Fragile X International

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Fragile X International

Fragile X International is a network of Fragile X family organizations from around the world. See our website for our Vision and Mission, and more information!

Fragile X International (FraXI) was founded in 2022 by a network of 17 country family organisations from the European Fragile X Network. We very much welcome new members to join as either full or associate members. Full membership is open to all fragile x family organisations around the world. Associate membership is available to corporations, non-family organisations and other charities. Here's o

ur press release on the founding of FraXI:https://www.fraxi.org/pressrelease2.pdf

History:

In May 2011, representatives from eight European Fragile X family associations plus one from Israel came together to meet in Amsterdam. It was a fantastic feeling to be together and discuss the many common issues related to Fragile X, our families and associations. We decided to stay together, start to work together on projects and bring the European idea to life. We now have a common Fragile X awareness day, it's the 10th of October, or in roman letters: X.X.! Our independent network of Fragile X associations will see first larger common projects and some other, smaller cooperations. We will work together, combining our strengths and powers in order to improve the lives of families affected by Fragile X all over Europe. We are thankful to EURORDIS, the European organisation for rare diseases, for their support, that enabled us to come together in Amsterdam, Brussels, Paris and London! Our fifth meeting took place in Rome in November 2014. Never have there been more European family associations coming together! Scroll through our feed to see our activities over the years....

08/06/2026

“Listening to my patients”: Interview with Dr Alice Montanaro on her PhD research

Dr Alice Montanaro works as a cognitive behavioural therapist at the University of Bari Aldo Moro, where her research is based. Alice first stumbled across the term “Fragile X” when she met Lucrezia, a young woman living with Fragile X Syndrome, who made Alice smile and laugh with her unique sense of humour. After that meeting, thanks to the Italian Fragile X Syndrome Association Associazione Italiana Sindrome X Fragile and its local section in Puglia, she was able to pursue several projects and research activities. One of these explored how cognitive behavioral therapy can be adapted into a multifaceted approach for young adults living with FXS. Read more about that at
https://fraxi.org/when-life-becomes-more-demanding-a-lifelong-multi-integrated-approach-in-delivering-neuropsychological-cognitive-behavioural-therapy-to-young-adults-living-with-fxs/

In our latest interview with her, she talked about her doctoral thesis titled “From the assessment of atypical development to cognitive-behavioral intervention in individuals with Fragile X Syndrome and the FMR1 premutation: A translational psychological approach” at the University of Bari Aldo Moro.
She investigated the lived experiences of women living with the FMR1 Premutation gene.
Find out more about her journey, lessons learned, and what her future has in store here: https://fraxi.org/listening-to-my-patients-interview-with-dr-alice-montanaro-on-her-phd-research/

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

01/06/2026

Fragile X-associated tremor/ataxia syndrome (FXTAS)

Previous research into Fragile X-associated tremor/ataxia syndrome (FXTAS) has found that there are sex-based differences in how it affects fragile X gene premutation carriers. Recognised symptoms in both males and females generally include tremors, balance issues and dementia. The condition is onset disorder, typically occurring in premutation carriers over the age of 60, with symptoms usually being noticeable in their fifties.

But the type and severity of FXTAS symptoms take different forms depending on the patient. Some have shown multiple symptoms which become severe as they advance in age, while others have fewer and milder symptoms. There are very few studies which analyse the sequence in which these symptoms appear. The authors of this study argue that it is important to focus future studies on how these sequences differ from patient to patient in order to understand how to better address three key questions:
1. In what sequential order do FXTAS symptoms and brain changes typically appear?
2. How does that sequence vary between males and females?
3. Do specific baseline characteristics predict the order of presentation?

Read the full article at https://pmc.ncbi.nlm.nih.gov/articles/PMC12776014/
More information at https://fraxi.org/sequence-of-neuropsychiatric-symptoms-for-fragile-x-associated-tremor-ataxia-syndrome-fxtas-is-different-in-females-compared-to-males-new-study-finds/

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

28/05/2026

Bríd Quinn and a rare invisible string!

By now you all know our Bríd. She is running 5 half-marathons in the shape of an X across Europe to raise awareness about FXS. Bríd completed her penultimate half marathon in San Sebastian, Spain, on the 12th of April. The day was already a special one – her daughter Alannah turned 13 the day before, and suddenly Bríd became the mum of a teenage girl!

But a few minutes before the race started, something even more special happened.
A special encounter with Phoebe, a smiling, joyful woman with Fragile X.

"A 1 in 7,300 chance… and yet I met an extraordinary young woman like Phoebe at the start line of the San Sebastián Half Marathon last Sunday.
Our stars aligned. The universe smiled on us.
In a sea of runners, I found someone who truly understands, someone living with Fragile X Syndrome. And in that moment, nothing else mattered. It was a connection, pure and powerful."

Read more about this special encounter at https://fraxi.org/a-rare-invisible-string/
Thank you Bríd Quinn and thank you Phoebe for being together, rare but never alone!

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

25/05/2026

Middle-eastern mums of children living with FXS: Study reveals daily struggles and harsh truths.

A recent study set in Egypt interviewed 40 mothers of children living with Fragile X Syndrome, focusing on challenges faced by discrimination and neuropsychiatric conditions. 47.5% of the mothers were found to be dealing with a neuropsychiatric issue, 5% with anxiety, 2.5% with comorbid depression and 40% with major depression. They also reported facing high levels of discrimination throughout their motherhood.

There are very few studies that discuss struggles faced by mothers of children living with FXS. In fact, investigations into how the toll of primary caregiving, discrimination, loneliness and depression affects such mothers with a focus on geographic and socio-cultural differences are rare. This is one of the first studies to take a deep dive into the reality of middle-eastern mothers of children living with FXS.
More information at https://fraxi.org/middle-eastern-mums-of-children-living-with-fxs-study-reveals-daily-struggles-and-harsh-truths/
Read the full article at https://www.tandfonline.com/doi/pdf/10.1080/20473869.2025.2546631?casa_token=JUYx-SKwlVUAAAAA%3AGcLE-0HiRuSjdKnG_CW41fwkf3M86omysT3i2eb6UMCJdHAhbPxGLGKsHkVzoVVYnkA1hzDpK5Hw&

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

21/05/2026

Very often, FraXI comes across many driven researchers who have dedicated their lives to understanding Fragile X Syndrome. We want people living with FXS to know that among these researchers, there is a growing cohort of individuals who are putting the FXS community and their families at the heart of their work. We spoke with Dr Kayla Smith, a postdoctoral researcher at the University of Birmingham on her PhD journey and involvement in FXS research.

Read the full interview at https://fraxi.org/transparent-collaborative-and-hopeful-postdoctoral-researcher-kayla-smith-on-the-world-of-fxs-research/

Heartfelt thanks from our entire community to the many researchers and professionals who work passionately and dedicatedly to improve our lives.

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

19/05/2026

Our President Kirsten Johnson, as Chair of the Council of Directors of RDI, invites you all to the RARE DISEASES INTERNATIONAL Side Event during the 79th World Health Assembly.
"I am really honoured to be speaking at this event.
Rare conditions expose the stress points of our health systems, highlighting gaps in diagnosis, care coordination, innovation, data, financing, and access. But they also offer a powerful opportunity: if health systems work for rare, they can work for everyone. "

Join us for speakers and panel discussion on how rare diseases can act as a catalyst for more inclusive, person-centred, and resilient health systems.

📍 Geneva Graduate Institute
🗓️ 20 May 2026 | 18:00–21:00 CEST

For more information, visit https://www.rarediseasesinternational.org/event/wha-79-side-event-rare-diseases-a-catalyst-for-global-health-transformation/

Rare Diseases International

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

18/05/2026

FraXI Board of Advisors member Prof Claudia Bagni leads new study on FXS and smell!

In the beautiful region of Lazio, Italy, a team of dedicated researchers is exploring a largely understudied side of Fragile X Syndrome – the sense of smell. The work is led by Prof. Claudia Bagni, who conducts her research between the University of Rome Tor Vergata and the University of Lausanne, and who also serves on FraXI’s Board of Advisors.

The study is supported by the Telethon Foundation FONDAZIONE TELETHON.
Prof. Bagni’s team is studying so-called “dark genes”, genes that remain poorly understood, some of which are linked to olfactory receptors. Their goal is to better understand why individuals with Fragile X Syndrome (FXS) often experience smells differently, including how pleasant or unpleasant odours feel to them, the so-called hedonic value.

The study reports:
“Among the various forms of sensory atypia, olfactory atypia is the least characterized in neurodevelopmental disorders. Even less explored is the hedonic component of the olfactory experience that makes the perception of a smell pleasant or unpleasant, which profoundly influences the way in which individuals interact with their environment and modulate their behavior.”

Read more about the study at https://fraxi.org/fraxi-board-of-advisors-member/

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

14/05/2026

Do you need specific information about the genetic aspects of Fragile X Syndrome? On our website, in the "About Fragile X" section, you'll find:
-Genetics Overview
-The Fragile X Gene, FMR1
-Fragile X Syndrome and the FMR1 Full Mutation
-The FMR1 Premutation
-The FMR1 Intermediate (Grey Zone) Result
-Mosaicism
-Resources
Content is available in over 35 languages!
Visit https://fraxi.org/information/fragile-x-genetics/ for more information.

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

11/05/2026

Rare but Real: A family’s story of myths, stigma, and Fragile X Syndrome

For doctors Paulin Madia and Ruth Kabengele, diagnosing patients is part of their job. But when the time came for them to go on their own diagnostic journey with their sons, who both live with Fragile X Syndrome, it was not the diagnosis that was their biggest challenge, but what came afterwards. We are grateful to Paulin and Ruth (and FraXI’s Vice President, Kristin Mulcock, for supporting them with sharing their story and translating) for taking the time to chat with us.

Paulin and Ruth light up whenever they get to talk about their sons. “If there is anything contagious about them, it’s their joy and enthusiasm for life.” Navigating FXS involved a lot of independent research into rare conditions for Ruth and Paulin. They now understand that families like theirs are connected by love, endurance and perseverance. While caring for their sons, Paulin and Ruth also volunteer to help families like theirs who are less able to help themselves. Educating themselves about FXS has prompted them to search for more families that share the gene and pass on their knowledge.

Read their inspiring and touching story here: https://fraxi.org/rare-but-real-a-familys-story-of-myths-stigma-and-fragile-x-syndrome/

If you are experiencing isolation because there is no FXS organisation in your country, please reach out to FraXI ([email protected]) and we will help you start one. We are here for you!

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

09/05/2026

Want to stay updated on our initiatives and the latest scientific research? Don't miss our newsletters. You can explore all FraXI newsletters here: https://fraxi.org/it/newsletter-fraxi/

If you love it, sign up to our mailing list to receive future newsletters directly in your inbox: https://fraxi.org/contact/
Don’t miss out on what’s coming next – join the FraXI community today!

To help FraXI achieve its vision, please donate here https://fraxi.org/donate/. Your support really matters to us.
You can learn more about our work at www.fraxi.org.

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