FX News
Winter 2026
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FX News | Winter 2026 Connecting, supporting and shining a light on Fragile X A message from our President Please have your say on FXAA’s future focus as we celebrate the people, partnerships and progress featured in this edition. To our members and friends,
I commend to you the recording of our most recent FX Research Roundup webinar, in particular a fascinating presentation by Katie Clapp (President and Co-Founder of FRAXA Research Foundation) on early stage research and clinical trials seeking curative treatments for Fragile X syndrome.
This edition of our newsletter reflects the many ways our community connects, contributes and helps build understanding of Fragile X. It also includes an important opportunity for you to In this edition we also highlight our work in advancing the help shape what comes next. understanding of health professionals about testing and screening, and health conditions associated with Fragile X. We’re asking everyone across the Fragile X community to We have an update on the e-learning resources we’re building complete our member feedback questionnaire. We want to for disability and aged care staff supporting adults with know what you value about FXAA, what’s working well, Fragile X syndrome, and we congratulate Melissa Barker on her what we could improve and where you believe we should place new Fragile X children’s book. And you’ll meet Andrew, one of the greatest focus in the future. Please take part, whether you our volunteer Board members. use our services regularly, have had little recent contact with us, or are new to FXAA. We want to hear from people living with We celebrate and thank everyone who supports this community Fragile X, parents, carers and family members, as well as the through fundraising, volunteering & supporting our small team. professionals who support our community. Every perspective will help guide how we support the These stories show the strength, generosity and diversity of Fragile X community into the future. our community. You can complete the feedback form online, complete a printed copy and return it to us by post, or provide your feedback by speaking with Wendy or Liz by phone. Please respond by 21st September. It will only take you a short time, and the collective feedback will make a real difference.
I want to acknowledge that major changes to the NDIS will mean significant change to the support available for many children and adults in our community and that there is still much uncertainty about the future arrangements. We are working alongside other organisations to understand the impact of the most recent changes and the timelines involved. There is also much to celebrate in this edition. We look back on Links will be provided on our website to information updates. World Fragile X Day, when many Australian landmarks joined Please keep in mind that our Family Counsellor Liz is more than 400 around the world in lighting up. We recognise the available 3 days a week, through our HelpLine. extraordinary support of Built and JAC Motors Australia, whose raffle inspired by the D’Amico family raised a very significant Thank you for being part of FXAA, and please take this sum to support the work we do for our community. We also opportunity to tell us what matters most to you. share the latest in the journey of Hayden, Jake and & their parents as they work towards visiting every ABC bureau in the Warm regards, country, raising awareness of Fragile X along the way.
You can catch up on our webinars and other resources on conditions associated with the Fragile X premutation, recent research and a way you can contribute to growing knowledge.
Dr Lawrie Bott President, Fragile X Association of Australia
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FXAA Community Feedback We want to hear what matters to you. Your ideas and feedback are important to us and will help guide how we support the Fragile X community into the future. We welcome your feedback on: What you value about FXAA What is working well and what could be improved Where you think we should place greater focus You don’t need to have used an FXAA service or participated in an FXAA activity recently in order to provide your feedback. This feedback form will take around 10 minutes to complete. Three ways to provide your feedback by 21 SEPTEMBER: 1. ONLINE - Scan the QR code or link from www.fragilex.org.au 2. PAPER VERSION of the feedback form 3. BY PHONE with Liz or Wendy Please get in touch if you would like: * A paper copy posted to you * To provide responses by phone Contact Wendy Bruce at wendy@fragilex.org.au or 1300 394 636
FXAA Board positions FXAA will soon have vacancies on our Board, creating an opportunity for members who would like to contribute their experience, ideas and enthusiasm to the future focus of the organization.
For Adam, joining the Board was a way to give back after FXAA supported his family following his son Joshua’s diagnosis of Fragile X syndrome.
As a volunteer working Board, our members help guide FXAA’s priorities, oversee its governance and finances, and support the work of our small team. Board members bring many different perspectives, including lived experience of Fragile X, professional expertise, research knowledge and a desire to give back to the community.
“FXAA connected our family with the medical and therapeutic support we needed to understand Fragile X and support Joshua. When he was older and well established at school, I felt I had the time to give something back.”
Board members Professor Ted Brown and Adam Lawrence-Slater joined the Board for different reasons, but both have found the experience deeply rewarding.
During his time as Treasurer, Adam has helped guide FXAA through COVID, the expansion of the webinar program, the Fragile X Care | Adults and Ageing initiative and a period of continued growth and change.
Ted brought decades of international Fragile X research and clinical experience to the Board after moving to Australia from the USA. He has particularly valued the opportunity to share his knowledge of emerging research and clinical trials. “Being able to provide advice and summarise ongoing trials of potential therapies has been very satisfying. I have been happy to share an informed perspective that may be helpful to the Fragile X community in Australia.”
“The most rewarding part has been helping make sure Wendy and Liz have the resources they need to support families and communities across Australia. I love seeing the connections they make through events, webinars, family support, awareness activities and engagement with health professionals.” Ted is retiring at the Annual General Meeting on Sunday 6th December, having served for 8 years in the roles of President and Vice-President. Adam’s term on the Board will conclude in late 2027. You don’t need to have followed the same path as Ted or Adam to make a valuable contribution.
To learn more about the Board vacancies and what’s involved, please contact FXAA Executive Director, Wendy Bruce at wendy@fragilex.org.au or 1300 394 636 Page 3
Meet Andrew Get to know FXAA Board member Andrew and the experience, perspective and personal motivation that saw him join the Board in December 2024.
Is there a particular part of FXAA’s work you feel especially passionate about? The support and information FXAA provides at important stages such as diagnosis, starting school and moving towards independent living. Helping families feel informed, supported and connected is an area of FXAA’s work that resonates strongly with me.
Andrew, tell us a little about yourself and your connection to Fragile X. I live in Adelaide with my wife, Jay, and our son, Johannes. I’m a lawyer and work as a Senior Manager in investigations and enforcement at the Australian Securities and Investments Commission.
Receiving a Fragile X diagnosis can be overwhelming. I remember how valuable it was to have access to clear, practical information, rather than only medical or academic material, and to speak with people who understood what we were experiencing.
Jay and I met at university in Adelaide before moving to London in 2010. Johannes was born there in 2018, and later that year we moved to New York for my work with UBS. We returned to Adelaide in 2021.
What gives you hope for the future? I’m encouraged by growing awareness of Fragile X, the strength of the advocacy community and the research taking place around the world. I’m also inspired by the achievements of people living with Fragile X and the dedication of their families, educators, clinicians and support networks.
We knew from around eight months that Johannes was not meeting typical developmental milestones, but he did not receive his Fragile X diagnosis until November 2021. He is now eight and attends his local primary school in a mainstream class with one-on-one support.
Together, these give me confidence that opportunities and outcomes will continue to improve, and that people like my son will be able to fulfil their potential.
Although he sometimes finds the world challenging and overwhelming, Johannes is a very happy child who continually impresses us with his determination and kindness. He loves trains, singing and Asian food. What motivated you to join the FXAA Board? We joined FXAA the same week Johannes received his diagnosis. FXAA was a fantastic source of information, and it was invaluable to speak with Liz and other families. When I saw FXAA was seeking new Board members, I felt I might be able to contribute. The Board did not have legal expertise at the time, and I believed my skills could be useful. I was also interested in learning more about how a not-for-profit Board operates. What experience or perspective do you hope to bring to FXAA? My professional background has given me experience in governance, risk management, regulatory compliance and strategic decision-making.
What would you like members to know about the work happening behind the scenes? The Board is made up of volunteers who are deeply committed to FXAA’s mission. A great deal of work happens behind the scenes to ensure the Association remains financially sustainable, well governed and able to support the community into the future. Although much of this work is not always visible, it is focused on strengthening the organisation and helping it deliver meaningful outcomes for people affected by Fragile X. I also think members would be surprised by just how much Wendy and Liz achieve within such a small organisation! What do you enjoy outside work and FXAA? After many years overseas, I have a real appreciation for life in South Australia. We often walk in Morialta Conservation Park near our home. I’m also a keen guitarist. I play in a band and occasionally release music on Spotify.
Having worked in Australia, the UK and the United States, I have also seen different approaches to regulation, advocacy and stakeholder engagement coupled with having the lived experience of parenting a child with Fragile X. What have you learned about the Fragile X community since joining the Board? Despite often navigating significant challenges, families have a strong willingness to share their experiences, support one another and advocate for better outcomes. I have also come to appreciate how diverse the experiences of individuals and families can be. This reinforces the importance of providing support, information and connection in ways that meet a wide range of needs.
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A big Australian adventure, one ABC bureau at a time One of Hayden Eastbury’s passions has taken his whole family on an unforgettable journey around Australia.
Hayden and Jake both live with Fragile X syndrome. For their father, Phil, the journey has become about much more than travel. It has given the boys opportunities to follow their interests, meet new people, build confidence and help others learn about Fragile X.
When Hayden Eastbury says he loves the ABC, he really means it. The 17-year-old from Newcastle has set himself an ambitious goal: to visit every one of the ABC’s 68 bureaus across Australia.
Phil says the family has encountered kindness and support across the country. He hopes their story will encourage greater awareness of Fragile X and show what can happen when people are welcomed, supported and given the chance to pursue the things they love.
Hayden, his brother Jake and their parents set off from Newcastle in mid-2024. Since then, the family has travelled through Queensland, the Northern Territory, Western Australia and many places in between, meeting ABC presenters and local teams along the way.
The road trip is on pause as Hayden has returned to Newcastle to complete Year 12, but the family plans to continue the adventure after he finishes school later this year.
For Hayden, every visit is special. He has collected ABC stickers, sat behind news desks, tried radio presenting in Darwin and met some of the people he watches and listens to at home. He is a big fan of the conversations between presenters and particularly enjoys Back Roads. One day, he hopes to work for the ABC himself.
If a future at the ABC does not eventuate, there is always Hayden’s other great interest, a job connected to garbage trucks!
Get ready for Summer! On sale OCTOBER 2026 www.fragilex.org.au Pre-orders: support@fragilex.org.au
The white cap get a thumbs-up from Johnny !
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Learn, connect and ask questions FXAA’s webinar program brings practical information and specialist knowledge directly to families and professionals, wherever they live.
Medications in Fragile X syndrome, presented by Dr Jonathan Cohen provided an overview of medications that may help with symptoms associated with Fragile X syndrome. Planning for the future for a family member As part of our series on planning for the future for a family member with disability, Margaret Duncan presented on Disability Estate Planning and Special Disability Trusts. Marg Duncan is Principal Lawyer at Duncan Legal. The first session covered wills, powers of attorney, protective trusts, trustees, asset protection, government benefits, superannuation, insurance nominations and accommodation considerations for a person with disability. The second webinar explored the advantages and limitations of these trusts when planning for the future. Both were presented Live Only and will be presented again in 2027.
Our free webinar program is an important part of the support and education FXAA offers. Sessions cover everyday support, planning for the future for a family member with Fragile X syndrome, health issues associated with Fragile X syndrome and the Fragile X premutation and emerging research in treatments for Fragile X syndrome. Where recordings are available, they are added to FXAA’s YouTube channel and podcast platforms so members, carers and professionals can watch or listen at a convenient time.
Recent webinars
Marg Duncan also presented on Guardianship and Administration (in Victoria) , discussing decision-making, capacity, VCAT applications and the roles and responsibilities of guardians & administrators. We hope to identify presenters for similar sessions relevant to other States/territories in the future.
Sensory Processing and Fragile X syndrome presented by OT Bev Kadish. See a wrapup on the following page. FX Research Roundup On 9th July our annual Fragile X Research Roundup featured special guests talking about how research & development efforts are building knowledge of Fragile X-conditions and potential future treatments.
Coming later in 2026 Understanding the Fragile X premutation and its health impacts: update to be presented by Dr Cohen (date tbc).
Katie Clapp, President and Co-Founder of FRAXA Research Foundation, shared a fascinating perspective on early stage research & clinical trials in Fragile X syndrome and what may be on the horizon for treatments. Dr David Hessl from UC Davis MIND Institute shared an update on the International Fragile X Premutation Registry - a resource to advance knowledge on the Fragile X premutation. A/Prof Jessica Klusek from the University of South Carolina talked about what is being learned about the health impacts of the Fragile X premutation for women through research work at the University. A/Prof Erin Turbitt from UTS Sydney gave an update on the NurtureNextGen project, which involves co-design of a digital tool to improve the diagnosis experience of parents and caregivers of children with genetic neurodevelopmental conditions, including Fragile X syndrome.
A webinar on Microboards on 6th September is part of our series on planning for the future. Jaquie Mills founded Microboards Australia in 2008. It’s a family-led, not for profit organisation supporting people with a disability and their networks of support to find ways to develop lasting relationships, recruit support teams and plan for the future. On 17th November Bev Kadish will present a webinar for Occupational Therapists on Sensory Regulation in Fragile X syndrome. This will be a deep dive on sensory regulation and the impact of hyperarousal for people with Fragile X syndrome. Bev says she will present ideas specific to Fragile X syndrome to enable regulation so that each individual can participate, engage and be the best version of themself.
To register for a webinar, head to our website. Find recordings on youtube/podcasts.
www.fragilex.org.au
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Sensory processing and Fragile X syndrome: Building a sensory diet Bev Kadish, occupational therapist and founder of Write Start OT, joined our webinar series to talk about a technique to support the sensory sensitivities experienced by many children and adults with Fragile X syndrome, and help a person remain calm and regulated.
KEY TAKEWAYS FROM THE WEBINAR • Sensory processing is the neurological process that takes in sensory information, organises it, and turns it into a useful response. • The body has eight senses. Alongside sight, hearing, taste, touch and smell sit proprioception (muscles and joints), the vestibular sense (movement), and interoception (internal cues like hunger or needing the toilet). • A sensory diet is a personalised, structured plan of sensory activities across the day, built from sensory “meals” and “snacks”. It should be designed by an occupational therapist, because what regulates one person can overwhelm another. • Deep pressure through the muscles, joints and skin is one of the safest and most organising inputs for the nervous system. It is the same principle behind swaddling a newborn. • Dysregulated behaviour is often a signal that the sensory system is not coping. As Bev puts it, the aim is to “feed the need rather than stop it.”
WEBINAR FOR OCCUPATIONAL THERAPISTS | Sensory Regulation and Fragile X syndrome. On 17th November Bev will provide a deep dive on sensory regulation, and the impact of hyperarousal for children with Fragile X syndrome. Bev will present ideas specific to Fragile X syndrome to enable regulation so that each individual can participate, engage and be the best version of themself. You’ll find the registration link on the FXAA website.
Explore our resources on
Fragile X syndrome
A resource worth sharing
Our library of resources on Fragile X syndrome delivers practical information and specialist knowledge. These resources are useful for parents & caregivers, teachers, allied health professionals, disability support workers and extended family members. Presented by experts. Essential topics including: Medications and Fragile X syndrome. Research and clinical trials on the horizon. Understanding behaviours. The Fragile X learning style. Supporting females with Fragile X syndrome. Social stories and visual schedules. Sleep disorders. Toileting. Page 7
Fragile X premutation: FXTAS Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) is a late onset neurodegenerative disorder caused by a premutation in the Fragile X (FMR1 gene). FXTAS can affect some male and female carriers of the FMR1 gene premutation in later life. Symptoms can include gait ataxia (unsteady walking) and/or intention tremor along with features of progressive cognitive decline, neuropathy and malfunction of the autonomic nervous system.
The symptoms, diagnostic criteria and medical management involved in FXTAS are not necessarily well understood by health professionals. The information resources listed on this page may be helpful for people who have a diagnosis of FXTAS, their family and caregivers, and health professionals who are supporting a patient with FXTAS.
NEW JOURNAL ARTICLE
The article provides detail on general medical management of FXTAS, including psychiatric symptom management, cognitive stimulation and digital brain training, psychotherapy for patients and caregivers, management of vocal dysfunction and speech problems, the role of speech & language pathologists in supporting communication difficulties, and physical therapy.
Comprehensive, Multidisciplinary Care for Fragile X-Associated Tremor/Ataxia Syndrome Frontiers in Neurology journal. March 2026. Authors: James A Bourgeois, Andrea Schneider, Jessica Klusek, Thomas R Christensen, Ellie Levin, Kendall Gardner, Ariel A Jacobi, Randi J Hagerman This article provides an excellent overview of FXTAS symptoms, management and care and will be an informative resource for people who have a diagnosis FXTAS, their family and caregivers, and health professionals.
Where to find the article The article is available online and is open access (free). Scan the QR code.
It covers the clinical manifestations and symptoms, diagnostic criteria, the stages of the progression of FXTAS, the differentiation of FXTAS from other movement disorders such as Parkinson’s disease, and holistic care components for patients.
If you don’t have ready access to a printer get in touch and we can post you a copy. Contact: support@fragilex.org.au or 1300 394 636
Ongoing research on FXTAS in women Researchers at the University of South Carolina (USC) are studying the Fragile X premutation across the lifespan, from early childhood to older adulthood, to better understand how symptoms may appear and change over time. One of the USC projects, led by A/ Prof Jessica Klusek, focuses on adult women with the FMR1 premutation to understand when and why symptoms of FXTAS begin, and how clinical, genetic, and environmental factors may play a role. Dr Klusek joined our FX Research Roundup webinar in July and gave an interesting talk about what the work is revealing about the onset and experience of FXTAS in women. Catchup with the recording on youtube.
Comprehensive discussion on FXTAS Specialist neurologist Dr Alex Fois joined our webinar series last year. His comprehensive presentation covers: * the role of the FMR1 gene in FX-associated conditions * the cause of FXTAS * what’s known about incidence and onset * the type and variability of symptoms people can experience * therapies and treatments that may help with symptom management. Dr Fois recommended several resources including the Parkinson’s UK Exercise Toolkit— an online resource with video workouts of varied intensity.
You can catchup with the recording online, as video & audio. Page 8
Fragile X premutation: testing and health perspectives The information resources listed on this page may be helpful for women who are carriers for the Fragile X premutation and for health professionals.
PODCASTS GenoCare, hosted by genetic counsellor, researcher and clinician Dr Ali Archibald, is a podcast for clinicians, patients, and anyone navigating genetic and genomic care. The series explores how genomic testing is used in real clinical practice - and what happens beyond the test result. Two recent episodes profiled the Fragile X premutation. In February an episode explained Carrier Screening for Fragile X and why results can vary so widely. In an episode released on 22 July for Fragile X Awareness Day, Dr Archibald spoke with Karen Lipworth about Fragile X-associated Primary Ovarian Insufficiency (FXPOI). Karen is a lived-experience advocate and former board member of FXAA. Since her own diagnosis, Karen has become a passionate educator, speaking with GPs, fertility specialists and families so that fewer people receive life-changing news the way she did. Both episodes well worth a listen on Spotify and Apple.
Fragile X Explained: Carrier Screening, Risk Assessment, And What the Results Really Mean Fragile X explained in clear terms: how Fragile X syndrome is inherited, what carrier screening looks for, and why results can vary so widely between individuals and families. This episode covers: * The difference between being a carrier and having the syndrome * CGG repeat numbers, premutations, and why “risk” is not one-size-fits-all * The role of AGG interrupts in refining risk assessment * Why Fragile X carrier results require specialist genetic counselling
Fragile X with Karen Lipworth: Living with FXPOI “At work, mid-way through the day, Karen took a phone call telling her she'd gone through menopause — in her 30s. No warning, no support in the room, and no explanation of why. It would take a third fertility specialist, and years of wondering whether she was imagining it, before anyone finally tested her for Fragile X. In this episode, Ali sits down with Karen to trace a journey many people will recognise: the long road to diagnosis, the tangle of grief and relief that comes with finally having an answer, and the reproductive decisions that followed. Karen shares her experience of FXPOI with honesty, warmth and hard-won wisdom — and makes a compelling case for why this testing has to happen earlier.”
FXAA WEBINAR RECORDINGS A reminder of practical information on health considerations for female Fragile X premutation carriers available in recordings on the FXAA YouTube and Podcast platforms. Including: •
FXPOI: What to I need to know? A comprehensive and practical presentation by endocrinologist and internationally renowned menopause expert Dr Amanda Vincent last year.
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IVF and PGD considerations for Fragile X premutation or full mutation carriers addresses IVF and Pre-Implantation Genetic Diagnosis, a process used to differentiate embroyos based on their genetics before transfer back into the uterus in the context of testing and screening for Fragile X syndrome. Presented by IVF specialist Dr Mark Livingstone.
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Update on the FMR1 premutation A clear overview of the health impacts which some carriers of the FMR1 premutation may experience, focusing on FXAND and current approaches to management of symptoms. Presented by Dr Jonathan Cohen.
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Australia shines for World Fragile X Day More than 400 landmarks around the world, including 108 across Australia, lit up on 22 July to raise awareness and celebrate the Fragile X community. On 22 July, orange lights appeared across every Australian state and territory for World Fragile X Day. Iconic venues, bridges, civic buildings, stadiums, fountains and community landmarks joined a worldwide movement to help more people see, ask about and understand Fragile X. Australia’s own light-up program began in 2016, when Nyleta McRae, a Fragile X parent in Brisbane, set out to shine a light on Fragile X syndrome. Brisbane City Council and Launceston City Council were the first to support the campaign, and the program has grown every year since.
In 2026, 108 Australian landmarks took part in the lightup. They included the Royal Australian Mint, Newcastle Clock Face Tower, Suncorp Stadium, Adelaide Oval, Fed Square, Optus Stadium, the Matagarup Bridge, the Big Banana and many local buildings and public spaces. The landmarks create a powerful public display, but the heart of World Fragile X Day is our community. Families and supporters gathered under the orange lights, wore orange, shared photos, spoke about their experiences and helped put Fragile X into conversations across the country. Including at Grenfell Public School in NSW. Story shared by FXAA member Emily Essex:
13 August 2026 “Students at Grenfell Public School now have access to a
new communication board designed to support children of all abilities to communicate, connect and participate. The board was officially unveiled on Fragile X awareness day, Tuesday 22 July, and was donated by Nev and Emily Essex as part of their commitment to promoting inclusion within the local community. The project holds special significance for Nev and Emily, whose seven-year-old son, Billy, attends Grenfell Public School and lives with Fragile X syndrome and Autism Spectrum Disorder.
Billy experiences significant communication challenges and uses Augmentative and Alternative Communication (AAC) to help express his thoughts, needs and feelings. “Communication is something many of us take for granted,” Emily said. “For children with complex communication needs, having access to visual supports like this can make a huge difference. It gives children another way to express themselves, make choices, build relationships and feel included.” The communication board was unveiled during a special school assembly attended by staff and students from Grenfell Public School. Billy’s older brothers, Max and Eddie, proudly unveiled the board, making the occasion especially meaningful for the Essex family and reinforcing the importance of creating an inclusive school community where every student has the opportunity to communicate. To mark Fragile X awareness day, Grenfell Public School also held a mufti day, with students and staff encouraged to wear a touch of orange, the colour used across Australia to raise awareness of Fragile X syndrome. The day provided an opportunity to celebrate inclusion, learn more about different communication needs and recognise that every child deserves to have their voice heard.
“Despite being the leading genetic cause of autism, Fragile X syndrome remains relatively unknown and widely misunderstood. As an inherited genetic condition, the Fragile X gene change can be passed through generations before anyone in a family receives a diagnosis. “By recognising Fragile X awareness day and installing this communication board, we hope to raise awareness of Fragile X syndrome, increase understanding of the families it affects and highlight the importance of accessible communication so that everyone has the opportunity to be heard and included.” Nev and Emily would like to sincerely thank Grenfell Public School, particularly Principal Brent Cartwright, for embracing the project from the outset and recognising the value of creating a more inclusive environment for all students. The school’s support of both the communication board and Fragile X awareness day reflects a genuine commitment to ensuring every child has opportunities to communicate, connect and participate. Emily said she hopes the communication board will become a valued resource for students for many years to come.
“Every child deserves to be heard, understood and included.” Emily said the project was also about raising awareness of Fragile X syndrome, the most common inherited cause of This board is a simple but powerful reminder that intellectual disability and the leading known single-gene cause communication looks different for everyone, and that’s of autism. something worth celebrating,” Emily added.” Page 10
Global initiative of FRAXA Research Foundation
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sensory or environmental triggers which may lead to heightened anxiety and changes in behaviour. The e-learning offers practical strategies which have been found to be helpful in providing effective care and support for an adult with Fragile X. Our Fragile X Care | Adults & Ageing project has been a three-year collaboration between FXAA and the Centre for Disability Studies (affiliate of the University of Sydney).
Understanding Behaviour and Fragile X syndrome The second e-learning explains how anxiety and other factors can influence behaviours and impact a person’s support needs. It provides an overview of behaviours which are commonly associated with Fragile X syndrome and offers some practical support strategies.
The purpose of the work is to build an understanding of the health & wellbeing of adults with Fragile X syndrome as they grow older, and an understanding of support needs and gaps.
The learning content for both modules has been developed by FXAA with the National Centre of Excellence in Intellectual Disability Health and psychologist Dr Marcia Braden PhD who has expertise in learning & behaviours and Fragile X syndrome.
A key outcome of the study is evidence-based elearning resources for the disability and aged care workforce.
E-learning for support teams — available soon Development of two e-learning modules is almost complete. These e-learning resources reinforce that each person with Fragile X syndrome is unique and has their own set of strengths and challenges. They emphasise that as a support worker gets to know a person with Fragile X syndrome, they will be able to provide meaningful support and know what works best for the person in their care.
The e-learning will be available free online on the learning hub of the National Centre of Excellence in Intellectual Disability Health and FXAA will offer the e-learning to disability service providers for their inhouse learning management systems. Keep an eye on our website for the release date. Acknowledgement This work would not have been possible without the generous grant funding provided by the Henroth Group, whose support has enabled us to undertake this landmark work.
Understanding Fragile X syndrome The first e-learning covers the essentials about how and why Fragile X syndrome can affect a person’s daily life, and the way a person’s natural strengths can help build daily living skills.
Thank you We sincerely thank A/Prof Mary-Ann O’Donovan and the team at the Centre for Disability Studies; FXAA’s Lived Experience Panel for the project – Megan Levy, Brent Colgrave, David Nicoll It explains how Fragile X syndrome can affect brain function, the and Cynthia Roberts, who have guided every step; and the team way a person learns, and behaviour and emotions. It provides an at The Centre. We’re also tremendously grateful to Dr Marcia understanding of common challenges associated with Fragile X Braden for her work in developing the curriculum, and for guidance from the learning and innovation team at Sunnyfield syndrome and strategies which can be put in place to support these challenges. The connection between Fragile X syndrome and the learning and education group at Scope. and anxiety is explained in detail, together with an explanation of The information provided in the e-learning has been compiled in response to surveys of family members and disability support staff which identified some key areas the material should focus on. “Familiarise yourself with what this diagnosis is, including general information provided by Fragile X organisations. Take the time to get to know the individual you are supporting - while there may be similarities amongst each individual with Fragile X, each individual is unique. Work actively with families and those that know the person well.”
Photo credit: Daniel Linnet for FXAA Page 13
Research How do Teenage Siblings Find Information on Health Conditions?
This research is led by Maddison Smith (PhD Candidate) at the University of New South Wales, in collaboration with Siblings Australia, Genetic Alliance Australia and Belongside Families. What's involved: An online, anonymous questionnaire that takes around 10 minutes, asking about where siblings look for information about health conditions and support and how they use social media and AI tools to do that. Who can take part: Siblings aged 12–18 years, living anywhere in Australia, currently living with a brother or sister who has a long-term illness, disability, or health condition.
Approved by University of New South Wales Human Research
Growing up alongside a brother or sister with a long-term condition such as Fragile X Syndrome often builds siblings’ empathy, resilience, and a deep sense of care for their family. But it can also raise big questions and emotions that they don't always have support to work through. When reliable information and support isn't easy to find, siblings may turn to social media or AI tools for answers and not everything they find there is accurate or helpful. Right now, there isn't enough research on how siblings in Australia find information and access support, which makes it hard to know what kind of resources would help. The aim of this research is to change that. By understanding where siblings look for information about health conditions and support, we can build more resources designed around siblings' real experiences.
Siblings can go in the draw to win one of two $50 gift cards after completing the questionnaire. Their responses are completely anonymous and only used for this research project - even if they enter the draw, their name is never linked to their answers. If you as a parent or your child have any questions or concerns about privacy in relation to this survey, please don't hesitate to reach out to Maddison. If you are a parent of a child who's eligible, we'd love for them to take part. Please also pass this on to anyone else who might be interested. If you have any questions, Maddison is happy to help at maddison.c.smith@unsw.edu.au Access the Survey via QR code or link: https://unsw.au1.qualtrics.com/jfe/form/SV_cSErpUbE0BSGBj8
Approved by the University of New South Wales Human Research Ethics Committee (iRECS10937)
We want to hear what matters to you. Your ideas and feedback are important to us and will help guide how we support the Fragile X community into the future. We welcome your feedback on: What you value about FXAA What is working well and what could be improved Where you think we should place greater focus The feedback form will take around 10 minutes to complete. Three ways to provide your feedback by 21 SEPTEMBER: 1. ONLINE - Scan the QR code or link from www.fragilex.org.au 2. PAPER VERSION of the feedback form 3. BY PHONE with Liz or Wendy Please get in touch if you would like: * A paper copy posted to you * To provide responses by phone Contact Wendy Bruce at Page 14
A not so fragile story Inspired by her son Oliver, Melissa Barker has created a children’s picture book to help families, schools and professionals talk about Fragile X syndrome with greater understanding and confidence. When Melissa Barker’s son Oliver was diagnosed with Fragile X syndrome at the age of three, the news changed the direction of her family’s life.
“Sometimes the hardest part is simply knowing where to begin,” Melissa said. “I hope this book makes that first conversation just a little bit easier.” For Melissa, one of the most meaningful moments has been seeing Oliver’s pride in the finished book. “Watching him hold it with the biggest smile on his face, and seeing him sign copies for readers, made every challenge worthwhile,” she said.
Further genetic testing revealed Melissa was a Fragile X premutation carrier. Her father was later found to have the full mutation, despite having no obvious cognitive difficulties and completing trade and engineering studies. For Melissa, the experience reinforced an important lesson: Fragile X can look very different from one person to another. Years later, a simple question from Oliver’s Year 2 teacher led Melissa to create My Not So Fragile World. “Oliver’s teacher asked whether there was a resource she could use in the classroom to explain Fragile X syndrome in a way that young children could understand,” Melissa said. “When I realised there wasn’t one, I decided to create it.” Melissa chose a picture book because children often notice differences before they understand them. Through simple language, engaging illustrations and a relatable story, the book gives adults a gentle way to begin conversations about Fragile X, inclusion and supporting someone who may experience the world differently. The title also challenges assumptions about the word “fragile”.
“I hope one day he understands how many lives he has touched simply by being unapologetically himself.”
“People often hear ‘Fragile’ in Fragile X syndrome and assume it means someone is delicate or broken,” Melissa said. “But that’s not Oliver. His world is full of adventure, laughter, determination, challenges, friendships and love, just like any other child’s. Fragile X is part of his story, but it doesn’t define who he is.” Every page contains a piece of Oliver’s real life. His speech therapist, occupational therapist, paediatrician, teacher and friends all appear as characters in the story, recognising the people who have supported him and helped shape his world.
Supporting Educators in the Classroom
Illustrator Pia also spent time with Oliver and his family before beginning her work. “She got to know Oliver, not just his diagnosis, but his personality, his cheeky smile, his interests and all the little things that make him who he is,” Melissa said. “The illustrations captured far more than what Oliver looks like. They captured the heart of who he is.” The story explores Oliver’s strengths, the things he sometimes finds difficult and practical ways others can help. QR codes in the book also connect families and educators with trusted Fragile X information. Melissa hopes the book will help children ask thoughtful questions, give teachers confidence to talk about inclusion and reassure families that they are not alone.
A Classroom Companion Guide for the book supports educators who are sharing Oliver's story with their students. The aim is to give teachers a flexible resource they can adapt to suit their own students, teaching style and classroom. The Guide includes conversation starters, optional classroom activities, key themes and an accessible introduction to Fragile X syndrome, with a focus on kindness, inclusion and celebrating differences. It’s included in the Educators Bundle, which also has a hardcover copy of My Not So Fragile World and a Classroom Digital Edition for use on interactive whiteboards and classroom screens.
Find the book My Not So Fragile World ollidorebooks.com.au Melissa will donate $1 from every book sold to Fragile X Association of Australia
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Coming together to support our community A personal connection inspired BUILT and JAC Motors Australia to create a major raffle, raising an extraordinary $138,000 for FXAA. The team at Built and JAC Motors Australia has delivered an extraordinary show of support for the Fragile X community, presenting FXAA with a cheque for $138,000 following an incredibly successful NSW raffle. The campaign was deeply personal. Built employee Jason D’Amico and his wife, Belinda, turned to FXAA after their sons, Jax and Alex, were diagnosed with Fragile X syndrome. Jason has spoken about how quickly the family moved from the joy of a new baby to uncertainty about what the diagnosis would mean, and how FXAA helped them understand that they did not have to face the road alone. Built wanted to support one of its own, and to help the organisation that had supported the D’Amico family. Together with JAC Motors Australia, the company launched a raffle with a JAC T9 Oasis 4x4 dual-cab ute as the major prize. Built teams, suppliers and supporters promoted the campaign, bought tickets and donated, with funds raised matched by Built. The raffle was drawn 15th May 2026. This was not the first time the D’Amico family and Built have rallied behind Fragile X. Jason and Belinda have been active in awareness and fundraising for several years, with their colleagues repeatedly stepping forward to support the cause. The funds raised by the raffle will help FXAA continue providing counselling, the national Helpline, peer connection, webinars, education and advocacy for families across Australia. Congratulations to the winning ticket holders! Our heartfelt thanks go to Jason, Belinda, Jax and Alex, the teams at Built and JAC Motors Australia, the suppliers and project partners who supported the campaign, and every person who bought a ticket or shared the raffle.
Peer Support Sessions FXAA’s Family Counsellor, Liz Jewell, facilitates regular peer support sessions online for members of Fragile X Association of Australia. Peer Support can help ease feelings of isolation and create an opportunity to build connection with others who have a similar or different experience, share ideas, and information on FX related conditions. The sessions uniquely group individuals according to their lived experience, whether that be parents with young children/adult children of a similar age and stage, males or females with FXTAS or their carers, adults who have a sibling with Fragile X syndrome, or women with Fragile X syndrome. Each session runs for 1 hour on Zoom.
If you would like to participate in a peer support session and connect with others please contact Liz at liz@fragilex.org.au or call 1300 394 636 Page 16
Coming together to support our community FANTASTIC FUNDRAISING! Annual events supporting Fragile X: Manly Wharf Bridge to Beach paddle race (Sydney), Ballarat Dance Awards, Bullys Campout with incredible vintage vehicles in WA, Ellinbank Football & Netball Club’s Fragile X Round, and two new additions — Manly Fun Run and Beach2Beach! And our sincere thanks to Masonicare for matching funds raised through the Galston Garden Club Open Gardens. Thank you and Congratulations to everyone who gets behind the community!
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FRAGILE X AND HEALTH PROFESSIONALS—EDUCATION One of our key goals is improving health professionals’ understanding of the genetics of the spectrum of Fragile X-associated conditions and the varied health impacts experienced by some carriers of the Fragile X premutation. This year we were once again invited to profile Fragile X at the Healthed GP Education Days run by Dr Ramesh Manocha and the team. Across events in Adelaide, Brisbane, Melbourne, Perth and Sydney this has given us the incredible opportunity to have direct conversations with literally hundreds of GPs throughout the year. These events are also a good opportunity for us to discuss reproductive genetic carrier screening for Fragile X, and any additional genetic testing, genetic counselling or other supports that need to come into play for people who learn through the screening that they are carriers of Fragile X. Many thanks to genetic counsellors Grace and Sarah for supporting us at the Perth event by responding to the GPs’ questions about screening. We recently attended a Expo for 2nd year medical students at UNSW Sydney—the students showed lots of interest in the genetics of Fragile X and the varied impacts on daily living and health. Next month we’ll be attending the annual Australasian Menopause Society Congress in Sydney to profile FXPOI. As FXPOI affects around 20% of women who have the Fragile X premutation, Fragile X is a key consideration for menopause specialists.
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TALKING ABOUT FRAGILE X SYNDROME AT DISABILITY EXPOS ACROSS THE COUNTRY Being present at regional and metropolitan Disability Expos gives us an incredible opportunity to meet service providers who are working with a child or adult with Fragile X syndrome, and to talk about support strategies and information resources that will be helpful. This year Liz and some of our volunteer members have attended Expos in Adelaide, Cairns (two in Cairns!), regional Victoria, the Hunter Region in NSW, the Gold Coast, Townsville and Western Sydney. By the end of the year we’ll have been profiling Fragile X syndrome at Expos in Hobart, Canberra, Brisbane and Melbourne as well. We’re tremendously grateful to Social Impact Institute for having us on Board their Expo series at a not for profit price point, and inviting us to all their events!
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Help build knowledge about the Fragile X premutation Adults with the Fragile X premutation can join an international registry designed to accelerate research and improve future care.
details, optional demographics and optional health history.
The International Fragile X Premutation Registry is a secure online database with a collection of information about adults who carry the Fragile X premutation. During our recent FX Research Roundup webinar, the director of the Registry, Professor David Hessl, explained that the Registry was created to make it easier for researchers to connect with a large and diverse group of people who may be eligible for research studies about Fragile X-premutation associated conditions, such as FXTAS or FXPOI. The Registry was developed by clinicians, researchers, family representatives and Fragile X organisations from around the world, in partnership with the National Fragile X Foundation in the United States and the UC Davis MIND Institute. FXAA is a foundation partner of the Registry.
Researchers who want to recruit research participants from the Registry apply to the Registry’s governance committee, which includes Dr Lawrie Bott, FXAA president, and Dr Jonathan Cohen from Fragile X Alliance, alongside clinicians from the US. If a researcher’s application is approved, information about the study is sent out to registrants, who then choose whether to get in touch with the researcher. Learn more about the Registry, or Enrol: https://bit.ly/FXPMRegistry
Dr Hessl encouraged everyone who has a Fragile X premutation to consider joining the Registry to help accelerate research and improve future care. Participation is voluntary, and anyone aged 18 or over can join. Dr Hessl explained that registration involves completing an online survey that collects contact
Led by Dr Emma Baker at Flinders University, this study wants to hear directly from people with a developmental disability (including Fragile X syndrome, Autism, ADHD, and other genetic or intellectual disabilities), as well as their parents, carers, and family members. The survey asks about your experiences with sleep, how it's assessed, and most importantly, what you think future research should focus on. Your answers will help shape research priorities so that future studies address the things that genuinely make a difference to you & your family, not just what researchers assume matters. The survey is completely anonymous, takes about 15–20 minutes, and can be done in your own time, wherever suits you. You're free to skip any question, and you can stop at any point. Respondents need to be 18 or older to take part, but you're welcome to complete the survey on behalf of a younger child or family member, sharing their experiences alongside your own.
For many families in the Fragile X community, a good night's sleep can feel out of reach. Sleep difficulties are common among people with Fragile X syndrome and other developmental disabilities, and often have broader impacts on mood, learning, behaviour, and daily life for the whole family. Parents and carers, too, often feel the effects of broken sleep leading to fatigue and exhaustion. Despite how widespread these challenges are, sleep research in our community still has a long way to go, and researchers don't always know what matters most to people with lived experience. That's where Rest & Research comes in.
If this sounds like something you'd like to contribute to, we warmly invite you to take part. Every voice helps build a fuller picture of what sleep research and support should look like. If you have any questions, Dr Emma Baker is happy to help at ebaker@flinders.edu.au Take part: https://researchsurvey.flinders.edu.au/surveys/? s=88DCPPYR79P848P7 or Scan the QR code
Approved by the Flinders University Human Research Ethics Committee (Approval No. 10073) Page 22
Healthcare experiences of women with an FMR1 (Fragile X) premutation: Update on MCRI research Research work underway to explore the healthcare experiences of women with an FMR1 (Fragile X) gene premutation is a collaboration between researchers and clinicians from Murdoch Children’s Research Institute (MCRI), the University of Sydney and University of Melbourne Master of Genetic Counselling programs and the Fragile X community. The purpose of the research is to better understand how information, healthcare and support can be improved for people who receive a test result indicating they are a FMR1 premutation carrier. The studies involve confidential interviews conducted by a team at MCRI, in collaboration with genetic counselling students and the Fragile X community. FXPOI: In this study 16 women were interviewed about their experiences of living with FXPOI. The interviews were undertaken by Larissa Oshlaski as part of her Masters of Genetic Counselling coursework. The findings were presented at an International Conference on Fragile X Premutation Associated Conditions in 2025. A research paper describing this work is under review by the Journal of Genetic Counselling. The publication of this work will provide an opportunity for the findings to reach the genetic counselling community and contribute to ongoing improvements in counselling and care for women with the Fragile X premutation. The work was led by A/Prof Alison Archibald, A/Prof Belinda McClaren, Dr Claudine Kraan PhD and Dr Marta Cifuentes Ochoa PhD. Healthcare needs: Experiences and Views This study involved interviews with nine women who received a FMR1 premutation test result through reproductive genetic carrier screening. Receiving the test result had been their first introduction to Fragile X. The study aims to learn from the women’s healthcare experiences and identify opportunities to improve healthcare and support throughout their lives. The first component was undertaken by Master of Genetic Counselling student Mia Hanley who has now commenced work as a genetic counsellor and has been able to apply learnings in her counselling role.
Findings from this work were presented at the Human Genetics Society of Australasia (HGSA) Scientific Meeting in 2026 (photo) and are currently being prepared for publication. The second component of this study is being undertaken by Master of Genetic Counselling student Issy Parker and focuses on women who learned of their Fragile X premutation status through cascade testing after another family member received a Fragile X-related test result. The 10 interviews completed to date represent a wide range of lived experience. Issy is currently analysing the interview data, and we look forward to sharing findings in the future. The research was led by Dr Claudine Kraan PhD, Dr Marta Cifuentes Ochoa PhD, Dr Lisa Dive, Isabelle Danos, Prof David Amor and Dr Jonathan Cohen. Thank You: The research team sincerely thanks everyone who has taken part in this research. By generously sharing your stories and experiences, you are helping us understand the long-term impact of receiving an FMR1 gene premutation result. This will inform how information, counselling and healthcare services can better support individuals and families in the future. Your contributions are making a meaningful difference, and we are proud to be training the next generation of genetic counsellors in Fragile X research and care. Our goal is to work alongside the community to translate the findings from this research into accessible resources that increase awareness, understanding and recognition of health conditions associated with the FMR1 gene premutation.
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Fragile X Association of Australia Inc. Registered office: Suite 204 20 Dale Street, Brookvale NSW 2100 ABN 18 655 264 477 www.fragilex.org.auPageHelpLine: 1300 394 636 24