Despite Parkinson’s not having a simple
blood test to make a clear diagnosis, the signs and symptoms are very well
known and common to most doctors. Rare diseases by definition are not observed
on a frequent basis, and a general practitioner (family doctor) cannot be
expected to know every rare disease known to mankind. He may never have heard
of a particular rare disease, let alone actually come across a patient
suffering from one. How would he know where to start, what to look for, or
which specialist he should send his puzzling patient to? It is unreasonable and
unrealistic to imagine otherwise. When student doctors learn about Gaucher
disease in medical school, there is simply one paragraph giving a rough outline
of the disease, which is probably the only information deemed necessary
regarding this particular rare disease. One day, the doctor may happen to come
across a Gaucher patient and more than likely the only one he’ll ever meet and
suddenly that one paragraph he learnt in medical school will suddenly take on
great importance.
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