AlterNet: Uncommonly Ill -- The Double Whammy of Suffering from a Rare Disease

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AlterNet / By Anneli Rufus

Uncommonly Ill -- The Double Whammy of Suffering from a Rare Disease
Being sick is bad enough, but having a disease shared by only a few other people means extra uncertainty, extra ostracism, and few if any medications.

April 7, 2010 |


Your life would be so much worse if you had stiff-person syndrome, cyclic vomiting syndrome or maple-syrup urine disease.

It's traumatic enough to be diagnosed with something you've heard of, much less something you haven't: Fox-Fordyce disease, for instance, which is characterized by intense itching of the armpits, nipples and pubic region. Or Melnick-Needles syndrome, which produces protuberant eyes and hairy foreheads. Or Pterygium Syndrome, which causes webbing of the neck.

In the United States, nearly 7,000 diseases and disorders are classified as rare. Some are genetic, some acquired; some are chromosomal, some bacterial. Some are degenerative, some sudden-onset. By definition, each such disease afflicts fewer than 200,000 patients nationwide — in some cases, less than a dozen. Even so, this amounts to 25 million Americans suffering from little-studied ailments whose treatments — because the lion's share of research money goes toward common diseases, with profits in mind — tend to be either nonexistent or incredibly expensive.

At a time when Americans are fixated on health care, people with rare diseases — and their families, as many of these afflictions are genetic and first manifest in infancy — face a future mired in mystery and unanswered questions.

"Because their symptoms mimic the symptoms of many other diseases, our patients are not diagnosed quickly," says Joyce Kullman of the St. Louis-based Vasculitis Foundation, an international organization founded in 1986 to help those suffering from an inflammation of the blood vessels that can lead to agonizing pain, organ damage and in some cases, death. "They feel so terrible that they can't drag themselves to work, so they have to quit their jobs, so they lose their insurance — but they still feel so terrible that they still have to keep going to doctors. It's a vicious cycle," Kullman says. ..........(more)

The complete piece is at: http://www.alternet.org/health/146338/uncommonly_ill_--_the_double_whammy_of_suffering_from_a_rare_disease