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Showing posts from May, 2019

Judy Snyder Personal Story of AIP

JUDY SNYDER TYPE OF PORPHYRIA Acute Intermittent Porphyria (AIP) It was early April 1997, and I was truly enjoying my job as the guidance department chairperson of a suburban Philadelphia high school and my caseload of 10th thru 12th grade students. But the stresses of the workload were wreaking havoc on my health. I was always in pain and uncomfortable. The doctors were always prescribing stronger doses of pain medication or injection therapies. My hospitalizations were more frequent and for longer periods of time. My internist at that time insisted that I take a medical sabbatical for a year to give my body time to recover and to allow me the time for advanced testing. It was a hard decision to make, but I knew I was not physically or mentally able to give the 200% effort I gave to my job. So I decided to do what the doctor ordered. Then on Memorial Day of that year, Larry and I were in a serious automobile accident which left me with severe abdominal pain and a wackier-than-usual ne…

European EPP Camp For Teenagers (Ages 7-17)

European EPP Camp For Teenagers (Ages 7-17) Welcome to the 1st summer camp for EPP teenagers. We gather together and live some beautiful adventures in the south of France. This camp is located in a very safe neighborhood. The camp is open for every EPP teenager and we welcome you all. Some Countries that have already participated in this event are from Switzerland, Denmark, France and now is open to the United States.
 Below is the summer camp FB: and website:
For any information you can send me an email to:
(When sending an email we encourage you to use Google translate)

Medical Moment: Genetics

Medical Moment: Genetics The porphyrias are inherited genetic conditions, which means that people with a porphyria have changes to certain genes that affect their body’s ability to regulate itself. When genes are copied, either to make new cells or to make a child, sometimes the body makes an imperfect copy. There can be little changes in the genes, called mutations, which can occur randomly. Sometimes these changes do not make any difference in how well the gene works, but other times they can keep the gene from working properly (referred to as mutations) and are disease causing. In the porphyrias, these mutations are in the genes involved in a certain chemical pathway, called the heme biosynthetic pathway. Heme is a compound that the body needs to make hemoglobin and there are several steps to make this compound in the body. Each type of porphyria is caused by a defect in a specific enzyme in the heme biosynthetic pathway. Without these enzymes working properly, the body is not able …

101 PCT Porphyria

Porphyria cutanea tarda
Other Names: Porphyria, hepatic Categories: Congenital and Genetic DiseasesEye diseasesKidney and Urinary DiseasesSee More This disease is grouped under: Porphyria Summary Listen Porphyria cutanea tarda (PCT) is a form of porphyria that primarily affects the skin. People affected by this condition generally experience "photosensitivity," which causes painful, blistering lesions to develop on sun-exposed areas of the skin (i.e. the hands and face). Skin in these areas may also be particularly fragile with blistering and/or peeling after minor trauma. In some cases, increased hair growth as well as darkening and thickening of the affected skin may occur. Liver abnormalities may develop in some people with the condition and PCT, in general, is associated with an increased risk of liver cirrhosis and liver cancer.[1][2] In most cases, PCT is a complex or multifactorial condition that is likely associated with the effects of multiple