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  • Essay / Porphyria - 1080

    “Severe pain, paralysis, and discomfort took over my body, as the doctors of the week seemed to think I was either an invention, crazy, or anorexic. Eventually they discovered it was porphyria, inherited from my father... We learned that the antibiotics prescribed for a minor infection probably triggered it in my case, but after that I usually had seizures during my premenstrual period. These attacks varied in severity, but the pain and vomiting were ever-present… My weight gradually decreased, as I was unable to gain it back in the short time between attacks, leading to a seizure which left me almost completely paralyzed. (Elizabeth, 2011) Porphyria is an inherited disease that only requires one parent to pass it on. Porphyria has eight different forms, but all have an abnormal buildup of porphyrins, caused by heme, a part of red blood cells that gives them their color and carries oxygen (drugs). Irregularities in heme affect the chemical porphyrin, which gives the disease its name. Porphyria attacks nervous and muscular symptoms. This can cause abnormal skin reactions to the sun, as well as seizures, nausea, and other symptoms. People with porphyria should generally avoid sitting in the sun without protection and should keep stress levels low, as this can cause porphyria symptoms or an attack. Porphyria is caused when heme is disrupted. Heme synthesis involves eight different enzymes, which creates eight different forms of porphyria. Disruption of heme causes porphyrin to accumulate in various locations throughout the body. This eventually causes problems with the liver, which will make the urine dark. This is why most cases of porphyria have liver problems (American Porphyria Foundation).P...... middle of paper ......utanea tarda like symptoms. Up to 5,000 people reported having symptoms of blisters on their skin. In Gaston Leroux's original novel, The Phantom of the Opera, the ghost's facial deformity is believed to be caused by porphyria (American Porphyria Foundation). Porphyria is a serious illness that can cause severe pain, paralysis or even death. . However, if diagnosed and treated correctly, it can be a manageable condition. Most deaths occur in people who do not know they have it when they are exposed to alcohol, toxins or changes in diet. However, people with this condition are able to learn and persevere despite their illness and adapt to lead normal, comfortable lives. New research is making it possible to develop new drugs that can limit the seizures that people experience. Tests are also used to detect porphyria at earlier ages..