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Showing posts from November, 2016

Let's get Down on VP

Let's get to know more about VP!
What is Variegate Porphyria?VP is caused by a mutation in the enzyme protoporphyrinogen oxidase (PPOX), which is part of the pathway that produces porphyrins and heme. Acute attacks are similar to those in AIP and HCP but are unusual. A more common sign of the disease is blistering skin lesions, which are chronic in many people with VP.Acute attacks almost always start with severe pain in the abdomen but sometimes in the chest, back, or thighs, and are often accompanied by nausea, vomiting, and constipation. Heart rate and blood pressure are commonly increased. These symptoms and signs are all due to the effects of the disease on the nervous system. Confusion, convulsions, and muscular weakness, due to impairment of the nerves controlling the muscles, may lead to paralysis. An acute attack usually lasts for days or weeks. Recovery from severe paralysis is generally slow.
Who gets Variegate Porphyria?VP is especially common in South Africa in individ…

EPP Fabian family takes on Orlando FL Vacation

 As many of you know living with EPP can be tricky.  When deciding and preparing for our family trip.  We knew it would be difficult but we choose to conquer together and have a wonderful time in the Orlando Florida area.  How would we get through the Sun, was there any Shade?  To our surprise with a few calls and planning we had a wonderful family vacation.  Here are some things that we did to help make our trip enjoyable.  Hope you all enjoy!

Both of my adult children, Kevin and Katie, have EPP.  I never risked a trip to Orlando when they were younger – due to cost and risk of them having a reaction to the sun, ruining a very expensive trip.  Fortunately, we were able to go in November 2016.  It was the best trip we have ever taken together as a family.
We stayed on Universal Studio’s property at the Hard Rock Hotel.  This included 4 day passes to Universal with Fast Passes on every ride (except a couple in Harry Potter World).  The Fast Passes WERE THE BEST EVER – it allows you to go…

Porphyria News Save the Dates!

**ATTENTION ARIZONA PEOPLE**We are happy to announce that a doctor trained through our Protect the Future program to train the next generation of experts has moved to Phoenix. Porphyria expert, Dr. Danielle Nance, who is board certified in Hematology and Internal Medicine, is in private practice and is now the Director of the Hemostasis and Thrombosis Clinic at the Arizona Bleeding Disorders Health and Wellness Center (Address: 821 N 5th Avenue, Phoenix, AZ 85003).In addition to porphyria, this clinic also focuses on benign hematologic conditions, specifically hemophilia, bleeding and clotting disorders. The staff is very sensitive to the needs of chronic illness and high in-tensity medical conditions. They offer social services, wellness services, and have several great pharmacy and infusion service partners.You can make an appointment with Dr. Nance by calling (602) 680-7722. If you are able to, we encourage all porphyria patients to see an expert to manage their care. We know you w…

APF Meeting Hosted by Evelyn Jacobucci Information

APF member, Evelyn Jacobucci, will be hosting the next Patient Education Meeting on Friday, November 18, 2016 from 5:30-7:30 PM MST. You are welcome to bring your friends and family, but please be sure to RSVP to the APF or directly to Evelyn at 303-989-2073 or ejb2003@live.com.Bear Valley Church
10001 W. Jewell Avenue
Lakewood, CO 80232*Presentation about Porphyria and Q & A Session
*Meet Friends who Share Your Experiences with Porphyria
*View the Latest Educational Material from the American Porphyria Foundation

ALL USA PORPHYRIA PATIENTS Enrollment for Longitudinal Study

ALL USA Porphyria patients.
We need each of you to sign up for the studies of Porphyria. All types are able to join this study. The Porphyria Consortium are looking for volunteers now for the longitudinal study. Please read the following study opportunity: click on the below links to register and if you have any questions please contact the APF 1/866/APF/3635. If you have any questions please call the APF during normal business hours or leave a detailed message with a call back number and we will reach out to you.
Step 1) https://clinicaltrials.gov/ct2/show/NCT01561157?term=Porphyria&rank=4
Step 2) http://www.rarediseasesnetwork.org/
{Here you can join the contact registry. Once you join the RDCRN Contact Registry, you will receive emails with information about current research studies for your disease. In these emails, you will be given information about how to join the research study. You will also be able to contact the researchers to ask any questions about the study.} Plea…

Gail Hubler & AIP Story

I am Gail Hubler and I have AIP (Acute Intermittent Porphyria).

 It was dormant until I had a tetanus shot at age 53.

 I had some issues with pain through out my life but thought it was from standing too long at work and from accidents in car and falls. When I got home from the hospital my entire body had changed and I was trying for seven years to find out WHY!

 I had every test know to man and beast but found nothing wrong, thus, it's stress from your job. So I quit my job which didn't help. 

One day my neighbor found an article in the newspaper in the section where you ask a Doctor questions. This man's symptoms were just like mine and so many weird ones I thought this has to be it. My Doctor said he has only had one patient with Porphyria and he was from Wales.


 Most of my relations came from Wales.  During an attack, I was tested and found out. I have battled how to keep myself from attacks for eight years now.

I Have had to get off some of my medications and change some of…

2nd Annual "Moo've It In The Moonlight" Run

RSVP now for the 2nd Annual "Moo've It In The Moonlight" Run in Burlington, NC happening THIS SATURDAY at 6:00PM.  APF member, Shawn Willis, will be hosting this event in the evening to highlight the challenges of those with light sensitivity.  There will be a 5K AND a 1 Mile Untimed Fun Run and proceeds from the race will benefit the APF.  Don't forget to RSVP online today!!Cox Toyota3860 Danbrook RoadBurlington, NC 27215RSVP:   http://cfaraceseries.com/races/205/



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

Jason shares his Life about EPP and his new blog!

My name is Jason Barrett, and I was diagnosed with Erythropoietic Protoporphyria when I was 11 years old.

My story is similar to many others shared by those who live with EPP.  I to have become intimately acquainted with the confusion, frustration, social isolation, and pain, as well as the undeserved feelings of guilt, depression, self-doubt, fear, and shame that are so common in the lives of those touched by this rare disorder.

I have carved a good, happy life for myself around the challenges that I face. I have beautiful young children who bring me joy and just accept that Daddy wears a hat. My wife trusts and believes in me, and together we purchased a wonderful home in a lovely neighborhood. I excel at my chosen profession in the electrical field despite the difficulties associated with being a working disabled person. I love cloudy or stormy weather and the twilight hours, and I use such time to enjoy the outdoors as much as I can.

When I had each of my children, I wondered what th…