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Showing posts from April, 2017

#NPAW2017 Ryan Taal & EPP~ Let's storm the doors down!

I have suffered from EPP since I was born. Shortly after I was born, my parents went camping and had me out in the sun. I very quickly began screaming and my parents were unable to quiet me down. Issues with being in the sun have run in my family. One of my Omas has had symptoms her whole life as well as her brother and some other relatives of hers. Because of this, my parents knew quickly that I had to be kept out of the sun. One of my brothers also showed symptoms of EPP. When he was a few years old, a doctor he had been referred too had him tested for EPP. It was decided then that since he was diagnosed with it, and I had the same symptoms that I also had it. My parents were also told they should keep us inside and out of the sun as much as possible. They instead decided to leave it up to us. We decided to try and live normal lives. My friends all played soccer so I also began playing soccer. On occasion, I would wear a long sleeve shirt or wear a hat if I was playing in goal, but …

#NPAW2017 Kelly Story & PCT

Kelly Story
Porphyria Cutanea Tarda (PCT)
My name is Kelly Story and I live with my husband, Chad, and two cats in Kissimmee, FL. In July of 1999, one month after our wedding, I was out of town on business, and I noticed tiny little water blisters all over my hands. The blisters didn't itch and were not painful. Although I found them to be very odd, I didn't worry much. Over a short period of time, my skin became extremely fragile. It seemed like almost anything would cause a scrape on the skin of my hands. Plus, the blisters got much worse. My hands looked like something out of a horror movie. I was so embarrassed all of the time, and I cried a lot. I went to a dermatologist. After two visits, he told me that he was fairly certain that I had PCT but suggested that I go to a specialist. After several humbling tests and weeks of waiting, I was officially diagnosed with PCT. The doctor said that I would have to start phlebotomies. This meant that over a pint of blood would be taken …

It's National Porphyria Awareness Week!

Look at what's going on!  It's National Porphyria Awareness Week! We have been getting submissions on what people are doing to RAISE PORPHYRIA AWARENESS! See their efforts below! Jared Ulmer (Porphyria J) was contacted by a student named Ashly from Whitehall High School in Mechanicsville, PA to share his story with Ashly's honors genetics class! Way to go Ashly! Here is the link:
John Krause chose to share his story on social media to raise porphyria awareness! Here is the link: 

Abdul Waheed Butt CEP

Abdul Waheed Butt Type of Porphyria:  Congenital Erythropoietic Porphyria (CEP)

Hello I am from Pakistan. When I was born, I was completely all right.  After 2 months when my mother cut my nails, there was some water. My parents checked with a skin specialist who said that I had disease of skin, (Congenital erythropoietic PORPHERIA) Gunther disease.
Now my age is 21 , and there are no special effect on me .  Doctors say to avoid sunlight and that my body is completely fine.. Only my hands and mouth are affected from the disease. If you can help me to get the treatment, I never forget your this faith work. God Bless U.

1. What is Congenital Erythropoietic Porphyria? Congenital erythropoietic porphyria (CEP), also called G√ľnther’s disease after the doctor who described it in 1911, is an inherited disease and the rarest of the main types of porphyria, In CEP the activity of an enzyme called uroporphyrinogen III synthase (UROS) is very low. This leads to increased production of porphyrins, cal…

My Journey with VP by Sean Albright

My porphyria story is a long and emotional one... I grew up having chest pain, vomiting and skin issues. nobody knew what was going on not even myself. I moved to Melbourne Florida when I was 16 and first heard about porphyria from the TV show House. My doctor's had tested for everything else so when I asked to be tested for porphyria they were fine with it. It came back with a VP diagnosis. I almost passed away due to wrong treatment for it. I now have my porphyria fairly in control and use my experience with porphyria and love of Motorsports to raise awareness for porphyria via racing. I have met some really cool people who have been here for support. a player​ for my local minor league hockey team has convinced me to start playing hockey. I know a few people who have porphyria and play hockey due to it being indoors.   I hope one day that those with porphyria are able to live more enjoyable lives It took over 17 years for a proper diagnosis. I have received Panhematin at least o…

Learn all about VP Variegate Porphyria by the NIH

Other Names: Porphyria variegate; VP; Porphyria, South African type; See More

Categories: Congenital and Genetic DiseasesKidney and Urinary DiseasesMetabolic disordersSee More
Summary Listen Variegate porphyria is a form of hepatic porphyria most common in the white South African population. This autosomal dominant disorder may produce acute attacks (as in acute intermittent porphyria) as well as skin photosensitivity.[1][2] The condition is caused by mutations in the PPOXgene which lead to deficiency of the enzyme protoporphyrinogen oxidase.