Birds of a Feather: Being Rare Means Never Being Alone

Birds of a Feather: Being Rare Means Never Being Alone
A couple of years ago, Charlie Stephenson discovered a bright yellow Northern Cardinal in her backyard in Alabaster, Alabama. Stephenson contacted Geoffrey Hill, an ornithologist and coloration expert at Auburn University, about her unusual visitor, Audubon magazine reported at the time. Hill explained that Mr. Yellow, as he is now known, likely has a genetic mutation that causes xanthochroism. The condition occurs when the plant-based pigments in a bird’s diet cause its plumage to turn yellow or orange instead of red. From his research, Hill claims yellow cardinals have about a “one in a million mutation.” This year, Feb. 29 is Rare Disease Day. Rare disease patients and their caregivers honor the day “to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives,” according to organizers. The U.S. definition of a rare disease is one that afflicts fewer than 200,000 people. I’m one of about 700,000 men and women in the United States diagnosed with Crohn’s disease. That's only about 0.21 percent of the entire U.S. population of 329.3 million! I’m even more of an anomaly because of my Crohn’s-related primary sclerosing cholangitis (PSC) diagnosis. One in 10,000 people have PSC, and only 13 percent of PSC patients also have Crohn’s. I empathize with how Mr. Yellow must feel among his red-feathered brethren. As with Mr. Yellow’s condition, my chronic illnesses stem from genetic mutations. About 72 percent of rare diseases are genetic. However, unlike him, I don’t stand out in the crowd because my disease is invisible. Except for the occasional abdominal distension and bruising from bloodwork and Remicade (infliximab) infusions, no one would know by looking at me that I have debi
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