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HEALTH SENSE
But for 20 to 25 million Americans, the problem really does turn out to be zebras, that is, one of more than 6,000 rare diseases. And that rarity can be a huge problem, far beyond whatever emotional and physical toll the disease itself takes.
Geri Malter, for one, has ''the wrong kind of cancer.''
When Malter, 54, an ultrasound technologist from West Newton, sees her doctor at the Dana-Farber Cancer Institute, she looks in at the beautiful new radiation oncology suite. But that's mostly for women with breast cancer, not retroperitoneal liposarcoma, the rare fatty tissue cancer that's growing in the back part of her abdomen.
She's had 13 surgeries in the last 16 years to remove the tumor and faces more soon because it keeps growing back and chemotherapy doesn't seem to help. Yet there's nobody out there marching for her, or holding rallies or lobbying congressmen.
''I tell friends that if I can hold on and keep fighting this disease, that there just might be a `magic bullet' for me,'' she says. But in reality, she adds, ''without research, there can't be progress.''
Joanne Zeis, 43, an Uxbridge woman who works in her husband's market research firm, has the wrong disease, too - a rare condition called Behcet's syndrome, a chronic inflammatory disease that affects her blood vessels.
''It's very frustrating'' having something nobody's heard of, she says, adding that many people simply don't believe she's sick. ''Eventually, you learn not to talk about it. All that happens is you look like you're trying to get attention.''
It's hard enough getting any bad news from the doctor. But it's even tougher if the doctor can't figure out what's wrong.
In fact, for many rare diseases, the first big hurdle is getting a diagnosis. ''Most doctors are geared toward sore throats, blood pressure, and arthritis,'' says Abbey Meyers, president of the National Organization for Rare Disorders (NORD), a nonprofit group that compiles information on 1,100 diseases.
''People go from doctor to doctor,'' she says. Often, there's no simple test.
For a third of people with rare diseases, in fact, it takes one to five years to get a diagnosis, says Stephen Groft, director of the rare diseases office at the National Institutes of Health. For 15 percent, it takes more than five years.
That uncertainty is so stressful, says Meyers, that people often feel relieved when they finally get a diagnosis - even if their disease is fatal.
''To at least know what you have is helpful,'' agrees Linda DeBenedictis, founder of the New England Patients' Rights Group. People feel anxious when they can't put a label on symptoms, she says. It becomes ''a psychological issue.''
After diagnosis, the next challenge is trying to learn more about a disease that most people, including most doctors, know nothing about. Some patients are simply handed a photocopy of a paragraph from a medical textbook, says Meyers. Increasingly, however, many are finding the information they need from a growing number of sources, including NORD (www.rarediseases.org), on the Internet.
That may be empowering, but the other side of the coin is that for many rare diseases, ''there's no treatment,'' says Meyers. For some, there are clinical trials of experimental drugs, but finding them is tough, though the government's website (http://rarediseases.info.nih.gov/ord) can help.
Even if you do find a clinical trial, the logistics of participating can be daunting. ''If you're lucky enough to get into a clinical trial, you can bet there's none near your house,'' says Meyers. ''Most people with rare diseases cannot even find a doctor nearby to take care of them, so they have to travel long distances just to see a specialist.''
Some private pilots fly patients long distances for experimental treatments, but so far, most ''major airlines are not stepping up to the plate,'' she says.
Then there's the medication issue. Even when drugs exist for a rare condition, they can be expensive and may not be included in the lists that health insurers use to decide which drugs to pay for.
Thanks to the Orphan Drug Act of 1983, drug companies have an incentive to develop drugs for diseases that affect 200,000 people or fewer. They get seven years of exclusive marketing rights for an ''orphan'' drug, starting from the date the drug is approved by the government.
But because so few people will ever buy an orphan drug, companies often charge a lot. Genzyme, for instance, makes a drug called Ceredase and a newer one called Cerezyme for Gaucher's disease, a rare congenital disorder of lipid metabolism. But only 2,500 patients worldwide take these drugs, which cost $150,000 to $170,000 a year.
Rare diseases get short shrift on research funding, too, advocates say, though proving that is tough because the government does not track spending on many rare diseases.
(Funding isn't exactly even-handed for common diseases, either, in part because patients with more political clout steer research dollars toward their diseases. Lung cancer, for instance gets $800 in research dollars per patient death, compared with $7,500 for breast cancer and $30,000 for HIV and AIDS, some data suggest.)
But for many people with rare diseases, perhaps the toughest problem is the isolation.
''People don't know of anyone else who's ever had it,'' says Ed Madara, director of the New Jersey-based American Self-Help Clearinghouse. Since 1986, he says, the number of diseases with self-help groups has swelled from 332 to more than 700, a sign that doctors are increasingly able to identify rare diseases and that patients with them are getting more active.
Still, many people find that if they want support for coping with a rare disease, they have to drum it up themselves.
When Ben Cantor, 89, a retired photographer in Belmont, was diagnosed with ataxia, a coordination disorder that impairs walking, balance, and speech, he wanted a support group. There was none, so he formed his own with a fellow patient. It's been ''fantastic,'' he says. ''We act like a family - everybody can speak. Everything is confidential.''
Cynthia Wisniewski, 44, of Wayland, whose 61/2-year-old son was diagnosed with a form of ataxia called ataxia telangiectasia when he was a year old, can echo that.
''At the time we were diagnosed, there was not much on the Internet,'' she says. So she and her husband banded together with three other families with kids with the disease. Those ties have been ''extremely therapeutic for us,'' she says.
Geri Malter, the sarcoma patient, puts it this way: What people with rare diseases really need is ''attention and emotional support,'' she says. ''It's just plain lonely to have a disease that nobody talks about.''
Judy Foreman is a member of the Globe Staff. Her e-mail address is: foreman@globe.com.
Previous ''Health Sense'' columns are available through the Globe Online searchable archives at http://www.boston.com. Use the keyword columnists and then click on Judy Foreman's name.
This story ran on page C01 of the Boston Globe on 06/28/99.
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octors have a saying: When you hear hoofbeats, think horses, not zebras, which means: if you're stumped by a diagnosis, think of the most likely cause, not the rarest or most exotic.