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Showing posts from April, 2015

Katie Fabian & EPP

My name is Katie Fabian and I have EPP. 

 I was diagnosed very very young, after my mom discovered some behavior when I was exposed to the sun. 

 I have had my share of ups and downs growing up.  I have missed so many pool parties because they would be during the day.  I had to cover up from head to toe when I played soccer and softball, and occasionally I would get a taste of the sun, making me very sick. 

 During gym classes in school, I would have to cover up, and eventually I had to give up doing outdoor activities, and do physical activity articles instead, to keep my grade up. 

 During the summer, I would wear shorts, t shirts, just to try to be "normal", but I suffered the consequences every time.  I've learned now to do all of my activities in the evenings, to prevent me from having future attacks.

  When I get a reaction, I itch profusely, and my anxiety starts kicking in.  My skin gets very pink, and sometimes purple, depending on the severity of the attack. 

The nex…

Diagnostic Testing for the Acute Porphyrias - Clarification of Testing Results

Diagnostic Testing for the Acute Porphyrias - Clarification of Testing Results It has come to our attention that some patients who have been diagnosed clinically as having Acute Intermittent Porphyria (AIP) or another acute hepatic porphyria could not be confirmed by either biochemical or DNA testing. Biochemical testing is the demonstration of increased urinary ALA and PBG, and these values are highest during an acute attack when patients are symptomatic. Some patients can have high levels in between attacks as well, but not all. Positive diagnostic values should be increased greater than 5 times normal, not just a slight increase (less than 3 times normal) which can occur with dehydration. Most commercial laboratories and in particular the Porphyria Lab at the University of Texas Medical in Galveston which is run by Dr. Karl Anderson, will perform these tests properly. It is important that the doctor order urinary ALA and PBG and not a "porphyrin profile."​ DNA, or molecula…

~ King George III and Porphyria ~

~ King George III and Porphyria ~ Some historians have speculated that King George III of England suffered from Variegate Porphyria. According to notes made by the physicians attending him at that time, he suffered symptoms similar to those seen in an acute attack of porphyria: abdominal pain, constipation, rashes, confusion and severe weakness in his limbs. They also mentioned that he had dark reddish urine during these sieges and that he was often "mad." The royal physicians were not permitted to conduct extensive physical examinations, so they had to depend on what King George told them about his condition. On one occasion when he was having a relapse of his mental and physical symptoms, Parliament debated his ability to maintain his position as King. Interestingly, he spontaneously recovered. Since George III ruled during the American Revolution, he was thought to have had a significant impact on Britain’s loss to the revolutionaries. His mental and physical lapses were…

Amy Chapman AIP Story Supports #NPAW

Amy Chapman Type of Porphyria:  Acute Intermittent Porphyria (AIP) My name is Amy Chapman, and I am 40 years old. I was diagnosed with AIP on December 19, 2007, by Dr. Karl Anderson at the University of Texas Medical Branch (UTMB) Porphryia Center in Galveston. I am the first one in my family to receive Panhematin, and also the first to have my DNA tested at the Mount Sinai Porphyria Clinic so that other family members could be tested for the disease even if they are not ill. I am also involved in an AIP study with Mount Sinai now. It took me a total of five times to get the tests done right. All along I was constantly sick. Since I was diagnosed, my attacks have been treated with Panhematin infusions over six different hospitals stays, ranging from 4 to 14 days. Looking back, for years before my diagnosis, I was sick every three weeks on average. In addition to porphyria, I have always been prone to colds and sinus infections, and every time I have one, like clockwork, an AIP attack fol…

Thank You for supporting #NPAW

** Thank You ** Thank you all for helping make this a fantastic National Porphyria Awareness Week. We've had some great Events that took place this week and many more that are in the works. Stay tuned for News about the past and future events. ~ It doesn't End here ~ Please take every opportunity to share this new knowledge and the resources you now have about Porphyria at your disposal. Just like little Abby May in this photo, stand up for your loved ones and speak out. Correct information is critical for proper Porphyria care. ‪#‎NationalPorphyriaAwarenessWeek‬

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

Desiree Lyons Personal story of AIP Support #NPAW

Desiree Lyon

I was only seventeen years old when I suffered my first attack of porphyria. The onslaught of pain was rapid and vicious. When I was asked by the attending physician to describe the pain, I likened the agony to that caused by a thousand flaming swords imbedded deeply in my abdomen. Unfortunately, my physicians, who were unable to find any explanation for my condition, viewed my seemingly exaggerated description with an air of disbelief. Their wariness was further validated when the undiagnosed pain and accompanying weakness disappeared after a few days without any apparent treatment. What a fluke; we thought. The obvious medical explanation for the short-lived episode was simply that I was an over-anxious, young woman with little tolerance for menstrual cramps and a notion for hypocondriasis. Although I knew that this was not the case, I thought no more of the horrendous bout with pain and promptly returned to my studies and active life as a high school senior.
Several y…

Andrew Turell and EPP Story #NPAW

Andrew Turell
Type of Porphyria:  Erythropoietic Protoporphyria (EPP)
Andrew's Story Although I was not diagnosed with porphyria until I was 10 years old, I have always suffered from the pain caused by spending too much time in the sun.  As far back as I can remember beach vacations and summer camp were always linked with itching, burning and sleepless nights.  Before I was able to verbally articulate the sensation, the only reason my parents believed that the pain was real was because I would continue to scratch my hands and face even once asleep (fortunately, I do not get blisters or other visible symptoms).           I visited a number of doctors and was tested for a variety of allergies, but nothing stopped the reactions.  Every summer, I would inevitably experience a handful of painful reactions that would last between two and three days.  Ice packs and cool wet towels were the only things that could alleviate the itching and burning.  Unable to sleep, I would hole up in the ba…

#NPAW Story of Greg And Juliet Wilkerson PCT

Greg’s story, as written by his wife Juliet (caregiver)
My husband Greg is a literal mystery case. He has a laundry list of diseases that his docs at JohnsHopkinsUniversityHospital could not figure out. We relocated to Eastern Tennessee, and he continues to be a medical mystery. Today, I will share his porphyria (PCT) journey.

Greg and I lived on the Eastern Shore of Maryland for most of our lives. For many years, Greg had been having terrible outbreaks/rashes/etc on his arms, hands, and face. We saw our PCP frequently, and she kept giving Greg cream after cream after cream using reference books as a guide. He saw a dermatologist who biopsied a lump on his neck and said it was something “hormonal.” When we asked about his hands and forearms, he just gave him yet another cream! We were dumbfounded and perplexed and completely clueless at the time!  Greg had been so sick with painful bumps and blisters, severely sunburned skin, general malaise and many other symptoms.
Greg and I have kno…

Amanda Boston with VP

Amanda Boston Type of Porphyria:  Variegate Porphyria (VP) I first saw the opportunity to participate in research studies on the American Porphyria Foundation (APF) Facebook Page.   As soon I as I saw the post I knew I would love to volunteer!  As a young woman in my twenties, I have a vested interest in the race for a cure, and the development of new treatments.  Research studies even help document treatment options that are tried and true in some areas of the country but not others, which is a important in getting insurance companies to consider the treatments normal and standard and therefore a covered expense.  This too is crucial in getting patients treatment.   I participated in three studies in 2014, the Longitudinal study, the Panhematin Study and the Anylam Study.  The Longitudinal Study required no travel, just some lab work coordinated through my personal physician.  The Panhematin Study involved traveling to the University of Texas Medical Branch (UTMB) in Galveston, TX.   …

Amy Rose Burke and PCt for #NPAW

Amy Rose Burke Type of Porphyria:  Porphyria Cutanea Tarda (PCT)
Amy Rose Burke During the summer of 2009 I started having symptoms that were quite strange.  I noticed my urine was a dark copper color and was experiencing some slight pain in my stomach.  After visiting my family doctor a few times he decided to send me to an urologist to check for kidney stones.  I had a CT scan and the doctor did not find any signs of kidney stones, however the test did show a spot on my liver, which he dismissed and told me not to worry about at this time. After continuing to have problems with my urine, and having my doctor say, “I don’t know what you are eating or drinking to make your urine this color”, I decided to try to drink more water and assumed it was just something quirky going on.  A few short weeks later, I started to develop large water blisters on my fingers, on both hands.  I also started to develop a strange rash on my forearms.  I was quite embarrassed by the rash and I was constantl…

Porphyrins & Porphyria diagnosis

Porphyrins & Porphyria diagnosis The porphyrias are caused by deficiencies of enzymes of the heme biosynthetic pathway. This pathway, like other chemical pathways in the body, is a sequence of steps leading to a final product, in this case heme. Heme is essential for life, and each enzyme is also essential, because it is responsible for one of the eight steps in making heme. Each porphyria is due to a deficiency but not a complete absence of one of the enzymes. Read the full Article through the link below. ‪#‎NationalPorphyriaAwarenessWeek‬
"Remember....Research is the key to your cure!"
Porphyrins & Porphyria diagnosis | American Porphyria Foundation The porphyrias are caused by deficiencies of enzymes of the heme biosynthetic pathway. This pathway, like other chemical pathways in the body, is a sequence of steps leading to a final product, in... PORPHYRIAFOUNDATION.COM

#‎NationalPorphyriaAwarenessWeek‬ ‪#‎NPAW2015‬ has officially started!

‪#‎NationalPorphyriaAwarenessWeek‬‪#‎NPAW2015‬ has officially started! Today we have 100's of people coming to the Shadow Ride Kick Off Event in Pawhuska Oklahoma to enjoy a Barbeque, with live music, fun games and a time to get to know one another. Tomorrow we are Hosting a Patient Education Meeting in Oklahoma City, OK with porphyria expert, Dr. Sylvia Bottomley. The meeting will take place from 2-5 pm at the fantastic National Cowboy and Western Heritage Museum. It's time to Speak Up ~ Speak Out ~ Educate
Share your Story ~ Get Involved. Not Going The Shadow Ride Kick Off Saturday, April 11 at 10:00am in CDT Pawhuska, Oklahoma19 people are going

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