The importance of an early diagnosis


The identification and diagnosis of these rare diseases can pose a challenge for several reasons:

  • External symptoms of many LSDs often resemble symptoms of other, more common diseases, so it can take a while to pinpoint the real cause.
  • Some diseases can develop very slowly and consequently the external symptoms can hardly be noticed and easily overlooked.
  • Even in a particular disease, symptoms can often vary from patient to patient, making it difficult to identify "typical" LSD symptoms.