Fragile X syndrome is the most common known cause of inherited intellectual disability, affecting around 1 in 4000 males and about 1 in 6,000 females.
It is one of a family of conditions caused by a mutation (change) to the FMR1 gene on the X chromosome. The FMR1 gene is responsible for producing a protein important for brain development. When the gene lengthens through the mutation, it switches off production of that protein involved in brain development and other functions.
Fragile X syndrome can cause a wide range of difficulties with learning, as well as social, language, attentional, emotional, behavioural and medical problems. The effects of Fragile X syndrome on an individual vary and can range from mild to severe. Men and boys commonly appear more severely affected by Fragile X syndrome, but women and girls may also be severely affected.
Fragile X syndrome is also the most common known single-gene cause of autism spectrum disorder. Up to 50% of males with Fragile X syndrome will meet the criteria for autism spectrum disorder. Approximately 2% of people who meet the criteria for a diagnosis of autism spectrum disorder have been found to have Fragile X syndrome.
It is estimated that in Australia, each week one child is born with Fragile X syndrome, and 20 children are born who are carriers of the FMR1 gene premutation.
While there is as yet no cure for Fragile X syndrome, there are a range of treatment interventions and management strategies that are of great benefit.
The funds raised through Bridge to Beach each year help fund the Fragile X Association’s Family Support Counsellor to provide unique support to people who are navigating life with Fragile X. Specialist counselling for individuals living with Fragile X, and their carers and family members, can make a real difference in quality of life through providing information and referrals, connection with peers, and in addressing mental health and daily living challenges.
The FX Counsellor is an essential support for hundreds of families across Australia who are living with Fragile X.
YOUR DONATION made in the Bridge to Beach online registration helps to make sure the Fragile X specialist counsellor service is available to make contact with Fragile X families on the Northern Beaches and right across Australia – by Zoom, phone, email, message or face to face.
FRAGILE X ASSOCIATION OF AUSTRALIA is a local charity based on the Northern Beaches, and has served the Fragile X community across Australia since 1989.
Learn more about Fragile X here: www.fragilex.org.au
Many thanks for your support!
