Genetic counselling and Fragile X
Any family or individual who is concerned that they may be affected or be carriers of Fragile X can have the blood test to look for the FRM1 gene on the X chromosome. Genetic counselling can provide information on prenatal diagnosing of a fetus at 9-10 weeks, advice on termination should the fetus be affected, on fertilization techniques that implant only fertilised eggs whose genetic material is normal.
Genetic counselors can offer ongoing support and information. It can be very difficult coming to terms with any disease. Inherited disorders that can be passed on and stay in the genetic material of many generations can be difficult to cope with psychologically. Fragile X can be present in the permutation form but not always affect the foetus and this also poses difficulties for couple planning a family. Being able to discuss fears and practicalities can be extremely helpful.The genetic counsellor can tell affected families what local support groups may be available to them.
The future for people with Fragile X
This will depend on many factors such the level of the affected person’s functioning, supportive networks, happy home life, educational facilities, good medical and social services. The condition is one that will not go away but the aim should be to maximise skills, live independently and find employment. Some may require supported living and work placements, and help throughout their lives.
Article Sources: National Fragile X Foundation, The Fragile X Society UK,
