Their diseases have strange, often polysyllabic names that even they had never heard of before being diagnosed. “Some days I wish I had cancer,” Mark Schreiber of Columbus, Ohio, wrote in a recent “My Turn” column in Newsweek magazine. He has aplastic anemia, where his body destroys its own newly formed blood cells. It could prove fatal. “When you have a rare disease like mine,” the 46-year-old wrote, “you don't fall through the cracks in the system, you fall through a gaping abyss.” People are confounded when they hear what you suffer from, sometimes afraid of getting close. And many times diseases that are rare, such as Shreiber's, don't get enough money for research or treatment development. It just doesn't pay the drug companies to lay out the bucks. And the strain of finding a diagnosis? Well, Joanne Thackray of Stuart, can relate. So can Inell Ingram of Jupiter, Ketly Blaise Williams of West Palm Beach, and Rose Sadlek of Vero Beach, who are among the many who suffer. Sometimes they suffer quietly, because their appearances can be deceiving. “I had elevated liver enzymes for years and they never knew why,” says Thackray, a Hospice social worker. “But they were slightly elevated, never enough to cause alarm.” So she dragged on for years, maybe 15 or more she figures, suffering from severe fatigue and chalking up her sluggishness and atypical enzyme readings to the over-the-counter painkillers she was taking. Her readings were determined not to be alcohol-related or caused by a hepatitis virus. But they were persistent. Then her brother, Larry, who is three years older (he's 56 and she's 53) developed a much more severe liver enzyme elevation that led to cirrhosis. His doctor tested for a condition that neither sibling knew about: hemochromatosis. Bingo. Larry had it. As a genetic disorder, it's fairly common. But the problem is, it's rarely diagnosed. And if Thackray's brother hadn't been diagnosed, she might never have been. “Because it's a hereditary disease, they said I needed to be tested. I got tested and sure enough, I had it.” “Right before I got diagnosed, I was experiencing fatigue and shortness of breath. I felt like I had lead in my feet. I would complain to the doctors; I was just dragging all the time.” But hemochromatosis never came up on the doctors' radar. That's because even though it is considered one of the most common genetic disorders in Caucasians, according to the National Organization for Rare Disorders, the condition often remains undetected and therefore is underdiagnosed. Also known as iron overload disease, it leads to excessive accumulation of iron deposits within cells of the liver, heart, pituitary gland, pancreas, and other organs, gradually causing tissue damage and impaired functioning. “I had never heard of this before,” Thackray says. “My mother was sick all the time and I have to wonder if she had it.” It can be discovered, or ruled out, with a simple blood test. She literally would bleed a pint of blood every week or two when she was first diagnosed to remove the iron. “I didn't work for a year and a half. Over your lifetime, iron builds.” The problem with odd diseases, as Thackray's case shows, is that medical professionals tend to misdiagnose them. Debilitating pain Nell Ingram of Jupiter, Fla. also had a rocky and horribly painful road to travel before her condition was pinpointed and treated. She started having what she calls “lightning strikes” in her jaw after the removal of a nonmalignant brain tumor in 1989. Drugs she took for six months ended those episodes. Until she had another nonmalignant growth removed, this time from her lung, in 2000. The terrible pain strikes started again, this time on the opposite side of her jaw. She tried everyone from a dentist to an accupuncturist to relieve the debilitating pain. “It's something that was there all of the time. I could start to brush my teeth, or the wind would hit my face, and it would set it off. You're always waiting for the next strike,” she said. She saw a neurologist who gave her several different pills, but they weren't working. Eventually, her condition was given a name: trigeminal neuralgia, a disorder of the trigeminal nerve that causes episodes of intense, stabbing pain in the areas of the face. Even then, the first treatment given wasn't effective long-term. In August, she had the so-called Gamma Knife procedure and she hasn't had an episode since. (The Gamma Knife is a noninvasive therapy using gamma rays aimed to treat only the tumor, trigeminal nerve, etc. with minimal risk to adjacent brain structures.) Although she says the years of intense pain never crippled her spirit, she is more than happy to have the pain stopped. For now. No one knows why the pain started, she says, and she knows it can always come back. But, says the 76-year-old accountant, “I am going to enjoy every day that I have without pain. Because even a half-second is too long.” That kind of fighting attitude is a hallmark in many such cases of rare and unusual diseases. Those who fight to find out what they have are usually poised to keep fighting. Doctor denial Rose Sadlek had to wrestle with not only her fears, but her surgeon. She has an extremely unusual cancer that only 2 percent of those with breast cancer contract: inflammatory breast cancer. About a year ago, she and her husband noticed that her left breast was red and enlarged and the nipple was inverted. There had been no pain to alert her to the severity of her condition. “This is common for this condition. No lumps or previous diagnosis. The previous mammogram had been less than a year before. It doesn't show up on a (regular) mammogram,” she says. The Vero Beach woman already had an appointment scheduled with her general practitioner, and she ended up going from that appointment to a soon-after scheduled diagnostic mammogram, which showed either simple mastitis or inflammatory breast cancer. “The surgeon said no way was it inflammatory breast cancer,” she recalls. “I found that it is most often misdiagnosed as simple mastitis. He said the condition should respond within 7-10 days with simple antibiotics if mastitis.” But Sadlek insisted eventually on getting a bilateral breast MRI, she said, which confirmed the inflammatory breast cancer. She saw an oncologist and her doctors recommended MD Anderson Cancer Center in Texas for treatment. Since then, she has gone every three weeks for three rounds of chemotherapy to shrink the tumor. At 66 and on Medicare, she has had to pay for travel, hotels, and meals so she can get her treatment in Texas. She was scheduled for a modified radical mastectomy and the follow-up seven weeks of radiation in Houston. “The radiologist said I have responded the best of anyone he has seen,” she said. “I'm feeling lucky ...” And maybe luck has something to do with who gets these diseases and who doesn't. Treatment hard to find Who has the genetic predisposition, the environmental exposure? It's not clear in most cases what the triggers are, or even what the best treatments may be. And the fact that these conditions tend to be rare or under-diagnosed can make getting treatment a trial. The relative good news is that not all unusual diseases are life-threatening. Those that aren't, however, can be extremely life-altering, as Ketly Blaise Williams found out. The West Palm Beach woman has a bald head, which she shaves to keep that way, because of the less-than-lavish head of hair she now has. Although she appears to have cancer, she has a condition called alopecia areata, which is an autoimmune disease that has left her with no hair on her scalp. She was in denial when she first started seeing patches of hair fall out 10 years ago. She blamed her barber, used hair color crayons to fill in blank patches, was petrified she had cancer. But Williams fought her fears for nearly a year before seeing a doctor. The diagnosis came pretty quickly, but the treatment suggested - steroid shots in the scalp - was too painful to stay with. Next, she tried ointments. Even when another doctor told her there was no hope of regaining her lost locks, she wore a wig, did hair weaves, anything she could to cover up the condition. “Every night, I took the wig off and dissolved in tears,” she says. Even after agreeing to shave her head, the sight of her baldness repelled her and she plopped the wig back on. “One particularly hot day, I snatched the wig off in my office, and said, ‘I'm done.'” It still took her a long time to get used to the stares. “But it made me more sensitive to others (in bad circumstances,)” she said. Today, her smile lights up a room with her hard-fought confidence. “Now I'm so used to it,” she says, “I don't even think about it.” - Cox News Service __
