The UK Fragile X Society

Victor & Oskar - Fragile XIn 1987, the Fragile X Support Group was founded in East Sussex (UK) by Lesley Walker who had made contact with six families who had been struggling for years to find the cause of their children's problems and wanted to support each other and share information and personal experiences. Information on Fragile X was almost non-existent at the time. Even doctors had not heard of the condition!

 

Fragile X syndrome is the most common known cause of inherited intellectual disability. It occurs in males and females and is associated with varying degrees of learning difficulty. It is an X chromosome linked disorder. Girls with Fragile X can be less affected than boys and may simply appear slow in class, shy and anxious. Both men and women may be unknowing carriers of the syndrome with female carriers potentially at risk of premature ovarian failure and early menopause.

 

The Fragile X Society evolved out of the Fragile X Support Group, becoming a registered charity in 1990. ‘At the time it was difficult to diagnose Fragile X because, apart from particular behavioural problems, there was nothing to distinguish sufferers from other children,' says Lesley Walker, now the Society's Vice Chair. The gene causing Fragile X was discovered in 1991; today, a simple blood test is enough to diagnose the condition.

 

Kevin - Fragile X‘There have been difficulties along the way,' says Lesley Walker, who was the Society's national contact for many years. ‘We had to do lots of work before families were taken seriously, instead of being made to feel as though it was their parenting skills that were causing the problems! We worked hard on getting the help and support needed from social services and from the National Health Service (NHS). Another focus of ours was getting professionals to understand that Fragile X syndrome is not the same as Autism or Attention-Deficit Hyperactivity Disorder (ADHD) and needs to be managed differently. Information was therefore one of our first goals. To this day, it is still one of our stated objectives.' The Society can be proud of its achievements in raising awareness: an award winning DVD; a book “Educating Children with Fragile X”; a series of information booklets and over 100 publications covering all aspects of Fragile X, which have been sent to all special needs schools, genetic departments and medical practices in the UK; and a prestigious GlaxoSmithKline Impact Award in 2008, to name a few!

 

‘We deal with an average of 136 calls each month', continues Amanda Cherry. ‘The Society aims to provide support, information and friendship to Fragile X families, to educate and inform the public and professionals about the syndrome in order to improve patient care, and to encourage research. At the moment we are working on the redesign of our website, the production of a new booklet and the introduction of transitional support for families whose children are in education. Fragile X SocietyOther activities include regular conferences for families, a telephone link network for families who want support from other similarly affected families, and help lines - including one for Asian families in Gujarati, Hindi and Urdu. Our plans for the future include the co-hosting of the first conference for professionals in Scotland in May 2009, to promote awareness and understanding of Fragile X syndrome. The Society also works in partnership with many rare disease organisations in the UK, Europe and worldwide, and it took part in the EurordisCare 2 and 3 surveys.'

 

Amanda Cherry emphasises the importance of diagnosis. ‘If your child has developmental delay, very little speech and language, is hyperactive and has episodes of challenging behaviour, this may be because of Fragile X syndrome. Your child may also be mildly affected, may just be a little slow in class, and not exhibit some of the classic problems. However, it may be helpful to be referred for testing.'

 


This article was first published in the February 2009 issue of the EURORDIS newsletter

Author: Jérôme Parisse-Brassens Photo credits: Kevin © Corinne Fourrier; Fragile X Society © Fragile X Society; Vicktor & Oskar © Ingemar Hägg

Page created: 05/08/2010
Page last updated: 06/08/2013
 
 
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