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Showing posts from June, 2016

Jared Ulmers vlog called Porphyria J Check him out

APF Member, Jared Ulmer, has started a vlog on YouTube called Porphyria J.  It's a vlog devoted to creating community and awareness around Porphyria, specifically EPP, and how he lives with it during the sunniest and hottest season of the year.  The first episode of the 13 week series, called Summer Shade, aired last night. Comment, Like, Share and Subscribe for new episodes every Tuesday!   Jared will be covering a spectrum of topics and we hope you join him on his journey.
Check out the Porphyria J YouTube Channel here: Episode 1 of Summer Shade can be found here:

"Remember....Research is the key to your cure!"

Being Reallistic

A modest person is realistic. He recognizes that there are limits to his time, energy, and resources. So rather than trying to change everything at once, he makes improvement gradually. Trying to reach all your goals at the same time is a sure way to reach none of them! WHAT YOU CAN DO Work on your habits in realistic increments. The following steps may help: Create two ‘master lists’—a list of good habits that you would like to build and a list of any bad habits that you need to get rid of. Do not limit yourself; on each list, write down as many as you can think of. Prioritize the items on your lists, numbering them in the order of importance to you. Choose a few habits—even just one or two—from each list, and focus on those. Then move on to the next one or two habits on each of your lists. Speed up the process by replacing a bad habit with a good one. For example, if your list of bad habits includes watching too much TV and your list of good habits includes keeping in touch with lo…

How to Harness Your Habits

How to Harness Your Habits
00:00 01:53
WHEN Austin’s alarm clock goes off, he is sleepy. But he immediately gets out of bed, puts on the exercise clothes he laid out the night before, and goes for a brief jog—just as he has three times a week for the past year.
Laurie just had a fight with her husband. Angry and frustrated, she storms into the kitchen, pulls out a bag of chocolate candies, and eats them all—just as she seems to do every time she is upset. What do Austin and Laurie have in common? Whether they realize it or not, both have been affected by a powerful force—the force of habit. What about you? Are there good habits that you would like to build in your life? Perhaps your goal is to exercise regularly, to get more sleep, or to keep in closer touch with loved ones. On the other hand, maybe you would like to break a bad habit, such as smoking cigarettes, eating too much junk food, or spending excessive time on the Internet. Admittedly, it can be difficult to overcome a bad habit…

Patient Meet in Philadelphia

Over the weekend, Ariel Lager hosted a successful patient meeting in Philadelphia. There was a great turnout and Dr. Manish Thapar gave a wonderful presentation about the porphyrias before welcoming questions from the group. Alnylam Pharmaceuticals also made a great presentation about their current research studies. Jessica from the APF was able to attend the meeting and was very happy to meet so many people! **There will be another Patient Meeting in Indianapolis soon! Stay tuned for more information!**
Please let the APF know if you'd like to host a meeting in your area!  If you would like to receive the Apf E-News that contains information about Events, Research News, Research opportunities, and much much more please join the APF: "Remember....Research is the key to your cure!" American Porphyria Foundation added 3 new photos. Published by Rob Saupe' · 6 mins Over the weekend, Ariel Lager hosted a successful patie…

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria (EPP) and X-Linked Protoporphyria (XLP)

Erythropoietic Protoporphyria (EPP) or Protoporphyria Erythropoietic Protoporphyria is characterized by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells) and plasma (the fluid portion of circulating blood), and by sensitivity to visible light that is usually noticed in early childhood and occurs throughout life.  EPP can result either from mutations of the ferrochelatase gene (FECH), or less commonly the delta-aminolevulinic acid synthase-2 gene (ALAS2).  When EPP is due to an ALAS2 mutation it is termed X-linked protoporphyria (XLP), because that gene is found on the X chromosome.  Protoporphyrin accumulates first in the bone marrow in EPP, and then in red blood cells, plasma and sometimes the liver. Protoporphyrin is excreted by the liver into the bile, after which it enters the intestine and is excreted in the feces. It is not soluble in water so is not excreted in the urine.  EPP is …

Synonyms of Hepatoerythropoietic Porphyria

Hepatoerythropoietic Porphyria NORD gratefully acknowledges Ashwani K Singal, MD, MSc, Division of Gastroenterology and Hepatology, University of Alabama at Birmingham, for assistance in the preparation of this report. Synonyms of Hepatoerythropoietic Porphyriaautosomal recessive PCTHEP General DiscussionSummary Hepatoerythropoietic porphyria (HEP) is an extremely rare genetic disorder characterized by deficiency of the enzyme, uroporphyrinogen decarboxylase. This deficiency is caused by mutations of both copies of a person’s UROD gene, which means that the disorder is inherited as an autosomal recessive trait. Most affected individuals have a profound deficiency of this enzyme and onset of the disorder is usually during infancy or early childhood. However, some individuals may have a mild form that can go undiagnosed until adulthood. The childhood form of HEP is often associated with painful, blistering skin lesions that develop on sun-exposed skin (photosensitivity). Affected areas…

EPP Date with the FDA

HOORAY!! The APF, with your help, got an EPP meeting with the FDA! The meeting is scheduled for October 24, 2016 from 10am - 4pm (EDT) at the FDA. The FDA will be observing how many people are interested in this meeting so we need as many people as possible to attend. We MUST show them the extreme need for treatment. Great work, everyone! See below for more details!
Register here:
Dear Stakeholder, On behalf of the Food and Drug Administration (FDA), we invite you to an upcoming public workshop on Erythropoietic Protoporphyria (EPP) to be held October 24, 2016 from 10am-4pm (EDT) at the FDA Campus in Silver Spring, Maryland. Specific details are outlined below. The public workshop is intended to discuss how best to facilitate and expedite the development of safe and effective drug therapies to treat signs and symptoms related to EPP. FDA will provide information for and gain perspective from patients and patient advocacy organizations, health…

Dr. Bloomer Director of the Porphyria Center of University of AL of Birmingham speaks on ALAD

ALAD Porphyria NORD gratefully acknowledges Joseph R. Bloomer, MD, Professor of Medicine and Genetics, Director of the Liver Center, Director of the Porphyria Center, University of Alabama at Birmingham, for assistance in the preparation of this report. Synonyms of ALAD PorphyriaADPALAD deficiencyALA-dehydratase deficient porphyriadelta-aminolevulinate dehydratase deficiencyDoss porphyriaporphyria of Doss General DiscussionSummary ALAD porphyria is a very rare genetic metabolic disease characterized by almost complete deficiency of the enzyme delta-aminolevulinic acid (ALA) dehydratase. Deficiency of this enzyme leads to the accumulation of the porphyrin precursor ALA, which can potentially result in a variety of symptoms. Symptoms vary from one person to another, but usually come from the neurological and gastrointestinal systems. This disease is inherited as an autosomal recessive disorder. Introduction ALAD porphyria is in the group of disorders known as the porphyrias. The porphyr…