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Fragile X Society, UK
เข้าร่วมเมื่อ 6 ส.ค. 2014
Fragile X Syndrome with Animation Explainers
We're delighted to launch this short animated video, produced for the Fragile X Society by Animation Explainers, to mark Rare Disease Day (28 February 2023), to help raise awareness of Fragile X Syndrome and associated conditions.
Effective coordination of care is essential to help people living with Fragile X Syndrome and their families to minimise the impact of multiple healthcare appointments on their busy lives and help healthcare professionals to work together effectively to provide high-quality and joined-up care. For Rare Disease Day 2023 we are working with Rare Disease UK and a wide range of organisations that support people living with rare conditions to raise awareness of how well-coordinated care can make a real difference to people’s quality of life. You can find out more at Rare Disease UK's Rare Disease Day website.
Effective coordination of care is essential to help people living with Fragile X Syndrome and their families to minimise the impact of multiple healthcare appointments on their busy lives and help healthcare professionals to work together effectively to provide high-quality and joined-up care. For Rare Disease Day 2023 we are working with Rare Disease UK and a wide range of organisations that support people living with rare conditions to raise awareness of how well-coordinated care can make a real difference to people’s quality of life. You can find out more at Rare Disease UK's Rare Disease Day website.
มุมมอง: 5 421
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Fragile X Society Conference: Developing a Fragile X Hub Network in the UK
มุมมอง 118ปีที่แล้ว
Join Dr Gaia Scerif, presenting a talk on the development of a Fragile X Hub Network in the UK
Fragile X Society Conference 2022: Introduction; and Fragile X Premutation Associated Conditions
มุมมอง 824ปีที่แล้ว
Dr Kirsten Johnson and Dr Joanna Moss (University of Surrey) give a joint presentation on Fragile X Premutation Associated Conditions (FXPAC). This video also includes a welcome and introduction to the conference from Pete Richardson, Managing Director of the Fragile X Society.
Fragile X Society Conference 2022: 35 years of research on attention deficit hyperactivity disorder
มุมมอง 178ปีที่แล้ว
Dr Natali Bozhilova introduces 35 years of research on ADHD and what it means for people with Fragile X Syndrome and their families.
Fragile X Society Conference 2022: Autism and sensory differences in Fragile X Syndrome
มุมมอง 709ปีที่แล้ว
Dr Joanna Moss and Dr Katherine Ellis (University of Surrey) discuss autism and sensory differences in Fragile X Syndrome.
Fragile X Society Conference 2022: Development and compensation of brain activity in rodent models
มุมมอง 86ปีที่แล้ว
Dr Sam A Booker from The Patrick Wild Centre's presentation on the development and compensation of brain activity in rodent models of Fragile X
Fragile X Society Conference 2022: Sleep matters in Fragile X Syndrome
มุมมอง 127ปีที่แล้ว
Dr Georgie Agar (Aston University) discusses sleep matters in Fragile X Syndrome, and shares some strategies for managing sleep difficulties.
International Fragile X Awareness Day 2022: Amanda's Story
มุมมอง 615ปีที่แล้ว
10 October (XX) is International Fragile X Awareness Day. Fragile X Syndrome is the most common inherited cause of learning disability. But what is life really like with Fragile X? Here, people with Fragile X Syndrome and their families share their experiences. This is Amanda's story.
International Fragile X Awareness Day 2022: Linda and Zackary's story
มุมมอง 669ปีที่แล้ว
10 October (XX) is International Fragile X Awareness Day. Fragile X Syndrome is the most common inherited cause of learning disability. But what is life really like with Fragile X? Here, people with Fragile X Syndrome and their families share their experiences. This is Linda and Zackary's story.
My Brother My Sister: Fragile X Awareness Day 2019
มุมมอง 5K4 ปีที่แล้ว
Fragile X Syndrome is the most common inherited cause of learning disability. But what is life really like with Fragile X? Here, people with Fragile X Syndrome and their siblings share their experiences.
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Features, Diagnosis and Treatment
มุมมอง 2.9K4 ปีที่แล้ว
Dr Sundus Alusi is a consultant neurologist with a special interest in movement disorders at the Walton Centre Foundation Trust, Liverpool. Her MD thesis was dedicated to the study of Tremor in Multiple Sclerosis and ended in a MD degree at Imperial College, London in 2001. She obtained the certificate of specialist training (CCST) in neurology in 2004. As a consultant, Dr Alusi’s work involves...
Understanding Pathways to Negative Emotional Outbursts and Finding Ways to Reduce Them
มุมมอง 2674 ปีที่แล้ว
In this Research Update, Dr Kate Woodcock discusses the work of her research group which aims to understand syndrome specific factors underlying emotional outbursts in conditions including Fragile X Syndrome. In addition, Dr Woodcock discusses a new project which aims to test an intervention based upon this work, which aims to build resilience to changes to help children stay calm (www.katewood...
Assessing Anxiety in Fragile X Syndrome: Research Update, Dr Jane Waite, Aston University
มุมมอง 3134 ปีที่แล้ว
In this talk from the 2019 Fragile X Conference (7th September, University of Birmingham Medical School), Dr Jane Waite gives an update on the latest research from her team which focuses on assessing mental health in people who have intellectual disabilities and autistic characteristics.
Gene Editing and Fragile X Syndrome: The Status of Research and what the Future Might Hold
มุมมอง 7604 ปีที่แล้ว
‘Fixing’ genes using editing has been getting lots of press, for both good and bad reasons. But as a potential alternative to a drug-based route to reboot fragile X brain cells, just how feasible might editing the fragile X gene be? Dr Hirst's talk aims to explain what is meant by gene editing and what it might mean for fragile X. Along the way he takes a look at some of the hurdles that have s...
Fragile X Syndrome and Adulthood: Dr Andrew Stanfield
มุมมอง 1.1K4 ปีที่แล้ว
Dr Andrew Stanfield is a Senior Clinical Research Fellow at the Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disabilities at the University of Edinburgh. He is also an Honorary Consultant in the Psychiatry of Learning Disabilities in Edinburgh. In this talk, Dr Stanfield speaks about the research and his clinical experience in relation to adults with Fragile...
Fragile X Syndrome: autism, ADHD and classroom management
มุมมอง 1.7K5 ปีที่แล้ว
Fragile X Syndrome: autism, ADHD and classroom management
Our Family Story: Preimplantation Genetic Diagnosis (PGD) and Fragile X Syndrome
มุมมอง 2K5 ปีที่แล้ว
Our Family Story: Preimplantation Genetic Diagnosis (PGD) and Fragile X Syndrome
Thank you to all our #fragileXpedition supporters!
มุมมอง 2205 ปีที่แล้ว
Thank you to all our #fragileXpedition supporters!
Fragile X Syndrome: Adulthood & Looking to the Future
มุมมอง 20K6 ปีที่แล้ว
Fragile X Syndrome: Adulthood & Looking to the Future
Genetics & Diagnosis of Fragile X Syndrome
มุมมอง 8K6 ปีที่แล้ว
Genetics & Diagnosis of Fragile X Syndrome
Meet the Families: Understanding Fragile X Syndrome Video Series
มุมมอง 11K6 ปีที่แล้ว
Meet the Families: Understanding Fragile X Syndrome Video Series
Fragile X Syndrome: Experiences and Importance of Diagnosis
มุมมอง 23K6 ปีที่แล้ว
Fragile X Syndrome: Experiences and Importance of Diagnosis
I married into a family with 4 children. 1 girl with FX, 2 boys with FX & my husband with no FX. In the family there are 33 1st cousins & 17 have FX full-mutation & 1 with premutation. We were left in charge after my husband's parents passed away. We are all in our 60s now. My inlaws left nothing in place for anyone's care. I'm a RN & had to stop working to care for everyone. Financially we couldn't do it. The oldest most profound has a diagnosis of early onset dementia at age 50. The youngest who is also profound is violent. We got him on medication and it helped a little. They roam. I spent 6 years sleeping on the couch with an alarm on the doors so when they roamed outside in the middle of the night I could get them back in the house. Finally after 6 yrs I couldn't do it any longer. My husband tried to help but because I wasn't working he had to work more hours to support everyone. We found a home for them. They love it. They come home to visit but won't stay long because they might miss bingo. 😂 We visit. Our daughters & their families visit. I guess my whole point is... Be careful what you put on your noneffected child. It's alot! It's expensive. It's hard. It brings on alot of guilt feelings. As much as you love your FX child just remember to love the other as much. Things you don't think about with these children are as they get older they age faster. Health wise there can be early onset dementia which includes all that goes with that- food textures (choking), diapers(incontinent), meds for heart conditions, prostrate issues, hypertension, hypothyroidism, ect... Will your noneffected child be able to quit work to care for an aging sibling? Changing diapers on a grown man is not so easy. Their care is 24/7. No breaks. So please please please have a plan in place. Not just a It's OK his brother or sister will do it. God bless you and your beautiful family!
My family was seen by Randi Hagerman. My father had fxtas, and next year, I turn 50. I'm now living in the UK near Liverpool. Where could I go to be tested ?
Genetic testing is free on the NHS, so seeing your GP with a referral would seem the way to go.
Generation of sissies. Jesus christ
Send me ur contact number I want to show you my son s test who is 6 years old Massage me on +916006081449
Is any treatment in USA for this? I have a grandson that has passed from her mom!.
And that innocent mother inherited it from one of her parents, presumably your in-laws since you're looking for someone to blame. So your grandson has Fragile-X then. FXTAS generally affects the carriers in their 50s and 60s. Look to your local Fragile-X support group who can advise of doctors, neurologists, and educational supports.
He passed already at age 25... doctor don't know much about here in Illinois. Was admited to a hospital and because He had no way to comunícate. Nurses they just let him starve and temor can't be controled and were very painful dead...hope one day someone find the cure.
Thanks for sharing your story you have helped me make my mind up
Start the experiments on the primates already. If it’s showing progress in mice, what’s the hold up on primates?
Thank you so much for this video! Very helpful information on the PGD process for fragile x carriers.
I think I'm fragile x