FX Newsletter December 2024

FX News December 2024

1

MESSAGE FROM THE PRESIDENT Hello everyone, With the summer break calling and the festive season upon us, I'd like to recognise everyone who makes the work of FXAA possible. To our supporters, volunteers, and dedicated Board members, thank you for a wonderful year characterised by great contribution, be that through your time, knowledge, financial support, fundraising efforts, expertise or advocacy.

Your passion, commitment, and belief in our mission inspire everything we do.

Each year our Annual General Meeting gives us the chance to reflect on our collective achievements and celebrate our community. At this year’s AGM on 1st December we recognised some truly inspiring individuals through our annual Achievement and Volunteer Awards. Their strength, resilience, and spirit is remarkable, and you can read more about them in this edition (pages 3 to 7).

We’ve attended several medical conferences to help educate GPs, inform relevant medical colleges and build relationships with groups such as the Human Genetics Society of Australasia to strengthen the reporting and follow up advice which should be provided to people undertaking the testing.

Developing knowledge of Fragile X in health care professionals, educators and service providers Our Adults & Ageing with Fragile X syndrome project is progressing well with the first stage of the research complete.

The next steps are to understand the trends emerging from the data ahead of developing learning resources for disability support and aged care teams to help enhance care of adults with Fragile X syndrome. Read more on page 15.

Looking ahead Throughout 2024 we've helped ensure people with Fragile X are connected, included, understood and empowered, and advanced As we look ahead to the new year, we welcome two new each of our four key strategic areas of focus. members to our Board – you can read more on page 19.

Sadly, we farewell Kate McKeand, Karen Lipworth and Connecting people living with Fragile X with the Fragile X Mandy Barker, who have stepped down after many years of community and providing support exceptional service. Their contributions have been significant – There are too many highlights to summarise when it comes to thank you for your efforts, Kate, Karen and Mandy. the connection and support provided to our community over the We still have one vacancy on the Board. If you’re interested or last 12 months. Head to pages 12,13, 16 & 17 to get a great know someone who might be, please reach out to Wendy or me. snapshot, and witness what I like to call the ‘joys of Fragile X’.

With 2025 around the corner, we’re prepared for both challenges There are many strengths and positive attributes within our and opportunities. Changes to the NDIS will undoubtedly impact wonderfully diverse community that we should always celebrate. some of our community members, and we remain committed to With this in mind, I’d like to share how proud I am of my own advocating for your needs. The potential for new research in son, Dan, and his growth and accomplishments which are a Fragile X syndrome and the FMR1 premutation continues to reminder of the power of perseverance and support. excite us, and our FX Webinar Series will bring fresh Providing information and education for people living with perspectives with an incredible lineup of speakers (page 18.)

Fragile X and the Fragile X community We’ve got another comprehensive year of outreach activities We’ve seen 22% growth in our membership this year and have planned including Disability Expos across many States – be sure extended our outreach support and connection efforts to more to check the calendar on page 16 – and don’t forget to check regional and metropolitan areas meaning we’ve empowered out or share the invaluable resources for educators and families even more people living with Fragile X to live their best possible that we have available via the FXAA website. These always life. You can read more right throughout this newsletter, and find come in very handy for those navigating the ‘back-to-school’ information about our support resources that are available for period or changes in care arrangements. More on page 14. families and support providers (page 18.) We continue to help I and so many others were saddened to hear of the passing of build knowledge about the Fragile X Premutation and on page 9 Prof Gillian Turner AO in August this year. Gillian’s research and you can read more about a study and an international registry. clinical work were groundbreaking and of immense impact for Influencing public policy, advocating for research and the Fragile X community. A tribute to Gillian is on page 10. building partnerships Lastly, for those celebrating Christmas, have a joyful, safe, and We continued our advocacy in a range of areas and have been restful holiday season. May there be many moments of pleased to see good uptake of the Medicare subsidy introduced happiness, laughter and cherished memories with loved ones. in November 2023 for Reproductive Genetic Carrier Screening.

With 1 in 20 Australian being a carrier for Cystic Fibrosis, Fragile Thank you for being part of this journey.

X Syndrome or Spinal Muscular Atrophy – this screening is Together, we are making a difference. providing more couples with information about their chance of having a child affected by a serious genetic condition.

Cynthia Roberts President, Fragile X Association of Australia Photo Credits: Cover: Luke & Logan Goss, Lana Pratt Photography. Back: Lindsay family, Daniel Linnet, LinnetFoto Fragile X Association of Australia Inc Registered office: Suite 204 20 Dale Street, Brookvale NSW 2100 ABN: 18 655 264 477 ARBN: 626 478 966 www.fragilex.org.au HelpLine: 1300 394 636 2

Ryan, who is 9 years old, was nominated by his Mum for his contribution to raising awareness about Fragile X syndrome in the school community.

each other! Ryan is protective of his brother and supports him in so many ways. She is so proud of her two young lads, and wanted to really acknowledge Ryan for everything he does to support his brother.

Bringing some awareness about Fragile X into the school was so amazing as well as necessary!

Most people encountered at school (students and teachers) have not heard of Fragile X. Ryan is keen to help organize a fundraiser at the school to raise funds for the Fragile X Association as well as further awareness in the school community. Ryan is an incredible young man.

Ryan’s younger brother Tyler, age 6, has Fragile X syndrome and is in kindergarten class at the school.

Ryan recently chose to talk about Fragile X for his public speaking task at school. He was selected for the finals which gave him the opportunity to present his speech to the whole school. Ryan then handed out FX flyers and ribbons to his peers and teachers.

Ryan’s Mum says Ryan and Tyler learn so much from

Here is Ryan’s speech: So, who has heard of Fragile X Syndrome? Anyone?

We have been learning some Key Word Sign language at home to help Tyler with his communication. It would be great if more people were familiar with Key Word Sign language. Then Tyler might be able to connect with more people.

How good would that be!

Well, you are going to know a bit about it by the end of my speech.

Most people have never even heard of it, let alone know much about it. So today I want to share with you - what I know.

Some simple Key Word Signs we use are (Ryan demonstrates Fragile X Syndrome is an inherited, genetic condition that causes these KWS’s) intellectual disability, also behavioural and learning challenges.

“Help please” Gosh!! Life can be hard enough, without these extra challenges, “Would you like something to eat” I reckon!!!

“I’m sorry” People with Fragile X are some of the strongest, most amazing people you will ever meet!

Oh, and let’s not forget to say, “Thank you” People with Fragile X are just like everyone else.

They love making friends and feeling connected to people, even though this can be really hard too!

I know this firsthand because my little brother Tyler has Fragile X.

Tyler loves going to the beach, playing Mario Kart and he is really I would love it if more people knew about Fragile X, or even a few good at shooting basketball hoops. simple Key Word Signs.

Oh! And he has the best sense of humour! Trust me!

Believe me, it would make a huge difference to kids in our school Tyler finds some things really hard, that a lot of us take for community who are living with Fragile X, if we understood them granted. Like being able to communicate. a little better.

Imagine if you couldn’t communicate…

So please, show your support to our peers and spread the word about Fragile X and how amazing these people truly are!!!

Like my little brother.

3

“For as long as I’ve known Oscar, he’s always been keen enough to try almost anything at least once. He pushes himself and has a go. He enjoys getting to know his community; he is a local superstar. In the last year I’ve seen Oscar try all sorts of activities that have left him with a new skill, more life experience and a wider group of friendly faces that say hello to him as we walk or ride around our community. He joined the local aqua aerobics group, and even instructed them on a few very fun occasions. He’s currently wanting to create an album and record his own music at a local

recording studio. He pushes himself physically, trying gymnastics. He has tried every ride at Jamberoo Park at least once! No job is too big for Oscar and his Ryobi chainsaw. He’s been a gardener for a friend’s holiday house and a reliable help for another friend who regularly needs help with clearing trees. Oscar continuously wants to try new things and build connections, not only in his community but outside.

His drive for more independence has pushed him to do all sorts of things and I know that he’ll continue to keep smashing his goals. “ Oscar’s support worker.

Since having more one to one support rather than attending a disability day centre Alex has gained confidence and independence. A few months ago, he started volunteering in an Op Shop one day a week, serving customers, sorting out stock and stacking shelves. Rather than only wishing to visit familiar places (including known stores) he is now willing to visit anywhere in the community. Alex now only attends the day centre one day a week for full day outings to different places each week including cafes and restaurants, which used to

concern him because of noise and smells.

Thanks to the NDIS and Exercise Physiology, and walks with support staff, his strength has built up.

Alex can now walk distances and carry heavy items.

Alex’s mother says the latter has been invaluable to his aging parents. Alex can cook meals and prepare his own packed lunches.

All in all, Alex is happy and content and attracts praise from everyone he knows because of his friendly and kind personality. Congratulations, Alex!

4

Hayden has accomplished much this past year, and his parents would like to acknowledge some of his achievements and strengths. Hayden can now swallow his medication in capsule form. Despite lots of unsuccessful attempts, he persisted and has now transitioned out of liquid form medications.

their loyalty cards. His parents are certain that if he wants to take up a job at Woolworths, they will snap him up!

Lastly, and most importantly, Hayden continues to be kind, courteous, caring and humorous.

The number of people who walk away with a smile on their face after meeting Hayden is too many to count.

Well done, Hayden!

Hayden is very capable at scanning and paying for groceries at the supermarket. This is a great help for mum and dad. He will also remind his parents to scan

Kieran has pushed himself in so many ways this year.

He continues to live in his own apartment, keeping everything clean and tidy. Earlier in the year he embarked upon a flight with his family for a holiday in Fiji. The local community in which Kieran lives adores him and he knows a lot of people. Their faces light up with a smile when they see Kieran approaching and go out of their way to say hello, often calling from a distance or from a moving car!

Kieran continues to work hard physically as part a team with the Bushlink program. As one of the original members of Bushlink he continues to improve the environment. Life wouldn’t be fun for Kieran without music! This year he travelled the distance and chaos into the city to attend both the Taylor Swift and Cold Play concerts. One of the highlights of Keiran’s achievements this year was receiving a bronze medal at the ski championships at Mount Buller.

We hope to see more of him on the slopes!

5

Shawn has discovered a love of kayaking, and has gone ahead leaps and bounds in his skills since joining a community kayaking club. Shawn has developed a lot of techniques by observing others on the water in their craft – really putting the Fragile X learning strengths to great use!

He is a valued member of the club, helps get the craft ready and packed away at the end of a session.

Shawn has been able to show some of the newer club

members the basics of kayaking. He is very aware of water safety, and has been known to help rescue other paddlers and their craft when they get into difficulty.

Shawn has developed a great deal of confidence and participates in competitions – although his mother says he is more interested in getting across the finish line to wave his paddle high in the air, rather than really worrying about whether he has won!

Fantastic work, Shawn.

Robert has been nominated for an award by his mother Pam for his wonderful achievement in working for the same organisation (Woolworths) for the past 38 years.

This is a very significant achievement! Robert has worked in the same store for that time, and is highly regarded by the staff team and all of the customers.

Robert knows the regulars and is extremely helpful —in particular carrying bags and helping the older customers.

Getting to work each day means taking a couple of different buses to and fro, and Robert navigates this well.

Robert’s mother Pam is proud of his dedication and hard work, and says Robert was thrilled to receive the FX Award certificate and the FX tshirt in the post.

Congratulations, Robert!

6

A huge shout out to Oliver Casey for doing a sterling job of raising awareness of Fragile X in his community—and beyond - this year. 12 year old Oliver and his new friend Fraggel the FX dinosoar were out and about in their community of Yass in the leadup to Fragile X awareness day on 22 July— at school, in street parades, and at the local park. They also travelled to Canberra to personally check out the landmarks that were lighting up orange for World Fragile X Day!!

Check out Oliver’s video on youtube

On top of the in-person campaign, Oliver has spread the word about Fragile X syndrome to thousands of people through a Facebook page called “Oliver’s Lawns”, which he uses to showcase the gardening work he does to support his community. Oli—and Fraggel—received a Victorian State Recognition Award, presented in State Parliament by MP Wendy Tuckerman, to recognise Oli’s efforts to support his local community and in raising awareness of Fragile X. Congratulations Oli. Love your work!

NEW ARTICLE | THE STRENGTHS OF FRAGILE X SYNDROME The article is available online: https://journals.sagepub.com/ doi/10.1177/27546330241287685

This recently-published article was written with the intention of providing a positive framework for a doctor, geneticist, genetic counsellor or other professional to deliver a diagnosis of Fragile X syndrome and to offer support.

The authors include Board members of Fragile X International (FraXI) and Fragile X Society UK. Jonathan Herring, one of the authors of the paper, says: "As a parent of Fragile X children there seemed to be a huge disconnect between the medical descriptions of Fragile X syndrome (FXS) and real people with FXS. The focus was on the "negative" aspects of FXS and there was nothing about the positives. People with FXS are often hilarious, kind, and fun-loving. But none of that appears in the standard descriptions of FXS. We teamed together with researchers from a range of disciplines and found that there is in fact sound scientific evidence that FXS is connected with a wide range of strengths. Our paper sought to highlight that while there are many challenges for FXS children and adults, there are also many strengths and joys. Focussing on what people with FXS can do, rather than emphasising what they cannot, can be a much more productive way for them to develop flourishing lives".

7

UNDERSTANDING THE FRAGILE X (FMR1) PREMUTATION

Fragile X-Associated Conditions Fragile X Premutation Associated Conditions

FXPOI Fertility

FXTAS Tremor Ataxia

FXAND

Other

Anxiety etc

Medical subclinical

Fragile X-associated Conditions are a family of inherited conditions caused by alterations (expansions) in the FMR1 gene (Fragile X gene) which is located on the X chromosome.

The name of the FMR1 gene is: Fragile X Messenger Ribonucleoprotein1 gene.

Fragile X-Associated Tremor Ataxia syndrome (FXTAS) is a late-onset neurological condition with symptoms which can include shaking (intention tremor), unsteadiness (ataxia) and memory problems. FXTAS affects an estimated 40% of male and 8-17% of female FMR1 premutation carriers.

Fragile X-associated Neuropsychiatric Disorders (FXAND) is a term used to describe a range of issues, such as anxiety and depression, associated with the FMR1 premutation.

About 1 in 250 women and 1 in 800 men are carriers for the FMR1 premutation. Premutation carriers are defined as those who have CGG repeats of 55-200 in their FMR1 gene, whereas Fragile X syndrome is defined as over 200 CGG repeats.

Other medical subclinical issues may be present.

FXVAC (Fragile X Various Associated Conditions) include non-psychiatric conditions which some FMR1 premutation carriers may experience, such as auto-immune conditions, chronic fatigue, fibromyalgia.

Several health conditions are known to be associated with the Fragile X premutation for some people, and these are covered by the universal term Fragile X Premutation Associated Conditions, also known as FXPAC.

FXPAC reference: Fragile X Premutation Associated Conditions (FXPAC). Front. Pediatr., 27 May 2020.

Online in full: https://doi.org/10.3389/fped.2020.00266

Fragile X-associated Primary Ovarian Insufficiency (FXPOI) can lead to fertility problems and early menopause for around 30% of female FMR1 premutation carriers.

Fragile X (FMR1) Premutation Update — Webinar Recording

In November 2024 Dr Jonathan Cohen MD presented a webinar / Q&A called FMR1 Premutation Update in which he discussed conditions associated with the Fragile X (FMR1) premutation and testing and screening for the FMR1 premutation.

Much of the material covered in the webinar was sourced from the publication Insight and Recommendations for Fragile XPremutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation.

The majority of the webinar addressed symptoms which can be associated with Fragile X-associated neuropsychiatric aspects (FXAND) such as anxiety, depression, and executive function difficulties. This discussion was followed by an outline of symptoms and risk factors for FX-associated Primary Ovarian Insufficiency and FX-associated Tremor Ataxia syndrome (which have been/will be addressed in other webinars focused on these topics.)

This paper was published in the journal Cells in September 2023.

The paper is available in full online on the MDPI open access journal website at this link: https://doi.org/10.3390/cells12182330 FMR1 Premutation Update recording is on FXAA channels:

8

BUILDING KNOWLEDGE ABOUT THE FRAGILE X PREMUTATION Fragile X (FMR1) International Premutation Registry—Facilitating Future Research The purpose of the Registry is to build a large, diverse group of Fragile X FMR1 carriers and their family members who are interested in contributing to inform future research on the FMR1 premutation and its associated conditions. Joining the Registry involves completing an online survey.

Participants receive annual updates about research developments in this field, and may also be contacted by the IFXPM Registry team about research studies they may be eligible to participate in, including future treatment studies.

For more information about the Registry: https://fragilex.org/professional-resources/premutation-registry/

Fragile X FMR1 premutation - a study of specific clinical & metabolic profiles of men and women Dr Danuta Loesch and her team in Melbourne are continuing a study which aims to better understand why some women carrying the FMR1 premutation may have certain general health problems, or develop some movement malfunctions such as tremors, and some others are symptom-free. The team is also interested in how the risk and progression of these problems differ between female and male premutation carriers. It is hoped that data from a large enough group of participants will help to identify treatment and/or prevention targets in the future.

if preferred. For people in other states, the testing can be organised in one of your local facilities.

The team hopes to have the opportunity for a followup appointment in 2-3 years.

The study, funded by the (US) National Institute of Health for several more years, is in collaboration with Prof Randi Hagerman (MIND Institute, UCDavis) and her team.

The study has received Human Research Ethics Committee approval from La Trobe University.

Participation: Women and men who are FMR1premutation carriers over the age of 50 are invited to contact the team about participation. Dr Loesch says “Participation involves a 2.5 hour in-person appointment. We will have a chat, assess your movement and various aspects of your thinking and memory, and will ask you to complete two questionnaires. A blood sample collection is optional.“

CONTACTS: Chief Study Investigator Dr Danuta Loesch (pictured) d.loesch@latrobe.edu.au 0407 687 145 Research Assistant: Anna Atkinson 0404 058 818

For people in Victoria, the testing can be conducted at La Trobe University, Bundoora, or in their own home

Understanding FXTAS This online booklet is a very good resource about FXTAS, intended for both family members and health professionals.

It describes in detail the genetics of the Fragile X premutation. It explains the cause, signs and symptoms of FXTAS, and the processes involved in testing and diagnosis of FXTAS. Produced by the Genetics Department of Emory University, Georgia, US. 9

Available in a range of formats: Read online: https://issuu.com/ fragilexaustralia/docs/fragile_x_web Download the (US-size) A4 pdf https://med.emory.edu/departments/ human-genetics/_documents/fragile-xmale.pdf

Print copies—available from FXAA. Contact: support@fragilex.org.au or call us 1300 394 636.

VALE

Professor Gillian Turner AO 1930 -2024 Professor Gillian Turner AO was a distinguished physician, an internationally acclaimed geneticist and a worldwide authority on the X chromosome. Gillian contributed fifty-four years of service to the field of paediatrics and genetics before retiring in 2010. Her work led to new screening techniques for genetic disabilities.

Among her most important work in the 1970s was contributing to the discovery of the gene which causes Fragile X syndrome and defining the importance of X-linked mental retardation. Gillian studied medicine at St Andrews University, Scotland, graduating in 1956. She trained in Paediatrics in Canada and London before emigrating to Australia. She became interested in developmental disability and genetics while working with her husband, Dr Brian Turner, at Johns Hopkins Hospital, Baltimore, Maryland in the US. She was a research fellow with the Children’s Medical Research Foundation in Sydney from 1970 to 1976 and the Director of the Tumbatin Clinic for Assessing Children with Disability at the Sydney Children’s Hospital for a decade. As Associate Professor of Medical Genetics at the Prince of Wales Hospital, Sydney between 1986 and 1994, Gillian established a genetic outreach service for regional areas of New South Wales and ran the NSW Fragile X screening program. In 1994 she became Director of Hunter Genetics and the GOLD (Genetics of Learning Disability) service and was appointed the first Professor of Medical Genetics at the University of Newcastle.

Gillian was recognised for her outstanding contribution to the field of Medicine in being made an Officer of the Order of Australia (AO) for her services to genetics in 1990. She was an honorary member of the Human Genetics Society of Australia.

Gillian published many research articles, and her book publications include Y the X? Unravelling intellectual disability and autism (2012) and Finding the Sapiens genes (2019).

Gillian also coordinated a memoir called Margaret’s Story: The unfolding discovery of the Fragile X gene (2021) which can be read online.

Gillian first met Margaret Cunningham in about 1970 at the Sydney Children’s Hospital when Margaret took part in research which Gillian and her team were conducting to identify a cause of intellectual disability in a group of children.

Gillian later diagnosed Margaret and John’s son, Sean, with Fragile X syndrome.

Prof Gill Turner with FXAA member Phill Eastbury in Newcastle , 2019

In the foreword to Margaret’s Story Gillian wrote: “Little did we know at the time how significant that meeting and her involvement in our research would be. However, my team and I weren’t the only ones pursuing research in this area.

Not long after we had started, Professor Grant Sutherland began studying fragile sites on various chromosomes in Adelaide, where he was working as Head of Cytogenetics at Adelaide Children’s Hospital (Women’s and Children’s Hospital, Adelaide).

A breakthrough discovery Professor Sutherland made in 1977 sparked a friendly competition between the two of us and we later collaborated, publishing a joint paper in 1985. We made a formidable team, jointly discovering the FMR1 gene mutation in 1991, a major scientific breakthrough. I am proud to say, Professor Sutherland and I led the world in both clinical and genetic aspects of X-linked intellectual disability and, most notably, Fragile X syndrome from the late 1970s until the early 1990s. The research we pioneered was continued by Professor Randi Hagerman in the United States, and several others.

Many advancements in the knowledge about Fragile X syndrome occurred over the years since I first met Margaret, and some of how this occurred is described in this booklet by a few of the key people involved, including Professor Sutherland, Professor Hagerman and myself. While we were motivated at the time by the need to find answers for families, we were also fuelled by the pure excitement of discovery.”

Gill with Prof Randi Hagerman and Jackie Boyle (GOLD Service) in Sydney

Gill with Mrs Margaret Cunningham AM

10

FRAGILE X SYNDROME CLINICAL TRIAL ENROLLING IN AUSTRALIA

The study is being conducted at a number of sites in countries including the United Kingdom, the United States and Australia.

The Australian study sites are:

Melbourne: Genetic Clinics Australia. Phone 03 9528 1910.

Study Contact: Melanie van Buuren travel@travelclinic.com.au Sydney: The Children’s Hospital at Westmead. Phone 02 9845 0336. Study Contact: Joanne.Booth@health.nsw.gov.au

Brisbane: Queensland Children’s Hospital Phone 07 3069 7457. Study Contact: Ellen Taylor Ellen.Taylor@health.qld.gov.au

New Zealand: Dr Andrew Marshall

FUTURE DEVELOPMENTS IN TREATMENTS FOR FRAGILE X SYNDROME Advances in understanding the genetic and molecular mechanisms of Fragile X syndrome offer hope for future treatments. Research is exploring gene therapies to reactivate the silenced FMR1 gene, restoring FMRP protein production, and targeted drugs to address symptoms like anxiety and hyperactivity. Clinical trials are testing medications that regulate mGluR5 receptors, and personalized medicine may provide more effective, individualized care. Although these treatments are experimental, ongoing research and clinical trials offer optimism for improving the quality of life for those living with Fragile X syndrome.

the results of the current trial will be announced in mid 2025 (Harmony Biosciences, media release Nov 2024).

The process of applying for FDA and the Australian Therapeutic Goods Administration (TGA) approval for drugs is a complex and rigorous procedure that requires comprehensive regulatory submissions, including clinical trial data to demonstrate a drug’s safety, efficacy, and quality. After preclinical testing, the drug sponsor submits an Investigational New Drug (IND) or Clinical Trial Application (CTA) to initiate clinical trials, which are conducted in three phases. Upon successful completion of these trials, a New Drug Application (NDA) or New Drug Submission (NDS) is filed for approval, followed by ongoing post-market surveillance to monitor the drug’s long-term safety.

The FRAXA Research Foundation in the US continues to support studies exploring drugs that might help Fragile X symptoms. In 2021, a study showed that the drug Zatolmilast which is used in Alzheimers disease can improved memory, vocabulary, and reading ability in adult males with Fragile X syndropme. Larger studies began in 2022 and it is hoped that further work could lead to Zatolmilast gaining approval from the FDA in the US as a treatment for Fragile X syndrome.

Results of the current trial are anticipated in 2025.

While the prospect of effective treatments for symptoms of Fragile X syndrome is closer than it has ever been, it will still likely be several years before they become available for use.

The FXAA Scientific Clinical & Research Committee, led by Prof Ted Brown, and the FXAA Board continue to keep abreast of developments in clinical trials and prospective treatments for Fragile X syndrome.

The only clinical trial enrolling participants in Australia is the RECONNECT study by Harmony Biosciences (Zynerba).

Improvements in the level of irritability and social avoidance were demonstrated only in certain individuals in the first clinical trial. Consequently, the FDA has requested the current follow-up trial to obtain additional data. It is anticipated that

Cynthia Roberts

11

A FEW HIGHLIGHTS FROM 2024!

12

Fundraising fun, World Fragile X Day, Expos, and educating GPs!

13

www.fragilex.org.au Fragile X syndrome has a well-researched and recognised learning style. When the strengths and challenges inherent to the cognitive profile of Fragile X are recognised, and appropriate accommodations are made to incorporate that style, children and adults with Fragile X syndrome will have successful learning outcomes. This includes learning throughout the lifespan from childhood right through adulthood. Understanding the Fragile X learning style and making appropriate accommodations is essential for success.

It’s important for educators and support teams to understand that while females with Fragile X syndrome are typically differently affected than males, they may also experience Fragile X-associated anxiety/hyperarousal, some developmental delays, executive functioning difficulties, difficulty with abstract concepts, low muscle tone and sensory processing problems. The webinar recording Females and Fragile X syndrome presented by Dr Braden for FXAA is highly recommended for educators and teams who are supporting a young or adult female living with Fragile X syndrome.

Overview The neurobiology of Fragile X syndrome and consequent developmental, anxiety and sensory sensitivities associated with Fragile X require active accommodations, planning, and management to achieve success in daily living and learning.

How to structure a learning environment to account for the challenges AND capitalise on the strengths associated with Fragile X syndrome?

Strategies for success will include Predictability, Choices, Structured tasks, Calming strategies, Time for sensory diets and movement, strong and consistent use of Visual aids.

However, alongside this, it’s important for educators and support teams to know that children and adults with Fragile X syndrome have many strengths which when harnessed will facilitate successful learning.

Find excellent resources on our website:

The daily living challenges for many individuals living with Fragile X syndrome are wide-ranging. Such as Fragile Xassociated anxiety/hyperarousal, short-term memory & attentional control, hyperactivity, weaker executive function, sensory processing problems, developmental delays and, for most males with Fragile X syndrome, intellectual disability. For females, anxiety/hyperarousal, masking and avoidant behaviours present challenges. Some individuals with Fragile X syndrome may exhibit behavioural problems such as repetitive actions, outbursts and difficulty with socialising. A diagnosis of autism spectrum disorder may also apply for around 50% of males with Fragile X, and fewer females.

THE ESSENTIALS: Short videos, downloadables and podcasts.

DEEP DIVE: Webinar & workshop recordings, podcasts, and other resources providing more comprehensive information for families, educators and support teams.

Psychologist and former educator Dr Marcia Braden PhD is the presenter in many of the resources. Based in the US, Dr Braden is internationally recognised as the pre-eminent specialist in learning and behaviours associated with Fragile X syndrome.

Dr Braden has presented in Australia many times in person, and most recently has become a regular presenter for our FX Webinar Series.

Learning strengths associated with Fragile X syndrome can facilitate successful learning outcomes.

Strengths include: good long-term memory, associative learning ability, responsiveness to high-interest materials and modelled behaviours, and highly visual & gestalt learning style.

14

AUSTRALIAN RESEARCH STUDY Our research study Fragile X Care | Adults & Ageing will help identify the unique support, health and wellbeing needs of adults with Fragile X syndrome as they age.

This study is a 3-year project funded by a philanthropic grant from the Henroth Group.

We’ve partnered with the Centre for Disability Studies, a not for profit affiliate of the University of Sydney, for the duration of the study. The first phase of the work has involved surveys, interviews with healthcare professionals with expertise in Fragile X syndrome, and a focus group.

The project team is so grateful to everyone who took part in the surveys online, in print or by phone. In particular, the significant time commitment involved in completing the survey for one or more family members, is sincerely appreciated.

Analysis of the data from the surveys is underway. Early in 2025 findings from the survey responses will be presented to our members as a webinar, on our website, in our next newsletter and in other forums.

In response to the findings from the surveys, interviews and discussions, effective education and training resources will be developed to better support disability and aged care teams in their understanding of Fragile X syndrome.

Many thanks to the FXAA members who are participating in the Lived Experience Expert Panel, which is helping to guide the project.

If you have any queries about the study, please get in touch with Wendy Bruce wendy@fragilex.org.au

INVITATION TO CONSIDER DONATING TO SUPPORT FRAGILE X ASSOCIATION OF AUSTRALIA If you are able to provide support, your generosity will help FXAA ensure people living with Fragile X are connected, included, understood and empowered.

WAYS TO DONATE

Your donation (no matter how big or small) will help us maintain and deliver our:

•

website https://www.fragilex.org.au

•

Counselling support service

•

•

FXAA Helpline

direct deposit contact support@fragilex.org.au

•

Educational webinar program

•

scanning the QR code

•

Advocacy work

•

Peer connection and referrals

•

Improving awareness of Fragile X syndrome and Fragile X-associated conditions

Donations can be made by

Donations of $2.00 and over are tax-deductible.

All support makes a difference.

15

DISABILITY EXPOS 2025 | IMPROVING UNDERSTANDING OF FRAGILE X We’re looking forward to participating in Disability Expos again in 2025. These events provide a great opportunity for us to talk to service providers about Fragile X syndrome, learn about the services and supports in different areas and meet our members.

If you get to any of these Expos in 2025, drop by the FX booth and say Hi!

Liz, our Family Support Counsellor, will be at most of these events and Cynthia Roberts will attend the Geelong Expo 14-15 March.

16

More highlights from late 2024! Liz, our Family Counsellor, caught up with families in Perth, Canberra, Sydney, Melbourne and the Gold Coast. Oli introduced the world to Fraggel. The Ellinbank Football & Netball Club hosted another Fragile X Round & fundraiser to honour Cal! Australia lit up for World Fragile X Day on 22 July.

Liz and Wendy presented at the NSW Genetic Counsellor Education Day.

17

2025 | WEBINAR SERIES Medications & Fragile X syndrome

20 February 2025

FXPOI : What do I Need to Know?

March 2025

Disability Estate Planning

15 May 2025

Special Disability Trusts

29 May 2025

Fragile X Research Roundup

July 2025

FX FMR1 Premutation Update

31 July 2025

The FX Webinar program for 2025 is set to include a range of new topics, as well as revisiting some of the recent webinars that were very well-received.

We’re planning to present new webinars on the management of FXTAS, on the Prader-Willi traits which some children with Fragile X syndrome experience, and on next steps for parents in navigating care and health supports for a child with a new diagnosis of Fragile X syndrome. In response to requests from our members, we will present the webinar on FXPOI (Fragile X-associated Primary Ovarian Insufficiency) again, as well as the webinar with an IVF specialist on IVF/Pre-implantation Genetic Diagnosis for Fragile X premutation carriers. This gives a further opportunity for everyone to participate in the Q&A segments with the presenters. We’ll also take another look at areas related to planning for the future for an adult child with Fragile X syndrome, such as Microboards, Circles of Supports, Disability Estate Planning and Special Disability Trusts.

Presenters in the 2025 FX Webinar Series include psychologist Dr Marcia Braden PhD, paediatrician Dr Honey Heussler, Dr Jonathan Cohen from Fragile X Alliance, occupational therapist Bev Kadish, solicitor Margaret Duncan from Duncan Legal, endocrinologist Dr Amanda Vincent and IVF specialist Dr Mark Livingstone.

Keep an eye out for dates and links to register for the webinars — on the FXAA website, social media, and by email.

FX VIDEOS AND PODCASTS - RESOURCES FOR FAMILIES & SUPPORT PROVIDERS

Visit the FXAA youtube and podcast channels for a wealth of information about Fragile X.

Fragile X FMR1 premutation •

Testing and screening for Fragile X

These video and audio resources are ideal for parents, family members, educators, health professionals, disability support and aged care team members to get up-to-speed —or as a refresher.

•

Health concerns associated with the Fragile X FMR1 premutation

•

Pre-Implantation Genetic Diagnosis

•

FXPOI—What do I need to know

You’ll find recordings from Fragile X webinars and webinars, together with videos made for FXAA.

Many thanks to Zynerba Pharmaceuticals and the Qantas SideBySide Program for educational grants which have supported the production of many of our webinars.

Fragile X syndrome: •

Understanding Fragile X— our classic explainer

•

Supporting the learning style associated with Fragile X

•

Understanding anxiety and behaviours in Fragile X

•

Supporting independent living skills for adult males with Fragile X syndrome

•

Supporting the challenges some females with Fragile X syndrome face in daily living

•

Sensory processing disorders associated with FX 18

OUR TEAM | FXAA BOARD 2024-2025 At the FXAA Annual General Meeting on 1 December 2024, serving Board members Cynthia Roberts and Prof Ted Brown were re-appointed to the Board for 2-year terms and Andrew Fleming and Dr Lawrence Bott were newly appointed.

Dr Cynthia Roberts PhD | President Cynthia is a trained geneticist and ran a clinical cytogentetics service in NSW particularly focusing on prenatal testing. Cynthia worked at Genea as both Genetics Director and Chief Risk Officer. She served as President of

the Human Genetics Society of Australasia and has been involved with FXAA for over 25 years, since the time her now-adult son, Daniel, was diagnosed with Fragile X syndrome.

Cynthia lives in Kiama, NSW, and joined the Board in 2020.

Prof W Ted Brown | Vice-President Prof Brown is the retired director of the NY State Institute for Basic Research in Developmental Disabilities. Much of his 35-year research career has focused on Fragile X syndrome and autism.

Prof Brown was the first to describe a relationship between autism and the Fragile X syndrome.

His team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X. Prof Brown chairs FXAA’s Scientific, Clinical & Research Advisory Committee. Prof Brown joined the Board in 2018 and is immediate past President.

He is currently based in New York.

Adam Lawrence-Slater | Treasurer Adam works in financial planning and data insights in the airline sector and for several years was with an organisation which provides an online platform that enables people with disability to find the right support workers for them.

Alison Evans | Secretary Alison is a corporate communication professional with experience in journalism, media and public relations. After finding her health support providers to be lacking knowledge about Fragile X following the discovery of her premutation carrier

Adam and his wife Charlotte have a son, Joshua, who has Fragile X syndrome. Adam lives in Sydney and joined the Board in 2019.

status, Alison is passionate about increasing awareness of Fragile X within the general public and medical communities alike.

Alison lives in Newcastle, NSW, and joined the Board in 2022.

Belinda DÁmico Belinda is a registered Chartered Accountant, although not currently practising since the diagnosis of Fragile X syndrome for her two young boys. Belinda currently works part-time as a disability support worker.

Belinda is extremely passionate about raising awareness of Fragile X syndrome and she is keen to support the Fragile X community.

Belinda lives in Sydney and joined the Board in 2021.

Andrew Fleming LLB Andrew is a lawyer who currently works as a Senior Manager within the Investigations and Enforcement Division of the Australian Securities & Investments Commission in Adelaide. Andrew has experience working in regulatory compliance and

civil litigating at UBS Bank and, before that, as a lawyer for the Financial Conduct Authority in the UK. Andrew and his family lived in London and New York before moving back to Adelaide in 2021.

Andrew was appointed to the Board on 1 December 2024.

Dr Lawrence Bott MBBS (Hons), FRCPA, GAICD Lawrie graduated in Medicine and specialised in Pathology. Lawrie has recently retired as Chief Medical Officer of Sonic Healthcare Australian Pathology and currently works part-time as a Consultant on Expert Systems. He is the immediate Past-President of the Royal College of Pathologists 19

of Australasia.

Throughout his career Lawrie has been involved with issues relating to Genetic Pathology testing, including Fragile X. Lawrie was appointed to the Board on 1 December 2024.

20