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That has led to breakthroughs in several conditions, including cystic fibrosis and spinal muscular atrophy. Nevertheless, with a small number of subjects to study and relatively few people to sell new drugs to, many rare diseases are overlooked by doctors and scientists, hampered by a lack of resources and public awareness. Initially, doctors thought he had a common form of cancer.
A CT scan — a series of images that give doctors a clearer picture of what is going on inside the body — revealed a body riddled with enlarged lymph nodes, a hallmark of lymphoma. The news struck a particularly cruel blow: Only a few years earlier, while Dr. Fajgenbaum was in college, his mother died of brain cancer.
He declined rapidly as his immune system went haywire. A retinal hemorrhage, a type of ministroke, temporarily blinded his left eye. Fluids leaked out of his blood vessels, a sign that his liver was failing.
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Over the next two weeks, he gained about 70 pounds of extra fluid and his brain fogged over. Mitchell said. When Dr. Mitchell said, the severity of the illness sunk in.
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Mitchell and the other medical students scoured textbooks and the internet, searching for clues. The top medical experts at Penn, meanwhile, were not having much more luck. Lymphoma was just one theory. Others thought it might be a severe case of lupus or even mononucleosis. But test after test was inconclusive. Finally, the doctors tried a huge dose of steroids. Slowly, his body began to fight its way back. His kidneys and liver began functioning again, and the extra fluid receded.
Seven weeks after he was admitted, Dr. Fajgenbaum walked out of the hospital. It was September It took only one month for symptoms to come rushing back, while he was convalescing at his childhood home in Raleigh, N. Doctors there shipped a piece of his lymph node to the Mayo Clinic in Minnesota, where pathologists finally pinpointed his disease.
Definition of 'stump'
The condition, called Castleman disease, was so rare that doctors at the hospital in Raleigh had no experience with it. Castleman disease had been known since the s but has remained largely a mystery. A hallmark of the condition is enlarged lymph nodes, and most people with the disease — about two-thirds — have a form that affects just one part of the body and can usually be cured through surgery.
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The form ravaging Dr. Only about 1, to 1, people are discovered to have it every year in the United States. One thing was clear: The disease was deadly. Only about 65 percent of people with the condition live for five years after it is diagnosed, studies have shown. Over the next few years, Dr. Fajgenbaum alternated between extended periods of relative health and frightening relapses.
His condition stumped even leading experts in the disease, people like Dr. Frits van Rhee of Little Rock, Ark. The tools that Dr. More than once, Dr. Fajgenbaum underwent a devastating, day course of chemotherapy that annihilated his immune system in an effort to knock his disease into remission. That year, in , Dr. Fajgenbaum was undaunted. On Sundays, his roommate tried to coax Dr. Fajgenbaum out of his bedroom, with its white board covered in notes, organizational plans tacked to the wall.
He rarely succeeded. Mitchell recalled. The more Dr. When disaster strikes: ways of describing bad events. Cambridge Dictionary Plus My profile How to Log out. Definitions Clear explanations of natural written and spoken English. Click on the arrows to change the translation direction. Follow us. Choose a dictionary.
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I'm completely stumped - how did she manage to escape? Scientists are stumped by this mystery virus. Marylebone Cricket Club.
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