Fragile X Association of Australia Inc

Fragile X Care | Adults & Ageing - the first Australian study on the support needs, health & wellbeing of adults with Fragile X syndrome as they age. This work will be a 3-year collaboration with Centre for Disability Studies, a not-for-profit research affiliate of the University of Sydney. Our shared goal is ambitious - to enhance quality of life for adults with Fragile X syndrome as they age. First up we need to understand the current lay of the land. In May we'll launch two surveys: * one for Family Members/Carers * one for Disability, Aged care and Health professionals This baseline research will help us: * build a picture of the current and future needs of adults with Fragile X syndrome in Australia * better understand and support workforce capability * advocate for policy and practice developments across relevant support and care settings. We're thrilled to be undertaking this study with CDS, a team with tremendous experience in the area of intellectual disability and ageing. The work has been made possible by a philanthropic grant, for which we are deeply thankful. #fragilexcare

The 19th World Menopause Congress in Melbourne has been an important opportunity to shine a light on the link between Fragile X and early menopause. As many as 25% of women who are premutation carriers for Fragile X will experience Primary Ovarian Insufficiency (FXPOI) or early menopause. The importance of appropriate health monitoring and treatments for muscular-skeletal, cardiovascular and other health aspects can't be overstated. Many thanks to the International Menopause Society and the Congress local organising committee for inviting us to be part of the exhibition space over 3 days. With well over 2,000 delegates here, it's been a super busy and productive time for our President Cynthia Roberts and Executive Director Wendy Bruce They've spent a terrific 3 days talking about Fragile X premutation health aspects, as well as reproductive genetic carrier screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X. Our key takeaways? * Healthcare professionals need more education and information resources about 3-gene carrier screening - the discussions to have with patients, and best practice next steps where a patient has a positive result to the carrier screening. * Most health professionals have limited knowlege of the Fragile X premutation, and are keen to know more about the associated health impacts, and how best to support their patients. #fragilexawareness #fxpoi

Our first time at the Regional Disability Expo on the Sunshine Coast today - making connections with local FX families and service providers who are supporting children or adults living with Fragile X syndrome. Fantastic to have the chance to make connections in this way outside the big cities! Shoutout to Sharon Fulwood Kara de Schot and the RDE team for helping make our booth look great :-) This time next year we'd love to be back in Caloundra showcasing our online learning modules for disability and aged care teams on supporting adults with Fragile X - these will be the next phase of our Fragile X Care | Adults & Ageing collaboration with Mary- Ann O'Donovan and team at Centre for Disability Studies

Innovating for Equity | Advancing Care through Collaboration - an inspiring theme for the Genetic Alliance Australia Forum at NSW Parliament House this week. The Forum's Advocacy and Research Showcase was a wonderful opportunity to profile our collaborative research study "Fragile X Care | Adults & Ageing". We're working with the Centre for Disability Studies team to explore the support needs of adults with Fragile X syndrome as they age, gaps which exist in care or support, and the challenges families face in planning for the future for their person with Fragile X. The Forum was another remarkable GAA event, featuring incredible and passionate speakers, all making a difference in the rare space through innovation and collaboration.

Wonderful to have been invited to present at the West Australian Association of Teacher Assistants conference last weekend! In a stream focussing on Classroom Supports for Students with X&Y Variations - Turner syndrome, XYY and Fragile X syndrome - our Family Support Counsellor Liz Jewell outlined the learning strengths and challenges associated with Fragile X syndrome and classroom accommodations which will support students with Fragile X. We also took part in the live Q&A and provided a useful list of recommended resources for educators - including our own videos & podcasts featuring psychologist/educator Dr Marcia Braden PhD. Congratulations to the #WAATA team on a very successful conference.

On the ground in Canberra today - catching up with our ACT-based members, and talking to service providers and therapists about supports for children and adults living with Fragile X syndrome. Disability Expos provide a great opportunity to extend the outreach of our FX Family Support Counsellor, Liz. Shoutout to our friends at ImpactInstitute for another well-organised event!

Have a question about Fragile X syndrome? Psychologist/educator Marcia Braden PhD is teaming up with Dr Jonathan Cohen MD for an open mic session. Great to be co-hosting this event with our friends from FX New Zealand! Register now to join us live on Sunday morning => https://lnkd.in/gswxYug8 #fxwebinarseries

Last Saturday - another opportunity to hear from GPs about their experience of the 3-gene reproductive carrier screening test. It's clear that more information is needed to support GPs in having conversations with their patients about the test and, in particular, understanding next steps where test results indicate an increased chance of a couple having a child with one of these 3 conditions. Where a female patient is a carrier for Fragile X, genetic counselling is essential to provide an understanding of the potential for other family members to be carriers for the FMR1 premutation. And in certain circumstances, consideration could be given to an additional genetic test for AGG interruptions which can provide further clarity on a patient's chance of having a child with Fragile X syndrome. Many thanks to our member Mary Wilson and to genetic counsellor Lana from Victorian Clinical Genetics Services (VCGS) for supporting us at this Healthed Australia event last Saturday!

Excited about our first "open mic" event! "Ask me Anything... About Fragile X syndrome" with Dr Marcia Braden PhD and Dr Jonathan Cohen, two clinicians who have tremendous understanding of Fragile X syndrome. A fantastic opportunity to ask any questions you may have about Fragile X syndrome – whether that be about behaviours, anxiety, learning challenges, making adjustments for daily living, health issues associated with Fragile X syndrome, or treatments. A live only event, with Dr Braden joining us from Colorado, Dr Cohen joining from Melbourne and Andrea Lee, Executive Director of Fragile X Society of New Zealand in the hosting chair. Join us - Sunday 8 September! Register here => https://lnkd.in/gswxYug8

A great addition to our Future Planning webinar series - this discussion led by Jaquie Mills from Microboards will cover: * the history of Microboards * the benefits of incorporation * Microboard principles and values * how people usually attract other people to become members of a Microboard * the benefits to the focus person’s quality of life. Live only - so if you're keen to know more about the role of Microboards in the life of a person with disability, join us on Zoom next Tuesday. ✴ https://lnkd.in/g2sArWGY