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SATURDAY, March 20 (HealthDay News) -- People diagnosed with cancer have a difficult and scary battle ahead of them, but there's comfort to be found in the multitude of patient groups, medical associations, research facilities and hospitals dedicated to improving treatment of their disease.
But what if a person suffers from thalassemia, a blood disease that affects hemoglobin? Or cystic fibrosis, a disease that causes mucus to clog the lungs and pancreas? Or jumping Frenchmen of Maine, a disorder that causes an extreme startle reaction to unexpected noises or sights?
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These conditions all fall into the category of "orphan diseases" -- conditions so rare that they attract little attention and few research dollars. People who have an orphan disease often find themselves misunderstood and misdiagnosed, and with no immediate support available to them.
"We get phone calls from literally desperate people," said Stefanie Putkowski, a registered nurse and clinical information specialist for the National Organization for Rare Disorders, a nonprofit group dedicated to orphan diseases. "I don't know if they are hopeless. They are desperate. They can feel very isolated."
The U.S. Food and Drug Administration categorizes a medical condition as a rare disease if it affects fewer than 200,000 Americans at any given time. There currently are more than 6,000 known rare diseases that affect more than 25 million Americans.
"That's almost one in 10 Americans," said Mary Dunkle, vice president of communications for the rare disorders group. "Even though the diseases are rare, when you put them all together, a lot of people are affected."
People affected by a rare disease all have remarkable tales, their own personal odyssey through a health-care system that cannot figure out what's wrong with them, Dunkle and Putkowski said.
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