Rare Diseases Day 2011: When Those Hoofbeats *Are* Zebras

February 28, 2011
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February 28 is internationally recognized as Rare Diseases Day.  Yes, even though doctors are inclined to ascribe hoofbeats to horses rather than zebras, sometimes there truly is a zebra.

Why should we allocate precious dollars to researching uncommon maladies that affect only a small percentage of people?

1.  That uncommon malady may be a potential public health threat.

2.  Research of rare diseases invariably leads to information helpful to other, more-mainstream diseases.

Case in point: the sudden appearance of AIDS in the early 1980’s, at that time a rare disease, alarmed public health officials and enabled the research funding into its causes and treatment, normally extremely hard to obtain for rare diseases. The ensuing studies of HIV spilled over into massive and valuable information about the human immune system and how viruses behaved at a cellular level.

So although there is good reason for doctors follow the adage: “when you hear hoofbeats, think of horses, not zebras,” remember that this one just might be a zebra.

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