Tuesday, October 29, 2013

NEW Caretaker Support Forum....

NEW Caretaker Support Forum....

Warren Hudson, who serves on the APF Board of Directors, has agreed to head our Caretaker Support Forum for spouses or partners who help their loved one cope with porphyria.  To read more about Warrens story as a caretaker for a loved one with AIP view here.

The Caregiver Support Group strives to provide a forum to ask questions, share advice, experiences and provide a sounding board for those going through similar circumstances.

Our goal is to eventually provide multiple resources to assist caregivers in their day-to-day lives. This is your community and your input will help shape this service. Whether you are a spouse, partner, relative or friend of a porphyria patient, we want to hear from you. Contact the American Porphyria Foundation or email us at apfcaregiver@aol.com for more information.

We respectfully request that only caregivers of patients in the active process of diagnosis or with a diagnosis of a porphyria participate in this group.

8 Important Ongoing Research Projects that need your help...

The Apf is currently involved in helping recruit diagnosed Porphyria Patients of all types. We need your help to make these studies a success. Many of the studies do not require any travel, and for some of them the travel will be provided. You can read about the ongoing studies by going to the Porphyria Research Consortium section on the Rare Disease Research Networks website.

If you haven't already please join the Porphyria Registry while you are there. It only takes a few minutes and it will help more than we can express.

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

Sunday, October 27, 2013

Reminders about finding a good APF Doctor for YOU

The American Porphyria Foundation promotes comprehensive care necessary for treating individuals with Porphyria.  This section of our website offers suggestions for finding a local doctor who can manage your Porphyria, options for having your doctor consult a Porphyria specialist, and information on arranging a visit to a Porphyria clinic.
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.
For those who need a diagnosis, you may be able to obtain a consultation at Porphyria clinic. Call the APF to reach a porphyria expert at a porphyria center.  The APF office will also guide you to doctors who are not experts but are knowledgeable about porphyria. You may be asked to send your blood, urine, and stool samples for evaluation in advance of a clinic appointment.  Especially if you plan to travel for a consultation, it is a good idea to call ahead and explain that you would like to be evaluated for Porphyria so that you can be sure you have done any necessary testing in advance.  If local video conferencing facilities are available, telemedicine consultation with a Porphyria expert is also available.
Regardless of your situation, it is best to establish a good relationship with a doctor in your area.  Developing a relationship with a primary care physician takes time and can be frustrating, particularly when you have difficulty finding a doctor who will manage your care.  In this section of the website, you will also find Tips for the Doctor's Office that may help.
If you're having trouble finding a local doctor, the following organizations' doctor finder or physician referral services could be helpful.  The APF does not recommend or endorse the doctors listed through these sites.
If you would like to read about supporting programs to ensure the quality of specialists in the field of porphyria, please see our Protect Our Future campaign information.

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

Thursday, October 24, 2013

Family Involvement with the Caretaker Support Forum~Please Join

Caretaker Support Forum

New APF Caretaker Support Forum   "Please get involved with your family, you may save there life, with encouragement, understanding, knowledge, Doctors experience"~ Purple Light

Warren Hudson, who serves on the APF Board of Directors, has agreed to head our Caretaker Support Forum for spouses or partners who help their loved one cope with porphyria.  To read more about Warrens story as a caretaker for a loved one with AIP click here.

The Caregiver Support Group strives to provide a forum to ask questions, share advice, experiences and provide a sounding board for those going through similar circumstances.

Our goal is to eventually provide multiple resources to assist caregivers in their day-to-day lives. This is your community and your input will help shape this service. Whether you are a spouse, partner, relative or friend of a porphyria patient, we want to hear from you. Contact the American Porphyria Foundation or email us at apfcaregiver@aol.com for more information.

We respectfully request that only caregivers of patients in the active process of diagnosis or with a diagnosis of a porphyria participate in this group.

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

Monday, October 21, 2013

Doris Stevens Letter about VP

Doris Stevens

Type of Porphyria: 
Variegate Porphyria (VP)

Doris's Letter to Porphyria

Doris StevensFor therapy, a caring doctor had recommended I write about my illness, that I state what it has done to me and how it has affected my life and finally, what I hope will happen no matter how unrealistic. Since it took a better part of my lifetime to unravel the mysterious maladies that plagued me most of my life, it was difficult to write about it in a less compassionate form. It is important to understand when you read this that it is possible to have been born with more than one congenital anomaly. In my case, I was born with a mild Arnold Chiari Malformation which accounts for an inability to nurse, dizziness and clumsiness in infancy and adolescence. Porphyria symptoms were not present until my early to mid-teens.
I am sorry to inform you that I have never loved you. I have truly never understood you and even worse, no one else has understood you either! Starting from my earliest memories you have caused confusion and misunderstanding. You caused my parents to believe I was ill mannered at the table. Because of this I spent unspeakably cruel hours sitting at the dinner table being disciplined, eating my own regurgitated food, uncountable hours of stomach upsets, pain and tears. My mother always believed I personally rejected her since I couldn't nurse, and believed I rejected her excellent cooking efforts from the beginning of my existence. By the time I was 10, I was labeled a hypochondriac and clumsy. All this due to my dizziness, chronic mild aches and pains and chronic cramping constipation. My complaints were stonewalled. I learned to bury you. Anything was possible. I could fight you. You and my parents made me strong, the physical pain from life's normal upsets meant nothing to me. I concentrated on being the best at school, my uncontrollable mood swings hampered my social life until I conquered that too.
Occasionally throughout my adult life you would dig yourself out of your grave and I would be desperate enough to seek out Dr. Exorcist only to relive the cycle of my youth. Sometimes he would refer me to Mack the Knife, Dr. Pill Happy and Dr. Nightmare. Most of the time this proved to be a bad choice. But, this was back when I didn't realize I had a choice. I was naive enough to believe exorcism always worked and to not obey Dr. Pill Happy was unthinkable.
You taught me to dance between the rain drops. I concentrated on family, college, and a successful career. Once I passed 40, the rain storm started becoming more constant, the space between the drops became smaller and smaller. Until I reached the day when my plodding dance steps were so limited that my family could take it no longer and forcibly placed me in a wheelchair. I learned what it was like to be short and invisible. I had limited cognizance, would blank out (grand mall siezures), lose my balance, get severe flu like symptoms, severe back, shoulder, neck and all over pain and migraines, and the list goes on. I lost my business, some friends, and hold on loving life. I learned what it was like to truly wish for death. I became desperate and even more desperate while the Dr. Mack's argued over the semantics of my illness. This is where I learned that you and I had been together since birth. What a wonderful feeling to have been vindicated and to have been healed! Dr. Mack could be a good guy after all.
I cut you out of my life, but experienced the most devastating blow to discover a month after Dr. Mack's handiwork, while having a wellness celebration or farewell BBQ party about you, that you had an evil twin (according to an unsurprised Dr. Mack the Knife), yet to be named. Fortunately your twin is not identical, but is definitely a Gemini, unpredictable. He's thought to be a rarity.
I can remember the feeling of morning. A bright new day, the delicate warmth of sunshine bathing my face, the sound of birds chirping, a smell and feel of morning air through the crack in the window, the feeling of warmth and strength flowing through my body, the excitement of a whole day ahead of me to attack and enjoy life. It seems like only yesterday that I would take my nature walks with friends, challenging ourselves to exceedingly longer and longer jog-walks each day. Building a sand castle at the beach, standing in the sun watching a parade, going outdoors on a hot sunny day, an outdoor BBQ, going to a day game at the stadium, walking my dog around the block, wandering through the grocery store taking goods off the shelf, standing at the stove long enough to cook something, taking a long drive, playing chase with my little dog, the satisfaction of scrubbing a dirty rental house clean, cleaning my own house, gardening, working as I choose, doing all these things I took for granted would last my lifetime. The excitement of seeing snow on the mountains and planning a ski trip still haunts me. I will never do that again is my slogan for today. Focusing on what I can do is my personal challenge.
Now if I have slept, I wake to the feeling of burning pain everywhere I can feel my body. If I concentrate very hard I can hear a bird chirp over the loud ringing in my head, my nose is too plugged to smell my own bad breath let alone the morning breeze, and if I roll carefully off the bed I may not feel a jolt of excruciating back or leg pain. If I awake with any energy it is a blessing I savour for the few hours it may last. Sometimes I truly dread a walk from here to there. The gentle warmth of the sun has become a seering pain to me that evokes a headache, nausea, stomach pain, and more. I am almost always hot and have flashes burning up all day and night. Feeling cold is a blessing. The heat from the sun can trigger such a violent reaction that even the vision in my right eyes spasms and fails. I live with constant pain, fear of eating the wrong thing, hoping I will be able to sleep when the time comes and counting the physical things I can no longer do as a regrettably growing list. Out of the blue my heart will thump, bump and race for what seems an eternity. The head ringing often becomes loudly unbearable. I have learned to surround myself with noise to keep from going mad. Even worse is the unwanted knowledge about my body that keeps flowing in. I spent a lifetime bearing you and burying you. I spent 20 years trying to find out why these things are happening and now the why's won't stop. The list of diagnoses and pills/things I am allergic too is too long for me to remember. I usually just list the highlights on medical forms. You make me feel like a freak of nature.
Dear John, the evil twin, I want you to move out. I want to hear silence, I want to walk my dog in the sun and build a sand castle at the beach with my granddaughter. I want to hop out of bed and go grocery shopping unassisted. I want to learn to love the things I have learned to hate because of you. I want to go dancing in the evening and clean my house during the day. I want to walk ten miles on a summer day. I want to be able to eat like anyone else and not have pain, gain weight or get sick. I want to be able to toast the New Year. I don't care about my career, it is gone along with my total naivity about humanity. Most of all, I never want to have to see your friends, Dr. Exorcist, Dr. Pill Happy, Dr. Nightmare and Dr. Mack the Knife again as long as I live. I want to feel the morning!
P.S: John, I have often been asked to write about you and to attempt this had caused me to be unbearable to live with for days, but a Dear John letter was a very pleasant task.

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

Saturday, October 19, 2013

What is a Ferritin Test and why is it import to have it checked when you have Porphyria

A ferritin test measures the amount of ferritin in your blood. Ferritin is a blood cell protein that contains iron. A ferritin test helps your doctor understand how much iron your body is storing.
If a ferritin test reveals that your blood ferritin level is lower than normal, it indicates your body's iron stores are low and you have iron deficiency.
If a ferritin test shows higher than normal levels, it could indicate that you have a condition that causes your body to store too much iron. It could also point to liver disease, rheumatoid arthritis, other inflammatory conditions or hyperthyroidism. Some types of cancer also may cause your blood ferritin level to be high.
You may have a ferritin test for several reasons:
  • To diagnose a medical condition. Your doctor may suggest a ferritin test if other blood tests have shown that the level of oxygen-carrying protein in your red blood cells (hemoglobin) is low, or if the proportion of red blood cells to the fluid component in your blood (hematocrit) is low. These may indicate that you have iron deficiency anemia. A ferritin test can help confirm that diagnosis.
    A ferritin test may also be used to help diagnose conditions such as hemochromatosis, liver disease and adult Still's disease, among others.
    When used to diagnose a medical condition, a ferritin test may be done in conjunction with an iron test and a total iron-binding capacity (TIBC) and transferrin test. These tests provide additional information about how much iron is in your body.
  • To monitor a medical condition. If you've been diagnosed with a disorder that results in too much iron in your body, such as hemochromatosis or hemosiderosis, your doctor may use a ferritin test to monitor your condition and guide treatment.
  • If your blood sample is being tested only for ferritin, you can eat and drink normally before the test. If your blood sample will be used for additional tests, you may need to fast for a certain amount of time before the test. Your doctor will give you specific instructions.
  • During the ferritin test, a member of your health care team takes a sample of blood by inserting a needle into a vein in your arm. The blood sample is sent to a lab for analysis. You can return to your usual activities immediately.
  • The normal range for blood ferritin is:
    • For men, 24 to 336 nanograms per milliliter (standard units) or 24 to 336 micrograms per liter (international units)
    • For women, 11 to 307 nanograms per milliliter (standard units) or 11 to 307 micrograms per liter (international units)
    Lower than normal results
    A lower than normal ferritin level indicates that you have iron deficiency. You may also be anemic. If your ferritin level is low, your doctor will work to determine the cause.
    Higher than normal results
    A higher than normal ferritin level can be caused by:
    • Hemochromatosis — A condition that causes your body to absorb too much iron from the food you eat
    • Porphyria — A group of disorders caused by an enzyme deficiency that affects your nervous system and skin
    • Rheumatoid arthritis, adult Still's disease or another chronic inflammatory disorder
    • Liver disease
    • Hyperthyroidism
    • Type 2 diabetes
    • Leukemia
    • Hodgkin's lymphoma
    • Multiple blood transfusions
    If your ferritin level is above normal, your doctor may need to evaluate the results along with those of other tests to determine next steps.
    For specifics about what your ferritin test results mean, talk to your doctor.  Notice in the end it mentions Porphyria.  As an AIP patient myself I have it checked by my Doctor once or twice a year.  So may need it more or less depending on their circumstances so if you have questions print this out and bring to your next Doctors Visit.-Purple LIght
    “Remember…..Research is the key to your cure!”

Thursday, October 17, 2013

Important message ~ National Porphyria Registry

Important Notice...
Porphyria experts have created a National Porphyria Registry-a type of partnership between the porphyria experts and YOU as a way to share information about YOUR health and treatment.  Also, it is the best means to determine the incidence of porphyria and prove that there are enough porphyria patients who want improved health care to warrant government funding.  If we don't speak up, we will be left behind when research grants are presented.    Please join the registry!  
button-join now

Joining the Porphyria Registry is anonymous, and there is no cost to you. All data will be stored in a secure, computerized database. No personal identifying information will be given to anyone without your expressed approval.  Please note that joining the Registry is not the same action as joining the APF. 

To better understand National Registries, you can attend the following webinar on Oct 23, 2013. 

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

Wednesday, October 16, 2013

Biofeedback & Chronic Pains to Porphyria

Biofeedback is a technique you can use to learn to control your body's functions, such as your heart rate. With biofeedback, you're connected to electrical sensors that help you receive information (feedback) about your body (bio). This feedback helps you focus on making subtle changes in your body, such as relaxing certain muscles, to achieve the results you want, such as reducing pain.

Biofeedback helped me greatly when suffering daily pain and Porphyria it may help you ask your Doctor about it.

In essence, biofeedback gives you the power to use your thoughts to control your body, often to help with a health condition or physical performance. Biofeedback is often used as a relaxation technique.

Tuesday, October 15, 2013

Stress Basics

Stress basics

By Mayo Clinic staff
Stress is a normal psychological and physical reaction to the ever increasing demands of life. Surveys show that most Americans experience challenges with stress at some point during the year. In looking at the causes of stress, remember that your brain comes hard-wired with an alarm system for your protection. When your brain perceives a threat, it signals your body to release a burst of hormones to fuel your capacity for a response. This has been labeled the "fight-or-flight" response. Once the threat is gone, your body is meant to return to a normal relaxed state. Unfortunately, the nonstop stress of modern life means that your alarm system rarely shuts off.
That's why stress management is so important. Stress management gives you a range of tools to reset your alarm system. Without stress management, all too often your body is always on high alert. Over time, high levels of stress lead to serious health problems. Don't wait until stress has a negative impact on your health, relationships or quality of life. Start practicing a range of stress management techniques today.

Sunday, October 13, 2013

AIP my weekend experience as we speak

So today I thought I would blog about my experience Sat and Sunday Today.

As many of you know I have AIP.  My symptoms change just as the weather changes.  The older I get the different each "Purple People Eater Attack" gets it, it sets me back.  As of late their has been some major problems with getting medications to help me and admitting me into the hospitals even for glucose, and Panhematin.  I don't even ask for pain meds, but these problems we have been at battle again for the last 4 months.

Back to my story,

 So yesterday my day started out so slow, I was sick to my stomach I thought I was hungry so I got my food, not hungry still ate my food.  1/2 hour later in bed sick, just feeling like im going down hill fast, so I take my dogs for a walk to try to block the pain and the feeling I have.  For dinner I went old school good ole fashioned Mac & Cheese that seemed to keep me at bay.  At the same time as I was just pretending nothing was wrong more intense pain came and gone.  Watching the ALCS baseball game game 1 go Tigers!  Then won and went to bed.  My dogs were just watching me through the night and coming up to me, toss and turn, get into the fetal position and my back and legs are on fire, im hot and then its like I progress to be in a no sleep mode.  I wake up to the pain I know its there and cant ignore it, I get ready for my important meeting Sunday morning, evidently could not hold the dinner from last night down not once, twice but three times, i cant think now im in trouble.  I've called the Dr. on a Sunday and left a message with the RN there its a good hospital.  11:30 am im sitting in this meeting and it just comes from the back around the right side like someone stabbing me over and over my head hurts im shaking what do I do in front of 150 people?  I try to ignore it 1/2 later I left the meeting and ate carbs and now im writing in pain.  Do you think anyone notices that im in that much pain I want to cry it hurts so bad, but someone has the nerve and says whats your problem?  I said im not feeling well at that moment I could ring someones neck because they dont understand I dont expect them to but at that moment panic sets in.....

So I tell you my honest experience at this very moment that the pain and disease are real, there is a real need for Drs to get together and talk more out of the box about Porphyria and be aware of what needs to be done.  Do what you can to get through it and be determined to get help and quickly.  

     Im still waiting for the two hospitals call me back to get me in so what do I do in the meantime?

Have you been there, live in fear, I could get really angry but what is the point?  I do the best I can during this difficult time and pray it will pass soon.
Keep positive, stay strong endure, I know its not easy and we know what will really help us, my point is to get involved with research projects, listen learn and speak up.

Now back to resting.......................

“Remember…..Research is the key to your cure!”

Saturday, October 12, 2013

Sleeping with Sinus pain & congestion with Porphyria

Not sleeping well affects both your body and your mood, but when you have sinus pain and congestion, getting a good night’s sleep may be easier said than done.
The sinuses are empty cavities that reside within the cheekbones, around the eyes, and behind the nose. They warm, moisten, and filter air into the nasal cavity. A sinus infection or sinusitis occurs when there is swelling in the nasal sinuses and passages. You may feel symptoms like pressure around the nose, eyes or forehead, a stuffed-up nose, and thick mucus. Some people also report tooth pain with sinusitis. And if you have allergies, you are at greater risk for sinus trouble, according to The American Academy of Allergy, Asthma & Immunology.
“There are many reasons that sinus pain and congestion get worse at night. One is that allergies tend to be worse at night, and two, is that when you lie down, your nose becomes more congested,” says Jordan S. Josephson, MD, an ear, nose, and throat specialist at Lenox Hill Hospital in New York City and the author of Sinus Relief Now. But this doesn’t mean you should give up on a good night’s sleep. Instead, try these expert-approved tips to help sleep better with sinus pain and congestion:
1. Take an antihistamine before bed. If you have allergies, taking an antihistamine before bed can help control your sneezing and runny nose, Dr. Josephson says. Some antihistamines make you sleepy in addition to keeping allergy symptoms at bay, so it’s a win-win. “If you use a nasal spray for your allergies, you can try using that at night, too,” adds Satish Govindaraj, MD, an assistant professor of otolaryngology at Mount Sinai Hospital in New York City.  Check the Acute Drug Safety List First
2. Make your bedroom a pet-free zone. Allergies can make sinus pain and congestion worse. “If you have an allergy to dust mites or to pets, keep your bedroom as free from allergens as possible,” says Dr. Govindaraj. “Keep your pet out of the bedroom, and consider investing in dust-proof covers for your pillows and comforters.”
3. Prop up your head. “For congestion relief, sleep with your head elevated on a few pillows and maintain a position where your head is above your heart,” suggests Govindaraj. “This will decrease blood flow pooling in the nose.” Lying flat, by contrast, allows mucus to build up in your sinuses, where it can clog your nasal passages and disrupt sleep.
4. Skip that nightcap. You may think that a glass of wine before you turn in will help with sleep, but that is a myth — especially if you have sinus pain and congestion. “Alcohol can make you feel congested, especially wine,” says Govindaraj. “If you are prone to sinus pain or congestion, don’t drink alcohol before bed.” Alcohol can also leave you feeling dehydrated, which can aggravate sinus pain.
5. Avoid caffeine before bed. This is especially important, Josephson says. Caffeine is a stimulant that will keep you awake, so it makes sense to cut it off before 2 p.m. Also, caffeine is dehydrating, so it will make your sinus pain and congestion worse. Instead, choose water or decaffeinated and herbal teas in the afternoon and evening to quench your thirst.
6. Keep nasal passages moist. During the day, use a simple over-the-counter nasal saline spray to keep nasal passages clear, or rinse your sinuses with a neti pot. “At night, using a humidifier can help to avoid drying out the air, especially during the winter,” says Sam S. Rizk, MD, a New York City-based ear, nose, and throat doctor and facial plastic surgeon.
7. Keep your bedroom cool and dark. This is good advice for anyone with problems sleeping, including people with sinus pain. Other sleep hygiene tips from the National Sleep Foundation include maintaining a regular bed and wake time (even on weekends), using your bedroom only for sleep and sex, and avoiding any stressful activities before bed.
8. Know when to call the doctor. “If you have severe congestion and sinus pain for a week or more and have an accompanying fever, you should see an otolaryngologist [an ear, nose, and throat specialist] because it could be a sign that you have a sinus infection that requires more aggressive treatment,” Dr. Rizk says.
By following these tips, you can sleep better and get the congestion relief, but when you have sinus pain and congestion, getting a good night’s sleep may be easier said than done.

“Remember…..Research is the key to your cure!”

Wednesday, October 9, 2013

Discussing AIP with Your Family

Discussing AIP with Your Family

For many people, a diagnosis of Acute Intermittent Porphyria (AIP) brings a long journey of not knowing to
an end. But living with AIP begins another journey. Your family can be a key partner in helping you to manage
the disorder. This discussion guide was designed to help you talk about AIP with your family. Here are some
questions you may be asked and some tips for answering those questions.
What is AIP?
Explain to your family that AIP is a rare inherited disorder that involves a lack of one of the enzymes needed
to make heme. Heme is the oxygen-carrying component of red blood cells and is vital for all of the body’s
organs.1 Because it is genetic, your family members may want to think about talking with their doctors about
genetic testing. Also, let them know that many people who are predisposed to the disorder may never
experience an attack.
Why does AIP cause symptoms like pain and muscle weakness?
Your family may already be familiar with the symptoms of the attacks that characterize AIP, particularly if they
have lived with you through an attack. In fact, giving a name to the disorder that has affected you may help
them understand what you have experienced. Explain that an attack is associated with an overproduction and
abnormal buildup of chemicals called porphyrins or porphyrin precursors. These chemicals normally do not
build up in the body. How this leads to specific symptoms is not known.
What can we do?
If your family has been impacted by the symptoms you have experienced, you can empower them by allowing
them to be a part of your AIP management. Tell them about the triggers that may be associated with
attacks. This may be particularly important if members of your family smoke or if part of your family culture
includes drinking alcoholic beverages. Make sure your family understands that severe dieting or carbohydrate
restrictive diets are not advised for people with AIP, because they may stimulate the production of porphyrins.
Is there treatment for AIP?
Because AIP is a condition that can result in sporadic attacks, it is important to think of treatment as a
management plan, rather than as something to be handled solely by being given medication by your doctor.
With the help of your doctor, you may be able to identify certain triggers of attacks which you will want to
address. For example, for some people attacks can be triggered by severe dieting or carbohydrate restrictive
diets or use of some medications.

“Remember…..Research is the key to your cure!”

An amazing life journey with James Beadle and EPP

James Beadles

Type of Porphyria: 
Erythropoietic Protoporphyria (EPP)
I live life with EPP! I was diagnosed when I was six by a dermatologist named Carl Anderson who has since passed away. Up until my diagnosis, my parents had heard it all from a number of doctors. I was allergic to a medicine, or I was allergic to weed killer, to simply saying, "it is just a rash." All the while, I would scream in pain. My parents would help by placing cool clothes on me.
I live in sunny southern California in a beach town. All my friends were into surfing and sailing. The outdoors is part of life in SoCal. I did not let my EPP stop me from enjoying the outdoors— though sometimes I paid dearly. I played baseball until high school. I learned to sail. I ran in triathlons and half-marathons. I snow skied and water-skied. I played golf. All the time I endured the funny looks and mean things said about the way I looked and had to dress. I did not let it stop me. Sure, it bothered me when I was young. It hurt. However, as I got older I saw it as other people's problem, not mine. I was living my life the best way I knew how. I was not going to let EPP stop me from enjoying life.
I had a doctor once who told my parents I should move to Seattle where it was cloudy more often. He said I should learn to play chess and ping-pong—indoor sports instead of baseball and golf and sailing. My parents would hear nothing of it; they knew I was going to live my life the way I wanted to live.
I have had two liver transplants because of my EPP. The porphyrins dumped into the liver and made it cirrhotic. I had my first transplant when I was 27 years old. The liver lasted 12 years, during which I was able to continue my normal active lifestyle. I married and had two kids. Neither of my kids shows symptoms of EPP.  In fact, one wants to be a lifeguard!  Both of my children can run around on the beach all day without being burned, well, aside from basic sunburn. Their mother and I lather them with sunscreen when they go out to the beach or are playing soccer or swimming. The boys are six and eight and I am confident they do not have EPP.
My second transplant was more dramatic. I was 39, my liver and kidneys failed, and I went into a coma. I was transplanted three weeks later and subsequently spent the next eight months in UCLA Medical Center. I was on dialysis for six months after which by some miracle my kidneys began to work again. The transplant and hospitalization took a great toll on my body. I am no longer able to be as active as I was. I have neuropathy in my feet from the kidney failure and nerve damage from being in bed for so long. I am twenty pounds underweight and weak. I like to joke that I am a 42-year old living in a 92-year-old body. I still live with the EPP and who knows how long this liver will last. I take infusions of Panhematin to slow the progression of porphyrins into the liver (this is the hope anyway). The key is I am still living.
I still endure the looks from people, like the other parents at the soccer field when I watch my kids play. I do not care if they think it is odd someone wearing long pants, long sleeves and gloves on a 90-degree SoCal day. To me, they have a problem, not me. People do what they have to do to cope. I am not going to let EPP keep me from enjoying my life and enjoying watching my kids grow up. My kids understand that Dad has to be careful of the sun. They understand Dad is not as strong as he once was because of his surgery. They understand why Dad has to wear protective clothing in the pool; they are just happy that Dad is in the pool with them! Grown-ups should be so understanding.
I hope you enjoy my story and I am anxious to hear how others with EPP are LIVING, not just coping or suffering. Someday there will be a cure for this, and I plan on being around to see it!

“Remember…..Research is the key to your cure!”

Friday, October 4, 2013

Fall Time

Have a happy fall- fun- filled weekend to everyone!

“Remember…..Research is the key to your cure!”

Thursday, October 3, 2013

Porphyria and background resources


Porphyria is named from the ancient Greek word porphura, meaning purple.[1] Porphyrins are precursors of heme, a part of the hemoglobin molecule. Heme is manufactured in a multistep process. Defects of enzymes needed at various steps of heme synthesis result in distinct clinical syndromes known as porphyrias. These syndromes can be clinically classified into those predominantly involving the skin, those manifesting as disorders of the liver/nervous system, and a combination involving all 3 entities (see the image below).
Clinical classification of porphyrias. Clinical classification of porphyrias. Porphyrias can be inherited or (rarely) acquired.[2] With the exception of congenital erythropoietic porphyria (CEP), which is autosomal recessive, all other porphyrias are inherited as autosomal dominant disorders. They invariably result in accumulation and increased excretion of porphyrins and their precursors. Some porphyrias have acute presentations (acute intermittent, variegate, hereditary coproporphyria), whereas others have a chronic, relatively stable presentation (congenital, erythropoietic).[3]
King George III of England had symptoms of abdominal pain, rashes, reddish urine, and psychotic episodes that are consistent with porphyria, although the account is disputed by many.[4] During the period 1955-1959, approximately 4000 people in southeast Anatolia (Turkey) developed porphyria due to the ingestion of hexachlorobenzene (HCB), a fungicide that was added to wheat seedlings.[5]

  1. Lane N. Born to the purple: the story of porphyria. Scientific American [serial online]. December 16, 2002;Accessed September 30, 2009. Available at http://www.scientificamerican.com/article.cfm?id=born-to-the-purple-the-st.
  2. Champe PC, Harvey RA, eds. Conversion of amino acids to specialized products. Biochemistry. 2nd ed. Philadelphia, Pa: Lippincott, Williams & Wilkins; 1994:260-1.
  3. Forbes CD, Jackson WF, eds. Endocrine, metabolic and nutritional. Color Atlas and Text of Clinical Medicine. 2nd ed. Barcelona, Spain: Times Mirror International / Mosby; 1997:349.
  4. Cooper J. King George's illness -- porphyria. Queen Charlotte, 1744-1818: A Bilingual Exhibit. Available at http://people.virginia.edu/~jlc5f/charlotte/porphyria.html. Accessed February 4, 2008.
  5. Gocmen A, Peters HA, Cripps DJ, Bryan GT, Morris CR. Hexachlorobenzene episode in Turkey. Biomed Environ Sci. Mar 1989;2(1):36-43. [Medline].
  6. Poblete-Gutierrez P, Badeloe S, Wiederholt T, Merk HF, Frank J. Dual porphyrias revisited. Exp Dermatol. Sep 2006;15(9):685-91. [Medline]. [Full Text].
  7. Canavese C, Gabrielli D, Guida C, Cappellini MD. [Nephrologists and porphyrias] [Italian]. G Ital Nefrol. Jul-Aug 2002;19(4):393-412. [Medline].
  8. Doss MO, Stauch T, Gross U, et al. The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. J Inherit Metab Dis. 2004;27(4):529-36. [Medline].
  9. Hedger RW, Wehrmacher WH, French AV. Porphyria syndrome associated with diabetic nephrosclerosis and erythropoietin. Compr Ther. 2006;32(3):163-71. [Medline].

    “Remember…..Research is the key to your cure!”

Tuesday, October 1, 2013

Series: Porphyria life my Journey ~ Part 1

Choices, decisions, what medications should I take, why do I have to see the Doctor for that matter what kind of Doctor do I need to see and why?  This porphyria disease has me really worried...

      What do I say to to Doctor how do I describe what I feel.  
Do I share the emotional side of it the physical side what it does to me, I know I can do this but right now,  I'm not feeling good at all.  
 I have to face a new staff and new doctor, will they listen? will they care?  Have they ever heard of this disease?  Will they understand and listen to me.  I'm so scared, nervous and sick.

Where do I begin??????????  Has this ever happened to you?  I really would like your input I will be writing a short series weekly so that we can discuss things on this blogs.  Many of these questions we have all faced and the worries that go along with it.  

So please take some time to really think about this stage maybe it was so long ago, maybe your new with this, maybe your waiting and don't know if you have it.  I will be sharing my personal struggles, feelings and journey so far.  So please take some time to think, ask questions and contribute to this because we succeed as a group not alone.   

Please share your type, experience in this part above next week- How to pick the right doctor to care for me and why...............

Amy Chapman 39 and I have AIP
“Remember…..Research is the key to your cure!”

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhoo...