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.
Even so, some of these products are astronomically expensive. The world's priciest drug is Alexion Pharmaceuticals' Soliris. Designed to treat paroxysymal nocturnal hemoglobinuria, a rare disorder in which the immune system destroys red blood cells by night, Soliris costs $409,500 a year, according to Forbes. Other examples include Shire Pharmaceuticals' Elaprase, which treats a metabolic disorder known as Hunter's Syndrome and costs $375,000 a year. Affecting just 500 Americans, Hunter's Syndrome causes brain damage, limited motion and shortened life expectancy.
"In many cases, those diseases previously had no treatments at all," Dunkle says. "We want to see the [drug-development] process accelerated, because if products have been FDA-approved for 200 diseases since 1983, that still leaves a lot that have nothing."
The terms "orphan drug" and "orphan disease" are fitting, she says, "because they convey the feeling of aloneness that patients often suffer. These are people who have in many ways fallen through the cracks."
Cindy Webber remembers how alone she felt after being diagnosed with microscopic polyangiitis, a blood-vessel disorder that causes nerve damage, skin lesions, and lung hemorrhages. It most typically affects middle-aged white people, and that's what Webber was in 2004 when, as a 44-year-old Chicago schoolteacher with two teenage kids, she started getting bruises that wouldn't go away.
This surprised her, because at the time, she felt vigorously healthy and ran three to five miles every day. Asked to fill out a form when she first sought treatment for the bruises, "I didn't have a doctor's name to put down on the form, because I didn't have a doctor." She hadn't needed one in years.
First, she was told the bruises would vanish. They didn't. Then she was told the plugged-up sensation in her ears was caused by allergies and would go away. It wasn't. It didn't.
"All these small symptoms kept simmering, and in May 2005 they went into a raging boil. I started to feel just awful all the time." Webber had high fevers and night sweats. Rashes erupted all over her body. Lifting her legs became excruciating. By the time nerve damage was detected, "my doctors had become very concerned. They sent me from specialist to specialist, but they all basically said they didn't know what was happening to me."
That year, Webber saw 13 different physicians, including a rheumatologist, an ophthalmologist and a nephrologist.
"As things got worse and worse, they were adding more doctors. I would lie in bed at night in extreme pain, thinking: Maybe this new doctor will work."
Finally, one of them did — and delivered the diagnosis.
"It was odd to be told I had something so rare. So I did what a lot of patients do: I went on the Internet. Big mistake," moans Webber, whose story was later broadcast as an episode of the reality show "Mystery Diagnosis." "It was like Pandora's box — so much information that was outdated, that was rumors, that was wrong. I was looking and looking for people who had this disease and were doing well."
Finally connecting with a fellow patient in Canada, Webber was so overwhelmed with gratitude for this stranger's frequent emails — saying, day after day, I've been there; I know how it feels; hang in there — that she started her own online support group. These days she's in remission and feeling much better: "I was fortunate to have excellent medical care, which a lot of people with rare diseases don't get." Although she knows of other patients who spent over $100,000 before even getting diagnosed, Webber says the most crucial factor in the rare-disease journey is "being your own advocate. If doctors don't know what to tell you at first, if they can't figure out what's going on, then keep going back. Don't be afraid that your persistence will 'bother' your doctor, and don't be afraid to seek second and third opinions, even if you have to travel to get them."
Fear of all kinds plays a big part in this journey.
"Having a rare disease gives you so much to process. You're wrestling with the unknown, and it's scary because you don't know how this will play out," Webber says.
Fear of pain. Fear of death. Fear of disfigurement and disability — and, inevitably, fear of how others will react.
Social stigma against the sick runs deep, and exposes the hypocrisy of a culture that calls itself compassionate, says Berkeley psychologist Jessica Bernstein, whose new documentary Blood and Honeyexamines the experience of living with chronic illness. Although diabetes is not rare, Bernstein was diagnosed in infancy with its less common form, Type 1. "Less than five percent of diabetics are diagnosed that young, so while growing up, I was always the only person in my school with it, and the only person with it everywhere I went."
She had her first blood-sugar seizure at age 3. At 39, she endures numerous diabetes-related conditions, including debilitating back and foot pain. What shocks Bernstein, and what partly informs her film, is how seldom anyone, even close friends, asks her how she's feeling.
"They're scared to ask, because they're scared to hear the answers. But that really hurts me. 'How are you?' is the first question you should ask a sick person, because sickness is such a dominant part of their world, so whoever refuses to talk about it is essentially cutting themselves out of that person's world."
In Blood and Honey, diabetic Susan Wendell, author of The Rejected Body: Feminist Philosophical Reflections on Disability, describes her horror upon watching Oprah announce one day on TV: "If you don't have your health, you have nothing." To Wendell's digust, the studio audience's wild applause affirmed this dismissal of the sick as worthless, destitute, invisible. Bernstein says the faddishness of "positivity studies" and "happiness science" underscores America's unwillingness to accept, much less embrace, the ill.
"In this culture we're terrified of pain and suffering, so we're taught to avoid and ignore pain and suffering, so we avoid and ignore people who are in pain and suffering."
That's a lot of avoidance. According to the National Institutes of Health, one in every 10 Americans suffers from a rare disease or disorder. If you don't have one yourself, you almost certainly know someone who does.
Bernstein says that while many people avoid her and fail to ask how she feels, others accuse her of malingering. If a diabetic can be told she's faking it, imagine what might be said to someone with pyknodysostosis, say, or congenital wandering spleen.
"It's been easier for other minority groups to unify and turn what unifies them into a positive thing, a source of pride — like when African Americans started saying, 'Black is beautiful.' But that's much harder when the thing that unifies your community is a life-threatening condition, and even more so when it's a condition shared by only a few thousand or hundred or dozen others."
Named for the Dutch pediatrician who first described it after seeing it among her patients, Cornelia de Lange Syndrome is a rare genetic disorder that causes cleft palate, developmental delays, excessive body hair, widely spaced teeth, abnormally small heads, eyebrows that meet in the middle, and missing limbs or parts of limbs. When the Connecticut-based Cornelia de Lange Syndrome Foundation arranges gatherings for patients and their families, "everyone can relax, because finally they don't have to feel like everybody's staring at them," says the foundation's assistant executive director, Marie Malloy.
CdLS patients "have physical, medical and cognitive differences that affect them from the tops of their heads to the tips of their toes. Some individuals are so mildly affected that they can get drivers' licenses and jobs and they're mainstreamed. Others are so severely affected that they will never walk or talk." Being physically different and being the object of scrutiny, Malloy says, "makes some families and patients very sad and some families and patients very mad."
Despite a breakthrough in 2004 that revealed the genetic mechanisms causing CdLS, "there's still no treatment. Wouldn't that be great if there was? But being a rare condition, it's never going to have as much funding for research as cancer or heart disease."
NORD, which operates programs that give uninsured patients access to free drugs, takes a hopeful view of the new health care bill.
"We knew there was never going to be a health care bill that was going to make us or anybody else 100-percent thrilled, but at least some of our key issues are going to be addressed," NORD's Mary Dunkle says. "We thought health care reform needed to eliminate lifetime caps on insurance," because treatments for rare conditions tend to be so expensive, and many rare conditions are chronic and lifelong. "It is our understanding that this bill, combined with the reconciliation bill, will do that."
According to psychologist Jessica Bernstein, we should value the sick as "modern-day elders," whatever their ages, "because they face adversity on a daily basis, head-on." This is especially true of those with rare diseases, whose added adversities include having to tell glassy-eyed inquisitors about bafflingly arcane cell, gene and joint malfunctions whose names don't make this any easier. (NORD's disease database includes an insulin-resistance condition called leprechaunism; an abnormality known as imperforate anus that causes the rectum to be connected to the vagina or to not even exist at all; and Jumping Frenchmen of Maine, an excessive involuntary startle reaction whose cause is unknown. Then again, the list also includes Alzheimer's Disease and bulimia.)
"These are people with valuable knowledge," Bernstein asserts. "These are people who can teach us about humanity."