[Informing members of families affected by fragile X syndrome of this diagnosis].
Fragile X syndrome (FXS) is a genetic disorder that may seriously affect the development of patients. One of the hardest tasks for the professionals of medicine is to tell the parents that their child is suffering a serious illness that may cause some permanent handicap. This normally implies drastic changes in live projects and expectations for the parents. The knowledge of diagnosis and the supply of information to the parents give rise to an important emotional impact on both parents and the rest of the family. In general terms, the patient implies more than a single ill person--a genetic illness such as FXS, which causes serious cognitive and behavioural disturbances, implies three situations that the family has to face: on one hand, the family has to accept a new world that had never been known; a son or daughter with a genetic disorder unknown not only for them, but also for most of the professionals they have visited before having a diagnosis, and in many cases with special needs and serious behavioural disturbances. On the other hand, the family must accept that the diagnosis may not be restricted to the patient, because some other members of the family could be suffering from the same illness. Finally, they have to face the fact that one of the parents has transmitted the illness, that is, 'the genetic guilt' in the illness of their son or daughter.
Carrasco
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Asociación del Síndrome del Cromosoma X Frágil de Andalucía, Spain.
D002648:Child; D005190:Family / Q000523:psychology; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis* / Q000523:psychology*; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing / Q000523:psychology; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D010290:Parents / Q000523:psychology; D011296:Prenatal Diagnosis / Q000523:psychology; D011368:Professional-Family Relations