FX Info newsletter March 2019

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March 2019 June 2017 Our 30th Birthday! Passion for Sport Workshops Back at School FX Fathers Study Dancing for FX Clinical Trial Medical Matters Healthcare and ID

FXand Awareness more ‌ Month!

Ross & May Photo credit Daniel Linnet

In this newsletter we have some great family stories, a focus on “back at school” information resources for teachers, and coverage of some fun events that have raised awareness of Fragile X.

on genetic carrier screening for these three conditions; many thanks to Victorian Clinical Genetics Service for helping produce the brochures.

Some new initiatives are underway for 2019. Prof Ted Brown and Liz Jewell will lead an online interactive presentation to genetic counselling students on the genetic and family perspectives of Fragile X. FXAA has partnered with SMA Australia and Cystic Fibrosis Community Care Victoria to produce brochures

The Board members, Liz and I are looking forward to another great year of providing support to the Fragile X community, and making sure there is a continued focus on Fragile X conditions in the health, education and disability support sectors.

FXAA will have a very visible presence at the SourceKids Disability Expo in Melbourne later this month, with There’s an update on the FXAA campaign to increase Liz and Kate McKeand attending our stall and hoping to knowledge of Fragile X in the medical community through catch up with any FX families attending the Expo. a range of conferences. Several opportunities to participate in research studies are profiled in this edition, FXAA has two special Fragile X family short including a continuation of the Zynerba study of the documentary films under production and we can’t effectiveness of a CBD gel helping with some of the wait to share them. symptoms of Fragile X syndrome in children, and a A Fragile X community survey will help build a better continuing study in Melbourne by Dr Danuta Loesch on understanding of the makeup of the Fragile X premutation carriers. community and the family support needs. David Cox-Taylor shares his experience in working with the Australian Film Television and Radio School, Planning is underway by Liz and the “30th Focus Group” where he has been employed for 25 years! There’s also to celebrate the 30th Anniversary of FXAA as a national a report—and fabulous photos—from the inaugural organisation. More about the history, and the Ballarat Dance Awards, an event which raised contribution of the extraordinary Fragile X families awareness of Fragile X in the Australian ballet involved over the years, in the coming newsletters! community in honour of Jimmy Jones.

Wendy Bruce Executive Director Fragile X Association of Australia Inc To acknowledge this fantastic milestone activities and events will run online during Fragile X Awareness month in July and right throughout 2019

We would love to hear from anyone who would like to share a memorable experience, story or image for our social media! Contact: support@fragilex.org.au

Short film clips featuring families and children dancing , jumping on trampolines and having family fun! Get your dancing shoes ready! More info on our website and social media soon.

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Share your ideas for celebrating 30 years supporting the Fragile X community, or get involved! Contact Liz Jewell: liz@fragilex.org.au

Professor W Ted Brown MD joined the Board of Fragile X Association of Australia in 2018, and was elected President of the Board at the 2018 Annual General Meeting. Ted is the recently retired Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, New York. Upon retiring, moved to Sydney and married paediatrician Dr Jacqueline Small, who runs a clinic for children with developmental disability. Ted has an appointment as Visiting Professor at the University of Sydney. Much of Ted’s 35 year research career has focused on Fragile X syndrome and on autism. Ted was the first to describe a relationship between autism and the Fragile X syndrome. Ted’s team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X, and subsequently have provided prenatal diagnosis for more than 1,400 known carriers. His laboratory has developed a sensitive antibody test to quantify the Fragile X protein levels in blood spots. His clinic was a participant in the Fragile X drug trials sponsored by Seaside, Novartis and Roche. Ted follows developments in the Fragile X research area very closely. He has recently re-convened the Fragile X Association Scientific, Clinical and Research Committee which has quarterly video conference meetings. These meetings are a forum for Australian researchers and clinicians and Fragile X Association to share information about research studies, trials, and developments and Fragile X community perspectives. Ted is also involved in the Carrier Screening group FXAA participates in, together with SMA Australia, Cystic Fibrosis and representatives from the Victorian Clinical Genetics Service.

My primary role as Family Support Counsellor is to provide support, information and referral for the Fragile X Community, via phone, online, or face to face contact. My main focus being individuals and families living with Fragile X, as well as service providers, and health professionals. I’m also coordinating some of the activities related to the 30th birthday of Fragile X Association, working with a great team of volunteers including Vanessa Lindsay, Nyleta McRae, Graham Hook, Kate McKeand, and Rosie Donald! My office hours are Mon/Tue/Thur. Please contact me if I can be of help. Email: liz@fragilex.org.au or call 1300 394 636 (cost of a local call) Liz Jewell, Family Support Counsellor

Liz and Rosie

To help us better understand where in Australia the Fragile X community is located, what services you and your family are accessing, and what your needs are, we plan to run a survey this year. We’re also keen for Fragile X Association of Australia to have a better understanding of how many people are impacted by FX-related conditions, such as FXPOI, or FXTAS. We plan to run short surveys, which could be completed online, by post, or by phone. Stay tuned for more detail. Page 3

Caron Casey is keen to share Oliver’s experience at school, and the fantastic gains he has made over the past 12 months or so! Oliver has had behavioural and learning difficulties and found his early years at school very challenging. Olli has several diagnoses, including ASD and Fragile X pre-mutation. Olli found the classroom environment overwhelming, and meltdowns were the result, making it difficult for Olli, his classmates and his teachers. The school has worked hard to understand Olli’s learning styles, strengths and challenges, and to put the appropriate supports and strategies in place. Videos and other resources by Dr Marcia Braden, including those available on the FXAA website and youtube channel, were helpful in suggesting strategies for supporting Olli. Olli is now mainstreamed, with supports, and is able to attend school fulltime. He was recently voted 2019 Year 1 representative for the school leadership team! And on the home front, Olli has had the confidence to start his own little recycling business.

Oliver Casey

Oliver’s family is very proud of his achievements, and thank Oliver’s school principal and teachers at Goulburn Public School for the support that has made such a difference.

Kate joined the Board of FXAA in 2018. Kate is a disability advocate and mother of two children who have Fragile X full mutation. She is based in Melbourne and is a director of a consulting organisation that specialises in supporting and empowering participants in the National Disability Insurance Scheme. Kate has represented families of children with disabilities on a number of consumer and advocacy bodies, and has presented at a wide range of forums on inclusion of people with disabilities, disability supports and NDIS. Originally an environmental engineer, Kate has experience working in board and management roles in the not-for-profit, government and consulting sectors. Kate loves yoga and the Australian bush, and is attempting to establish a sensory garden at home with the help of her children and husband Stuart.

Podcast coming soon: Tips for FX families on self-managed NDIS packages Navigating and organising a NDIS self-managed funding package for a child can be challenging. It can be complex, even overwhelming, and lots of families have questions about the best way to do this. Our Board member, Kate, has had experience in self-managing funding packages for her own children, and providing some information and guidance to other families. Kate recently did a podcast for another organisation, sharing her knowledge and tips on navigating the processes. Kate has offered to do a webcast or podcast for us, which we will set up and share in the coming months. Keep an eye out in our Fragile X Association Facebook discussion page or website for details, and for the opportunity to put forward some questions. We’re keen to hear what questions you have around self-managed NDIS packages. - Liz Jewell

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The first term of school is well and truly underway! Do your child’s teachers need some help or guidance on how best to understand your child’s learning style and the supports they may need? There are some great online resources that will help.

National Fragile X Foundation (US) The NFXF website has many resources for parents and teachers. https://fragilex.org/living-with-fragile-x/life-strategies/resources/

Fragile X: Introductory Guide to Educational Needs www.fragilex.org.uk/booklets

Dr Marcia Braden is an educational psychologist and special educator who has worked with children with Fragile X and autism for many years. Dr Braden is an expert in learning and behaviours in children and adults with Fragile X syndrome, and has written many articles on these topics, which can be found on the NFXF website and on her own website: marciabraden.com The Fragile X Australia youtube channel has some excellent videos filmed during Dr Braden’s visits to Australia. https://bit.ly/2Jb6Mmm Q&A with Marcia Braden: Education and Behaviours in Fragile X Supporting the Fragile X Learning Style: Strategies for Success Daily Living Strategies and Successful Supports for Children and Adults with FX


Don’t force eye contact




Expect inconsistency


Prepare for transitions


Students are “simultaneous” vs “sequential” learners


Work with an OT knowledgeable about sensory integration and embed S-I strategies into the school day


Allow and/or encourage frequent breaks


Notice environmental triggers


Verbal expression is cognitively taxing


Know FXS strengths

This “Top 10 Things” list is an extract from an article by Laurie Yankowitz, Ed. D on NFXF website, reproduced by Fragile X Association of Australia with her kind permission. Download a copy of the full 1-page “Top 10 Things” from our website: www.fragilex.org.au Page 5

David Cox-Taylor joined the Australian Film Television and Radio School (AFTRS) at Moore Park, Sydney, at the age of 17 as a trainee and has since worked as a member of staff for over 25 years. David goes about his daily tasks, which include distributing the mail and sorting books in the library, with confidence. His Supervisor Nicky points out “Everyone benefits from having David as part of the team.” When asked about what it is that he enjoys most about his job, David’s face breaks into a gentle smile and he replies “the people, and spending time in the library.” He goes onto say that “he feels less stressed when at work.” Working 5 days a week requires commitment and David is forever punctual, catching public transport to and from his workplace. He’s so committed that Nicky adds “David loves working here and hates going on holiday!” When David is away, the AFTRS staff really notice. He certainly is well loved within the organisation.

JobSupport is an employment agency which specialises in matching people with intellectual disability with job opportunities. The team has been careful to place David in a work environment where his strengths can shine and where his contribution is valued. David is in regular contact with his Vocational Training Officer from JobSupport, Rob, and this, together with supervision from various members of the staff at ATRS, ensures David’s work day runs smoothly. David is pictured above with his supervisor from AFTRS Nicki Papadimitriou, and Robert Henry from JobSupport, and “in action” in the mailroom.

Great to hear that the fantastic series Employable Me returns to ABC and ABC iview from 9th April. This series shows what employers need to see: the person behind the condition; but it’s a tough road to convince employers to overcome their preconceptions. Series 2 features people who have a range of neurological conditions and disabilities, as they look for work.

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The filmmakers catch up with everyone who appeared in Series 1. So we’ll look forward to hearing about Marty Campbell, who had secured a job at a Mitre 10 store in Sydney.

Many thanks to Manly-based business Oceanpaddler for appointing FXAA as charity partner for the Bridge to Beach paddle race, and to Shaw and Partners Financial Services for matching donations $ for $. 2019 is our 6th year as charity partner for the race, and an amazing $16,000 was raised to help fund the FX Family Support Counselling Service / Help Line. Congratulations to all the paddlers for braving the crossing on Sunday 25th February! The Bridge to Beach is an annual 11km ocean paddling race across Sydney Harbour to Manly Cove. This year around 400 paddling enthusiasts—some professional, many amateur— made the crossing in 299 water craft, including SUPs and kayaks. Thanks to the paddlers who made donations as part of their race registration!

The paddling course—11km across Sydney Harbour!

Earl Evans, Co-CEO of Shaw and Partners, presented Prof Ted Brown with a cheque after the race.

Successful day for the Shaw and Partners Race Team! Team Fragile X: Wendy, Liz, Ted, Kiah and Keanu Our traditional post-race Lucky Dip for the paddlers is arranged each year to thank the paddlers for raising funds for Fragile X Association. This year’s prizes were donated by generous local businesses: Dripping Wet (Manly surf hire) Manly Kayak Centre. Rockpool Group and The Bavarian Manly. Revolution Tennis—Narraweena. Choi et Moi (chocolatier in Brookvale) Ruby Lane (Manly café and organic grocer) Page 7

Wayne joined the Board of Fragile X Association in November 2018.

Ben and Zak Pointon star in a short documentary made by Fragile X Association featuring several families. The film will be shared out from the FXAA youtube channel later this year!

Wayne lives in Busselton, Western Australia with his wife Lisa, their daughter Emma and twin boys Ben and Zak. Zak has Fragile X syndrome whilst his siblings are unaffected. Wayne has held several senior positions in the public sector in analytics and investigations, and in enforcement and compliance operations. He currently holds an operational leadership position within the mining industry. His interests? Wayne enjoys spending time fishing and camping with his family! “When my wife Lisa & I first received diagnosis for our son Zak, we were totally lost. Fear of the unknown. No idea where to start. We had never heard of Fragile X. We needed information fast. So I turned to Google. My web search immediately identified the Fragile X Association of Australia. What a blessing the Association has been for my family over the past 6 years. The information, resources, videos, conferences and facebook groups have provided so much more than just an education for us as parents. It provided immediate relief that we were not alone which is huge in itself. In the early days the Association provided some immediate direction and points of contact for us. We met other FX families in Western Australia and our whole perspective changed. Support is everything. It opens doors, minds and more than anything, it opens hearts. I'm honoured and very humbled in being appointed to the board of the Fragile X Association of Australia. The opportunity to be able to give back to FX families through the Association makes me very happy. I feel immensely privileged and look forward to our 30th year.� Wayne

Ben and Zak celebrating their 7th birthday! Page 8

Going out to see bands, clubbing, or seeing friends is part of everyday life for many people. However, if you have a learning disability you may need support to do this. Gig Buddies Sydney is a volunteer befriending initiative for adults with mild to moderate learning disabilities and/or autism. The program aims to match adults who have a learning disability with a volunteer who has similar interests, so they can attend events together that they both enjoy, like seeing band or going to sports events. Gig Buddies is an initiative of ACL Disability Services which is a registered not-for-profit organisation. Gig Buddies is based in Sydney at the moment, and is looking to expand to other cities over time. Ross waited a long time to find the right match in a Buddy and he and his Mum, May, consider themselves so lucky to have Neil as a Buddy. May says “It does my heart good to see them when they meet. Both have beaming smiles and I don't see Ross with a disability when they are together. Neil is a great companion for Ross and he can't wait for their outings together”. May adds “Neil is like family to us”. Since being paired 2 years ago, Ross and Neil have attended many events together such as cricket matches, a rugby match, the Invictus games and have been out for dinner. At the Gig Buddies Sydney Christmas party! Ross and his Buddy Neil. May with Liz Jewell (Fragile X Family Support Counsellor).


Organised by the founders of SourceKids magazine, SourceKids Disability Expos give people with a disability and their families and carers the opportunity to find and try out products and talk with service providers. The Expos focus on children, youth, and young adults, bringing together the latest products, services and technology, along with incredible speakers. There will be lots of activities and fun for kids, as well as sensory spaces for children with special sensory needs. Look out for the Fragile X table at the Melbourne Expo on 29-30 March, and come along and say hello to Liz Jewell! Page 9

Dr Danuta Loesch extends an invitation for participants in a study being conducted in collaboration with Prof Randi Hagerman and her team from the University of California. It is well known that nearly half of the males and 20% of the females carrying premutation develop a late onset neurological condition characterized by tremor, imbalance and cognitive decline, FXTAS. The question still remains as to why some carriers develop this disorder as they get older, while some others remain unaffected even in advanced age. To address this issue, we are looking for participants who are: 

male premutation carriers, over the age of 60, who do not have balance or tremor issues,


male and female premutation carriers over the age of 60 who do have neurological problems, especially in the form of imbalance and /or tremor.

The study provides testing including a medical history review, neurological and memory testing, MRI (optional), and collection of a blood sample to identify possible factors which may protect an individual carrying premutation from the development of neurological problems. Clearly, in the long run, thus identified factors may be used as targets for prevention and treatment of this condition. Most of the testing can take place at your home. We can only address this problem effectively if we have large enough group of volunteers, so that participation of any single person is of critical importance for this study success. Dr Danuta Loesch

If you are willing to take part in the research, or require more information about the study, please contact Dr Danuta Loesch Phone : 0407687145 or (03) 94791382 Email: d.loesch@latrobe.edu.au You can also write to: Dr Danuta Loesch, Department of Psychology and Counselling, La Trobe University, Bundoora, Victoria 3086.

The Australasian Menopause Society is a research partner in this study and is seeking input from everyone who has experienced early menopause symptoms, for example through FX-associated Primary Ovarian Insufficiency. Participation involves reviewing some early menopause resources and completing 3 brief online surveys that take approximately 20 minutes. If you’re interested please see the link online: https://is.gd/emhealthtalk

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Increasing awareness and understanding of Fragile Xassociated conditions in the medical community continues to be an important priority. Early diagnosis of Fragile X syndrome, FXTAS and FXPOI provides the opportunity for early intervention and early treatments for the best outcomes. Healthed supports our campaign by giving FXAA the opportunity to be present at their medical conferences in major capital cities each year. In 2019 our focus extends to increasing awareness of genetic carrier screening, in particular for Fragile X syndrome, Cystic Fibrosis and Spinal Muscular Atrophy. We’ve partnered with Spinal Muscular Atrophy Australia and Cystic Fibrosis Community Connect Vic/NSW to have a joint presence at Healthed conferences. Left: Julie Cini (SMA Australia) with Rebecca Mercuri and Karen Lipworth (FXAA volunteers) at the Healthed Women’s Health conference in Melbourne on 2nd March.

1 in 20 people carry a gene change for Cystic Fibrosis, Fragile X syndrome, or Spinal Muscular Atrophy, but most people are unaware that they are carriers. Genetic carrier screening helps people find out whether they have a chance of having a child with a genetic condition. Many thanks to Victorian Clinical Genetics Service for working with SMA Australia, Cystic Fibrosis Community Connect Vic/NSW and Fragile X Association to develop a pair of brochures providing information about carrier screening for CF, SMA and FX. These brochures will be included as satchel inserts for the thousands of delegates who attend the Healthed conferences for GPs and other health professionals throughout 2019. The International Society on Early Intervention conference in June, in Sydney, will be a great opportunity to profile the early intervention needs of children who have Fragile X syndrome. Around 3,000 international and Australian delegates will attend this conference across four days. Dr Don Bailey, from RTI International in the United States, is internationally known for his experience in early education and early intervention, disability and family support, in particular for Fragile X syndrome. Dr Bailey also leads newborn screening studies. He will give a keynote presentation at the conference on Newborn screening for Fragile X and other developmental disabilities. Dr Bailey’s colleagues from RTI, Melissa Raspa and Anne Wheeler, will also present at the conference. The Fragile X Association information stall in the exhibition space of the conference will be attended by Liz Jewell, FX Family Support Counsellor, and Prof Ted Brown. Page 11

The CONNECT-FX clinical trial commenced in Australia, NZ and the US in late 2018 to study an investigational drug named Zygel (formerly ZYN002), produced by Zynerba Pharmaceuticals. Zygel is a pharmaceutically produced CBD, a non-psychoactive cannabinoid, which is applied as a gel to the skin. CONNECT-FX is a placebo-controlled trial, and follows a smaller trial conducted in Australia in 2017. The current study hopes to recruit 204 participants across Australia, New Zealand and the US. The aim of the study is to determine whether ZYN002 can help manage some common behavioural symptoms associated with Fragile X syndrome, such as anxiety. For more details, see: https://zynerba.com/in-development/

Photo credit: Luis Ascui, Fairfax Media

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Fragile X-Associated Tremor Ataxia syndrome (FXTAS) is a neurodegenerative condition affecting a percentage of adults who are carriers of the Fragile X gene premutation, generally with onset late in life. FXTAS was discovered in 2001 after clinicians including Prof Randi Hagerman noted a pattern of neurological symptoms present in older (primarily male) grandparents and parents of persons with Fragile X syndrome. FXTAS is associated with a range of neurological and medical symptoms, including intention tremors, problems with balance and gait, short term memory loss, and can be mis-diagnosed as Parkinson’s disease. FXTAS affects men more frequently than women because of the protective effect of the second X chromosome in women. A number of factors influence the risk of a person developing FXTAS.

More information on FXTAS: National Fragile X Foundation

www.fragilex.org Resources include: a guideline (consensus) document by a group of clinical and research expert, covering diagnosis, testing and treatment guidelines; videos of presentations on FXTAS by specialists; links to medical journal articles.

Fragile X Association of Australia youtube channel

https://bit.ly/2Hv008F The channel has videos of lectures by Prof Randi Hagerman and Prof Paul Hagerman covering Fragile X-premutation issues including FXTAS.

FXTAS discussion group on Facebook

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 well as future treatment options.

FXTAS Clinic Caulfield Hospital 260 Kooyong Rd, Caulfield Fridays 9am-1pm Phone: 03 9076 6800

David undertook specialty cerebellar training with Prof Elsdon Storey and currently collaborates on research into FXTAS with Prof Storey and Dr Danuta Loesch, both of whom are internationally well known FXTAS researchers.

GP referral to: Dr David Szmulewicz

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 including physiotherapists, occupational

therapists, speech pathologists, and neuropsychologists. 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 Sam Bolitho is an Australian Neurologist. Together with A/Prof Stephen Tisch he has been seeing Fragile X premutation carriers and patients with FXTAS at the Premutation/FXTAS clinic within the Neurology Department at St Vincent’s since 2016.

FXTAS Clinic Movement Disorders Clinic 390 Victoria St Darlinghurst

About the clinic: Now in its fourth year, the FXTAS clinic is open on the last Monday of each month, from 2pm.

Last Monday of a month 2:00pm-4:00pm Phone: 02 8382 3115

Bookings can be made direct or via Fragile X Association (call FXAA on 1300 394 636)

GP referral to: Dr Stephen Tisch

The establishment of the clinic was initiated by the Cunningham family, who are long-term supporters of Fragile X Association of Australia. Page 13

Fragile X Association of Australia is funded solely by donations and fundraising. Donations and fundraising make it possible for FXAA to provide information, support, referrals and advocacy for families, and to provide the HelpLine service for everyone who contacts us for information or support about Fragile X-associated conditions.

Sincere condolences to the family of Peter McAlley who passed away in late 2018. Peter and his family have been members and supporters of Fragile X Association for many years. Peter’s daughter Bronwyn volunteers for the Association on our information stalls at doctors’ conferences in Melbourne, helping raise the profile of Fragile Xassociated disorders amongst GPs and other health professionals. Bronwyn also organises regular Fragile X family get togethers. Peter’s granddaughter Miriam calls Fragile X her “super power”. Many thanks to Helen McAlley for arranging for tributes to Peter to be made via donations to Fragile X Association, in lieu of flowers.

Vanessa, Graham, Nyleta, Marty and Janine are some of our members who have set up a Fragile X fundraiser on facebook for their birthdays. Thank you! This is a great way to support Fragile X Association. How does it work? When your birthday is close, Facebook will prompt you to set up a fundraiser for your “favourite charity”. Donations can be made to the charity using PayPal. At the end of the fundraiser, the funds are sent by the PayPal Giving Fund directly to the charity. Benefits for the charities include the fact that they pay no fees on the donations, and the donations are remitted promptly.

Many thanks to the Galston Garden Club for once again raising funds for Fragile X Association through their annual Open Gardens weekend in the Hills district of Sydney. Trish and Graham Piper, whose nephew James Hook, has Fragile X, initiated the partnership between the Garden Club and Masonicare for matching the funds raised.

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Wendy Bruce was delighted to receive the “big cheque” from representatives of both Masonicare and the Galston and District Garden Club! Over the years, the Open Gardens event has raised close to $75,000 for Fragile X, and this support is very sincerely appreciated.

New dance competition in Ballarat: “Because the Jones family were here within our school, we wanted something personal and meaningful and it’s a special way to raise awareness a cause that doesn’t have a lot of recognition.” of Fragile X! The Ballarat Dance Awards were held in early January, in Ballarat, Victoria. The event involved two days of dance masterclasses with a third day of competition to determine scholarship and award winners.

“We have been working on the Ballarat Dance Awards for a few years and until now it’s just been an idea. We have been gifted $5000 and will put the money toward giving back to the community.” Dancers from around Victoria signed up to participate in the program, and it was a hugely successful event. VIP guests who took part in the program to adjudicate and inspire the young dancers included Amy Harris, Principal Artist of the Australian Ballet, Megan Connelly, Ballet Mistress & Rehabilitation Specialist with the Australian Ballet, and Callum Linnane, Soloist with the Australian Ballet.

Fragile X is close to the heart of Anita Delaland, the director of Anita Coutts School of Dance, and the inspiration and driving force behind the Ballarat Dance Awards. Anita trains young dancers Zara Jones and Sadie Jones, whose brother Jimmy has Fragile X syndrome. Anita knew of the real need to raise awareness of Fragile X, and that the new Ballarat Dance Awards would be an ideal event to do this. Each dancer who took part in the Sunday Dance “We’ve just built our new Kenrick dance complex, which Challenge was given an orange Fragile X ribbon to wear, together with an Understanding Fragile X brotook a couple of years, and now we can do bigger and chure. Jimmy’s mother Sarah spoke about Fragile X better things which is why I have gone ahead with the new dance awards,” Anita said. before each event.

All proceeds from audience tickets were donated to Fragile X Association of Australia.

Sarah Jones, Anita Delaland and team!

Jones family with Anita Delaland & Angela Naracotte Photo credit: Lachlan Bence, The Courier (Ballarat)

Amy Harris, Callum Linnane Amy Harris, Zara Jones, Megan Connelly

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Zara Jones

Many thanks to everyone who submitted nominations for the 2018 Achievement Awards. All richly deserve recognition for their efforts and achievements, and they are an inspiration to the Fragile X community. Seven winners were announced at the FXAA Annual General Meeting in November 2018.

Ben Gower Launceston, Tasmania Ben was nominated for his resilience and always doing his absolute best. His personality lights up a room, and his efforts in getting our and about to sell FX awareness memorabilia each July is outstanding. Ben is proud of the support he gives to the Fragile X community, and to FXAA. He worked hard at a job trial, and has been successful in gaining employment.

Shante Sweeney Perth, Western Australia Shante was nominated for being so proactive on the Fragile X Association’s facebook pages, and always offering support and advice to new members who join the FX facebook groups.

Isaac Smith Adelaide, South Australia Isaac was nominated for successfully completing 14 years at mainstream school and having received a modified SACE certificate. His family is very proud of all his achievements. While attending school part-time in 2018 Isaac explored work options and developed skills to transition to work, and is now establishing his own micro enterprise .

Nyleta McRae Brisbane, Queensland Nyleta was nominated for her tireless, and incredible work in instigating the annual Fragile X Community Day in Brisbane. Nyleta served on the Board of FXAA for 3 years and introduced a number of successful initiatives, such as the national “light up orange for FX” campaign.

Richard Morris Toowoomba, Queensland Richard was nominated for his 5 years of service as a volunteer at Toowoomba Hospice. He volunteers twice a week, is a hard worker, and he’s a valued member of the team. Known as a local legend, he appeared on a local Channel Seven news story about the Hospice and his role there.

Cameron Marashian Sydney, New South Wales Cameron was nominated for important service to the community through his involvement in his special needs Cricket club, Blowfly Cricket. He works hard at the club fundraiser barbecues. Cameron’s efforts earned him a nomination for Young Volunteer of the Year Award. Cameron was also nominated for an Achievement Award for his willingness to take on leadership roles at his school.

Ross Mackenzie Sydney, New South Wales Ross was nominated for his strong work ethic, for taking on responsibilities and being very reliable. Ross has been employed at coffee shops for more than 10 years. He also volunteers at the FXAA office and at FXAA events, including family picnics, the Annual General Meeting, and fundraising events. Page 16

Richard Morris with his Fragile X Achievement Award

Shante Sweeney profiling Fragile X in Perth

Becky, CEO of Fragile X Society UK, keeping warm in FX Australia kit !

Liz Jewell and Prof Ted Brown at the Bridge to beach fundraiser

Ross & May dressed for “ happy birthday Randi” greeting video Fragile X Australia sent for Dr Randi Hagerman’s recent special birthday celebrations

Kaye and Issy at a lunch

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Cameron Marashian: winner of a Fragile X Achievement Award

Prof Ted Brown at the Healthed Women’s Health conference, Sydney

Stuart McCraith setting up the FX Healthed info stall in Melbourne

The Board for 2018-2019 was appointed at the Annual General Meeting on 11 November 2018. Prof Wm Ted Brown, President Ted is the recently retired director of the New York State Institute for Basic Research in Developmental Disabilities in the US. Much of his 35-year research career has focused on Fragile X syndrome and autism, and he was the first to describe a relationship between autism and Fragile X syndrome. On retiring Ted relocated to Sydney. Ted joined the Board in 2018.

Judith Lenart, Treasurer Judith is an investment consultant and community volunteer. She is qualified in urban valuation, natural health and school trusteeship and is trained in governance. Judith rejoined the Board in 2018 as Treasurer, having previously served as Secretary. Christine Kelleher, Secretary Christine has been involved with the Association for almost 20 years as a member and as a director. She is the mother of 3 children, 2 of whom have Fragile X. Christine rejoined the Board in 2018 as Secretary, having previously served on the Board in other roles. She is passionate about sharing her knowledge of raising children with Fragile X. Graham Hook, Director Graham is a defence industry manager, and his adult son James has Fragile X syndrome. Graham is a keen photographer, artist and cyclist. He rejoined the Board in 2016, having previously served in several roles in the early days of the Association. He also volunteers with Special Olympics Queensland as a basketball coach for one of the Brisbane teams.

Katherine Brown, Director Katherine works in the finance industry and is based in Adelaide. Katherine has a young son, Andrew, who has Fragile X syndrome. Katherine is a keen runner and has raised funds for the Association through running, movie nights and other events, and helps to raise awareness of Fragile X conditions at health professional conferences in Adelaide. She has served on the Board since 2015.

Mike Tozer, Director Mike is co-founder of Xceptional, a technology services firm that employs people with autism, and co-founder of Fragile X Hong Kong. Mike and his wife Helen have two children; their son Josiah has Fragile X syndrome. Mike is very active in raising awareness of Fragile X and autism through the media and participation in running events. He holds a Guinness World Record for the fastest half marathon in a suit! Kate McKeand, Director Kate is a disability advocate and mother of two children who have Fragile X full mutation, and director of a consulting organisation in Melbourne that specialises in supporting and empowering participants in the NDIS. Originally an environmental engineer, Kate has experience in the not-for-profit, government and consulting sectors. Kate joined the Board in 2018.

Wayne Pointon, Director Wayne lives in Busselton, WA with his wife Lisa, their daughter Emma and twin boys Ben & Zak. Zak has Fragile X syndrome whilst his siblings are unaffected. Wayne has held senior positions in the public sector in analytics and investigations, and in enforcement and compliance operations. He currently holds an operational leadership position within the mining industry. He joined the Board in 2018. Page 18

The first of the Sydney Fragile X Family Picnic Days this year was held at Livvi's Place, Northridge Oval, Jordan Springs, near Penrith, in February. Livvi’s Place is a fantastic all-inclusive play area for children of all abilities. http://touchedbyolivia.com.au/lets-play/penrith/ The picnic was well attended and a was great opportunity to catch up with old friends and make some new ones! We try to locate family picnics at various locations to make attendance accessible to all. If you have a suggestion for a family picnic area for our next Sydney picnic please let us know ! - Liz Jewell

Cody (family picnic February)

Cameron, Vanessa & Gus (family picnic February)

Elijah and Ross (family picnic December)

Shante Sweeney arranges family catchups in WA, generally in Perth. The next family gathering will be held on Saturday 27th April, at the fabulous Perth City Farm. Contact Shante for details: sripper-sebbes@hotmail.com


Bronwyn Kelleher arranges regular get together events in and around Melbourne. The most recent was held on Monday 11th March. Details of the Victorian meetups can be found in the Fragile X Victorian Support Group facebook page. You can also contact Bronwyn through the Fragile X Association office: support@fragilex.org.au or 1300 394 636

Geoffrey and Pete

Diane and Fabian

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Janine and Bronwyn

Call: Email:

   

1300 394 636 (cost of a local call) support@fragilex.org.au

Liz Jewell Family Support Counsellor

Wendy Bruce Executive Director

Monday, Tuesday, Thursday liz@fragilex.org.au 02 9907 2366

Monday—Friday wendy@fragilex.org.au 02 9907 2366

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 Website Facebook groups

Fragile X Association of Australia is a registered charity, 100% funded by donations and fundraising. Donations of $2.00 and over are tax deductible. Your donation will be help us support families affected by Fragile X, and to increase awareness of Fragile X-associated conditions.

Like to help us fundraise? Get in touch!

 Regular donations  One-off donations  Workplace giving pro-

Registered office of Fragile X Association of Australia Inc Suite 204, 20 Dale Street Brookvale NSW 2100 02 9907 2366 1300 394 636 ABN: 18 655 264 477

ARBN: 626 478 966

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