Uznáváme, že všichni lidé s křehkou vadou X mají stejnou hodnotu a nárok na stejné příležitosti jako ostatní. Naší vizí je pomáhat lidem žijícím se syndromem křehkého X (FXS), s premutací křehkého X (FXPAC) a jejich rodinám kdekoli na světě žít šťastný život.
Fragile X International je síť, v níž je moc jednat v rukou lidí s křehkým syndromem FX. FX není nemoc, ale stav: budeme podporovat sociální začlenění FX na všech úrovních společnosti. Budeme prosazovat, aby se lidé žijící s FXS a FXPAC nemuseli přizpůsobovat společnosti, ale aby je společnost přijala takové, jací jsou. Abychom tento cíl podpořili, vyzýváme všechny naše rodinné organizace, aby v jejich představenstvu byla alespoň jedna osoba s FXS.
Mise
Fragile X International je síť rodinných organizací v jednotlivých zemích, které budou spolupracovat na propagaci, podpoře a posilování identity FX jako přidané hodnoty pro společnost. Naším cílem je rozšiřovat znalosti o silných stránkách lidí s FXS; upozorňovat na oblasti, kde mohou potřebovat podporu; zvyšovat povědomí a podporovat výzkum kolem FXPAC; a sdílet znalosti v naději, že jednoho dne bude FX uznána za přínos, který společnosti přináší.
Nezávislost
Fragile X International has a policy not to join consortium or co-sponsor clinical drug trials. This is in order to maintain the independence of the patient voice. FraXI represents family organisations and those living with FXS. Our vision and mission is to create a world where all those living with FXS are recognised for the value they bring to society. We support research and work with clinicians, but need to stay appropriately distanced from being directly linked to particular drug trials.
Milestones – A timeline of FraXI
2012
INTERNATIONAL FRAGILE X DAY
The European Fragile X Network initiated International Fragile X Awareness Day on the 10th day of the 10th month: X.X.
2018
NON-MEDICAL INTERVENTIONS
The European Fragile X Network helped modify how the treatment of Fragile X Syndrome is described in Orphanet to emphasise non-medical interventions “Speech, physical and sensory integration therapy as well as individualized educational plans and behavioral interventions”. (https://orpha.net/consor/cgi-bin/OC_Exp.php? Ing=EN&Expert=908)
2020
FXPAC
The country associations worked together to introduce the term Fragile X Premutation Associated Conditions (FXPAC). published zde.
2022
GENE NAME CHANGE
FraXI representatives led in changing the name of the FMR1 gene and of the FMRP protein.
2022
FRAXI IS LAUNCHED
FraXI formed the first ever internationally-registered Fragile X charity open to all FX organizations (either as full or associate members). We have a Vision! We are sharing our Vision, Mission and Values on our Website: www.fraxi.org. FraXI is working with partners across Europe to develop European guidelines for Fragile X Syndrome.
FraXI led in the renaming of the FMR1 gene – see our article zde and further info on our website zde.
2023
NEW FRAXI MEMBERS
Fragile X Association Australia and Fragile X New Zealand are new FraXI Full Members. The National Fragile X Foundation (U.S.) is a new FraXI Associate Member.
2024
ADVOCACY AND AWARENESS
- FraXI Congress 2024 in Barcelona, Spain, 7-10 November
- Growing our membership
- Raising awareness on International bodies and leading up to X.X. 2024
- Providing resources and webinars on best practices for our members
2025
We continue to build capacity and welcome new members.
In May 2025 our President spoke at the World Health Assembly side event on the WHA Resolution for Rare Diseases, which was adopted and will lead to a Global Action Plan for rare conditions.
FraXI took part in the International Fragile X Workshop held in Padova, Italy; in the International Fragile X Premutation Conference, Bari, Italy; and in the Neurodevelopmental Disorders Conference, Noordvijk, The Netherlands. At these conferences, we represent the voice of those living with FXS and FXPAC to professionals.
In 2025, our Abstracts of our first FraXI International Congress were published; and we embarked on writing clinical practice FX Guidelines with an international group of clinicians and scientists, to be adopted by ERN ITHACA upon completion.
We continue work on developing a Fragile X Federated Data Platform, to link data sets from around the world in order to further research.
We also have worked with the University of Surrey in launching a survey to hear the research priorities of those living with Fragile X Syndrome and their families.
