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Showing posts from July, 2017

Acute Intermittent Porphyria strikes Claire Sadowniczak

Claire Sadowniczak Type of Porphyria:  Acute Intermittent Porphyria (AIP)
Claire Sadowniczak of Orlando, Florida, is a member of the APF. She keeps the group encouraged and laughing. Her stories about her turtle Alamo are sheer delight and lessons in tenacity for all of us. My mother and I have AIP; I started attacks at age 11. One thing that gives me great pleasure is rescuing a wild animal, nursing it back to health and releasing it back into the wild. One rescued 5" brown and black Florida mud turtle left me a present, an egg. It hatched on a freezing day, so I couldn't release it. The black hatchling was smaller than a dime, the shell still soft when I picked her up. I carried her in the palm of my hand as I was preparing a tank of gravel with a plastic sour cream lid as her "pond". We went to the pet store to try to find food small enough for her. They said I'd never keep her alive and she's now 11 years old. When I finally put her into her tank, she ran to…

Keep Yourself Moving!

Keep Yourself Moving “If exercise were a pill, it would be the most widely prescribed medication in the world.” (Emory University School of Medicine) Of all the things we can do for our health, few are more generally helpful than physical exercise. Exert yourself. Leading a physically active life can help us feel happier, think more clearly, have more energy, be more productive and, along with proper diet, control our weight. Exercise need not be painful or extreme to be effective. Regular periods of moderate exercise several times a week can be very beneficial. Jogging, brisk walking, biking, and taking part in active sports—enough both to get your heart beating faster and to cause you to break a sweat—can improve your endurance and help to prevent heart attack and stroke. Combining such aerobic exercise with moderate weight training and calisthenics helps to strengthen your bones, internal muscles, and limbs. These activities also contribute to maintaining a higher metabolism, which…

Rocco shares his story with EPP

Rocco suffers from erythropoietic protoporphyria (EPP), a genetic disorder that makes skin extremely sensitive to sunlight. The often almost invisible burns and the resulting severe pain are limited to the areas of skin exposed directly to light. Depending on their intensity, the symptoms can last for several days and may even require hospital treatment. Diseases like EPP may be rare but their impact is great. There are approximately 7,000 rare diseases affecting more than 300 million people worldwide. Novartis is committed to research to deepen the understanding of rare diseases and to help patients underserved by today's medicines. In addition, research into rare diseases teaches us about the fundamental mechanisms of human biology and disease, often applicable to more prevalent disorders. The views expressed in this story are Falchetto’s and not the views of Novartis. Sometimes the pain takes hold of the psyche and then takes over your life completely. At such moments, I have …

Organizations around the world unite for Porphyria links

The following organizations have websites in English The American Porphyria Foundation has a very extensive website, including a section for medical staff: www.porphyriafoundation.com
The Australian Porphyria Association is at www.porphyria-australia.org The following sites have web in their own language: Swedish Porphyria Association: home.swipnet.se/rmp Norway: Norsk Porfyriforening: www.porfyri.no Porphyria Association Denmark: www.porfyriforeningen.dk Italian Porphyria Association: www.amapo.it Dutch EPP Foundation: www.epp.info EPP Germany (who also cover other types of porphyria) www.epp-deutschland.de Porphyria Association of Poland: www.porfiria.pl France: Association Française des Malades Atteints de Porphyries: www.porphyries-patients.org Spain: Asociación Española de Porfiria: www.porfiria.org

Porfiria

Porfiria Introducción Las porfirias son un grupo de trastornos genéticos causados por problemas con la forma en que el cuerpo produce una sustancia llamada hemo. El hemo se encuentra en todo el cuerpo, especialmente en la sangre y en la médula ósea, donde transporta oxígeno. Existen dos tipos principales de porfirias: Uno es el que afecta la piel (cutáneo) y el otro es el que afecta el sistema nervioso. Las personas que tienen porfiria cutánea desarrollan ampollas, picazón e inflamación en la piel cuando se exponen al sol. El tipo de porfiria que afecta al sistema nervioso se llama porfiria aguda. Los síntomas incluyen dolor en el pecho, abdomen, brazos o piernas, espalda, adormecimiento de los músculos, hormigueo, parálisis o calambres, vómitos, estreñimiento y cambios mentales o en la personalidad. Estos síntomas pueden aparecer y desaparecer. Algunos desencadenantes pueden causar una crisis, como ciertas medicinas, el cigarrillo, el consumo de alcohol, las infecciones, el estrés y…

What are common signs and symptoms of AHP?

What are common signs and symptoms of AIP? Severe abdominal pain: the most common AIP symptom The most common symptom of AIP is severe abdominal pain that usually cannot be relieved with pain medicine such as Advil® (ibuprofen) or Tylenol® (acetaminophen). More than 85% of people who develop AIP symptoms have abdominal pain. Experiencing symptoms is known as having an “AIP attack.” Symptoms may occur for a set period of time, then go away – only to come back later. Common AIP symptoms Symptoms can occur in many different areas of your body during an AIP attack. These include: GASTROINTESTINAL (GI) SYMPTOMSAbdominal painVomitingConstipationDiarrhea GASTROINTESTINAL (GI)URINARY SYSTEMBRAIN OR NERVOUS SYSTEMHEART OR BLOOD VESSELS Early diagnosis and treatment of AIP are critical AIP attacks can be very serious. And symptoms may get worse over time. Untreated attacks can cause serious damage to your nervous system —including paralysis, and even death. That's why early diagnosis and tr…

Updates on PCT Porphyria

Porphyria cutanea tarda Created 1997. What is porphyria cutanea tarda? Porphyria cutanea tarda (PCT) is the most common type of porphyria. An increase in porphyrins in the skin result in photosensitivity, ie, the skin is damaged by light. What are the symptoms of porphyria cutanea tarda? Individuals with PCT present with increasingly fragile skin on the back of the hands and the forearms. Features include: Sores (erosions) following relatively minor injuriesFluid filled blisters (vesicles and bullae)Tiny cysts (milia) arising as the blisters healIncreased sensitivity to the sun Although these features may also occur on the face and neck as well, it is more common to notice mottled brown patches around the eyes and increased facial hair (hypertrichosis). Occasionally the skin becomes hardened (scleroderma) on the neck, face or chest. There may be small areas of permanent baldness (alopecia) or ulcers. Characteristically, the urine is darker than usual, with a reddish or tea-coloured hu…