FX News | December 2023 by Fragile X Association of Australia

FX News December 2023

LETTER FROM THE PRESIDENT, FRAGILE X ASSOCIATION OF AUSTRALIA Hello Members and Friends of Fragile X Association of Australia

At the FXAA Annual General Meeting last month, four members were reappointed to serve on the Welcome to our 2023 newsletter reflecting on some of the news Board for a further 2 years in a voluntary capacity. and events of this past year, and looking to what’s on the horizon I’m delighted to have the chance to continue for 2024. This is our first newsletter in a while, so I’d like to take alongside Adam Lawrence-Slater (Treasurer), the opportunity to introduce myself to you, if we’ve not already Karen Lipworth (Secretary), Belinda DÁmico and met through the Fragile X community over the years. Mandy Barker, together with Prof Ted Brown, Kate McKeand and Since November 2022 I’ve had the privilege to serve as the Alison Dillon, in working towards improved service and outcomes President of FXAA, taking over the reins from Prof Ted Brown, for everyone who is affected by the Fragile X premutationwho remains on our Board as Vice-President. associated conditions or Fragile X syndrome. Our Board bios are at page 18. A bit about me— I've been associated with the organisation since At the AGM the Board put forward a proposal to amend the FXAA 1996 when my son Daniel was diagnosed with Fragile X Constitution. The Constitution had remained unchanged since syndrome at 18 months of age. Daniel is 29 now, and faces 2013. The proposed amendments included some minor changes some significant challenges in daily living. He has non-verbal to language (eg: recognizing “Fragile X Premutation Associated communication, severe anxiety, and epilepsy. My involvement in Conditions’), reflecting changes in administrative and regulatory FXAA began with joining the organization’s management processes, and setting the number of members required for an committee where I contributed by producing newsletters, AGM to 20 members (rather than 5% of our ever-growing member advocating for Fragile X, delivering talks, and fundraising. base). These changes were unanimously approved. The FXAA My professional background spans genetics, laboratory Constitution 2023 is now on our website. chromosome testing, and risk management in a fertility clinic. During my career, I successfully lobbied for the inclusion of a The FXAA Annual Report 2022-2023 gives an Medical Benefits Scheme item number for Preimplantation excellent report of our support programs, Genetic Diagnosis (PGD). In 2020, after retiring, I joined activities, advocacy and finances over the the FXAA Board. past financial year. It also showcases our 2023 has of course seen significant announcements in various members’ involvement at Disability Expos, areas that affect members within the Fragile X community. Healthed events, fundraising and more. Most recently, on 7th December, the NDIS Independent Review So I commend it as a good read online! was made public. After more than a year of consultation with the https://issuu.com/fragilexaustralia/docs/ disability community, service providers, professionals and the fxaa_annual_report_2023_issuu public this was as expected a substantial report recommending significant change to the NDIS remit and processes over a 5 year Turning to 2024. The Board, Wendy, Liz and I are really looking period. The FXAA Board will review the report closely and, when forward to what the new calendar year will bring. Our FX webinar the Federal Government and States/Territories seek feedback on program will go from strength to strength, with grant funding the recommendations, we will look to provide feedback for and support from Zynerba Pharmaceuticals and Qantas Foundation. with our community. Liz will continue to maintain a very active counselling and peer The report can be read at https://www.ndisreview.gov.au/ support & connection program for our members. resources/reports/working-together-deliver-ndis Several months ago, on 29 September, the Disability Royal Commission (DRC) into Violence, Abuse, Neglect and Exploitation of People with Disability published its findings. The DRC made 222 recommendations on ‘how to improve laws, policies, structures and practices to ensure a more inclusive and just society that supports the independence of people with disability and their right to live free from violence, abuse, neglect and exploitation’. Fragile X syndrome is referenced in Volume 9: First Nations People with Disability. FXAA member Narelle Reynolds spoke at one of the DRC public hearings about the discrimination she and her family faced in securing a diagnosis of Fragile X for her children. She also spoke about the barriers she faced as she navigated the health system and advocated for her sons, despite being a health professional herself. The Federal Government is seeking wide-ranging feedback from the general community, support organisations and other groups on the DRC recommendations. See page 6. FXAA will provide feedback and we encourage everyone who has a connection to Fragile X to consider doing so.

From early 2024, our research study Fragile X Care | Adults and Ageing will be in full swing with questionnaires, interviews and focus groups. This is the first Australian study on adults and ageing and Fragile X syndrome. Our partner in this project is Centre for Disability Studies, a research affiliate of University of Sydney. Over the course of 3 years we’ll explore the support needs and support gaps for adults living with Fragile X syndrome, develop online educational modules about Fragile X for disability and aged care support teams, and develop recommendations for care. This important study has been made possible by a philanthropic donation from Henroth Group, and the Board and I are sincerely thankful for this critical support, without which the study would not be possible. See page 7 for more about this. Finally, I wish you and your loved ones all the best for the holiday season and, if you celebrate Christmas, a Merry Christmas, and a Happy New Year. Kind regards,

Dr Cynthia Roberts, PhD President, FXAA

FAMILY STORY — SILS: LIVING MY BEST LIFE Noah and his brother Zach live together in their family home. This year Noah has learnt lots of independence skills. He enjoys going grocery shopping each week. He has learnt to find items on his list in the aisles, stack them in trolley and pay, whilst keeping to a budget.

At home Noah has grown tomatoes in his vege patch. With summer coming on, he has planted watermelons which are growing by the minute. Noah has learned cleaning routines and always is prepared with either his rubber gloves or disinfectant spray. He helps get washing off the clothes line and puts it away in drawers. Noah has a busy life with volunteering at Meals On Wheels. He loves the circus and was lucky to see them when they arrived in town. Noah works hard with Michelle, his exercise physiologist. He’s achieved personal bests in the gym and even has managed to get the blood pressure cuff on his arm, allows it to be pumped up and hopefully one day will be OK with leaving it long enough to get a reading. Noah loves being creative with paper, glue and scissors. Check out his Facebook page Noah Arts for his unique creations. Noah loves dressing up as superheroes and attended Capricon where he chose to dress as Superman. He wore his suit all day with pride, shaking hands with many fans! Noah and his brother Zach have adjusted to their new life. They enjoy being in their own space and the different strengths of workers that support them.

Noah’s brother Zach is building a bar for the man cave. I’m sure there will be great celebrations to come as they grow into their new lives together as young adults. Written by Liza Roberts. FX News Cover Photo: Noah

ACHIEVEMENT AWARDS 2023 CONGRATULATIONS EVERYONE! A highlight of the FXAA Annual General Meeting each year is the presentation of Achievement Awards. These Awards are intended to recognise and encourage those nominated for their personal achievements, and to inspire others. On Sunday 19th November Rosie Donald and Liz Jewell did a fabulous job presenting the Achievement Awards for 2023. Each Award recipient was given a framed certificate and a limited edition Unique FX tshirt which has a colourful logo designed by FXAA member Jeremiah in honour of his siblings.

NICKY Nicholas, affectionately known as Nicky, is 40 years old. He enjoys living with his older sister, brother-in-law and their two children, a seven year old niece and one year old nephew. Nicky stepped outside his comfort zone for the very first time at 35 years of age to attend his first ever day program with AFFORD. He now partakes in regular activities: ten-pin bowling, cooking, grocery shopping, the cinema, Heroes With Ability programs, travel training and gets into water without a fear of it. In the past 6 years in particular Nicky has really thrived. He is living his best life.

ALICE This year, despite many health challenges, Alice has learnt how to use a communication device to communicate her needs and wants. She has become particularly good at selecting ice cream and McDonalds and also asking to watch her favourite shows. Well done Alice!

JOSHUA Joshua has made big steps forward in his travel training. He can now travel independently from his family home in inner Sydney to another suburb on the bus, get dinner, and come home safely. He was also awesome on his first international trip to Thailand this year.

MERRYN Merryn has gone from strength to strength

since starting home schooling. This year is her first year of high school and she has bravely tried a number of electives. She works very hard every day and has a great attitude. Her family is very proud of her and love her joyful smile and big hugs. Merryn participated in her dance school concert for the 4th year running this year. She did an amazing job in ballet, musical theatre and in the finale.

PATRICK Patrick continues to grow in

confidence and talent with his involvement with a dance studio, loving Hip Hop, Singing and Musical Theatre. In July, he went with 22 of his mainstream dance studio classmates to California for a Disney Dance Tour and to perform in front of audiences at Universal Studios Hollywood, Disneyland Anaheim and LA. It was a very special and inclusive opportunity for Patrick and he was elated to be a part of this, shining like the star he is!

LILY Lily was nominated by her friends for her immense personal growth over the past couple of years. This year she made a huge decision to move to another state. Her friends are all so proud of Lily for always trying her best, being a supportive friend and overall a kind and loving person!

KIM Kim was nominated for an Award for doing an amazing job with her children Charli and Max. She copes with everything so well, notwithstanding her own health problems, and she always commits 100%. 4

VOLUNTEER AWARDS 2023 It takes a village, as the saying goes…… The generous support of VOL:UNTEER AWARDS were announced at the AGM on volunteers means that, in turn, FXAA can support our community 19 November. Congratulations to Kate Stokes, Daniel Linnet, to the best of our ability, educate service providers and the public Kayla O’Dea, Shante Ripper-Sebes, Ricky Crowe. about Fragile X, and advocate for the best outcomes for people Special thanks to Kate who has tirelessly woven magic with her living with Fragile X related conditions. graphic artwork in support of FXAA’s awareness programs, fundraising initiatives, website and social media for 7 years now. Our volunteers contribute their time, expertise, skills and talents Thanks to Daniel who is creating a gallery of photographic in various ways right throughout the year. portraits of FXAA family members to support our awareness Such as: attending Fragile X exhibition stands at educational programs, publications, website and advocacy work. events for health professionals and at disability expos; Thanks to Ricky for being a fierce advocate for Fragile X creating graphic designs for our website, publications and awareness, and handcrafting toys for our Raffle. awareness programs; professional photography for our website Thanks to Shante for representing FXAA at the Healthed GP and programs; social media support; legal and financial education events in Perth every year. guidance; helping with administrative work in our office; Thanks to Kayla for coming in to our office regularly to help with fundraising; serving on the Board, and much more! arrangements for our merchandise, postage, and events.

THANK YOU TO EVERYONE WHOSE VOLUNTEER WORK HELPS US SERVE THE FRAGILE X COMMUNITY

On 7 December 2023, the Australian Government released the final report of the Independent Review into the National Disability Insurance Scheme. The Review was intended to examine: • the design, operations and sustainability of the NDIS covering issues outlined in the fullScheme bilateral agreements between the Commonwealth government and states/territories • ways to build a more responsive, supportive and sustainable market and workforce. The Review was conducted by a government-appointed Independent Review Panel, co-chaired by Prof Bruce Bonyhady AM and Ms Lisa Paul AO PSM. The Review received almost 4,000 submissions from individuals and disability support and other organisations, including Fragile X Association of Australia. The Review’s “Working together to deliver the NDIS” report has made 26 recommendations with 139 actions which, taken as a ‘package’, are intended to form a blueprint for change and renewal of the NDIS – a process described by Minister for the NDIS Bill Shorten as “NDIS Mark 2”. A timeframe of 5 years was proposed for full implementation of the recommendations. In announcing the Report, Minister Shorten reiterated that no changes would be immediate, and there will be a period of transition for people already in the scheme. The Full Report is a substantial document, at 338 pages, and has an Easy Read version. The NDIS Review website also has a Short Guide to the recommendations and what the changes would look like for participants, as well as 10 Fact Sheets and a FAQ section. NDIS REVIEW REPORT SHORT GUIDE FACT SHEETS FAQ

https://www.ndisreview.gov.au/resources/reports/working-together-deliver-ndis https://www.ndisreview.gov.au/resources/reports/our-final-report-guide-people-disability-and-their-families-2023

https://www.ndisreview.gov.au/resources https://www.ndisreview.gov.au/resources/fact-sheet/frequently-asked-questions

The Disability Royal Commission (DRC) was established in April 2019 in response to community concern about widespread reports of violence against, and the neglect, abuse and exploitation of, people with disability. It ran for 4 years and investigated: • preventing and better protecting people with disability from experiencing violence, abuse, neglect and exploitation • achieving best practice in reporting, investigating and responding to violence, abuse, neglect and exploitation of people with disability • promoting a more inclusive society that supports people with disability to be independent and live free from violence, abuse, neglect and exploitation. Final Report In September 2023 the DRC published its findings in 12 volumes. The report made 222 recommendations on ‘how to improve laws, policies, structures and practices to ensure a more inclusive and just society that supports the independence of people with disability and their right to live free from violence, abuse, neglect and exploitation.’ Fragile X syndrome is referenced in Volume 9: First Nations People with Disability in relation to the experiences of FXAA member Narelle Reynolds and her family in seeking a diagnosis and appropriate health supports and services. HAVE YOUR SAY The Federal Government is seeking feedback from the community on the DRC’s recommendations before making a formal response to the Report. Feedback can be provided by a completing a short ONLINE QUESTIONNAIRE or uploading a SUBMISSION. The questionnaire asks which 3 recommendations you support and why, and which 3 recommendations you do not support and why. Fragile X Association of Australia will provide feedback and we encourage everyone who has a connection to Fragile X to consider doing so. This Feedback process closes 19 January 2023. FINAL REPORT BRIEF GUIDE FEEDBACK QUESTIONNAIRE

https://disability.royalcommission.gov.au/publications/final-report https://disability.royalcommission.gov.au/publications/brief-guide-final-report-brochure https://engage.dss.gov.au/drcausgovresponse/ 6

RESEARCH STUDY: ADULTS AND AGEING WITH FRAGILE X SYNDROME Fragile X Care | Adults and Ageing is a 3-year project collaboration between Fragile X Association of Australia and Centre for Disability Studies (CDS). CDS is a not-for-profit research affiliate of the University of Sydney.

What is Fragile X Care | Adults and Ageing about? This is the first Australian study on adults and ageing and Fragile X syndrome. It aims to find out what types of support are in place for adults living with Fragile X syndrome, and what supports are needed into the future. The ultimate goal is enhancing the quality of life for adults with Fragile X syndrome. The research findings will provide the first-ever contemporary picture of the current and future needs of adults with Fragile X syndrome in Australia, to help inform and build workforce capability, and policy, practice and advocacy across the relevant support areas and care settings. Over the course of 3 years we’ll: • Conduct surveys and interviews to explore the support needs of adults around Australia who are living with Fragile X syndrome and any gaps in supports and services

Dr Mary-Anne O’Donovan and Holly Dennehy from CDS together with FXAA member David Cox-Taylor and Liz Jewell, FXAA Family Support Counsellor.

What’s next? From early 2024, the research study will be get into full swing with questionnaires for parents/carers of adults with Fragile X • Develop online educational modules about Fragile X syndrome syndrome, and questionnaires for support team staff members. for disability and aged care support staff The questions asked will be about the supports currently being provided to the adults with Fragile X syndrome in their care, and • Develop recommendations for care and future planning whether other supports could be helpful to them. The Fragile X Care | Adults and Ageing project started in July 2023 and will conclude in June 2026. It is funded by a There’ll be an opportunity for family members to take part in philanthropic grant awarded to FXAA by the Henroth Group. interviews or a focus group. So far Wendy Bruce, Liz Jewell, Prof Ted Brown and Cynthia Roberts have been working with A/Prof Mary-Ann O’Donovan and Holly Dennehy from CDS to understand what other research has been done internationally on ageing and intellectual disability, and to plan our own research study. We’ve formed two small working groups who will help guide the approach the project will take and provide a lived experience perspective to the research study design and in other areas. The Lived Experience Expert Advisory Panel is a group of five people, all of whom are members of FXAA: Megan Levy, Narelle Reynolds, David Nicoll, Brent Colgrave and Cynthia Roberts. The Panel has been meeting over Zoom. The Expert Steering Group for the project is made up of medical professionals with expertise in Fragile X syndrome and intellectual disability. Its members: Emeritus Professor Stewart Einfeld (University of Sydney), Dr Jonathan Cohen (Fragile X Alliance), Dr Seeta Durvasula (UNSW, and former head of NSWbased intellectual disability health clinics), and Dr Fintan Sheerin (Trinity College Dublin, Ireland). The team has met via Zoom.

We’re also planning some opportunities for adults with Fragile X syndrome to talk to the research team. Health professionals and others with specialist knowledge of Fragile X, such as Professor Randi Hagerman and Dr Marcia Braden, will be asked about their views on supports, care needs and planning for adults with Fragile X syndrome. Anyone (aged 18 or over) who has an adult family member living with Fragile X syndrome will be able to take part in the research study. Adults living with Fragile X syndrome and service providers supporting an adult with Fragile X syndrome will also be able to participate. Questions so far? If you have any questions about the Fragile X Care | Adults and Ageing project so far, please get in touch with Wendy or Liz. Email wendy@fragilex.org.au or liz@fragilex.org.au or call us on 1300 394 636. More information …. We’re really looking forward to sharing more information about the research study early in 2024. Keep an eye out on our website, social media and emails sent to our members.

We’ve also been talking to other groups who, like us, are members In the meantime, a video of Dr Mary-Ann O’Donovan, Executive of FraXI (Fragile X International) to see if we can collaborate to Director of CDS, provides background on why better understandcreate some common research questions that other ing of the needs of Fragile X adults as they age is so important. countries could use for a similar survey on adults and ageing. This could help form an international picture of what life is like for adults living with Fragile X syndrome and what supports VIDEO https://www.youtube.com/watch?v=JLq5Aqk7NMo work best. 7

FUNDRAISING RAFFLE The Raffle was drawn on Saturday 9th December, with all 8 prizes going to excellent new homes! Many thanks to everyone who supported the raffle, and very special thanks to Ricky Crowe. Ricky designed, handcrafted and donated the 1st and 2nd prizes—the wooden bike with Harley Davidson decal and the reversible seesaw. Ricky's original designs, and his dedication to good old fashioned craftmanship and attention to detail, mean that the equipment he made is not only unique, but is built to last and has exceptional finish. Ricky is a longstanding member of FXAA and was keen for the raffle to not only help raise funds for our services, but also to raise awareness of Fragile X. Ricky has 3 older brothers who live with Fragile X syndrome, and the journey for them has not been easy until recently. Thank you to the raffle sponsors! Firstly to NSW-based courier company Yellow Express which has kindly committed to delivery of the bike and seesaw to their new homes. Thank you to CoolKits and Chewy Charms for donating prizes. CoolKits and Chewy Charms are both small businesses founded by members of the FX community. They each design sensory accessories and toys for children and adults to help alleviate the sensory overload and anxiety that go hand in hand with Fragile X syndrome.

CONGRATULATIONS TO THE WINNERS! https://www.fragilex.org.au/fx-raffle-prize-winners-announcement/

Ricky’s shed

Ricky’s brothers

Raffle draw! Raffle sponsors

DISABILITY EXPOS 2024

We’re looking forward to having a strong presence on the Disability Expo circuit in 2024! To meet disability service providers and allied health professionals who are supporting children or adults with Fragile X syndrome, to learn more about the supports and services available in major cities and regional areas—and to catch up with our members. If you’re interested in helping out by spending a couple of hours with Liz at one the Expos we attend , please let us know—it’s great to have company while spreading the word about Fragile X!

We’re kicking off with the Expo in Geelong (Victoria) in February— FXAA President Cynthia Roberts and FXAA member Mary Wilson will run the FX booth. After that Liz Jewell, FXAA’s Family Support Counsellor, will run the FX booths in Adelaide (March 2&3), on the Gold Coast (7&8 June), in Melbourne (5&6 July and again on 22&23 November), Sydney (2&3 August), Canberra (6&7 September), and in Perth (26&27 October.) The FX booth in Cairns (May 14th) will be run by FXAA members Janine and Amanda.

Listed on this page are just some of the (many) large Disability Expos | 14 May 2024 CAIRNS for 2024 in major cities and regional areas. Smaller Regional Disability Expos also take place in Darwin and regional cities such as Rockhampton, Townsville, Cairns, Toowoomba, and Mackay.

INTELLECTUAL DISABILITY HEALTH Intellectual Disability Mental Health Education Modules People with intellectual disability are at increased likelihood of experiencing mental illness but are less likely to receive treatment than people without intellectual disability. The UNSW Sydney Department of Developmental Disability Neuropsychiatry (3DN) has produced a range of information, checklist tools and e-Learning resources on intellectual disability mental health and wellbeing for carers, for individuals with intellectual disability and for disability / health service providers. => https://www.3dn.unsw.edu.au/resources 3DN E-Learning courses on ID Mental Health The evidence‐based courses reflect clinical best practice, were written with advice and input from carers and professionals and are in 3 streams: • • •

Carers and Family Disability Professionals Health and Mental Health Professionals

The Carers / Family courses are free and allow carers and family members to learn about mental health and intellectual disability at their own pace. The courses provide information about what to do if a carer thinks the person they care for needs help, and aim to assist carers to communicate with health professionals. The courses cover: o ID Mental health: • Mental Illness and Intellectual Disability • Detecting Changes in Mental Health and Wellbeing o Specific Mental Illnesses course for Carers. Signs and symptoms of: • Mood and Anxiety Disorders • Schizophrenia and Other Psychotic Disorders • Dementia o Adapting Healthy Lifestyle Interventions for People with Intellectual Disability => https://idhealtheducation.edu.au/

UNSW 3DN RESOURCES - mental health/wellbeing and ID resources ID HEALTH EDUCATION - e-Learning courses on ID mental health

https://www.3dn.unsw.edu.au/resources https://idhealtheducation.edu.au/

My Health Matters Health information record in Easy Read format My Health Matters is an Easy Read folder made to improve communication between people with an intellectual disability, supporters and health workers. This is a folder for someone with intellectual disability or their carer to keep all of their health information. Three sections: • About Me • My medical information • Tools for my appointment Three different formats: • PRINT format in a folder • Downloadable to print yourself • Digital copy

FREE MY HEALTH MATTERS FOLDERS AVAILABLE FROM FXAA — with thanks to CID. Contact wendy@fragilex.org.au

https://cid.org.au/resource/my-health-matters-folder/

The Council for Intellectual Disability website has practical RESOURCES on many aspects of living with an intellectual disability. These are designed by people with lived experience of intellectual disability and are in Easy Read. Such as: Forms to help prepare for a health appointment. Information guides about Wellbeing and Mental Health. My Health Cards to help people have conversations about their health. CID WEBSITE => https://cid.org.au 10

LEARNING MORE ABOUT FRAGILE X Webinars — Catching up

Webinars — Coming up

Catchup with our webinars any time! Podcasts Audio recordings of many of the webinars Videos Webinar presentations

2024 will see some of our regular presenters such as

This year’s webinar recordings online

Webinar series alongside presenters new to the program.

• Toileting Strategies & Supports Across the Lifespan Dr Jennifer Epstein Part 1 Part 2

Webinars planned for 2024

• Understanding Anxiety & Behaviours in Fragile X syndrome Dr Marcia Braden

* Females and Fragile X syndrome

psychologist Dr Marcia Braden, GP Dr Jonathan Cohen and Siblings Australia founder Kate Strohm returning to our

* Fragile X Premutation Associated Conditions * Supporting sibling relationships

• Sensory Processing and Fragile X syndrome Bev Kadish

* Managing FXTAS

• Cannabidiol and Fragile X syndrome Dr Helen (Honey) Heussler

* Medications and Fragile X syndrome

* Health issues & supports for adults with Fragile X syndrome * Research participation opportunities and developments

• FRAXA Research Foundation: snapshot of recent research • Fragile X Care | Adults & Ageing project (FXAA / CDS study)

Many thanks to supporters of the FX Webinar / Q&A series:

• Sleep Disorders and Fragile X syndrome Dr Helen (Honey) Heussler. Recording online soon

* Zynerba Pharmaceuticals for an educational grant to

• Medications and Fragile X syndrome Dr Jonathan Cohen

support webinars with Dr Marcia Braden in 2024.

• Supporting a Lifetime of Learning . Part 1. Part 2 Dr Marcia Braden

support a series of 5 webinars in 2024 - 2025.

* Qantas Foundation Side by Side Grant program for a grant to

The American National Fragile X Foundation website has extensive resources on Fragile X syndrome and Fragile X Premutation Associated Conditions (FXPAC). Resources for families are in various formats: Fact Sheets, Webinar recordings and videos, and Downloadable documents. They include background information, treatment recommendations and support strategies. The resources on Fragile X syndrome are organized by “age” as well as by topic, and so are easy to navigate. Information on FXPAC cover FXTAS, FXPOI and other health concerns for premutation carriers. NATIONAL FRAGILE X FOUNDATION https://fragilex.org/family-resources/

Online Fragile X Education Programme: Understanding Anxiety and Sensory Sensitivities Fragile X New Zealand has developed a free online interactive education programme written by Anita Nicholls and Andrea Lee, who are parents of children with Fragile X syndrome. The programme aims to share information and strategies to support individuals with Fragile X syndrome. It is designed with both parents, support workers and other health professionals in mind. Access via this link: https://fragilex.org.nz/fragile-x-syndrome-anxiety-and-sensory-needs/ 11

Fragile X Association of Australia is delighted to have become a member of Fragile X International (known as FraXI for short). FraXI is a network of Fragile X family support organisations from around the world and it is dedicated to celebrating and supporting those living with Fragile X syndrome and Fragile X Premutation Associated Conditions; striving for social inclusion, equal opportunity and recognition; raising awareness; and encouraging research. MORE ABOUT FRAXI => https://fraxi.org/ Formerly known as European Fragile X Network, the FraXI organisation was founded as an international charity in 2022. This FraXI timeline shows their key work to date:

Fragile X gene name change to eradicate the term “Retardation” Discovered in 1991, the gene responsible for Fragile X was originally named as the Fragile X Mental Retardation-1 (FMR1) gene. In 2022, due to the efforts of FraXI, the international body that sets the standards for gene nomenclature agreed to change the meaning of the acronym FMR in the names of the FMR1 gene and the associated protein FMRP by removing the word ‘retardation. ‘ The FMR1 gene name in full is now “Fragile X Messenger Ribonucleoprotein 1”. The name of the FMRP protein is now “Fragile X Messenger Ribonucleoprotein”. This has been a very important step forward in a move to eliminate stigmatizing language that has been associated with Fragile X. Umbrella term Fragile X Premutation Associated Conditions (FXPAC) accepted internationally FraXI, under its former name European Fragile X Network, was the first organisation to propose that Fragile X Premutation Associated Conditions (FXPAC) be adopted as a universal “umbrella” term covering any condition linked to the Fragile X premutation. While commonly accepted terms were used internationally for two conditions which affect some premutation carriers Fragile X-associated Primary Ovarian Insufficiency (FXPOI) and Fragile X-associated Tremor Ataxia syndrome (FXTAS) – there was no overarching term covering all FX premutation conditions. It was felt that a common and overarching description would be helpful for doctors in determining how the premutation might be affecting their patients; and encourage researchers to continue to explore the various conditions affecting premutation carriers.

FX Australia zooming with FraXI, May

FraXI Annual General Meeting in Belgium, November 12

REPRODUCTIVE GENETIC CARRIER SCREENING Finally, it was the voice of a mother (whose child, Mackenzie Casella, died from Spinal muscular atrophy in 2017), that resonated with the Minister for Health (at the time), Hon Greg Hunt MP. In the 2018 federal budget, a fund of $500 million was announced for the Australian Genomics Health Futures Mission, from the Medical Research Future Fund. Of that, $20 million was set aside for Mackenzie’s Mission, a research study which screened close to 10,000 couples for approximately 750 genetic conditions. Following completion of the study in 2022, a recommendation was made for Medicare funding for a carrier screening test for 3 genetic Many of us who have Fragile X children didn’t have a family conditions: history or know we were carriers. * Spinal muscular atrophy I remember when Daniel was diagnosed how heartbroken I was. * Cystic fibrosis As much as I adore him, I do sometimes find myself * Fragile X syndrome thinking……………..if only I’d known I was a carrier. The Medicare funding came into effect on 1 November 2023 for eligible couples considering pregnancy or in the early stage. Carrier screening is a genetic test that can tell people if they have There are 2 Medicare item numbers - one for the female, and if an increased chance of having children with an inherited genetic she is identified as a carrier for Cystic fibrosis or Spinal condition. 1 in 20 people carry a gene change for muscular atrophy, the male partner is then tested (for which Cystic fibrosis, Fragile X syndrome, or Spinal muscular atrophy, the second item number applies). The sample is taken as a and most are unaware that they are carriers. Being a carrier mouth swab and results are available in about 2 weeks. may not impact that person’s own health, but there is a chance We know from our own experiences that many women do not that their future children may have the condition. know that they are carriers for Fragile X, and the carrier status DNA tests for diagnosis or to identify carriers have developed can remain hidden in families for generations before an as the genes have been identified. For Fragile X syndrome, expansion of the CCG repeat size results in the birth of a child reliable testing for carrier status began shortly after the Fragile later diagnosed with Fragile X syndrome. Some carriers have X (FMR1) gene was identified in 1991. However, obstetricians also been identified due to experiencing premature ovarian and GPs were not obliged to offer carrier screening for insufficiency (FXPOI) and then being tested for Fragile X. pre-pregnancy without a family history. Based on the FX carrier frequency estimated to be 1/250 The Royal Australian and New Zealand College of Obstetricians women and the number of women becoming pregnant in and Gynaecologists (RANZCOG) Best Practice Statement was Australia each year, we expect approximately 90 women per updated in 2017 to change its statement regarding carrier year to be identified as carriers of Fragile X through carrier screening from “may be” offered to “should be offered.” screening, and consequently more calls to FXAA for All women and couples contemplating pregnancy should be information. We are tracking the number of tests conducted offered reproductive carrier screening (RCS) if this has not (via the MBS Online website) and tracking calls to our HelpLine already been undertaken. to monitor uptake and the need for more information. In contrast, when the Royal Australian College of General Practitioners (RACGP) released their first version of the education resource Genomics in General Practice, in 2018, it stated Carrier screening for common recessive genetic conditions (e.g. CF) may be offered to low-risk women or couples. Now in its 2nd Version, released in December 2022, the statement has also been updated to “should”. This represented a worrisome 5-year gap in recommended practices, especially since GPs are responsible for the first clinical treatment of women or couples planning a pregnancy and the referrers to obstetricians, while the first visit to an obstetrician may not occur until the end of the first trimester.

Commercial screening tests have been available in Australia and internationally for some time, but the fee could be cost prohibitive for some, resulting in an inequity of access. For over a decade, many groups including Fragile X Association of Australia have been advocating for reproductive genetic carrier screening tests to be offered as a Medicare rebate item.

FXAA is so pleased that this initiative has commenced. Combined with the Medicare support for preimplantation genetic diagnosis (PGD), this offers real reproductive choice for couples planning pregnancy. We are continuing to advocate for Fragile X to be added to the newborn screening program. More information on genetic carrier testing for Fragile X: * Webinar recording: Genetics of Fragile X and Carrier Testing for Fragile X presented by Dr Alison Archibald, Group Leader – Reproductive Genetic Counselling, Victorian Clinical Genetics Services, August 2022, for Fragile X Association of Australia. https://www.youtube.com/watch?v=Bl96eZnAxpI * RANZCOG and RACGP websites: Resources and information for patients, and resources and online education modules for health professionals. https://ranzcog.edu.au/wp-content/uploads/2022/06/ Reproductive-carrier-screening.pdf https://www.racgp.org.au/ Written by: Cynthia Roberts 13

SUPPORT NEEDS OF FATHERS OF CHILDEN WITH FRAGILE X SYNDROME Journal article review — by Cynthia Roberts Article: “We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia. This article, published in November 2023, is based on a small research study undertaken to evaluate the experiences and needs for support of fathers at least 1 year after their child’s diagnosis of Fragile X syndrome. The fathers were recruited via the Genetics of Learning Disability Service (GOLD Service), part of Hunter Genetics NSW Health, and the Fragile X Association of Australia. The recruitment of fathers was difficult and only 11 fathers were interviewed about their experience via in-depth interview with the researcher. The article is written for a medical journal. I gave this article to some male parents of Fragile X children to read and their feedback was that for those who are not used to medical jargon, some may find the first part describing the background and research methods difficult to get through (especially those with a new diagnosis, who haven’t yet gone down the rabbit hole that is Dr Google...). If so, a reader may find it easier to start at section 3.2, which is a very descriptive section, including direct quotes from the fathers themselves about their experiences. Four main themes were identified by the study.

marital strain but that they had maintained a strong relationship with a united nuclear family (see also note below*)

What men want: Most fathers described that counselling or psychological support had been mentioned around the time of diagnosis but felt that it could have been more strongly encouraged as a preventative measure to help with grief and stress.

*The authors acknowledged that there was potential bias in the group, 10/11 being still married to their partners and 1/11 being remarried. We know that the frequency of divorce of parents of children with special needs is higher than that for the general population. All participants had commenced or completed higher education beyond high school. As such this group of fathers may be skewed towards men with higher intelligences than average, who are also more invested in their family relationship. Nonetheless, the article did provide an insight into the possible reactions of fathers and may be helpful reading for dads of newly diagnosed children. To see if there are different perspectives from other types of families, it would also be interesting to interview stepdads or fathers who are less involved (noting of course that ascertainment of the latter might be nearly impossible). Perhaps that will be another paper.

Making life easier through understanding – yesterday and today: Many voiced the frustration of delayed diagnoses, but when it did come, had an explanation for their child (ren)’s delay and behaviours.

Reference: Luermans J., Fleming J., O’Shea R., Barlow-Stewart K., The path to a new normal – today and tomorrow: Most fathers reported that they had adapted and accepted Palmer E.E. & Leffler M (2023). Am J Med Genet Part A, 1-10 that their family was different but not necessarily better or LINK TO THE ARTICLE https://doi.org/10.1002/ajmg.a.63470 worse (see also note below *).

Seeking information and support: All fathers had received information about Fragile X syndrome at the time of diagnosis and sourced more information themselves on the internet and FXAA support. Many talked about lack of support from family and friends. They also reported some

ACKNOWLEDGEMENTS

DEBRIEFING AND EMOTIONAL SUPPORT FOR FX FAMILY MEMBERS

FXAA acknowledges the research work of Jacintha Leurmans, who was a Master of Genetic Counselling student at the time she was involved in this study. Jacintha undertook voluntary work with FXAA as part of the community placement element of her course at the same time as her research, and her contribution was valued.

COUNSELLING The FXAA Family Support Counsellor, Liz Jewell, is available for family members or parents to speak to about their personal experience. All conversations are confidential. Liz is available Mondays, Tuesdays and Thursdays each week. Contact: liz@fragilex.org.au and 1300 394 636

Genetic Counsellor Mel Leffler from the GOLD Service (NSW Health) was supervisor for the research project.

PEER SUPPORT

FXAA acknowledges the dedication of Mel Leffler to her work in supporting families with a genetic diagnosis, and her support of the Fragile X community in particular.

A longstanding member of FXAA and father of two boys with Fragile X syndrome convenes a monthly peer support group via Zoom for fathers of children with Fragile X syndrome.

Mel passed away in late 2022, and we extend our sincere condolences to Mel’s family, friends and colleagues.

This is run under the auspice of FXAA and supervision of Liz Jewell. For further details contact Liz: liz@fragilex.org.au

FRAGILE X SYNDROME CLINICAL TRIAL ENROLLING IN AUSTRALIA

The Zynerba RECONNECT study is underway in Australia, the US and other sites until the end of March 2024. The study is to evaluate the efficacy of Zygel TM in children and adolescents who have Fragile X syndrome. The trial is currently enrolling at four sites in Australia: clinics in Adelaide, Brisbane, Melbourne, and Sydney.

Zygel is a unique permeation-enhanced cannabidiol transdermal gel. Transdermal therapeutics are applied locally and absorbed through the skin directly into the systemic circulation, resulting in a lower incidence of gastrointestinal side effects, and avoidance of first-pass liver metabolism, which potentially enables lower dosage levels of active pharmaceutical ingredients and rapid, reliable absorption with increased bioavailability. Other potential benefits of transdermal delivery compared with oral administration may include fewer drug-drug interactions. Participation in the study: After an initial screening visit to confirm eligibility, participation involves 4 virtual visits and 3 in-person appointments over 18 weeks.

SITES: Eligible participants are people who are: aged 3 to 22 with a genetic diagnosis of Fragile X syndrome; experiencing behavioural Flinders University, Health Data and Clinical Trials Flinders Medical Centre symptoms; and are in generally good health. Bedford Park SA 5042 | Phone 0468 566 663 TM Zygel is a transdermal gel. It is a pharmaceutically produced Queensland Children’s Hospital cannabidiol, a non-euphoric cannabinoid, which is a major 62 Graham St component of marijuana. This is a follow-up study to Zynerba’s South Brisbane QLD 4101 | Phone 07 3069 7457 previously completed CONNECT-FX study, a randomized, doubleGenetic Clinics Australia blind, placebo-controlled Phase 3 trial. That trial demonstrated significant improvements in both Social Avoidance and Irritability 263 Glen Eira Rd Caulfield North VIC 3161 | Phone 03 9528 1910 tests in subjects with complete methylation of their FMR1 gene. The Children’s Hospital at Westmead Because the observed areas of improvement found only in fully Cnr Hawkesbury Rd & Hainsworth St methylated subjects were not the primary outcome of that trial, Westmead NSW 2145 | Phone 02 9845 0336 the US Federal Drug Administration (FDA) requested this follow-up trial before granting approval for marketing. MORE INFORMATION => https://fragilexhelp.com.au/

BUILDING KNOWLEDGE ABOUT THE FRAGILE X PREMUTATION The data is stored in a secure online database.

The International Fragile X Premutation Registry is a secure database created to encourage research on the Fragile X premutation and ultimately lead to better care, and possible treatments, for females and males whose health is impacted by the premutation. The goal is to build knowledge about the Fragile X premutation. The Registry team is led by Dr David Hessl of the UC Davis MIND Institute (US), with representatives from the National Fragile X Foundation, Fragile X Association of Australia (Karen Lipworth), Fragile X Alliance (Dr Jonathan Cohen), and other groups.

As a participant, you’ll receive annual updates about research developments in this field, and you may also be contacted by the IFXPM Registry team about research studies you may be eligible to participate in, including future treatment studies. Researchers from all around the world, including Australia, will have the opportunity to submit details of their Fragile X premutation study to the IFXPR Advisory Committee for review. Where a study is approved for distribution, the IFXPR team will email a recruitment flyer to eligible participants. How will the Registry help the Fragile X community? A registry that includes a large and diverse group of individuals with the Fragile X premutation, as well as family members without the premutation, will greatly facilitate research, including future treatment and intervention studies.

Invitation to join the Registry People who are female or male Fragile X premutation carriers, and who are 18 years or over, are invited to join the Registry by enrolling online.

LEARN MORE ABOUT THE REGISTRY https://fragilex.org/our-research/premutation-registry/ JOIN THE REGISTRY https://redcap.ucdmc.ucdavis.edu/redcap/surveys/?

What’s involved? People who join the Registry complete a survey to provide their contact, demographic, and basic medical details related to the Fragile X premutation. 15

FRAGILE X PREMUTATION CONFERENCE 2023 Shining a Light on the FMR1 Premutation: What We Know, What We Think We Know, and What We Need to Know

What’s in a name – discussion of terminology A presentation and discussion focussed on the challenges posed by the language and terminology associated with the Fragile X The 5th International Conference on FMR1 Premutation took place premutation. For example – carrier, mutation, disorders, FXAND... Surveys conducted amongst the Fragile X community in the US, Feb 27 - Mar 02, 2023 in New Zealand, attended by clinicians, Australia and New Zealand prior to the conference highlighted the researchers and individuals with lived experience of the concerns of the FX community, and the desire for neutral, premutation (PM) from the US, Australia, NZ and elsewhere. non-stigmatizing language. One of the conclusions of the conference, articulated by Prof Randi Hagerman, was the wide acceptance of “Fragile X Premutation Associated Themes emerging from the conference discussions Conditions” (FXPAC) as an umbrella term to encompass the range The Lived Experience Perspective Summary Paper 1, published of involvement from the premutation, that is FXTAS, FXPOI and after the conference, noted these themes: FXAND. • “the importance of population screening and the information From the Summary Paper: shared with individuals newly identified with the PM; “We know more than we ever have about the FMR1 PM. • development and use of terminology in this emerging field of However, there remains more to learn and understand. study and the need for agreed, consistent use of terminology This is particularly important as screening becomes increasingly for both individuals with the PM, clinicians, and researchers; available and those diagnosed with the PM seek to understand • the concept of ‘at increased risk of’ when considering how to what this means, and the implications. Research suggests that some people with the PM may experience health impacts outside talk about the range of issues associated with the PM; the currently defined FXPOI and FXTAS. Using appropriate, • recognizing the PM population currently studied is skewed consistent, and non-stigmatizing terminology was recognized as towards families impacted by FXS; having important implications for the planned knowledge translation of these new findings. This includes the potential • the importance of the lived-experience voice: success of developed guidelines for testing for both adults and in  Fertility-related issues—the need for increased childhood that aims to provide early detection to inform optimal knowledge and better pathways for fertility-related management and outcomes. Emerging from the International issues associated with the PM gene, particularly for Premutation Conference, where many experts in the field met […] younger women; and discussed the related issues, was an overall agreement  The CGG repeat number is recognized as only part of the around the value of the concept of ‘at increased risk’ compared to the general population when referring to the range of conditions evolving picture—research indicating AR, FMR1 mRNA, FMRP levels, AGG interruptions, and allelic instability as currently associated with the PM.” also important factors to consider;

 Lifestyle measures—multiple presenters mentioned the importance of healthy lifestyle as a protective measure against risk factors associated with the PM, including an emphasis on limiting alcohol, not smoking, the importance of exercise and a good diet, and avoiding excess environmental toxins and high stress;

FX News | December 2023

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ACHIEVEMENT AWARDS 2023