Office of rare diseases list

Cover of a comedy recording by Rodney Dangerfield, with title of _No Respect_A rare disease, here in the United States, is one that affects fewer than 200, 000 people. Back in 1995, IA was estimated to affect about 1 in 10, 000 patients, which would work out to about 30, 700 people, based on the current US population. Other studies have found that anywhere from 6 to 60% of people who have anaphylaxis may not have an identifiable cause for the attack, and since anaphylaxis is considered to be a rare disease, IA must be, too.

But don’t go looking for IA over at the NORD web site. It is not included in their database of rare diseases. Mastocytosis is, and so is anaphylaxis, but even in the brief discussion of anaphylaxis, there is nary a hint given that anaphylaxis could ever occur for other than allergenic (IgE-mediated) reasons. IA is not even listed under the “Disorder Subdivisions” of anaphylaxis.

And if you sashay over to the National Institutes of Health Office of Rare Diseases Research, you will find that neither anaphylaxis nor IA are listed in their database. They list three different variants of mastocytosis and 18 diseases that include the term “idiopathic, ” but IA is among the missing.

Meanwhile, the Mastocytosis Society (TMS) is all geared up for Rare Disease day. That organization claims to be a patient support and advocacy group for mastocytosis, IA, and mast cell activation syndrome, but the video Lisa Sterling did for them over on YouTube begins, “Mastocytosis and mast cell activation disorders are rare.” That’s the same terminology used in their mission statement, and unless you just happened to know that IA could be considered a mast cell activation disorder, you would never guess that TMS purports to be educating the public about IA, too.

So here I am, all set to celebrate Rare Disease Day, only my very own personal rare disease hasn’t quite made the cut. Is it any wonder I’m feeling just a little like Mr. Dangerfield? ◊

Neuroradiologic Findings in Rare Inherited Neurologic Diseases of Childhood: Muscle-Eye-Brain Disease, Mitochondrial Disorders and Infantile Onset Spinocerebellar Ataxia
Book (Department of Radiology, University of Helsinki)

Popular Q&A

What former heavyweight champion died from a rare muscle disease in 1975?

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