By RICHARD REECE, MD

When you hear hoof beats behind you, don’t expect to see a zebra.

Medical aphorism on the rarity of rare diseases

A rare or “orphan” disease affects fewer than 200,000 people in the United States. There are more than 6,000 rare disorders that, taken together, affect approximately 25 million Americans.

National Organization for Rare Disorders (NORD)

I have been asked to speak before a group of seniors about rare diseases. The thought fills me with trepidation. I am not an expert on rare diseases. There are so many of them. I fear being misquoted or misunderstood. I worry about malpractice implications, even though I am no longer in practice.

Nevertheless I am going to give the seniors my two cents worth, which is about what my opinion is worth. The temptation is irresistible. “To talk of diseases,” as Sir William Osler said, “is a sort of Arabian Nights entertainment.”Continue reading…