Members & Followers

Wednesday, April 29, 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 next day, my skin gets so swollen and I just feel so lethargic and sick to my stomach.

 I have many many blisters on my hands from the sun.


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


Monday, April 27, 2015

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 molecular genetic testing, for the acute porphyrias is performed by sequencing the causative gene for the three major acute porphyrias and finding a specific pathogenic lesion on the gene, called a mutation. The technique used for DNA testing is at least 98% accurate, and patients with significantly elevated PBG are most often found to have a specific mutation.  In our experience of testing over 1000 patients with or without elevated urinary PBG, only a few cases did not have a specific mutation.   For these patients, we undertake special testing to look for gene deletions or other aberrations that would be responsible for a cryptic mutation.
During the last few years, our experience with DNA testing for the acute hepatic porphyrias has revealed certain mutations which are not pathogenic but are relatively frequent in normal individuals who do not have any acute hepatic porphyric symptoms. These are called polymorphisms and they are benign. When we recognize patients who have such polymorphisms, we continue to look further at their DNA to see if we can find a pathogenic mutation in addition. If no pathogenic mutation is found, we would have to classified or reclassify these patients as not affected. As you may be aware this has created great concern for patients who respond well to acute porphyria treatment that their treatment would be discontinued. We appreciate this concern and would like to have such patients’ physicians contact us so that we can discuss their situation, recommend additional testing to determine if their symptoms may have been misdiagnosed and institute appropriate treatment. 

Diagnosing Acute Porphyria
The acute porphyrias include Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and d-Aminolevulinic Acid Dehydratase Porphyria (ADP).
AIP is the most common of the acute porphyrias.
The most common symptoms are acute attacks of severe abdominal pain, back pain, pain in the arms and legs, nausea, vomiting, rapid heartbeat and other symptoms. These attacks generally last for several days, and can be sporadic or happen frequently (~once/month). These acute attacks are very rare in children before puberty.   These acute attacks are very rare in children before puberty. Attacks are often provoked by certain drugs, alcohol, hormones, infections, and perhaps stress. HCP and especially VP may cause blistering skin photosensitivity as well as acute attacks; AIP has no skin involvement, it is characterized just by these acute attacks.  
A diagnosis of one of the acute porphyrias is made in two ways:
  1. By biochemical testing:
    1. For AIP- a urine porphobilinogen (PBG) test during an acute attack—the urine PBG level will be very high if the symptoms are caused by an acute porphyria (greater than 5 times the normal value)
    2. For HCP and VP- a urine porphobilinogen (PBG) test during an acute attack if the patient has acute symptoms, or plasma porphyrins if the patient has skin symptoms
  2. By genetic testing looking at the genes known to cause the acute porphyrias
There are many misconceptions about the urine PBG testing, its reliability, and urine color of patients with acute porphyria. The urine sample for PBG testing needs to be protected from light; the sample should be wrapped in tin foil or placed in a brown opaque bag after collection. However, if the sample is exposed to light for a little while (a few minutes) this will not affect the results. Please follow the directions provided by the laboratory when doing this testing.
Urine PBG testing can be sent to many labs including Quest, LabCorp, Mayo, ARUP, UTMB and Mount Sinai; they all do this testing reliably.
Many patients have urine that is red/purple in color when they have an acute attack, but this is not always the case. Patients can still have elevated urine PBG levels even if their urine color is normal. These misconceptions may lead to improper testing, or misdiagnoses. Physicians who suspect a patient has an acute porphyria should call one of the expert Porphyria centers in the US to consult (http://www.rarediseasesnetwork.org/porphyrias/index.htm).

The Difference between Active and Latent Acute Porphyria
It is important to know that ~80% of people who have changes in their porphyria genes (called mutations) never have symptoms of the acute porphyrias. These people are said to have “latent acute porphyria.”
If someone has a mutation in an acute porphyria gene and reports symptoms similar to an acute attack, their urine PBG level should be checked. If the urine PBG level is normal then there is likely another cause to this person’s symptoms. Acute attacks are distinguished from other conditions that cause abdominal pain by very high PBG levels.

Treatment of Acute Porphyria
For patients with confirmed diagnoses, during acute attacks Panhematin® infusions are administered as treatment and the pain is managed with various other medications. For more information on Panhematin® please visit: http://www.aiporphyria.com/healthcare-professionals/treating-AIP/dosing
If someone who does not have a confirmed diagnosis of acute porphyria, documented by very high PBG levels, is having symptoms that seem consistent with an acute porphyria attack Panhematin® is administered at the discretion of the treating physician. Generally all other causes of abdominal pain which are much more common than acute porphyria are ruled-out first. If Panhematin® is administered and subsequently the diagnosis of acute porphyria cannot be confirmed by elevated urine PBG values or DNA testing, then it would be concluded that the “attack” is not caused by an acute porphyria. Even after Panhematin® treatment, or after an acute attack has passed, the urine PBG levels should still be elevated for several days to a week. These levels may not be as high as they were during the acute attack, but will still be elevated.
                     
                                "Remember....Research is the key to your cure!"


Thursday, April 23, 2015

~ 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 blamed for much of the mishandling of the war. In 1811, George suffered a severe relapse and subsequently was dethroned by the Prince of Wales.
After researching the physicians' reports, Drs. Ida Macalpine and Richard Hunter proposed that King George might have had one of the acute porphyrias. They published their theory in the British Medical Journal in 1966 and later wrote a book, George III and the Mad Business, which presented more detailed accounts of King George's malady. It is important to note that a number of Porphyria specialists and other physicians disagree with their theory. However, over the years it has been widely publicized.

** King George Letter **
You Can Own a Piece of History
An APF member purchased a handwritten letter by King George III from a reputable dealer in rare documents. He did this so that other APF members might have a superb replica of the letter as a keepsake.
King George might be your relative since it is now known through scientific studies that King George had porphyria, too. He sat on the English throne for sixty years.
Interestingly, some historians firmly believe that his illness so impacted the English rule of the Colonies that the powerful British troops lost the Revolutionary War.
Included in this package are:
A replica of the letter written in George's own hand which is reprinted on high quality paper similar to the original.
A transcription of the letter
A brief history of King George III and the impact of his porphyria illness on his own life and British rule.
These items are suitable for framing and are enclosed in an attractive folder.

                           "Remember....Research is the key to your cure!"
You Can Own a Piece of History • $50.00 for US residents • $60.00 for International residents An APF member purchased a handwritten letter by King George III from a reputable dealer in rare...
PORPHYRIAFOUNDATION.COM

Tuesday, April 21, 2015

Amy Chapman AIP Story Supports #NPAW

Amy Chapman

Type of Porphyria: 
Acute Intermittent Porphyria (AIP)
Amy & Craig ChapmanMy 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 follows. I would go to the doctor and receive medicine, but nothing worked. I had severe stomach pain, muscle pain, and nerve pain; I had nausea and headaches; I couldn’t remember things and was nervous; my blood pressure was high; and I had severe constipation for days into a week. At one point they gave me medication for high blood pressure, but it didn’t work.
It was terrible for my husband, my family, and me! One time, even after my diagnosis I went in to a local emergency room with my personalized ER Kit from the American Porphyria Foundation, including my diagnostic test results, contact information for the Foundation and instructions on what to do to make me feel better. I asked them to call the APF and to speak with Dr. Anderson at UTMB. But the doctors were not familiar with my diagnosis. Finally, a resident who had studied AIP a bit admitted me to the hospital.
I took it upon myself to learn from my mother and on my own so that I could educate my doctors and help them understand my disease. All these years I was taking all the wrong medications and it was making my health worse. So when I got diagnosed, I changed to all safe medications on Dr. Anderson’s instructions.
One day, my mother found a hospital in Grand Rapids, MI that was familiar with AIP. They had just learned about the disease and Panhematin therapy. When I went in that day, I could not function. My blood pressure very high, and I had pain so severe I could hardly speak or move. I was not eating and had pain in my muscles and a headache. I was nervous, had high sugar and constipation, but the staff worked so quickly and kept a close eye on me.
The Panhematin came off the plane the next morning, and Dr. Anderson spoke with the physician treating me and advised him on how to care for me. I was able to show my doctor the APF website, and he went home and read through all the information related to treating AIP. He asked me questions daily and listened and believed me. And each day I went through my own checklist to make sure of the timing of my medications. I will always speak up to remind them if something is not in place and the nurses quickly correct the issue. I walked out of the hospital feeling so much better, and smiling. I was a new person. Panhematin works so well for me!
The hospital staff held a meeting to educate the nurses and pharmacists, and they came in to speak with me on a daily basis. I learned so much. My last attack was in December 2009, and I first went to the hospital when, along with all of my usual symptoms, I developed a new one: I was paralyzed from the waist down. My husband picked me up and reassured me that I would be OK, and in six days I walked out of the infusion center feeling so much better.
I am always learning, researching and asking questions, and I truly appreciate Lundbeck, Inc. (maker of Panhematin), the Porphryia Foundation, and the doctors, nurses and pharmacists who have helped me. I also appreciate the support and patience of my family. Each person in a patient’s life plays an important part in helping them. We need to spread the word about this rare disease, and make it known in the medical field, so that all can be treated quickly and properly. In the end, effective treatment may mean saving the patient’s life.
Editor's Note: You can read more on this website about Panhematin therapy for Acute Porphyrias (includes contact information for express emergency shipping), the Porphyria Diagnostic Lab and Porphyria Center at University of Texas Medical Branch-Galveston, and the Mount Sinai Genetics and Porphyria Laboratory.
 "Remember....Research is the key to your cure!"

Monday, April 20, 2015

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.


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

Sunday, April 19, 2015

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 years later, the long forgotten pain reappeared with a vengeance. I was hospitalized and tested repeatedly to no avail. Nothing conclusive was ever indicated on the tests, so the same sad "hypochondriac" conclusion was drawn. Since I prided myself on my sense of independence and responsibility, I was taken aback by such insinuations.
From that point on, I was wary of disclosing to anyone the intensity of my pain and the severity of the other encroaching symptoms lest I subject myself again to undue embarrassment. By then I was living with a myriad of rather generic but caustic symptoms all of which waxed and waned with cyclical frequency: severe abdominal pain, extreme weakness, tachycardia, labored breathing, crushing chest pain, a mercurial disposition and a battery of frightening tiny seizures and strange, purplish urine. Over a period of time, I could no longer conceal the worsening symptoms and concluded once again that I needed to find a name for the illness that was quickly bringing my life to a close.
Fortunately, at a social gathering, Dr. George Penton, a physician friend in Montgomery, Alabama, noted the painful grimace on my face and my strange metallic grey pallor and asked if I was feeling ill. I quickly explained my present symptoms as well as the prior series of misdiagnoses which had caused my subsequent hesitation to seek any additional medical care. Dr. Penton suggested that I might consider enduring a few more tests and assured me that he would press on to an answer.

Dr. Penton repeated the myriad of examinations I had taken previously and again found all the results to be normal. Nonetheless, he did as he promised and continued to pursue a definitive diagnosis by scheduling another protracted series of diagnostic tests. The only test in the next series that proved abnormal was the encephalogram, which indicated only minor petit mal seizure activity. The report gave me some measure of contentment, because at least, I had a definable problem upon which I could blame the lengthy list of symptoms.

Dr. Penton prescribed dilantin, an anti-seizure medication, to calm the swell of flurries I felt in my head. I happily checked out of the hospital thinking that this new medication would prove to be the solution to my health crisis. Dr. Penton was not so optimistic.

Within a few hours of dismissal from the hospital, I was hallucinating and was gripped with unbearable pain. I suffered relentless terror as visions of wolves and demons uncontrollably plagued my mind. I tried desperately to communicate the anguish of my situation but only garbled babbling poured out of my mouth. The hallucinations became so ungovernable and the pain so excruciating that I began to beg the Lord to either end my dilemma immediately or translate me to heaven post haste. Despite my pleadings, there was no remission in the torment.

I knew my death was imminent when in my few lucid moments, I saw tears on the faces of my family as they bent over me and attempted to comfort me from the dreadful pain and as I heard the murmured whispers about the perilous state of my health. Little did they understand that death, at that moment, would have been a welcome relief.

As my conditioned worsened, I needed a catheter. The urine bag promptly filled with what appeared to be dark blood, not the bright red of fresh blood but rather like the color of dark dried blood on a ghastly wound. Some have described it as a port wine hue. The nurses, assuming that I was bleeding internally, ran from the room and tried to locate a doctor quickly.

As soon as Dr. Penton visually examined the sample, he suspected that the urine was colored by porphyrins not blood. If his hypothesis proved true, then it was almost certain that I had porphyria, a rare disease that had so intrigued Dr. Penton since he first studied the disease in medical school that he had watched for a case of porphyria for years and had never encountered one until mine.
Immediately, he ordered a 24-hour urine to establish the presence of a high accumulation of porphyrins and porphyrin precursors. We carefully kept the urine free from exposure to the light and made sure it was refrigerated. Upon completion of the test, the results were positive as Dr. Penton had suspected. Since further testing was needed to verify the diagnosis, Dr.Penton contacted the National Institutes of Health to perform the complicated blood tests to determine specific enzyme deficiencies that would, in turn, indicate the type of porphyria I had inherited.

While we waited for the results, my life remained on a precarious edge. Dr. Penton consulted with his colleague, Dr. Bruce Trippe, who joined him in the complex task of keeping me alive. Because certain drugs can precipitate a life-threatening attack of porphyria, both doctors were resolute in not treating my agonizing pain lest they worsen the situation. To further threaten my mortality, I developed an elevation in brain water content called "water intoxication" which also sincerely affected the central nervous system. Generally, at the level of "water intoxication" I was experiencing, convulsions, coma occur and death follows. I was, therefore, not allowed even a hint of fluid including anything as seemingly innocuous as a wet swab on my parched mouth. My thirst became as unbearable as the pain. I begged for water. I begged for pain medication. I begged to die. Most of the time, I could still only communicate my intended beggings with delirious babbling.

When the diagnosis of acute intermittent porphyria was finally established, steps were promptly taken to air-evacuate me to the National Institutes of Health (NIH), adjacent to our nation's capitol, where research was being conducted. Dr Penton's wife, Pat, who had been an intensive care nurse, donned her nurse's uniform and flew with me and my family on this most frightening journey of my young life. My only vivid memories of that trip are those of being placed by stretcher into the national guard airplane at our small Alabama airport surrounded by well-wishing friends, landing in a freezing ice storm and then being transported during that icy storm to NIH, our nations largest research facility.

Upon our arrival at the massive NIH institution, the physicians there warned my family that I was in critical condition and my chances of survival were minimal, particularly since my respiratory system was severely compromised. I was not privy to this information, so I blissfully supposed that I was now on the recovery road and could, therefore, dismiss my request to the Lord that He let me die quickly.

I was given experimental hemin infusions which brought me back to life within days. Today this treatment is commercially available as Panhematin, which was the first FDA approved orphan drug more than 25 years ago. I tell people that Panhematin may look a lot like swamp water or crank case oil, but it is PURE GOLD to me. Without it, my attacks were dreadful and often lasted many weeks. 


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

Wednesday, April 15, 2015

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 basement because that was the coolest place in the house. 
          By chance my parents after one of my reactions, my parents were talking to an acquaintance who is a dermatologist.  She diagnosed me on the spot without ever having seen me and suggested that I go to see Dr. Vincent Deleo.  I did so, and he diagnosed me, put me on Lumitene and recommended certain sunscreens.  Over time, I learned to take better care of myself and prevent reactions by reapplying copious amounts of sunscreen, wearing pants and long sleeves and avoiding sun exposure whenever possible.  Even with all those precautions, I still continued to suffer a few reactions year.
          Since I was a young kid, I have always loved baseball.  Despite my EPP, I have continued playing and have recently started coaching as well.  I wear long sleeved turtlenecks even on the hottest days of summer, and while playing baseball has caused the vast majority of my reactions, it has all been worth it. 
          Last year, I participated in the Afamelanotide trials at Mount. Sinai Hospital in New York.  That summer, I spent more time outside than ever before and yet I did experience one bad reaction. 
          Currently, I am a student at the University of Pennsylvania where I am active in my fraternity, Psi Upsilon, and play on the club baseball team, eagerly awaiting the approval ofAfamelanotide by the FDA.

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

Tuesday, April 14, 2015

#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 Johns Hopkins University Hospital 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 known each other since we were teenagers. I have always known him to be very sensitive to the sun. I have never known anyone to be so extremely “uber” sensitive to any stimuli to their skin. He can’t even test his blood glucose on his fingers because it literally hurts/burns for days afterward. I have seen time, and time again when he gets out of the shower, his skin, (especially his back) is just beat red and very hot. It’s the most bizarre thing I have ever seen!

In December of 2012, we moved to Eastern Tennessee and soon after, we started to line up Greg’s new medical team. I ordered Greg’s medical records, correlated them, and created a three ring binder book that I keep completely up-to-date. This way, his medical team has easy access to whatever records they may need. We also use the book ourselves as a learning tool so to speak.

The first new doc we met with was Greg’s neurologist. He examined the terrible scars newly occurring blisters/bumps on Greg’s hands and listened to the long history about his skin issues. He then sent Greg to a dermatologist who turned out to be one of our saving graces because she was finally able to tell us what was going on.

On Greg’s first visit with the dermatologist, a biopsy was done on the raised blisters on his hands. This came back as granuloma annulare, another rare and odd skin condition. Greg had another painful and horrific break out and went immediately to see Dr. Anderson. She did another biopsy at that time. This came back as porphyria. The doc immediately set him up for blood work and urnine/fecal testing, which confirmed his porphyria (PCT) diagnoses. As soon as I heard the word “porphyria” I immediately went online to research this as I do with every condition Greg has. Thank God I found the American Porphyria Foundation. What an amazing resource and incredible help they have been!  

Because Greg’s dermatologist had never seen PCT and granuloma annulare occur at the same time, she invited us to come to a small dermatology conference at a colleague’s office. They had several patients who where “unusual” cases that they wanted to review.  We were glad to go.

At the conference, Greg was examined by a variety of medical professionals, who seemed to be very interested in his “case”. When these professionals sat down at their round table discussion, they all agreed, they had never ever seen granuloma annulare and porphryia (PCT) occur together. Once again, we were heart broken and lost. Greg is a “zebra.”

We were sent to a few other specialists who could not come to a consensus as to how to treat Greg. Plaquenil was on the table; however, the dosage each of them wanted to prescribe was not concurrent with what the American Porphyria Foundation recommends. We reached out to porphyria experts that we were able to actually chat with and correspond via email. Unfortunately, traveling to see them was not an option.  Greg was not at all comfortable with taking the plaquenil either without a clear agreement as to the correct dosage. The rheumatologist we consulted with just seemed to compare treating a PCT patient like someone with lupus. We were hoping that we can get some clarity at some point about the proper amount that is safe and recommended for porphyria patients.

Or next consultation was with a hematologist/oncologist locally since we were not able to travel to meet with a physician who specialized in poyphyria.  The hematologist did not recommend a treatment plan for Greg’s porphyraia because he suffers from thrombocytopenia (low platelet count). When we mentioned plaquinel, the doc told us that we needed to go back to rheumatology.  I kept telling all the docs we consulted that something was WRONG with my husband and that they were missing something critical! Finally, the hematologist ordered a CT Scan of Greg’s lungs, and abdominal area. I think the doctor finally had an epiphany because of Greg’s low platelet count and other very uncomfortable and painful symptoms. Sadly, the CT scan indicated cirrhosis of the liver. I immediately contacted the American Liver foundation and requested as much information as they could provide to us.  We also learned that PCT and cirrhosis are linked. We felt that the he hematologist/oncologist suspected a liver issue that is perhaps caused by Greg’s Porphyria Cutanea Tarda.

Greg was then sent to a gastroenterologist who also specialized in liver disease; he was diagnosed with Non-Alcoholic Stage IV Cirrhosis of the Liver (NASH). The doc also did extensive blood work and an endoscopy/colonoscopy to confirm the diagnoses. Because Greg has thrombocytopenia (low platelet count) he at this time, can’t undergo a liver biopsy.

So we are left with so many questions.  This ‘bomb” was basically just dropped in our lap as the doc walked out the door saying to us ‘lose weight and stay off the carbs.” We researched the “liver diet” and certain types of carbohydrates are a major portion of a liver diet. 

Greg and I are exploring other options of care at this time. The GI doc did say that with diet and exercise, Greg’s life could be extended. We are just broken, and beyond devastated. Greg and I are having a very difficult time trying to process all that’s going on with him. At this time, this hour, this day, this minute, he does not need a liver transplant.

All of these blows just break our hearts. The problem is, with all of the “other” medical issues, his treatment options become more and more challenging and unclear. We believe that his PCT needs further investigation and a treatment plan. I feel like Greg has been tossed around like a hors-d’oeuvre tray at a cocktail party, time, and time again. We get no definitive answers Specialists we have seen all seem to have tunnel vision for the most part; at least in our experience.

As far as the PCT is concerned, we are very proactive. Greg must wear sunscreen when outdoors, long sleeve pants/shirts, along with UV wrap around hats that cover his face, ears, head, etc. He wears cotton gloves as well. We also try to check medications that are prescribed against those that are harmful to porphyria patients. I actually found a laundry rinse aide that you add to load of clothes called Sun-Guard by Rit that protects against UV Rays for up to 20 washings. It’s recommended by the Skin Cancer Foundation as well. We try to plan our outings more towards the evening hours when the sun is not so extreme and hot. I make sure Greg gets plenty of rest as well. I watch over him very carefully 24/7.


We have found these things to be helpful. Be your own advocate. Leave no stone unturned; read, research, exchange ideas and reach out to others who suffer from porphyria. There are several groups on Facebook with wonderful people to chat with. Never ever be afraid to ask questions. Keep copies of all of your medical records. We are still on this journey and we continue to learn new things. The more knowledge you have, the better your care will be.


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

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.   I stayed there five days participated in a double blind study to prove the effectiveness of the IV drug Panhematin.  I already have this treatment available in my area and take it on a routine basis.  However others are not so fortunate and the results of this study will help more people get the treatment prescribed and then covered by insurance.   Then just last week, I went back to UTMB to begin participating in a study for a new drug through Alnylam.   The study involved a physical exam and some lab work, which will be repeated twice more at six months intervals. 
All my experiences at UTMB have been positive.  Last week was no exception.  I traveled that morning and arrived at 11am to meet Dr. Anderson, Dr. Ede, and Dr. Hallberg.  Dr. Anderson is very knowledgeable and friendly and I was at ease instantly.  I met him for the first time during the Panhematin study, and he knew what I needed from the moment I walked in.  He had obviously read my medical records and understood Porphyria and understood the symptoms I was experiencing.   He was quick to give me a Panhematin treatment at the onset of an attack and never put my health in jeopardy.  This time I had a simple exam where they took my blood pressure, pulse, temperature, weight and height and then I gave a blood and urine sample.  I flew home the next day, so it was a very small time commitment.
After the research was completed, I met with Desiree Lyon.  She is one of the nicest people I have ever met.  When she speaks about the foundation and research projects, you can truly feel the dedication and commitment.  I admire her strength to cope with Acute Intermittent Porphyria herself while working so hard to help others.    I met some other staff members as well who were friendly and took me out for dinner and made me feel at home and welcome.  The next morning I had asked if I could see more of the work they do at the foundation, and I had the privilege of observing all morning until my flight that afternoon.  I was impressed by the dedication and compassion of the staff!
I know that many people may hesitate to participate in research studies.  I had reservations at first myself, and my fears were quickly put to ease.  The time commitments have been small and the process has been all positive.  I hope this article encourages you to become more involved and participate in finding a cure for Porphyria.

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

Monday, April 13, 2015

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 constantly changing the band aids on my fingers.  I even covered my arms with the tops of socks that I cut off to cover the rash.  I went back to my family doctor and he prescribed an antibiotic and a topical steroid cream.  After a couple more weeks, I called my doctor again and he decided that I needed to be seen by a dermatologist, immediately.   
The visit to the dermatologist was more intense than I had expected.  Fortunately I was being seen by a wonderful doctor by the name of Dara Spearman.  She listened to my symptoms including the strange look of my urine and then she decided she would like to take a biopsy of one of the lesions on my arm.  I asked her what she was looking for and she looked at my daughter and me and said, “I think you have a disease called: Porphyria Cutanea Tarda”.  She said it is very rare and she doesn’t see it very often.   I was told to stay out of the sun, don’t sit near windows, stay covered up and use sunscreen everyday.  I walked out of her office with a full box of sample size sunscreen wondering, what in the world is going on! She also sent me to a lab for blood, urine, and stool tests.  I was quite concerned when they said it had to be shipped off to the mayo clinic to be tested.  She also had me checked for hepatitis.  I immediately came home and started researching Porphyria, it sounded quite overwhelming, but the symptoms were matching up perfectly.  
After a week of waiting, my diagnosis was confirmed to be familial PCT.  My blood work also showed that I had had a bought with Hepatits B at one time.  My liver enzymes were also extremely high.
The hardest part of getting things rolling with treatment was having a hematologist willing to take my case.  My dermatologist told me I needed to start phlebotomy treatments as soon as possible.  Her office tried to contact a hematologist to get things started; it took over 3 weeks before a doctor finally took the case.  The first time I met with him he explained everything to me just as my dermatologist had; treatment would include phlebotomies and careful monitoring of my liver function, ect. He also admitted that he did not know a lot about the disease.  
He set me up for my first treatment that very day, and it was terrible!  My blood pressure dropped to 43/70 and I passed out and ended up getting the shakes terribly bad!  I shook uncontrollably for about 20 minutes.  They finally gave me some Dilaudid to settle me down.  I was going in for treatments every four weeks and had the same reactions each time.  Now my nurse gives me dalaudin and an IV first to calm me down.  I am only 5’ tall and weigh about 105 pounds, so I am only able to give a small amount of blood each time, maybe 4-6 ounces if I’m lucky.  About two months ago, I started developing the rash on my arms again, so my doctor has me going in every 3 weeks for the treatments.   This summer has been rough dealing with staying out of the sun, ect.  I used to love lying out by the pool, getting that great tan.  I also love gardening and working in my flower beds.  I have lost interest in a lot of those things, mainly because I know the sun is my enemy.  I have adjusted to doing my yard work in the mornings or later in the evening.  
Now, this probably sounds like a typical story for any Porphyria patient, however on top of this disease I also have multiple sclerosis, which I was diagnosed with about 4 years ago.  I only had symptoms of numbness in my face when I was diagnosed.  I was put on a medication called Rebif that I injected 3 times a week.  This medication is supposed to help slow the development of the lesions on my brain which can cause further problems with my ms.  The reason I mention the MS is because my doctor and I have come to the conclusion that the medication for the MS may have triggered the Porphyria and started to cause problems with my liver function.  Thankfully there are different options for the treatment of MS, so now I am doing a daily injection and it seems to be working quite well and doesn’t seem to be affecting my Porphyria.  I wanted to mention this situation because I do believe that I had Porphyria all of my life, however certain diseases or medications may cause it to rear its ugly head!!
I am very thankful for my family and their support.  My husband and daughter take turns going with me to my phlebotomy’s and have seen me at my worst, however they are always there to see me thru.
I am hopeful that thru my message, more people can understand how Porphyria can affect the lives of people who are living with it.  I am also hopeful that although there is no cure for this disease that more research can be done to help everyone understand and deal with it better.  No matter what type of Porphyria you have, we are all in this together and we can support and help each other – thank you to the American Porphyria Foundation for helping us all connect with each other.

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.

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

Saturday, April 11, 2015

#‎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.
https://www.facebook.com/events/745826892205498/
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.
https://www.facebook.com/events/1611698132408353/
It's time to Speak Up ~ Speak Out ~ Educate
Share your Story ~ Get Involved.