Undiagnosed conditions

Getting a Diagnosis

Introduction: Diagnosis before birth / Diagnosis at birth or soon after / Diagnosis in the infant years / Teenage or adult-onset diagnosis / Undiagnosed conditions

Undiagnosed conditions

A particularly difficult situation arises from time to time, when the specialists and geneticists have been unable to come up with a clear diagnosis to explain a set of problems that are obvious but unexplained. Often multiple problems may be present. Some conditions do defy clear diagnosis, but fortunately this is much less common than for previous generations.

The ideal situation is that all problems would be accurately diagnosed so that any treatment or other intervention can be made as soon as possible, and risk factors for other family members or future children understood. However, there may be a tendency to stop searching for a diagnosis once conditions for which some treatment or intervention exist have been discounted.

Given the increasing knowledge of diseases, the pace of research into rare disorders, and  improved clinical management, we think continued efforts should be made to give a complete diagnosis for even the rarest conditions.


Retrieved: 1 September 2008 12:00am
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