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What makes a rare health condition so difficult?
markavdb5 wrote in symptomx

What makes a rare health condition so difficult to solve is that you have to find a doctor who has solved the right rare condition.

Like in many professions, a Doctor tends to try and look for patterns that they can associate with something they recognize. In this case we are talking about matching symptoms to make a diagnosis. When people see something unfamiliar it is normal for them to try and fit it to something they do understand.  For those with rare diagnosis that can be a serious problem.  Imagine being treated for the wrong diagnosis and getting worse.  Now imagine repeating this misfortune over and over until you can find a doctor who has seen your symptom set before and correctly identifies your diagnosis.  This is costly to the patient and difficult if not impossible depending on the symptoms.

The issue here is one of human condition on the side of the doctor and patient.  The doctor cannot reasonably be expected to have experience with every possible diagnosis.   The patient being limited to publish research also has a slim chance of making a positive impact on the situation.  While the internet has created potential there is still no way for people to search for possible diagnosis based on their terminology.



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