In honor of Rare Disease Day, I decided to check out the Rare Disease Database to make sure my rare disease was listed... and it is! Gilbert Syndrome's listing is there, and fairly accurate:
Gilbert syndrome is a mild genetic liver disorder in which the body cannot properly process bilirubin, a yellowish waste product that is formed when the liver breaks down old or worn out red blood cells (hemolysis). Individuals with Gilbert syndrome have elevated levels of bilirubin (hyperbilirubinemia), which occurs because they have a reduced level of a specific liver enzyme required for elimination of bilirubin. ... Bilirubin levels may increase following stress, exertion, dehydration, alcohol consumption, fasting, and/or infection.I did learn some other names for Gilbert's, including, Unconjugated Benign Bilirubinemia, Meulengracht's Disease, and Familial Nonhemolytic Jaundice. My personal nickname for it - Semi-Chronic Fatigue Syndrome - has not yet made the list. I call it that, as when my bilirubin levels rise, I feel it more as fatigue (and often hunger) without exhibiting too many outwardly visible signs of jaundice. It also makes my urine look like thick orange paint. Aren't you glad you asked?
Unfortunately, according to the Patient Organizations Database, there is not yet an organization dedicated solely to Gilbert's, although there are a few general liver and genetic disease organizations that would gladly accept me as a member.
So, how will you celebrate Rare Disease Day 2012? Visit rarediseaseday.org for fun party ideas, or maybe some serious life saving information.