Last year, FraXI was lucky enough to cross paths with Bríd Quinn (being lucky to cross paths is an understatement- she is quite speedy!). Bríd is the proud mum of Alannah and Saorla, who live with Fragile X Syndrome. We covered her story here. We strongly encourage you to read it, but if you want…
Last year, Michal and Eva Bednarik started Slovakia’s first ever Fragile X family organisation. Back then, the Bednariks knew no other families raising children with an FX diagnosis.Today, they have helped multiple families across Slovakia with their FXS journey and found their own purpose along the way. FraXI is grateful to Michal and Eva for…
Table of Contents: Diagnostic Process Fragile X Syndrome (FXS) is diagnosed through genetic testing. Testing of an individual with suspected FXS is usually done through taking a sample of blood which is sent to a laboratory to test which form of the FMR1 gene is present. It is also possible to diagnose using saliva or…
Helping a person with Fragile X Syndrome (FXS) is about recognising and promoting their strengths as well as putting support in place for areas of difficulties. There will be a range of inter-linked aspects which cross categories. Socio-educational interventions, for example, may teach skills for daily living, give tools for independence and promote inclusion in…
Behaviour can cover many aspects of Fragile X Syndrome (FXS). Some behaviours are charming and idiosyncratic, others can disrupt daily life. Some behaviours may be linked to co-occurring conditions such as autism, ADHD, anxiety and depression. Often there is a combination of the above, unique to the individual and with changes in behaviour over the…
Table of Contents: Case study: Sensory diet for a child with Fragile X Syndrome who is hyposensitive to sensory input Information on the child: Age: 7Diagnoses: Fragile X Syndrome (FXS), Attention Deficit Hyperactivity Disorder (ADHD)Sensory profile: Hyposensitive to stimuli across multiple sensory systems Identified behaviour: Suggested Sensory Diet Plan Morning Routine (aims to get the…
People with Fragile X Syndrome (FXS) may have difficulties with speech and language. This can present as delayed development. Each person will have their own strengths and struggles, but those with FXS are commonly better at understanding language than using language themselves. Speech and language therapists can carry out an assessment to understand the areas…
실제 경험을 통해 희귀 질환에 대한 데이터를 수집하기 위한 정기 설문조사의 일환으로 유로디스에서 실시한 최근 희귀질환 바로미터 음성 설문조사 결과에는 FXS를 앓고 있는 가족들의 중요한 정보가 포함되어 있습니다. 다음은 설문조사에서 수집된 데이터를 기반으로 한 FraXI의 보고서입니다. 희귀질환을 앓고 있는 인구통계학적 9591명...
1백 5킬로미터. 다섯 개의 도시. 하나의 시력. 브리드 퀸은 취약성 X 증후군을 앓고 있는 두 딸의 엄마입니다. 그녀는 두 딸을 위해 유럽 5개 도시에서 다섯 번의 하프 마라톤을 완주하며 취약성 X 증후군에 대한 인식을 높이기 위해 도전하고 있습니다. 저희는 브리드와 이야기를 나눌 기회를 가졌습니다...
아이디어가 있고 기금 모금을 원하시면 이메일(info@fraxi.org)로 알려주시거나 문의 양식을 작성해 주세요. 챌린지 이벤트나 마라톤, 지역 대회, 베이크 세일 등 프랙시를 위해 하고 싶은 아이디어가 있다면 어떤 것이든 환영합니다! 취약 계층을 위한 프랙시 실행하기...
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전 세계 취약성 X 증후군 및 취약성 X 돌연변이 관련 질환을 앓고 있는 사람들을 축하하고 지원합니다.
