Thursday, March 15, 2018

PCT Link & Story of John Gladding and PCT

Pictures of Cutenaous Types:

John Gladding

Type of Porphyria: 
Porphyria Cutanea Tarda (PCT)
Back in late 2012, I kept getting these random, tiny blisters. When I finally said something to my primary care doctor, she looked at me and told me to quit smoking and guaranteed that the blisters will go away if I did. I should mention that the day I started going to her, she hounded me about smoking. I didn't quit smoking, but I did cut back. A few months later, I got mad at her, so she sent me to a dermatologist. I had a blister (luckily) on my finger at the time of visit. He dug it out for a biopsy and suspected I had Porphyria Cutanea Tarda (PCT). I went back 2 weeks later, and he said it was confirmed that I did have PCT. He then advised me that I was to avoid direct sunlight at all cost, told me to get some Neutrogena sunblock SPF 100+ for sensitive skin, and to invest in long sleeve t-shirts, gloves, hats, and scarves. He advised me to use the sunblock along with the "winter clothing" while I was living in Texas.  With the weather being 100° or higher on some days, it seemed to be difficult. I tried as much as I could. The blisters kept coming and increasing in size. I didn't have any health insurance at the time.
My PCP was at the HIV services in Fort Worth.  Since I was HIV+, that's where I went for HIV services. The dermatologist had told me I had very high iron, too much in my blood, and that a scheduled phlebotomy twice a month for 6-8 months would be the cure. Seems easy enough, right? He said he didn't do the phlebotomies and had gotten ahold of my PCP and she had told him that if they could get the supplies, then I could do the blood draws there, where I went for HIV services. In the meantime I quickly added private insurance coverage at the job I had. I was the 2nd shift lead caregiver/med passer/supervisor at an Alzheimer's and Dementia Assisted Living Community. A week or so later, my PCP told me they couldn't get the supplies for my phlebotomies, and I'd have to get a referral through the dermatologist. I did that, but insurance didn't cover it, which left me having to pay $250 twice a month for phlebotomies. There was absolutely no way I could have afforded that, and neither the PCP nor dermatologist put forth any effort to try and help me out or find other options. So, that left me to simply deal with it. Some time went by and things in my personal life changed, which resulted in me moving back to my home state of Michigan.
I was nervous of the HIV services here in Michigan (Lansing), because I rarely heard good things about them. However, they have been nothing but amazing. My PCP here quickly referred me to an oncologist at Sparrow Cancer Center in Lansing, MI. He instantly diagnosed me with Erythrocythemia, which is a more specific term for saying I have high red blood cell levels, and I told the oncologist that I was diagnosed with PCT in Texas. He told me that he could not diagnose me with that without first running tests or seeing a proof of diagnosis. His place was to do monthly phlebotomies, and I had told him that in Texas it was supposed to be twice a month. He said to start them monthly, for now. Meanwhile, my PCP wanted to diagnose me with Polycythemia. According to the doctors, the treatment, which would be phlebotomies, is the same for all three conditions. So I started my first phlebotomy back in June. I still wasn't happy that it was only once a month, so I demanded twice a month and the doctor agreed. So after 3 blood draws at going twice a month, my hemoglobin and red blood cell levels were HIGHER than when I had them tested in May, before the phlebotomies started. So starting tomorrow, August 1, 2015, I start phlebotomies twice a week, and they draw 450cc's, which is the amount they've been drawing all along. I should also add that I do have Hepatitis C that I acquired through a blood transfusion when I was born in 1979. I'm still a smoker and will be done by the end of the day today. Thanks for reading my short story.
~ John Gladding, PCT

Tuesday, March 13, 2018

“What I Wish I Knew”

“What I Wish I Knew”

When I was first diagnosed with Acute Intermittent Porphyria I was initially shocked.  I struggled with the news and then I pulled myself together.  I experienced many different emotions and often felt I would somehow make sense of it and get past it as soon as possible.  I wanted to power through it and get my life back again.  I closed myself off to lots of support along the way believing I shouldn’t ask for help or expose my “weaknesses.”  When I look back on it know, I realize though I am coping the best way I know how, there were so many things I wish I had known that would have made it easier for me, and probably my family and friends to. 

Knowledge is Power: What I wish I Knew
“I’m not going to talk to anyone about my Porphyria,” I said
Have you ever said that?
“Where can I Find Information”
I felt lost, scared, emotional, could my family really understand?
Did they want to understand? 
Did they believe me?  Did my Doctor even believe me?
Now that I understand what care is needed I asked myself?
Who am I going to find to Bring with ME? Do they want to go?  Will they support me.  Will they say I am crazy?
I have Never asked for Help Before!
It’s too hard trying to communicate with my family, friends with phone calls and texts while I’m so sick, why bother I asked myself?
Do I need a special group to go to?  They will think I’m nuts……
No Im just going to stay inside and sleep it off.
Is this stress, or anxiety, fear, am I going to die?

What am I going to do? Who will I turn to who will help me?
I often ask myself these things and it’s important to journal, talk to a trust friend and family member, pray, start searching and don’t stop until you get an answer good or bad, learn to be patient and kind.  Be firm when you should, be your own advocate! Teach, read, watch do all that you can so you can conquer correct your lifestyle do what you must do, so that at the end of the day you can say I have done my very best!  Don’t stop there.  Start all over when you wake up…..

Amy L Chapman
Acute Intermittent Porphyria
I will survive!

Thursday, March 8, 2018

Panhematin Patient Assistance Program

Panhematin Patient Assistance Program

If you have had problems receiving Panhematin treatment for any reason, please contact Desiree Lyon Howe, APF Executive Director, at .
Please note that there is a patient assistance program that was developed to help patients who experience issues with access to treatment and offers comprehensive assistance for insurance related issues.
Contact 1.866.209.7604 to access this program.

Below are a few problems that have been brought to our attention. We hope to help.
Some people have been admitted to the hospital expecting treatment and received none.
Some have been given only one vial instead of the usual 4.
Some have been told the treatment is too expensive to order or that it is only for very serious cases.
Some have standing orders for Panhematin and the orders were ignored.
Others have heard that Panhematin will take too long to arrive, when it can arrive within 16 hours of ordering.
Others have been told in the ER that there is nothing that can be done for their disease. 
The excuses to treat are plentiful. Please note that every attack can be serious and should be treated per the doctor. 
Please let us know your situation.

Upcoming Events
The APF Office will be closed on Monday, February 19, 2018 and will reopen for normal business hours on Tuesday, February 20, 2018.

Givosiran Trials
The phase 3 trials for Givosarin have started. The purpose of this study is to evaluate the use of this medication to prevent or reduce attacks and symptoms in those with an acute porphyria (AIP, HCP, VP, ADP). If you are interested in participating for this exciting new trial, call Edrin at the APF 713.266.9617 or 1.866.APF.3635

Contact Information
Is your contact Information up to date?
If not please give us a call @ 866-APF-3635 or Email

Tuesday, March 6, 2018

Do you really understand your Porphyria?

Hello and welcome to the American Porphyria Foundation.  Many of you are NEW to the APF! Welcome!!!  We are so happy that you are here to learn about Porphyria disorder and how really rare YOU are.

 Our information and links provided are backed by Worldwide Porphyria Experts!  There are many modern day sites and theories about Porphyria and social media groups that may offer personal help or experience.  Caution should be used when looking at information and considering the source.  Ask yourself, Who gave this information to me?  Where did I read such?  Is this a patient themselves, an advocate or a medical professional?  

The more Research and time you put into knowing more about your disease you will benefit and learn the most!  As you read and talk to different ones in the medical community be prepared by writing down in advance your questions?  
Why are you asking this question? 

 Do I personally experience this problem?  

Talk to your Dr! 

 Be brief and to the point! If your physician is not aware about Porphyria please call our office we would be most happy to send a free comprehensive Dr Kit to them.  Our number is 1/866/APF/3635.

Here are a few links to help you be more informed:

Basic Genetics

Friday, March 2, 2018

Meet Gregary Edwards with HCP

Gregary Edwards

Type of Porphyria: 
Hereditary Coproporphyria (HCP)
My name is Gregary Edwards, when I was 15 is when I noticed my first issues one morning I just could not get going, I thought I just had a bug and it would go away then I started to get electric shocks shooting all throughout my body in my muscles and my bones. I was getting so weak that I had to quit football as I could no longer keep up through the pain and weakness. I had good days and bad but I could never get back to what I was as a football player. After moving schools across country I felt better enough to go out for football again but that did not last. Things were fine for awhile but during my junior year things acted up again. The shocking came back so bad it would scare other kids in class with my jumping and jerking. It would bring tears to my eyes. One day during Trig class I zoned out and the teacher sent me to the office but I collapsed in the doorway for the first time ever. And for the first time ever I was taken to the ER. Where of course everything was normal and being just poor kid no doctor wanted to pursue anything else. I noticed that when I was the weakest I had started to have more and more abdominal pain and I would swing back and forth between severe constipation and diarrhea. My weakness was getting so weird; I seemed to be strong but my endurance was poor where it used to be high. I could start off doing anything with strength but soon I would end up shaking and trembling so bad I could no longer use the muscle. If I tried to push through it like they always say "no pain no gain", my muscles would give out completely and I potentially would loose control of them. It was like they weren't even connected to my body. Over the next ten years I would go through these bouts of getting completely out of it and back to fine again but the longer it went on the less healing I would do and would remain weak and in pain.

After I graduated college and started teaching things were better; I was less stressed but as time went on and I had to go back to school while still teaching I was only getting a few hours of sleep at night and not eating much, my symptoms came back with a vengeance. I had small fiber peripheral neuropathy diagnosed. I ended up using forearm crutches and canes to help me walk. I had MRIs of my brain that showed these holes that would come and go in size and shape and one neurologist would say it's the cause of my migraines and another said it was the beginning of a demyelinating disorder. I started having seizures. My leg weakness was so constant I started to use an electric wheelchair when I was not in tight spaces where I could have help to hold myself up. I eventually moved again to be a college professor of anatomy. I was out of the wheelchair for now and felt excited to be doing what I wanted to be doing, however I still had to finish my doctoral thesis as a result I started to ignore my health. Everything was making me nauseous and cause immediate vomiting. My abdomen was in constant pain and I ended up back in my wheelchair and was having seizures. They occurred during class so I was let go from the college. I am on federal disability now still in pain, still having seizures (as what happened yesterday when I collapsed in the doctors office had three seizures and collapsed again in the ER), still getting weak and damaging my muscles, still sick from eating certain foods I find new ones all the time. I did find out what has been the cause of my migraines and seizures though dehydration and electrolyte I'm balances both happen during an attack and both are what leads to brain damage, if it is severe enough it will cause the blood brain barrier to shrink tight in certain areas leading to the symptoms and the longer it persists the more permanent damage is caused.

Three years ago was when the term porphyria was first mentioned to me as a possible answer to my years of suffering. I always felt sick so it was hard to get the samples during the worst part of an attack, sometimes you just never knew, so it has taken multiple tests. When I first got a good result my doctor told me it seemed likely to be porphyria, but with many kinds of acute porphyria more testing was needed. At first the testing indicated probable Acute Intermittent Porphyria or AIP however further testing has just confirmed it to be Hereditary Coproporphyria or HCP. Now I need to have all my family tested, with 6 kids of varying symptoms starting, then two brothers, and my mother. Education is the best defense against the ignorance that leads to 25 years of suffering.

Wednesday, February 28, 2018

What is Rare Disease Day?

What is Rare Disease Day?


Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.The campaign targets primarily the general public 
and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.


Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some poinRare Disease Dayt in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.


Rare Disease day
Rare Disease Day events are down to hundreds of patient organisations all over the world who work on a local and national level to raise awareness for the rare disease community in their countries.
Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. We especially thank our official Rare Disease Day partners, the National Alliances. These are umbrella organisations who group together several rare disease organisations in a given country or region. Click on a logo of one of the National Alliances to go to their website.


The campaign started as a European event and has progressively become a world phenomenon, with the USA joining in 2009 and participation in 94 countries all over the world in 2017. Hundreds of cities continue to take part in Rare Disease Day and we hope even more will join in 2018.
Rare Disease Day
Some countries have decided to raise rare disease awareness further, for example, Spain declared 2013 as the National Year for Rare Diseases.


Rare Disease DayThe first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, a month known for having a ‘rare’ number of days.

On you can find information about the thousands of events happening around the world on the last day of February. If you are planning an event, register your event details on the Post your Event page to get your event listed on the site!

Monday, February 26, 2018

Porphyria & APF

Is porphyria genetic?
Porphyria is a genetic disorder that is caused by an abnormality in the heme production process, which results in an accumulation of heme precursors.
Is porphyria hereditary?
acute intermittent porphyria (AIP) a hereditary, autosomal dominant, form of hepatic porphyria manifested by recurrent attacks of abdominal pain, gastrointestinal dysfunction, and neurologic disturbances, and by excessive amounts of δ-aminolevulinic acid and porphobilinogen in the urine; it is due to an abnormality of pyrrole metabolism.
Which doctors treat porphyria?
Because Porphyria is so rare, few physicians have experience treating patients with the disease. Most patients are in fact treated But the APF can help by putting your doctor's office in touch with a Porphyria specialist who can offer guidance on your care.

Please give us a call today if you need a comprehensive Physician Packet.  Would you like to know the facts about the types?
Do you need to find a physician or an expert near you.  When you contact the APF ask for Edrin.
Do you want to know how to get the free DNA?  Call APF!
Does your physician have questions?  Call the APF we can put them in touch with an Expert Porphyria Specialist!!
Want to know how to get involved with Research give us call!!!
ITS ALL FREE.  What are you waiting for?  1/866/APF/3635

PCT Link & Story of John Gladding and PCT

Pictures of Cutenaous Types: John Gladding Type of Porphyria:  P...