Functional Symptoms in Medical Genetics

Abstract

Genetic disorders create significant pathophysiologic states that are the underpinnings of adverse experiences for affected individuals. Parents and health professionals face the challenge of distinguishing which reports of adverse experience call for medical intervention and which are best approached with empathy and environmental or psychological alterations. Parents and health professionals will seldom accomplish much by denying the existence of a symptom reported by a child; if the symptom does not connote a dangerous pathophysiologic state, that happy fact does not make it less real as an experience confronting the child. All the more difficult is the challenge when it is encased in a known foundational biological state resulting from a genetic disorder, and still further if it is also involving a reporter with intellectual disability. This does not make the challenge insoluble. Examples are discussed from the lives of persons affected by Down syndrome, velo-cardio-facial syndrome, and phenylketonuria. All three scenarios represent composite experience with persons affected by the three conditions in question.