discussions.

Dr John Beilby and Dr Paul Hagerman

Many thanks to Ann Salisbury for taking photos during the Perth Fragile X Update at no charge.

We’re very grateful to Ann for donating her time to give us a record of the evening.

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September 2015

Fragile X Association of Australia

© WEST AUSTRALIAN NEWSPAPERS LIMITED

This article was published in The West Australian to coincide with the week Drs Randi and Paul Hagerman were in Perth.

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September 2015

Fragile X Association of Australia

Sydney Monday 31 August was the final day in Australia for Randi and Paul, after a busy 2 weeks profiling Fragile X. Around 70 people got together at The YHotel Hyde Park to hear from Randi and Paul about the latest on Fragile X. Dr Rachael Birch, from UNSW, also gave a presentation on the latest Fragile X carrier research being conducted in Australia.

Then, at the end of the afternoon, Katrina Weir interviewed Randi for a Q&A video, which will be on our website/youtube soon.

Ross Mackenzie and May Mackenzie

At the Welcome event hosted by the Garvan Institute for Paul and Randi they shared anecdotes about their work - and about each other!

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September 2015

Fragile X Association of Australia

Raising Awareness of Fragile X within the Medical Community The past few months have been busy planning for the visit of Professors Paul and Randi Hagerman, and getting everything finalised for the first of the HealthEd GP Education Days, in August.

Every year, HealthEd runs a series of one day GP Education events in five capital cities of Australia. And every year the number of GPs attending these events increases with around 2,000 GPs nationwide expected to participate this year.

Katrina Weir

The education days are designed to be evidence-based and highly practical so that GPs can return to work with real -life, useful information that they can apply in their day-to-day work. Fragile X Association has been working with HealthEd for over a year to secure speaking opportunities at each of the five GP Education Days in 2015.

Professor Stewart Einfeld, Chair of Mental Health, Faculty of Health Sciences, University of Sydney, and a Senior Scientist at the Brain and Mind Research Institute, kicked off the HealthEd circuit on Saturday 11th August speaking at the University of New South Wales on our behalf.

The topic was ‘GPs’ management of intellectual disability and autism’ with a particular focus on Fragile X syndrome.

Key messages for GPs included: * Don’t accept that there is no known cause for your patient’s intellectual disability unless there has been an assessment by a geneticist in the last few years * If parents are concerned about a child’s developmental delay, referral for further testing is recommended. Parental concern is enough to indicate referral for specialized testing * There are 750+ known causes of intellectual disability. Including Fragile X.

Professor Einfeld

* Developmental disabilities are not just childhood problems. * Behaviour problems are not caused by intellectual disability per se they are caused by co-morbid factors which need to be understood.

Stewart’s presentation was well received and he has since had contact from several of the GPs who were there wanting further information. Wendy was also there to answer questions and to man the FXAA exhibition stand. We are extremely grateful to Professor Einfeld and to HealthEd for providing us with this fantastic educational opportunity.

In October the HealthEd conference will be held in Melbourne, Adelaide and Brisbane. In Melbourne, Dr Jane Tracy from the Child Development Unit will present the same topic on behalf of Fragile X Association, and our Board member Cathy Love will be at a Fragile X information stall.

In Adelaide the event will be held on 24 October and Dr Chris Barnett will present on our behalf. In Brisbane the conference will be held on 31 October and Dr Doug Shelton will present.

On 7 November the conference will be held in Perth, and Dr John Wray will present.

Fragile X Association is extremely grateful to each of the speakers for preparing for these sessions and presenting to GPs. Thanks to HealthEd for providing the opportunity to increase awareness of Fragile X within the GP community throughout Australia.

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Fragile X Association of Australia

Paul and Randi Hagerman arrived in Australia on Wednesday 19th August to a packed 3-state itinerary. Although they were both present at several events throughout their stay, when it came to meeting with medical professionals, they often went in different directions.

Paediatrics: Randi was the keynote speaker at the Neurodevelopmental & Behavioural Paediatric Society of Australasia conference that was held at The Menzies Hotel in Sydney on 27th and 28th August.

Randi’s presentation was ‘Targeted treatments for neurodevelopmental disorders: The Fragile X Model’ on the opening morning of the conference, and she again spoke the following day on ‘Where did it all go wrong?

Neurodevelopmental pathways and their implications’.

Feedback from the conference was exceptional, with several paediatricians saying that Randi’s presence added something special to the conference.

FXAA was a sponsor of this conference which provided us with an opportunity to provide information about Fragile X in the delegates’ satchels. We also had an exhibition stand which Janie and Liz attended for the first day of the conference, together with FXAA member Rosie Donald.

We are thankful to Associate Professor Natalie Silove, Head of Child Development Services at the Children’s Hospital Westmead, for providing us with this opportunity and we look forward to maintaining contact with many of the paediatricians from around Australia and South-East Asia who expressed interest in Fragile X syndrome.

Rosie Donald

Neurology: While Randi was busy at the conference, Paul was travelling all over Sydney giving presentations on FXTAS and the science behind the condition to neurologists with an interest in movement disorders at Westmead Hospital, Royal Prince Alfred Hospital and at the Kolling Institute at Royal North Shore Hospital.

At the end of these talks, Paul said he didn’t think there was a neurologist in Sydney that he hadn’t met! Not totally true! but it gives you an idea of the extent to which we were able to tap into the neurology community and increase awareness of Fragile X. While Paul and Randi were in Sydney, the Garvan Institute of Medical Research generously hosted a cocktail reception for Fragile X Association to welcome them to Sydney.

We invited many of the doctors, researchers, funders and other supporters in the Fragile X community to meet and hear a short presentation from our visitors.

We were warmly welcomed by Professor John Mattick, Executive Director, who spoke briefly about the exciting and ground-breaking work that the Garvan Institute is currently doing in genome sequencing. This is an area of science that has progressed in leaps and bounds over the past few years and, in time, will bring enormous benefits, particularly early diagnosis, to families with a history of genetic conditions such as Fragile X. FXAA is extremely appreciative of the Garvan Institute’s generosity and for making us all feel so welcome in the beautiful Curran library.

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Fragile X Association of Australia

Thank you to our supporters!

Congratulations to Alarice, who did the 10km run in the Bridge to Brisbane on 30 August.

Alarice ran in honour of her brother Eldric, who has Fragile X. Alarice said: “ The run went very smoothly. Nearly half way through my pregnancy now and I ran the 10km without stopping once! So pleased :) Even better with the help of my lovely family and friends I raised $1,186! My original goal was $200 as I wasn't sure how much was realistic to aim for so I've been very pleasantly surprised with how supportive people have been!”

Alarice, Paulo and baby Carter

Alarice’s partner Paulo and baby Carter were at the starting line to cheer her on, and then raced around to the finish line to greet her when she crossed it!

Another Mufti Day for the Sydney CommSec team in August to support FX

Galston Rotary Club’s Giant Book Fair in July was a huge success - 50,000 books on sale!

Many thanks to the Rotary Club for donating $500 from the funds raised to Fragile X Association.

Andrew Brown’s mum Katherine has been on the run - again!

This time it was the Adelaide City-Bay, on 20 September.

And Katherine’s colleague Chris Hampton was running too.

Thanks to Genea Joggers for taking on the Sydney City2Surf for Fragile X last month.

The Genea team helped Cynthia Roberts raise more than $5,000!!

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September 2015

Fragile X Association of Australia

Fragile Association: in the office Thank Xyou to our supporters!

In Triabunna in Tasmania, there was lots of fundraising activity in late July!

Thanks to Triabunna District High, Jamie’s school, for holding a special “orange ribbon day” and raising funds for Fragile X Association.

Many thanks to Abbigail Ryan for approaching the school and local businesses and groups A Friday Mufti day at Patrick’s school supported Fragile X. Many thanks to the staff for using the event to increase the students’ understanding of Fragile X syndrome.

Jamie

Thanks to Narelle Robertson for encouraging Lions Club of Korumburra to support Fragile X

Louise from Gosnells in WA ran a 2-week Fragile X awareness campaign at the local primary school where she works.

Louise’s fantastic display included lots of Q&A facts about Fragile X, as well as a series of books and other resources for families of children with Fragile X.

Ben Gower from Launceston has been doing a fantastic job selling Fragile X ribbons!!

Thanks Ben! Page 11

September 2015

Fragile X Association of Australia

PHOTO GALLERY

Bronwyn with Di and Letiesha

The Victorian FX parent support group has a get together in Melbourne each month. If you’d like to be contacted about the get togethers please get in touch with Bronwyn: bronwyn@kelse.net

Debbie and Shawn

Adelaide: Sherri with Braeden and Anneleh Off to the footy!

Morning cuddle in Perth ....

Twins Ben and Zak - inseparable!

FX T-SHIRTS 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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September 2015

Fragile X Association of Australia

Family Story: The Ruby Family

By Patti Ruby, Perth

Simon, Mia, Connor and Patti Ruby I am a carrier of Fragile x, my sister is a Fragile X carrier, as you would assume my mother is too.

We have four affected males in our family. I have also been through two PGD IVF cycles.

My brother who is now 50 and has Fragile X, is now living independently with carers coming to help him cook meals and clean. Everything else he does himself.

He mows the lawns, makes his own bed, gets himself dressed, showered, makes his own lunch everyday and makes his own breakfast in readiness for his day, 5 days a week at the Endeavour Foundation. A bus collects him everyday and brings him home. Proof that even though people are intellectually impaired they are quite intelligent. With his carers he goes grocery shopping and he knows what he needs. He has been independent for 8 years now.

For many years my parents battled with him to get him in the car to go to our annual Christmas get togethers which was 3 hours away. Well after 49 years of #winning!‌ he lost, mum and dad left him with respite on Christmas day last year after 49 years everyone survived! He had a great day and so did they!

I embarked on having children, knowing I was a Fragile X carrier. I fell pregnant, I had a CVS under the care of Queensland Genetics and Dr Pritchard and I had a non-carrier female, Mia. My second child, Connor, was through PGD; at this stage I had educated my gynaecologist on what Fragile X is because he didn't know he hadn't heard of it. He received some information on two centres in Australia who offered PGD, one was Perth and one was Sydney.

Well Sydney won.

We had two cycles, the second cycle I had four embryos in, knowing 50/50 chance of them splitting after the PGD and turning into four. I was told at the transfer, the female embryo didn't look strong at multiplying but the male looked strong. In December 2003 I gave birth to a healthy boy.

It was a long hard road that I went into not knowing what was next. I wanted children and I realised "it is what it is" no one was coming to help me. Based on results I feel blessed.

More family stories www.fragilex.org.au

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Fragile X Association of Australia

Reading Jayne Dixon-Weber from the National Fragile X Foundation in the US is co-author of Fragile X Fred published in August 2015.

Available from amazon.com $US7.99 Look around you. Every person you meet has been mouded by an intertwining of genetic information and personal experience.

This book aims to help people of all ages understand that although individuals with fragile X syndrome do have certain challenges, these challenges do not define them. It’s a valuable tool for educators, siblings, parents, and children with Fragile X syndrome.

“You are your child’s strongest advocate and fiercest protector.

For extraordinary things to happen you need to advocate assertively and lead with skill and determination – you need to Become Chief of your special needs tribe.”

Cathy Love is a Board member of Fragile X Association.

Her book is available online with free delivery http://www.nacre.com.au/the-book/ As a parent of a child with extra special needs there’s always a lot going on.

 Are you overwhelmed by child development experts, complex funding and disability systems?

 Are you frustrated by aspects of your child’s school and therapy program?  Are your time, energy and leadership skills slipping through your fingers?

You are not alone. Many parents feel overwhelmed.

Becoming Chief is written to help you feel more energised, informed and confident to lead your child’s tribe to the brilliant outcomes you dream of. The tough topics are covered, wonderful real life stores told and practical parentfriendly tips are shared, including: *Adjusting to, researching, seeking support for and sharing your child’s diagnosis *Staying organised and using time and technology well *Achievable ways to look after yourself *Explanations of different professionals and therapy services *Team management, goal setting, individualised programs and measuring progress *Advice for funding and managing funding.

You are your child’s strongest advocate and fiercest protector. For extraordinary things to happen you need to advocate assertively and lead with skill and determination – you need to Become Chief of your special needs tribe.

A grandmother of a teenager with Fragile X, Sharon Davey, has written a book entitled Awesome Careers for Gen Ys: easy strategies to create an amazing career and life.

Aimed at Gen Ys (born between 1980 and 2000) and their parents, this practical yet revolutionary book suggests that the current focus on job titles in career exploration limits what’s possible for young people.

Sharon will be donating 10% of the profits of the book to the FXAA. She is keen to increase the awareness within the community about Fragile X so she has provided a link to the Association from her website and has a page in the book about the Association. Her book can be purchased in bookstores in Australia and New Zealand and also on her website www.awesomecareers.com.au Page 14

September 2015

Fragile X Association of Australia

The Fragile X Association Team

Diary Dates September

Fragile X Member survey

October 24th

FXAA Annual General Meeting, Manly, NSW

November

Christmas Raffle

Janie

Wendy

Liz

Katrina

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

Survey in September!

New !

We’re seeking your input on our current activities and services.

The information you provide will help us set our priorities and areas of focus for the coming years.

Understanding Fragile X. New brochure.

Great for sharing with friends, family, school, your support groups.

Link to Survey: www.fragilex.org.au

Let us know if you’d like copies posted to you.

No charge for these.

New !

Overview of FX. 5-minute version of our DVD. Perfect for sharing on social media!

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 3 days each week: Mondays, Wednesdays, Thursdays.

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

For carers 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.

Stepping Stones gives parents the skills to raise happy, confident children and 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

Companion Card Program The Companion Card is a wallet-sized photo ID card for people who, due to their disability, require lifelong attendant care to participate at most community facilities and activities. Upon presentation of the card at an affiliated organisation, business or event, the cardholder will receive a second ticket for their companion carer at no charge.

The Companion Card is now accepted throughout Australia by a wide range of businesses and organisations such as festivals, Councils, sporting events and venues, tourist attractions and arts and entertainment venues.

Cardholders are regularly using their cards to participate in everyday activities such as going to the swimming pool, the movies, the footy and the theatre; activities that without their companion carer they would be unable to do.

The Companion Card Program is a National Program so cardholders can also use their cards at participating organisations in every State and Territory of Australia.

If you wish to receive more information on the application process, please use the contact details provided on your State or Territory's Companion Card website.

Australian Capital Territory New South Wales Northern Territory Queensland South Australia Tasmania Victoria Western Australia

Phone: (02) 6207 1086 Phone: 1800 893 044 Phone: 1800 139 656 Phone: 13 QGOV (13 74 68) Phone: 1800 667 110 Phone: 1800 009 501 Phone: 1800 650 611 Phone: 1800 617 337

www.companioncard.gov.au

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Fragile X Association of Australia