Skip to main content

Posts

Showing posts from April, 2016

APF WEEK! Thank you to everyone

To view this email as a web page, go  here.The APF would like to extend a huge THANK YOU to everyone who participated in making National Porphyria Awareness Week such a huge success this year. With your help, the APF reached over 50,000 people via social media! The APF mailed out MANY packets of brochures and other educational materials for distribution.In addition to passing out educational materials, APF members engaged in other activities to promote porphyria awareness. On the first day of Awareness Week, Louise Schlosser hosted a very successful Patient Education Meeting in California. Some members set up tables outside of businesses during peak hours to educate the public. Nicholas Guanciale set up a porphyria table at his job. One member created a porphyria flyer to pass out at her upcoming family reunion. Other members sold porphyria-related items or created posts on Facebook. Another member even planted a garden spelling out EPP in honor of Erythropoietic Protoporphyria, as yo…

APF Awareness week: Allison Linner ~ Hereditary Coproporphyria (HCP) Share

                               Allison Linner
 Hereditary Coproporphyria (HCP)
My name is Allison Linner and I am seventeen. I came into this world on a cold, rainy day in early October, but my Dad said that the moment I was born, the sun peeked through the clouds, thus my nickname, “Sunshine.”For some reason, my parents always knew there was something wrong with me.  My life was dotted with strange symptoms, including lots of pain and lots of doctors for a girl my age.  Each doctor diagnosed me with something else.  When I hit puberty, things worsened. I had terrible episodes during which I would be doubled-over in front of the toilet, wanting to be unconscious because of the pain, but unwilling because I knew if I passed out I might choke on my own vomit.  The toilet even became my pew.  I fought to stay conscious while these other things were occurring. I could feel that my heartbeat was weak and irregular. Another strange symptom was that I was extraordinarily photosensitive.   When…

APF Awareneess Story Read Share Sandra Ihring VP

Sandra Ihring
Variegate Porphyria (VP)
I come from a Central Oregon town with the population of about 1100 people. I moved back here to Central Oregon, where I was raised after 40 years of being away. I took my grandson to a local ER in Redmond, OR (population about 26,000) after an accident where he hurt his foot which needed to be checked out.  I was making small talk with him in the waiting room and told him of some new information about porphyria I had learned.  A woman in the waiting room overheard our conversation.  So, as it goes in small towns; we started talking.  She told me that she had porphyria also.She was called in to see the triage nurse but her husband remained and we visited.  I exchanged contact information with him and we briefly traded stories. She came back in the room shortly. My first question after finding out what kind of porphyria she had (AIP), I asked her how she was diagnosed; as I knew of my own 'war stories' of finally finding the correct diagnosi…

Kathryn Nelson and PCT Journey!

Kathryn NelsonMy Porphyria Cutanea Tarda (PCT) experience began roughly seven years ago. At the time I was living in Irving, Texas. When lesions appeared on my face, forearms and legs, I thought that perhaps it was related to Psoriasis, an autoimmune disorder I had since I was a child. As a result, I resorted to a fairly common approach to Psoriasis which is exposure to UV rays. I spent an hour or so every afternoon in the sun, but more lesions developed and the existing ones grew in size. Repeated visits to my Dermatologist resulted in a variety of diagnoses including eczema, hives and finally a "picking" disorder which basically meant the doctor believes you are picking at your skin causing sores and infections. His primary reason for this was that the sores appeared only where I could physically reach the area, in other words, there were no lesions on my back or the backs of my legs. I pointed out that as a forty plus year old woman, I didn't think I had suddenly sta…

What Is AIP?

Acute Intermittent Porphyria (AIP)



This is one of the hereditary hepatic porphyrias. Its inheritance is autosomal dominant. The deficient enzyme is porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMB synthase). This enzyme was formerly known as uroporphyrinogen I-synthase, and this term is still used by some clinical laboratories. A deficiency of PBGD is not sufficient by itself to produce AIP, and other activating factors must also be present. These include hormones, drugs and dietary changes. Sometimes, activating factors cannot be identified. Visit diagnosingaip.com Visit aiporphyria.com Symptoms Most people who inherit the gene for AIP never develop symptoms. However, experts recommend that all relatives of someone with AIP obtain testing, to determine who has the genetic trait and who does not. Those who test positive for the trait should be educated as to measures that will help avoid attacks. Prevention is essential to good management.
AIP manifes…

Special Interview: Justin Hamilton and his life with CEP~ Congenital Erythropoietic Porphyria

Thank you Justin for participating in this interview. (Congenital Erythropoietic Porphyria)  (CEP)) We take a close look at a day in the life of Justin’s Life with CEP, well also learn what it is and just how rare it really is.  http://www.clinuvel.com/en/skin-science/skin-conditions/rare-skin-conditions/congenital-erythropoietic-porphyria-cepSo at what age did you start experiencing problems?  What were they?  When I was first born. They noticed in the hospital my urine was a red fluorescent color. They thought it had something to do with my kidneys. 
Did anyone else in your family have a history of CEP? No 
When and how were you diagnosed?  Where? When I was 6 months old. They did blood test and cultures. I was diagnosed at the McCook, Nebraska Clinic. (Currently 150 or less reported cases)
Did they get your diagnosis right the first time?
Yes, besides thinking it was my kidneys. Mom then noticed blisters when the sun would be on me. They then did test to find out I had CEP. 
How do you…