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

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.

Early diagnosis can lessen damage to the body, but getting a rare disease diagnosed often takes years. For one-third of the participants in a 2003 study performed by the National Organization for Rare Disorders, the process took five years or more.

"It's frustrating, and just getting a diagnosis can itself be very expensive as you're going from doctor to doctor," says NORD's vice president of communications, Mary Dunkle. "Getting the diagnosis is the first hurdle, as putting a name to what they have can be helpful to people." But then comes the nightmare of treatment — or lack of it. Because most rare diseases lack specific FDA-approved therapies, patients are often treated "off-label," Dunkle says: that is, prescribed treatments that are FDA-approved for other conditions.

"This can lead to reimbursement problems when insurers won't pay for something that's not FDA-approved for their specific conditions. This is true of Medicare and Medicaid as well as private insurers," Dunkle says.

NORD was established in 1983 by leaders of several different rare-disease organizations — including the widow of folk-music icon/Huntington's Disease patient Woody Guthrie and the mother of a Tourette's Syndrome child. They hoped that by working together, they could more effectively lobby for legislation promoting the development and accessibility of treatments for rare ailments, which — because they're medically neglected — are also called "orphan diseases." Their efforts were rewarded with the Orphan Drug Act, which passed in 1983 and allows companies that develop drugs for rare disorders to sell these drugs without any competition for seven years, with the potential added bonus of clinical-trial tax incentives. Since its passage, 360 products have been approved to treat some 200 diseases.