The importance of diagnosing a child with Fragile X early is two-fold. Firstly, there are many relatives who are at risk of having affected children who could benefit from genetic counselling, carrier testing and the offer of pre-natal diagnosis. Secondly, the child concerned can receive specialist help in areas of education, speech and language development and behaviour modification. Adults with Fragile X have specific problems too the understanding and management of which can be helped once their diagnosis is known.
Too few people have heard of Fragile X and still many doctors know little about it. Parents, when told they have a child with Fragile X can experience a sense of isolation and ignorance. The Irish Fragile X Society hopes to provide support for parents during this sensitive time.