FX Info newsletter October 2018

October 2018 June 2017 Passion for Sport

Visiting experts Workshops

Research FX Fathersmatters Study Clinical Trial & fun Fundraising Healthcare and ID

FX Awareness in July FX Awareness Month! and news‌ and more more‌...

Olive Photo credit: Daniel Linnet The Kerry Family

Photo credit: Daniel Linnet

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Welcome to our latest newsletter!

It’s the first newsletter in some time, and so it’s full of Fragile X community news and events since the start of the year. Increasing awareness of Fragile X associated conditions has remained a core focus, as early diagnosis and early intervention are always key to the best outcomes, whether it be for Fragile X syndrome, FXPOI, or FXTAS. We’ve continued to pursue opportunities to be in a position to communicate with medical professionals, including students, GPs, genetic counsellors and others who play a role in identifying Fragile X and in supporting families.

Events and fundraisers in 2018 have been a successful way to help raise the funds needed to support the existence of our organisation, to profile Fragile X in the wider community, and to have some fun. Cynthia Roberts, Mike Tozer, Shane Lyons, Nyleta McRae and others have had a busy 2018 in this regard!

The visit by Prof Randi Hagerman to Australia a couple of months ago was briefer than we would have wished but very successful. We are always so grateful to Randi for giving us her time. She spoke at seminars and meetings in Melbourne and Sydney, and some saw children in a clinic setting. The Q&A videos she made for us— now on youtube—have had thousands of views already! (you can find them from our website homepage) Membership of Fragile X Association is an important way you, your family and friends can support the work we do, and it demonstrates the size and reach of the Fragile X community. A few months ago we took the decision to waive membership fees. It was felt that the cost of the membership, and the membership renewal processes, were a barrier for many. So from October 2018, people may join up by completing the online member form on our website. We’ll be in touch each year to check that your member details are still current.

This newsletter is good reading! And I’m looking forward to the next one in December, in time for Christmas!

Wendy Bruce - Executive Officer

Fragile X Achievement Awards 2018. Nominations open!

Each year the Fragile X Achievement Awards celebrate perseverance and personal successes!

The Awards are intended to inspire and encourage the people who are nominated, and their family and friends.

They’re also inspiring for everyone in the Fragile X community!

Past winners have been recognised for their personal achievement across a wide range of areas.

Achievement at work or school, efforts in sport, or in art, in achieving independence, or in building up skills, in supporting other people in the family, or contributing to a community.

To be eligible: Closing date: Winners announced:

The person nominated must be part of the Australian FX community Nominations close Friday 9 November 2018 at 5pm Annual General Meeting, Sunday 11 November 2018

Nominate someone you know for an award — email to wendy@fragilex.org.au with:   

The name of the person you nominate Your full name and contact details Description of their achievements (no more than two paragraphs)

Any questions, contact Wendy Bruce. 1300 394 636 or wendy@fragilex.org.au Page 2

Family Support — Welcome, Liz Our Help Line and Family Support service are an essential part of our role in supporting the Fragile X community.

The Family Support counsellor takes Help Line phone calls and helps respond to email queries and messages from people seeking information or support on range of areas related to Fragile X. For example: queries about diagnosis, testing, support and assessment services for Fragile X syndrome and other Fragile X-related conditions; information for teachers, doctors or family members; and contact from people wanting to connect up with other families who have a child with Fragile X syndrome.

We have been fortunate over the years to have excellent and very committed people in the Family Support role, including Janie Roberts and Amanda Rummery-Hoy. Amanda was with us for more than 2 years, and has recently left after handing over the role to Liz Jewell.

On behalf of our members and the Board, I’d like to say farewell and thank you to Amanda for the counselling and social work referrals she provided to families, and for helping us to raise awareness of Fragile X in the wider community through presentations to disability nurses, child and family health nurses, and special educators.

I extend a very warm welcome to Liz, who brings a great deal of experience in counselling and the disability sector.

Wendy Bruce, Executive Officer

Hello Everyone, I have recently joined the Fragile X Association as the Family Support Counsellor.

The timing of my appointment was fortunate in that it coincided with Dr. Randi Hagerman’s seminars in Melbourne and Sydney several weeks ago and this has enabled me to meet some family members of the Fragile X community.

I’m very much looking forward to supporting families and equally learning from those with personal and professional experience.

Amanda and Liz

I hope to bring value to the organization and our members having previously worked for a range of services in the health and disability sector including Northern Beaches Interchange, CanTeen and the MS Society of NSW. My experience in group and individual counselling stems partly from these organizations as well as Lifeline Northern Beaches.

My work days are Mondays Tuesdays and Thursdays.

Please get in touch if I can help in any way.

My email is liz@fragilex.org.au and the office phone number is 1300 394 636 (cost of a local call).

Ross MacKenzie visiting on the 1st anniversary of our office move from Manly to Brookvale

Liz

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Working with Fragile X Two inspiring stories which were in the media recently about Matt Bowen and Ethan Shepherd.

Christmas Hills Raspberry Farm Café connected with disability employment provider EPIC after they were recommended by a close friend.

Matt Bowen started his career at the Christmas Hills Raspberry Farm Café outside Devonport in Tasmania earlier this year.

“I love everything about my job! My colleagues are great and make me feel very welcome,” says Matt.

“As well as coating raspberries with chocolate, I serve food and drinks to the customers. It feels great to have this job.”

“It’s been great having Matt on-board; he is part of our Raspberry Farm family. We love him and he’s so great for staff morale,” says Lindi. “Working with Matt has made the team happier, and we are now a more inclusive business.”

Matt is proud of how far he’s come, saying his job has given his life a sense of purpose and value.

“My job makes me feel good about myself, as I am now part of a team and a community,” says Matt. “I am always very proud to tell others about my work.”

Reproduced with permission. www.epicassist.org

Matt’s Fragile X syndrome means he is often hesitant to speak until comfortable in a new environment. But café manager Lindi says within a matter of weeks, Matt was starting to open up. “We were so pleased Matt began to feel more relaxed, and started speaking to the team. His first words almost brought us to tears,” says Lindi. “It is a joy to see Matt joining in with staff, laughing, and even singing with Peta while chocolate-coating raspberries.”

Owner Brad Shepherd says the yard care work has been so important for his son Ethan that it had to continue to provide more opportunities for young workers.

"Over the years I got better and better at my job and here I am now!"

For the past three years, 21 year old Ethan Shepherd, who has Fragile X, has worked in gardening and yard care and he says that it's changed his life.

"We want to offer opportunity to grow and advance and our end game is to bring these people through to meaningful work. Rather than relying on the system, to be part of the system, and that's fantastic."

Love Ya Lawn is based in Rockhampton, Queensland. www.loveyalawn.com.au

"I'm more confident, more open to talk to people and making new friends."

A few years ago, community services organisation The Umbrella Network identified a need in the community for young adults with a low level disability to be given job opportunities. What was born was Disability Yard Care, a service that employed young adults and provided them with real life skills and experience. With the closure of the Umbrella Network, it seemed Disability Yard Care would come to an end too, but it's been given a second chance. The parents of one of the young men involved felt it was important to keep the business going - and so Love Ya Lawn was born.

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Ethan being interviewed by Jacquie Mackay from ABC Capricornia.

Article reproduced from

Employable Me is a warm and insightful documentary series which was broadcast by the ABC in April this year. It highlights the huge challenges many people with neurodiverse conditions face when trying to find meaningful work in the mainstream.

Employable Me followed people with autism, OCD, Tourette’s syndrome, and it also followed Marty Campbell, who has Fragile X syndrome. The series drew on experts to uncover the hidden skills and talents of the 9 job seekers, to match them to roles that would harness their strengths.

Employable Me was a huge ratings success!

It had outstanding viewer numbers for the broadcast episodes, and later on ABC iview. The trailers were shared right across social media platforms.

Marty featured in Episode 3, along with Cain and Jessica. Marty’s trailer had over 60,000 views, and the episode had around 430,000 views when broadcast.

This gave huge exposure for Fragile X syndrome and the difficulty people with Fragile X often have in securing The series also won critical acclaim: in October this year meaningful and ongoing employment. Audience interest winning a Reality TV category at the Venice TV awards, in Marty’s story translated into a massive 17,000 hits on and was the sole Australian winner. the Fragile X website on that one night!

Series 2 of Employable Me? In production right now for the ABC by the team from Northern Pictures.

Marty on camera at home for his episode

We extend a huge thanks to Marty, his mother Robyn Iredale and his entire family for accepting our invitation to participate in this amazing opportunity to profile workplace inclusion and Fragile X. Marty and Northern Pictures team members at the series premiere Page 5

John Cunningham, Dr Randi Hagerman

Dr Sam Bolitho, Dr Stephen Tisch, Dr Randi Hagerman, Prof Ted Brown

Supported by:

Sydney photo credits: Daniel Linnet, Linnet Foto

Dr Natalie Silove Dr Randi Hagerman, Mike Tozer, Helen Tozer

Dr Randi Hageman, Prof Martin Delatycki Dr Hagerman, Prof Gill Turner, Jackie Boyle Dr Randi Hagerman, Dr Claudine Kraan

Dr Randi Hagerman, Wendy Linnet

Dinner in Sydney Page 6

Supported by:

It was a privilege and a pleasure to host Prof Randi Hagerman during her recent visit to Australia!

Dr Randi Hagerman had planned a visit to Melbourne for a conference and research work and kindly agreed to extend her visit to in order to give presentations and to participate in meetings for us in Melbourne and Sydney.

We are grateful to Zynerba for providing us with some grant funding to cover costs associated with the seminars.

The Latest on Fragile X — Melbourne

New FXTAS clinic — Melbourne

Dr Hagerman was the keynote speaker at our evening seminar at the Royal Children’s Hospital. More than 60 people attended, including families, genetic counsellors, researchers, medical students and several teachers.

While in Melbourne Dr Hagerman formally opened the new FXTAS clinic which is within the Cerebellar Ataxia clinic at Caulfield Hospital (AlfredHealth). The clinic is run by Dr David Szmulewicz. Prof Ted Brown and Wendy Bruce (Fragile X Association), together with Dr Jonathan Cohen, Dr Danuta Loesch and Prof Elsdon Storey also attended the clinic opening. The clinic will take patients who have FXTAS, or at risk of developing FXTAS. A GP referral to Dr Szmulewicz is required.

Prof Martin Delatycki of Murdoch Children’s Research Institute opened the seminar by welcoming Dr Hagerman. He gave a very informative presentation on Mackenzie’s Mission, the federal government’s genetic carrier screening trial which will commence in 2019. The project will screen around 10,000 couples across Australia for Fragile X, cystic fibrosis, spinal muscular atrophy and 500 other genetic conditions.

Dr Claudine Kraan (MCRI) gave an overview of the FREE FX Study and the work of the Cyto-molecular Diagnostics Research Group. The FREE FX study is a research study involving individuals with Fragile X syndrome and several other disorders. It aims to research and develop novel laboratory methods to assist with more sensitive and accurate diagnoses for these disorders. Dr Kraan also spoke about the team’s projects, which include prevalence estimates for Fragile X in 100,000 Australian newborns, and health economics reporting for Fragile X and chromosome 15 imprinting disorders. She spoke in particular about her current study on gait analysis in children with neurodevelopmental disorders, and then thanked all the FX families who’ve been involved in the group’s research work.

The Latest on Fragile X—seminar in Sydney Dr Hagerman was the main speaker at our evening seminar held at the Garvan Institute of Medical Research in Darlinghurst. Around 90 people attended the seminar, including families, geneticists, genetic counsellors, some medical students and several allied health professionals.

Dr Hagerman’s presentation focussed on the latest on diagnosis, treatments and medications in Fragile X syndrome and the Fragile X premutation. She spoke in some detail about health issues which can affect premutation carriers, including neuropsychiatric and a range of other symptoms. She spoke about FXTAS , covering diagnosis and presentations.

A/Prof Natalie Silove (Children’s Hospital at Westmead) presented on the current controlled clinical trial for ZYN002, a cannabidiol product applied as a transdermal gel and being studied to determine whether it is helpful for some Fragile X symptoms such as anxiety.

Dr Jonathan Cohen from Fragile X Alliance and Genetic Clinics Australia presented on FXPOI and carrier testing and screening.

Many thanks to the Garvan for providing their excellent facilities for the seminar, to Dr Natalie Silove for the update on the Zynerba tiral, to Daniel Linnet for taking wonderful photos, and to the Masters of Genetic Dr Hagerman presented on the latest on treatments Counselling students from University of Sydney who in Fragile X syndrome, the latest on FXTAS, and on the assisted us on the night. Particular thanks to our special newly coined term FXAND (Fragile X-associated guest Prof Gillian Turner for travelling from Newcastle for Neuropsychiatric Disorders) which can affect around 50% the seminar. of premutation carriers, many more than are affected by FXPOI and FXTAS. She also covered preventative Q&A with Dr Randi Hagerman health issues for carriers, and the importance of Short videos: maintaining health and wellness.

Living with Fragile X Many thanks to Prof Delatycki, Dr Kraan and Dr Cohen for taking part in the Fragile X seminar.

Health concerns & wellness for premutation Targeted treatments for Fragile X syndrome Page 7

Research Matters FXTAS Research Study College of Science, Health and Engineering SCHOOL OF PSYCHOLOGY AND PUBLIC HEALTH Department of Psychology and Counselling

Ongoing study seeking pre-mutation carriers of Fragile X Dr Danuta Loesch and her team have been conducting research studies on various aspects of Fragile X-related conditions for three decades.

Dr Loesch is currently working on an ongoing study seeking to understand why some premutation carriers develop FXTAS or related neurological problems, while others do not. The study involves the National Institutes of Health-supported research team from UC Davis led by Prof Randi Hagerman, and also involves Prof Elsdon Storey.

Dr Loesch is inviting male premutation carriers (who are 50 years of age and older), with or without FXTAS symptoms, and female premutation carriers who have been diagnosed with FXTAS or experience relevant neurological problems, to participate in the research.

Taking part in the study involves collection of a blood sample, neurological and neuropsychological assessments, and MRI testing. The testing is free of charge. A specialist’s advice or genetic counselling for other relatives will be provided if needed. The research study and testing are conducted at the Bundoora campus of La Trobe University.

Travel and expenses for overnight accommodation in Melbourne will be reimbursed. If a participant is unable to travel, Dr Loesch and her team can travel within Victoria or New South Wales (including Sydney) to visit a participant in their home environment.

For more details, contact: Dr Danuta Loesch (03) 9458 4014 or 0407 678 145 or d.loesch@latrobe.edu.au, or Dr Penny Hartmann (03) 9479 2329

Invitation to take part in a research project A research project looking at walking patterns in children with Fragile X syndrome and their siblings is now underway at the Murdoch Children’s Research Institute in Melbourne, and the project team is seeking children that are ≤18 years old to undertake a short appointment (30 mins for children with Fragile X and 1 hour for siblings).

The project is being run by Dr Claudine Kraan, under the supervision of Dr David Godler. The results of the study are intended to lead to early diagnosis of Fragile X and inform clinical professionals on providing more personalised treatment options for children and their families.

The walking study is linked to the larger FREE FX study that involves more comprehensive cognitive and behavioural assessments being conducted by the cyto-molecular diagnostic research group at Murdoch Children’s Research Institute.

Tw Dr Claudine Kraan PhD For more information about this study, please contact Claudine on 03 9936 6040 or email claudine.kraan@mcri.edu.au

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FXTAS

New FXTAS clinic—Melbourne FXTAS Clinic Caulfield Hospital 260 Kooyong Rd, Caulfield Fridays 9am-1pm Phone: 03 9076 6800 GP referral to: Dr David Szmulewicz At the opening of the clinic on 31 August 2018 Dr David Szmulewicz, Prof Randi Hagerman, Dr Danuta Loesch, Prof Elsdon Storey

About the clinic: In addition to assessing and managing people with Fragile X-associated Tremor Ataxia syndrome, the clinic has a research focus, broadly aimed at improving the assessment and management of FXTAS. The clinic is supported by allied health staff (physiotherapists, occupational therapists, speech pathologists, neuropsychologists, etc).

A volunteer from the Cerebellar Association (support group) is also available during clinics.

The clinic is a member of the International FXTAS Consortium of clinics and researchers, an initiative founded by National Fragile X Foundation, the MIND Institute UC Davis and Fragile X Association of Australia.

Dr David Szmulewicz is an Australian Neurologist, Neuro-otologist and medical researcher. David holds a PhD from the University of Melbourne and his clinical and research interests include work aimed at gaining a deeper understanding of how FXTAS may affect patients As part of attendance at the clinic, in addition to seeing a as well as future treatment options. David undertook his specialist neurologist, a patient may also see a specialty cerebellar training with Prof Elsdon Storey and physiotherapist and a speech pathologist, all of whom are currently collaborates on research into FXTAS with experienced in helping people with the various medical Prof Storey and Dr Danuta Loesch, both of whom are issues that might be a part of FXTAS. internationally well known FXTAS researchers.

FXTAS clinic — Sydney

FXTAS Clinic Movement Disorders Clinic 390 Victoria St Darlinghurst Last Monday of a month 2:00pm-4:00pm Phone: 02 8382 3115 At the Latest on Fragile X seminar in Sydney, 3 September 2018 A/Prof Stephen Tisch, Prof Randi Hagerman, Dr Sam Bolitho

About the clinic: Now in its third year, the FXTAS clinic operates within the Movement Disorders Clinic at St Vincent’s public hospital in Darlinghurst, and is open on the last Monday of each month, from 2pm.

The establishment of the clinic was initiated by the Cunningham family, who are long-term supporters of Fragile X Association of Australia.

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GP referral to: Dr Stephen Tisch

Patients may be seen by Dr Sam Bolitho or Dr Stephen Tisch. A GP referral is required, and the cost will be covered by Medicare.

Bookings may be made through the clinic directly or via Fragile X Association: call 1300 394 636 or email support@fragilex.org.au

Clinical Trial in Australia A clinical trial has commenced in Australia, New Zealand and the United States studying an investigational drug named ZYN002, which is produced by Zynerba Pharmaceuticals, a US-based pharmaceutical company.

The drug is a pharmaceutically produced CBD, a non-psychoactive cannabinoid, which is applied as a gel to the skin.

This is a placebo-controlled trial named CONNECT-FX. It follows a smaller trial conducted in Australia in 2017, and aims to determine whether ZYN002 can help manage some common behavioural symptoms associated with Fragile X syndrome, such as anxiety.

Children with Fragile X syndrome aged between 3 and 17 may be screened for participation in the trial.

Trial sites are in Melbourne, at the Fragile X Alliance clinic, in Sydney at Westmead Children’s Hospital, and in Brisbane at the Lady Cilento Children’s Hospital.

The trial is also being conducted in New Zealand and at a number of sites in the United States.

For more information see the Zynerba Pharmaceuticals website: https://zynerba.com/in-development/

Photo credit: Luis Ascui, Fairfax Media

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Genetic Counselling Hello again!

My name is Jacintha Luermans and I recently graduated from the Master of Genetic Counselling course, which is a two year program I completed at the University of Sydney. During this time I have also spent some time volunteering at the Fragile X Association of Australia. The course had a large theoretical component during which experts in the field of genetics provided us with the most up to date information. In addition, there were counselling modules which taught us the necessary skills to communicate complex genetics in a way people can understand, to listen to every family’s unique story, to guide informed decision making and also enable us to be a patient advocate by understanding the needs of people impacted by a genetic condition. A genetic counsellor can essentially provide an ear, a shoulder, an eye or a voice – whatever is required!

Katrina, Jacintha, Wendy at Jacintha’s end-of-course Capstone presentation

During the two years of the course, I have undertaken clinical placements with qualified genetic counsellors at various genetic services across Australia and in the Netherlands. And I have recently taken up a genetic counselling position in sunny Brisbane.

Every student conducts a research project during their two year Masters degree. For my project I teamed with the NSW GOLD Service and the Fragile X Association of Australia to explore the experiences and information and support needs of fathers of children with Fragile X syndrome. This was to be a two-part project – part one (my project) were telephone interviews and part two is an online questionnaire (which is in the process of being developed by the GOLD Service).

I presented my research findings in a research dissertation and during a Capstone presentation for the Masters of Genetic Counselling students in November 2017, which was attended by Wendy Bruce and Katrina Weir, as well as many genetic counsellors and geneticists. The project has sparked huge interest in the genetic counselling community and we are very much hoping to publish our findings in a scientific journal so that genetics professionals worldwide may gain further insight into the experiences of fathers and how we can better support them and their families through the Fragile X diagnosis and beyond.

I would like to thank the Fragile X Association of Australia for allowing me to spend some time with them and for promoting the study amongst you, its members. The experience has been very enriching, rewarding, humbling and inspiring – I have learnt so much about a condition I knew relatively little about.

I hope the research findings will help to inform and improve current genetic counselling practice and policy and ultimately mean families of children with Fragile X syndrome can be better supported.

I also hope to have made a positive contribution to the wonderful work the Association does for its members.

The title of Jacintha’s study is Experiences of Fathers of Children Diagnosed with Fragile X syndrome

Introducing Fragile X to Master of Genetic Counselling programs Being involved at a project or presentation level with Genetic Counselling students is an effective way to develop knowledge of Fragile X-associated conditions amongst the people who will be so involved in the early stages of a diagnosis of Fragile X. We are pleased to have been invited by UTS in Sydney to provide speakers for a “Meet the Expert” session on Fragile X during the early part of a new Master of Genetic Counselling course which is set to commence at UTS in February 2019.

The course will be accessible to students in and outside of Sydney, delivered in blocks on campus and also providing live and online classes. The “Meet the Fragile X expert” session is set for 12 April 2019, and I have invited two parents who have children with Fragile X to join me in presenting to the students. We’re actively looking to participate in Masters of Genetic Counselling courses on other campuses around the country.

Watch this space!

Liz Jewell Family Support Counsellor Page 11

Albury Thunder hosts 2018 charity day for Fragile X Reproduced from: Albury-Wodonga Border Mail, 10 August 2018

“WHEN rugby league convert Greg Mosbey first joined the Border fraternity he had only one condition. “If you want me to watch this game, you need to teach me the rules!”

There is no cure or treatment for FXTAS, which was often mistaken for Parkinson’s disease. Two of Greg’s brothers – aged in their 60s – also have been diagnosed with FXTAS. Debbie said genetic counselling revealed Born and bred in AFL heartland, in the Melbourne suburb their male offspring wouldn’t be affected by Fragile X of Richmond, Greg, wife Debbie, of Myrtleford, and sons syndromes.

Matt, then 2, and Chris, 3 months, moved to the Border almost three decades ago. By age five, Matt started “We got three boys and that was just meant to be,” she playing rugby league, followed soon after by younger said. “We are lucky with the boys and their girlfriends; brothers Chris and Joel. The code gained their respect we’ve been blessed with the three best girls.”

On Sunday Matt, 29, Chris, 28, and Joel, 24, and their and later Albury Thunder their hearts. respective girlfriends Kate Raymond, Stephanie Lunt and On Sunday (12 August) the extended family at Greenfield Cassie Martin will challenge Albury Lightning in a charity Park will rally around Greg when it hosts a charity day to match from 10.20am.” raise awareness about Fragile X and related disorders such as Fragile X Tremor Ataxia syndrome (FXTAS).

They will play in a jumper designed by Greg.

Greg was diagnosed five years ago with FXTAS, a First grade and neurodegenerative disease associated with male carriers reserve grade of Fragile X syndrome over the age of 50. players will also wear the charity Greg, now 56, first noticed a tremor in his finger in his jumpers.” late 40s, his balance was off and his carefree disposition had changed. “My balance was not as good as it used to be,” he said. “People were pushing my buttons in a way that would have never happened before.”

Diagnosed with FXTAS, Greg has ataxia, tremors and cognitive issues, making many daily tasks difficult. He had to give up his job three years ago and handed in his driver’s licence in November. “I wanted to work but I had a couple of falls and I found I couldn’t,” he said.

The National Disability Insurance Scheme has rejected his application for support.

Greg and his sons—ready!

Game Day was Sunday 12 August Great matches, and Albury Thunder put on an awesome performance! Fragile X logos and orange wristbands worn proudly! Lots of fun, and Greg and Debbie and their family had a terrific day.

Huge thanks to Albury Thunder for supporting Fragile X Association through this charity day: $1500 raised and a great awareness campaign in the local Albury Wodonga community.

Game day photo credits: Kathryn Mitsch Photography

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Fundraising challenges!

The Bridge to Beach is an annual 11km ocean paddling race across Sydney Harbour from Blues Point, under the Harbour Bridge, to Manly Cove. It’s the final race in the Australian Open Racing Series. While this year the weather was not quite what we’d ordered—blustery and damp! - almost 400 paddlers made the dawn start at Blues Point on Sunday 25th February. The conditions on the water were fine though and the race was won by Mackenzie “Macca” Hynard.

Our fundraising challenge was to raise $10,000 which would then be matched dollar for dollar by the Shaw and Partners Foundation. Thanks to the generosity of the paddlers who made a donation as part of their race registration and to some supporters in the Fragile X community, we hit the target at the 11th hour!

Mackenzie Hynard, Graham Hook, Earl Evans

Our thanks again to Oceanpaddler’s Dean Gardiner, Sherene LaGasse and Yanda Morison. And many thanks to Earl Evans, Co-EO of Shaw and Partners, for pledging that the Shaw and Partners Foundation would once again match the funds raised.

Passing on the paddle…. After 5 years as our Bridge to Beach ambassador, Luke Ratcliff has retired gracefully, and handed this particular paddle honour over to Macca Hynard, the Bridge to Beach 2018 winner. Looking forward to seeing Macca as our race ambassador in February 2019!

Mackenzie Hynard with Robyn Iredale at Manly Cove

Taking up the Challenge for Fragile X! Dave Ward smashed one of the ultimate stair climbing challenges…

7,300 stairs at the MCG Stadium Stomp on 22nd July!

Taking it on for Cooper-Jess.

Mike Tozer snatched 1st place in the 10km leg of the Manly Fun Run. Second year in a row!

Taking it on for Josiah.

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Outdoor Concert at Dixon’s Creek for Fragile X Dixon’s Creek in Victoria is north east of Melbourne. Each year the local community gets together for an outdoor concert and fun family day —it’s a great get together and a fundraiser for charities with a connection to the community. Late last year Neil and the concert organisers chose us as their fundraising charity, as young Lachie has Fragile X syndrome.

It was a fabulous sunny day, with around 170 people there, and lots of fun had by all. An astonishing $5,800 was raised, and it was a wonderful way for the Dixon’s Creek neighbours to learn more about Fragile X. Many thanks to Michelle Toth for proposing us as the concert charity.

Lachlan

Annual Open Garden Community Fundraiser

Trish and Graham Piper have a wonderful garden in Glenorie, in the Hills district of Sydney. They are keen gardeners and members of the Galston District Garden Club’s annual Open Gardens event which is a fundraiser for local community groups and for Fragile X. Their garden was open again on 19-21 October, and members of the local masonic lodge volunteered on the day to help sell entry tickets.

Trish & Graham have a family connection with Fragile X as James Hook is their great nephew. Thank you to the Galston District Garden Club for their continued support of Fragile X Association, and to Masonicare which has agreed to once again match the funds the Association will receive from the Open Garden event.

Fashion for Fundraising In Sydney the Manly Chamber of Commerce annual charity Fashion Parade was in support of Fragile X this year! Around 130 Manly locals were there on the night, enjoying fashion, a raffle and raising an amazing $5,000! Many thanks to the local Manly retailers for supporting the event, to the raffle ticket sellers (Jane, Christina, Vanessa and Wendy) and to Christine Kelleher who gave a short and powerful speech about living with Fragile X and the need for family support.

Chantelle & Stacey from Manly Business Chamber did a great job hosting the evening.

So it was a fun night, a successful fundraiser, and great way to raise awareness of Fragile X in the local community.

Chantelle & Stacey

Jane Rodgers—raffle winner!

Christine Kelleher, Audrey Carnell

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Photo credits: Owl Vision Photography

Another Fabulous High Tea in Launceston Shane Lyons organised and hosted a High Tea for 130 people in July, as part of Fragile X Awareness month. Lots of fun on the day with a silent auction and raffle prizes. And lots of fun in the leadup auctioning off two signed AFL jerseys! Henry and Anna, Tasmanian truffle farmers from My Kitchen Rules, were special guests. Ben Gower sure was happy to meet them!

Huge thanks to Shane, Jessica and Millicent Lyons, Jo Ryan, Ben Gower, Maureen Smith and Kate Stokes for organising the event and its promotion, and for getting so many people involved. The High Tea, including the raffle and auctions, raised an astonishing $4,500 for Fragile X Association.

The Launceston Examiner published a couple of great stories on Fragile X, alongside the High Tea and the lighting up of the Town Hall.

Any

ques-

Jo Ryan and Ben Gower

Movie night!

Kitty Stokes organised a fun night at the Star Theatre, a beautiful art deco theatre in Launceston for Fragile X. Orange ribbons, a glass of sparkling, lucky door prize and a raffle. And of course a great choice of film: The Breaker Upperers.

Thanks to everyone who went along in support, and made generous donations!

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www.specialolympics.com.au/

Enjoying the National Games in Adelaide!

Kieran Kelleher Basketball, NSW James Hook Basketball, QLD Marty Campbell Tennis, NSW

Sp tion

Going for Gold, again!

Nicole Hill is from Gawler in SA, and is a very keen bowler!

Nicole followed up the 2 gold medals she won at the 2017 National Games with two more golds in 2018.

Nicole’s medals this year are for team bowling with Team SA, and a doubles win with her bowling partner Kellie Martin.

Congratulations Nicole!

James Hook at the official reception for the National Games, held at Kirribilli House in Sydney. James met Mike Baird, former Premier of NSW and long-time friend of Fragile X.

Special Olympics National Games 2018 a Huge Success The National Games were held in Adelaide this year, in June. The excitement started to build from the moment we received the official letter informing us that Kieran had been selected for the National Games in basketball, representing NSW. Having been to the previous two national games he had pinned his hopes on being picked again!

It was a great week for not only the athletes but also the families. The opening ceremony was spectacular, with over 1000 athletes marching accompanied by 800 volunteers. Many social events were held in the evenings during the week.

The Games had a wonderful atmosphere, and whilst the athletes all stayed on campus there was plenty of opportunity for the parents to interact with them and cheer them on. It was fantastic to see some athletes from the wider Fragile X family, including James, Marty and Nicole. It was an exhausting but most successful week!

If any families are thinking of involving their children in Special Olympics I can certainly recommend them to ‘give it a go’. Special Olympics welcomes anyone with an intellectual or other disability, which fosters inclusion, mateship, and team spirit and encourages independence.

by Christine Kelleher

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Photo Exhibition Rick Guidotti is a New York-based photographer who uses visual art to celebrate beauty in human diversity, and the dignity of individuals living with genetic, physical, behavioural and intellectual differences. Rick exhibits internationally, and his first Australian photo exhibition Redefining Beauty was presented in July on the Sunshine Coast at the Sunshine Plaza shopping centre.

The photographs featured 30 children and adults affected by rare genetic conditions photographed at a range of Sunshine Coast locations, and several Fragile X families were involved, including the Mitch Runcie, the Joha brothers, and Miles.

To celebrate Fragile X Awareness in July, Marlene Brightwell and the exhibition organisers provided our orange lapel ribbons and our Understanding Fragile X brochure to everyone who attended.

A highlight of the exhibition was a solo dance performance by Mitch Runcie. ‘Present-ing Fierce’ is Mitch’s first full length performance and the outcome of a mentorship that Mitch has undertaken with choreographer, performer and movement educator Fiona Rachel Bryant and dance Rob McCreddie.

Jacintha and Mitch with his photo portrait!

Jacintha Luermans went along to the exhibition and met up with Mitch, who was amazed to hear of her connection with Fragile X! The exhibition won a Community Award at the Shopping Centre Council of Australia Marketing Awards in early October. www.positiveexposure.org

Unique FX

Jeremiah has been working hard on a logo design for tshirts, to acknowledge the uniqueness of Fragile X in support of his younger brothers.

We’re looking forward to seeing his final design, and it will be a great way to raise awareness of Fragile X next July!

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Festival of Orange!

Right across Australia, July was marked as a month to get the word out Throughout July there many activities, including a Family Community Day in Brisbane at Captain Burke Park, lighting up bridges orange, another huge High Tea in Launceston, a family picnic in Sydney, a movie night in Adelaide, a fashion show fundraiser in Sydney, stories in the press, Fragile X days at primary and secondary schools. All of this and many likes and shares of photos on social media. Plus our orange wristbands were everywhere—even in Texas!

Thank you to everyone who was involved.

Some special mentions: Nyleta McRae, Candy Stingel, Shane Lyons, Kate Stokes, Dave Ward, Bianca Ward, Graham Hook, Margaret Tappert, Damo and Elaine Hoole, Katherine Brown, Jo Ryan and Ben Gower.

Launceston Town Hall

Brisbane’s Story Bridge

Brisbane

Newcastle

Wingham High in NSW: Damo and the teachers went orange for a day!

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Fragile X Disorders: Don’t Miss Them Increasing awareness of Fragile X in the medical community across Australia Increasing awareness and understanding of Fragile Xassociated conditions in the medical community continues to be an important priority for our organisation.

Early diagnosis of Fragile X syndrome, FXTAS and FXPOI provides the opportunity for early intervention and early treatments for the best outcomes. It is still the case that Fragile X-associated conditions are not always identified as early as they could be: “frequently underrecognised and often misdiagnosed.“ 1 Our approach to increasing awareness is encapsulated in the title of an article written for GPs in 2017.

Fragile X Disorders: Don’t Miss Them 1 is a comprehensive article written by Dr Rachael Cvejic (nee Birch), Prof Julian Trollor and Dr Jonathan Cohen.

It takes the position that general practitioners “have a central role in the identification, treatment and coordination of complex care needs of patients with, or at risk of developing, fragile X-associated disorders and potential medical and psychiatric comorbidities.”

As part of our ongoing awareness campaign this article has been provided to thousands of GPs and other health professionals over the past 15 months. This is done through our regular presence at Healthed conferences in Adelaide, Brisbane, Melbourne, Perth and Sydney, via the Fragile X page on the ThinkGP education portal for GPs, to medical students at UNSW and at other opportunities we identify to get the message across.

We would like to thank all of the health professionals who assist us in profiling Fragile X-associated disorders at conferences and seminars, including Prof Rod Baber, Prof Graeme Suthers, Dr Alison Archibald, Dr David Godler, Dr Claudine Kraan, Dr Jonathan Cohen and Dr Michael Gattas.

Shelley and Nylete McRae A HUGE thanks must go to the volunteers from the Fragile X community of families and our Board members who commit their time to be on the Fragile X information stalls at these events in the various cities.

1

Fragile X-associated Disorders: Don’t miss them, Australian Family Physician, Vol 46, No 7, July 2017. p4587-491.

AFP is the journal of the Royal Australian College of Physicians and the article is available in full on their website: www.racgp.org.au/afp/2017/july...

Mandy Barker Mischa O’Donnell

Shante Sweeney

Prof Ted Brown, Wendy Bruce

Sharon Davey, Kate McKeand Page 19

Bronwyn Kelleher, Mary Wilson

Registered office of Fragile X Association of Australia Inc Suite 204 20 Dale Street Brookvale NSW 2100 02 9907 2366 ABN: 18 655 264 477

We offer

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1300 394 636 ARBN: 626 478 966

Help Line 5 days per week Family support and counselling Information days and Workshops Educational videos about Fragile X

Information resources Raising awareness of Fragile X conditions Website Facebook groups

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If we can help with information, contacts or support: (cost of a local call) or email support@fragilex.org.au

1300 394 636 Our team

Laura Patel Bookkeeper

Liz Jewell Family Support Counsellor

Wendy Bruce Executive Officer

In the office on Friday laura.patel@fragilex.org.au

In the office on Monday, Tuesday, Thursday. liz@fragilex.org.au

In the office Monday—Friday wendy@fragilex.org.au

Your tax-deductible donation will help us to support families impacted by Fragile X and to raise awareness of Fragile X conditions Donation options:  Regular donations  One-off donations  Workplace giving programs

If you can to help support us by fundraising, please get in touch! www.givenow.com.au/ Page 20

wendy@fragilex.org.au