Facebook은 모든 취약성 X 증후군 환자들이 다른 모든 사람들과 동등한 가치를 지니고 있으며 동일한 기회를 누릴 자격이 있음을 인정합니다. 우리의 비전은 전 세계 어디에서나 취약성 X 증후군(FXS), 취약성 X 돌연변이 관련 질환(FXPAC)을 앓고 있는 사람들과 그 가족들이 행복한 삶을 누릴 수 있도록 돕는 것입니다.
프래자일 엑스 인터내셔널은 행동할 수 있는 힘을 가진 사람들이 모인 네트워크입니다. 우리는 모든 사회 계층에서 외상후 스트레스 장애를 질병이 아닌 질환으로 인식하고 사회 통합을 촉진할 것입니다. 우리는 FXS 및 FXPAC를 앓고 있는 사람들이 사회에 순응할 필요 없이 사회가 그들을 있는 그대로 포용해야 한다는 것을 옹호할 것입니다. 이러한 목표를 달성하기 위해 모든 가족 조직이 이사회에 최소한 한 명 이상의 자폐성 장애인을 포함하도록 권장합니다.
미션
프래자일 엑스 인터내셔널은 사회에 부가가치가 되는 FX 정체성을 홍보하고, 지원하고, 강화하기 위해 함께 노력하는 국가 가족 단체들의 네트워크입니다. 우리는 FXS를 가진 사람들의 강점에 대한 지식을 높이고, 지원이 필요할 수 있는 분야를 강조하며, FXPAC에 대한 인식을 높이고 연구를 장려하며, 언젠가 FX가 사회에 가져다주는 혜택을 인정받기를 바라며 지식을 공유하는 것을 목표로 합니다.
독립성
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 여기.
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 여기 and further info on our website 여기.
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.
