Tuesday, April 26, 2016
Sunday, April 24, 2016
Hereditary Coproporphyria (HCP)
My name is Allison Linner and I am seventeen. I came into this world on a cold, rainy day in early October, but my Dad said that the moment I was born, the sun peeked through the clouds, thus my nickname, “Sunshine.”
For some reason, my parents always knew there was something wrong with me. My life was dotted with strange symptoms, including lots of pain and lots of doctors for a girl my age. Each doctor diagnosed me with something else. When I hit puberty, things worsened. I had terrible episodes during which I would be doubled-over in front of the toilet, wanting to be unconscious because of the pain, but unwilling because I knew if I passed out I might choke on my own vomit. The toilet even became my pew. I fought to stay conscious while these other things were occurring. I could feel that my heartbeat was weak and irregular. Another strange symptom was that I was extraordinarily photosensitive. When ill, I would lie on my bed with my eyes shut, a wet washcloth over my eyes, the blinds closed tight, and I would still be irritated by light. This is one reason I thought I was just nuts. I even had times when I experienced paranoia and hallucinations. I would cry and pray hard. I wondered how my nickname could ever be Sunshine.
One of my most recent episodes was very hard. It was this past summer, and I decided to be the chaperone at an outdoor pool party my sister was attending. When I got out of the pool, one mom touched my face and said: “Oh my Gosh...you’re so pale.” I responded “Yeah, I get that a lot.” When we got back in the pool, I suddenly felt very ill and with God’s help I was able to get home and then get to the doctor.
I questioned him, “In your professional opinion, do you think these symptoms that all of my different doctors have diagnosed over the years, are intertwined in some way?” He said, “No, there is no such disease that has all of your symptoms.” But there had to be , I thought.” I knew in my heart that each symptom was a puzzle piece and I realized that my family and I would have to play large roles in putting it together.
One day, my Dad and I talked a lot about what was happening. He promised me that I would find out what was wrong with me, and what was wrong with us, since we shared similar symptoms. At the end of our discussion, he jokingly said that maybe because we were so sensitive to light, we were vampires. He also said that there actually was a disease on which the legends were most likely founded. I thought I'd look it up, just for fun. Reading the list of symptoms was like reading the story of my life. It was actually a very spiritual experience, it felt like reading the scriptures. A few days later, I went to the doctor and asked him if he could order the tests. He said “Sure, why not?” While waiting on the obscure test results, I performed at home the '24-hour urine test.' Within a few hours, my urine was a deep purple-red hue. A few short days later, the tests came back positive for Hereditary Coproporphyria (HCP.)
This is a hard disease to have, there is no doubt about it. I know what pain is. But every day, I thank our Father in Heaven that I finally know what ails me; and that I’m not crazy. I’ve learned to cope with it daily. When I do have flare-ups that is probably when I’m closer to God than any other time. It is so humbling. I am actually grateful for my disease because it does so much to compel me to be a better person.
When I turned 17 on October 10, my family gave me a card that has a cartoon sun smiling on it and it reads: “Happy, Bright, and Lots of Fun.” Inside, each member of my family wrote a little note to me. In my Dad’s message he wrote, “You don’t need the sun because you carry so much light inside you wherever you go.” I guess I’m still Sunshine after all.
Did you Know:
HCP is similar to AIP, but the symptoms are typically milder. HCP is caused by a deficiency of coproporphyrinogen oxidase due to mutations in a gene by the same name at 3q12. The greatest difference between HCP and AIP is that people with HCP may have some skin sensitivity to sunlight. However, extensive damage to the skin is rarely seen.
Saturday, April 23, 2016
Variegate Porphyria (VP)
I come from a Central Oregon town with the population of about 1100 people. I moved back here to Central Oregon, where I was raised after 40 years of being away. I took my grandson to a local ER in Redmond, OR (population about 26,000) after an accident where he hurt his foot which needed to be checked out. I was making small talk with him in the waiting room and told him of some new information about porphyria I had learned. A woman in the waiting room overheard our conversation. So, as it goes in small towns; we started talking. She told me that she had porphyria also.
She was called in to see the triage nurse but her husband remained and we visited. I exchanged contact information with him and we briefly traded stories. She came back in the room shortly. My first question after finding out what kind of porphyria she had (AIP), I asked her how she was diagnosed; as I knew of my own 'war stories' of finally finding the correct diagnosis.
Her story was similar to mine and other porphyria patients, being brushed off by many regular doctors who do/did not understand the cluster of symptoms or level of pain involved during a porphyria attack. If your symptoms don't exactly fit a text book illness model then it is all in your head been-there-done-that. I was diagnosed about a year ago after several Oregon doctors turned their back on me not wanting to deal with the local medical political climate. The few who didn't turn me away hung in there with me and saved my life.
My new friend (from the ER waiting room) was diagnosed about 14 to 16 years ago in Eugene, Oregon. She was deathly ill, hospitalized and was first diagnosed with Guillain-Barre syndrome, yet they still did not know exactly what was going on with her. Her doctors were all puzzled.
She had one doctor who used her personal three days off from work researching the internet on her behalf and wondered if she might have porphyria. This doctor did the porphyria testing and sure enough she nailed the correct diagnosis of AIP. Those kind of doctors are few and far between.
What I find amazing about our chance encounter in the local ER waiting room was that we both found out we were afflicted with this very rare disease in a sparsely populated area. One of us being among only approximately 1 in 100,000 porphyria patients affected in the US. It makes our chance meeting even more amazing...
My personal take on just how rare porphyria is: there are probably more porphyria patients out there that could be identified if our doctors had more exposure in their training about the disease; and lab technicians were trained to collect the specimens and process the samples correctly.
That is my nickel's worth...
That is my nickel's worth...
If you have questions regarding testing, symptoms and treatment used for the Acute Porphyrias please visit: porphyriafoundation.org
"Remember....Research is the key to your cure!"
"Remember....Research is the key to your cure!"
Friday, April 22, 2016
My Porphyria Cutanea Tarda (PCT) experience began roughly seven years ago. At the time I was living in Irving, Texas. When lesions appeared on my face, forearms and legs, I thought that perhaps it was related to Psoriasis, an autoimmune disorder I had since I was a child. As a result, I resorted to a fairly common approach to Psoriasis which is exposure to UV rays. I spent an hour or so every afternoon in the sun, but more lesions developed and the existing ones grew in size. Repeated visits to my Dermatologist resulted in a variety of diagnoses including eczema, hives and finally a "picking" disorder which basically meant the doctor believes you are picking at your skin causing sores and infections. His primary reason for this was that the sores appeared only where I could physically reach the area, in other words, there were no lesions on my back or the backs of my legs. I pointed out that as a forty plus year old woman, I didn't think I had suddenly started to pick my skin but he was not deterred.
I continued to use antibiotic ointments on the most severe patches and, as a result of other health concerns, discontinued my efforts to get a daily dose of UV rays. Over time, the lesions began to shrink but a new symptom developed. My skin darkened dramatically in areas where there were no blisters and where the blisters had healed, the skin turned white, giving the appearance of vitiligo. I was seeing a Rheumatologist for other autoimmune symptoms and he suggested I visit a dermatologist he knew who specialized in autoimmune skin disorders. He also prescribed Plaquenel to treat lupus-like symptoms tied to an undifferentiated connective tissue disorder.
It was several months later when I met with Dr. Melissa Costner in Dallas. By that time, most of the lesions and blisters were healed, however, the splotchy dark patches and scarred white areas covered most of my arms, face and large portions of my legs. I described my experiences over the previous three years. Dr. Costner listened closely and then said she wanted to do some blood work. Three weeks later, I returned to her office where she explained I had a familial type of PCT. In one minute, all of the heartaches of the previous four years made sense. She listened to me, something the previous doctors failed to do. She believed me when I said I wasn't "picking" my skin and said that rather than affecting areas where I "could reach," PCT was actually affecting areas being exposed to the sun. By reducing the time I was spending in the sun due to my energy issues, I had actually started the PCT healing process.
Today I still have very dark patches on my skin and very white scars but I have few reoccurrences of PCT. I play close attention to the medications I take, particularly since I have other auto-immune disorders which require a heavy regimen of treatment. PCT was not something I had ever heard of and was honestly not my biggest health concern at the time. But finding a doctor who listened gave me a sense of empowerment that I continue rely on today in all aspects of my health and with all my doctors.
"Remember....Research is the key to your cure!"
Acute Intermittent Porphyria (AIP)
This is one of the hereditary hepatic porphyrias. Its inheritance is autosomal dominant. The deficient enzyme is porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMB synthase). This enzyme was formerly known as uroporphyrinogen I-synthase, and this term is still used by some clinical laboratories. A deficiency of PBGD is not sufficient by itself to produce AIP, and other activating factors must also be present. These include hormones, drugs and dietary changes. Sometimes, activating factors cannot be identified.
Most people who inherit the gene for AIP never develop symptoms. However, experts recommend that all relatives of someone with AIP obtain testing, to determine who has the genetic trait and who does not. Those who test positive for the trait should be educated as to measures that will help avoid attacks. Prevention is essential to good management.
AIP manifests after puberty, especially in women (due to hormonal influences). Symptoms usually come as discrete attacks that develop over two or more days. Abdominal pain, which is associated with nausea, can be severe and occurs in most cases.
Other symptoms may include:
- pain in the back, arms and legs
- muscle weakness (due to effects on nerves supplying the muscles)
- urinary retention
- palpitation (due to a rapid heart rate and often accompanied by increased blood pressure)
- confusion, hallucinations and seizures
Sometimes the level of salt (sodium and chloride) in the blood decreases markedly and contributes to some of these symptoms. The skin is not affected.
Because this disease is rare and can mimic a host of other more common conditions, its presence is often not suspected. On the other hand, the diagnosis of AIP and other types of porphyria is sometimes made incorrectly in patients who do not have porphyria at all, particularly if laboratory tests are improperly done or misinterpreted. The finding of increased levels of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine establishes that one of the acute porphyrias is present. If PBGD is deficient in normal red blood cells, the diagnosis of AIP is established. However, measuring PBGD in red blood cells should not be relied upon by itself to exclude AIP in a sick patient, because the enzyme is not deficient in red blood cells of all AIP patients.
If it is known that someone in a family has AIP, and their enzyme value is low in red blood cells, other family members who have inherited a deficiency of PBGD can be identified by measuring the enzyme in their red blood cells. Latent cases so identified can avoid agents known to cause attacks. However, in some AIP families, PBGD is normal in red blood cells and is deficient only in the liver and other tissues. Falsely low values sometimes occur due to problems with collecting and transporting the sample.
DNA is the material in cells that encodes all the genetic information of an individual. Many different mutations have been identified in the portion of DNA that comprises the gene for PBGD. However, within a given family, everyone has the same mutation. When that mutation is known for one member, screening of the relatives is straightforward and can be done on DNA from saliva (spit) or a swab of the inside of the cheek. This is now the gold standard of diagnosis and is available through specialty labs. Details are available from the APF or investigators of the national Porphyria Consortium http://rarediseasesnetwork.epi.usf.edu/porphyrias/index.htm.
Treatment and Prognosis
Hospitalization is often necessary for acute attacks, particularly if nausea and vomiting have prevented adequate oral intake. Medications for pain, nausea and vomiting, IV hydration, and close observation are generally required.
Glucose and other carbohydrates can help suppress disease activity, are given by vein or by mouth, and are part of initial treatment. Intravenous heme, however, is both more specific and effective than glucose and should be started if the patient’s symptoms fail to improve within 36 hours. Heme is sold as Panhematin®, from Recordati Rare Diseases. Most hospitals do not stock it. Therefore the pharmacy must be notified at the time the patient’s admission to initiate a request for air-freighting enough medication for 5 days of treatment. Generally, shipping will take at least 24 hours.
Panhematin, is the only commercially available form of heme for treatment and prevention of acute porphyric attacks in the United States. Heme arginate, which is marketed in other countries as Normosang® (Orphan Europe), is another preparation for intravenous administration. The main side-effect of Panhematin® is irritation of the vein used for infusion (phlebitis). This is avoided by slow infusion through a large caliber vein or central line. Adding human albumin to the heme solution also may reduce the risk of phlebitis. (Directions for preparing Panhematin® in this manner can be obtained from porphyria specialist and is included in the Primary Care Physician/Emergency Room Kit.) Heme therapy is indicated only if an acute attack of porphyria is proven by a marked increase in urine PBG. It may be useful also as preventive therapy for people with frequent recurrent attacks.
During treatment of an attack, attention should be given to salt and water balance. Harmful drugs should be stopped. These include barbiturates, sulfonamides, and many others (see the Acute Porphyria Drug Database). Attacks are often precipitated by low intake of carbohydrates and calories in an attempt to lose weight. Thus dietary counseling is very important (see below). Premenstrual attacks often resolve quickly with the onset of menses; hormone manipulations may prevent such attacks.
AIP is particularly dangerous if the diagnosis has not been made and if harmful drugs are administered. The prognosis is usually good if the disease is recognized and if treatment and preventive measures are begun before severe nerve damage has occurred. Although symptoms usually resolve after an attack, some patients develop chronic pain. Nerve damage and associated muscle weakness can improve over a period of months or longer after a severe attack. Mental symptoms may occur during attacks, but are usually not chronic.
Wearing a Medic Alert bracelet is advisable for patients who have had attacks. People who are asymptomatic carriers of the genetic trait may choose not to wear a bracelet but should be prepared in any medical encounter to advise their care-givers of medications that are risky in AIP. It should be remembered that AIP patients can develop other diseases, and symptoms will not always be due to porphyria.
AIP patients prone to attacks should eat a normal or high carbohydrate diet and should not greatly restrict their intakes of carbohydrate and calories, even for short periods of time. If weight loss is desired, it is advisable to consult a physician, who may request that a dietitian estimate an individual's normal caloric intake, which varies greatly from one person to another. It may be appropriate to prescribe a diet that is approximately 10% below the normal level of calories for the patient. This should result in a gradual weight loss and usually will not cause an attack of porphyria. (Please see the Diet and Nutrition section of our website for more information)
Pregnancy is tolerated much better than was formerly believed. Offspring have a 50% chance of inheriting the gene for AIP, but the great majority of them remain "latent" for all or most of their lifetimes. The minority that eventually have symptoms usually benefit from treatment. Given these considerations, most patients or individuals with "latent" porphyria elect to have children for the same reasons as anyone else.
For more information please see the Healthcare Professionals area of our site.
Thursday, April 21, 2016
Thank you Justin for participating in this interview. (Congenital Erythropoietic Porphyria) (CEP))
We take a close look at a day in the life of Justin’s Life with CEP, well also learn what it is and just how rare it really is. http://www.clinuvel.com/en/skin-science/skin-conditions/rare-skin-conditions/congenital-erythropoietic-porphyria-cep
When I was first born. They noticed in the hospital my urine was a red fluorescent color. They thought it had something to do with my kidneys.
Did anyone else in your family have a history of CEP? No
When and how were you diagnosed? Where? When I was 6 months old. They did blood test and cultures. I was diagnosed at the McCook, Nebraska Clinic. (Currently 150 or less reported cases)
Did they get your diagnosis right the first time?
Yes, besides thinking it was my kidneys. Mom then noticed blisters when the sun would be on me. They then did test to find out I had CEP.
Yes, besides thinking it was my kidneys. Mom then noticed blisters when the sun would be on me. They then did test to find out I had CEP.
How do you feel about having CEP the ups and downs? CEP sucks, I wouldn't wish it on my worst enemy if I had one. The ups to CEP there are not really any at all, other than that it gives you a look at life to strive to be positive, making you a fighter for the things that most people take for granted. The downs are endless and new every day. The fact that you are unable to go outside without being all covered up and drenched in sunscreen. The pain and the scarring that happens from any tiny bit of exposure. Not being able to be "normal" like others that can run around outside and soak up the sun. Growing up and living with CEP people staring at you and giving you mean looks because they are not aware of what really is going on. There are times that I’m down and stressful times. Trying to cope with all that is thrown at you is a daily struggle.
What are your symptoms? How have you managed your symptoms? Symptoms are any exposure to the sun or certain lights I get blisters, some big some small. All very painful, and then after they pop they take weeks to heal. Then when they do heal they leave scars that limit normal skin growth. Pain becomes a normal thing that I become used too and just pray it helps fast each time. Trying to manage it is just lots of sunscreen and coverage when in the sun. I believe everything happens for a reason. So I just take what the good lord gave me and make the best of it.
Have you learned anything from having a rare disease?
CEP HSS taught me to take this disease seriously. I wish I would of been more protected when I was younger age and not been so stubborn when putting on sunscreen, long sleeved shirts, hats and so on. I seem to learn something new every day.
How have your Doctor’s treated you in the past and present?
They have treated me with antibiotics for infections from my sores. They have had me use steroid creams for my sores. Really that about it. This disease did attack one of my eyes. Which I now don't have much vision left in. Also caused a small hole in that eye. I see an eye specialist regularly. They put glue in the hole and a contact over to keep it stable. My doctors have been supportive and helpful with everything that comes with it.
What are your future goals? Hobbies that you enjoy?
My goals in life are to live as long as I can be watching my Kid’s growing up and spending time with my wife. I try to stay as covered as possible. And take each day like it was my last. I enjoy the outdoors which is hard since that is where I get most of my exposure from. But I live raising crops, animals, hunting, and fishing. My love for race cars keeps me going.
Do you work and what do you do?
In try to keep busy. Working hard is always been a big part of my family's way of life. I try my best to continue to help family and friends with what I am limited too. I try to help at the farm or the family car dealership when I can.
Are you Married & do you have children & how has this impacted you in any way?
I am happily married since 2011, since then we have two beautiful children. A boy Brayden who is 2 1/2 and a girl Brylee who is 1 1/2. They are my reason for living. I love then so much. There are some thing that limit me to my husband and father duties. With my hand’s being so small and sore (my hands are ½ the size of a normal persons due to the severe scaring) it’s hard for me to change diapers, simple stuff like that. I can't play with them outside on a nice day for a very long period of time like I would like to be able too.
If Holly would like to comment, how do you feel about Justin as a husband and father and how does he handle the CEP daily? He is an amazing husband and an even more amazing dad. There are some things that limit him. But we are aright with that. I understand and try to help him in every way possible to make things easier on him. He has good days and bad days. He does not shoe to anyone else how much pain he might be in. But when it is just the two of us he is able to open up some more. He is a very positive attitude about it all. Some days he may be in enough pain he stays in bed all day. But the next he is ready to go. The kids and I love him so much.
What encouragement would you give to others that have CEP and why raise awareness?
All I can say is words of encouragement. Don't take life for granted. Take your disease seriously and take the needed precautions no matter how much it sucks. Keep positive and have faith. There will be good and bad days but how you react to it is your choice. So stay positive and live life to the fullest. It is very important to spread awareness so that other’s may understand. The more people and doctors that know more about it they can understand to make it easier on me and ways to help.
If the APF has helped you at any given point, how have they helped you?
The APF has helped out greatly. The thing I like the most is it brings all fellow porphyrian’s together to tell their stories and help one another to make this disease better to live with. In am very thankful and blessed even with CEP.
Thank you Justin for sharing your life with CEP! Holly Thank you for raising awareness and your support to your husband and to the American Porphyria Foundation. For a description of CEP please read below also you can learn more information by contact the APF~ 1-866-APF-3635 or visit porphyriafoundation.org
Here are the facts of: Congenital erythropoietic porphyria, or CEP, is an extremely rare, inherited metabolic disorder. It is caused by genetic defects which lead to deficiency of the enzyme uroporphyrinogen III cosynthase (UROS). The disease is characterized by extreme photosensitivity (abnormal cutaneous reaction to sunlight) which can leave severe scarring, blister formation and the loss of digits or other features. Damaged skin can become infected, leading to further necrosis and deformities. The face, hands and arms are the most significantly affected as they are frequently exposed; sometimes presenting as severe disfiguration.
Figure 1. The Heme Biosynthetic Pathway, illustrating the defect in CEP
· Blistering and rashes on light-exposed skin
· Increased skin fragility
· Skin destruction and erosion
· Abnormal hair growth (hypertrichosis/hirsutism)
· Loss of eyebrows and eyelashes
· Mutilation of cartilage structures, such as the ears and nose
· Loss of digits and facial features
· Bacterial infection of damaged skin, possibly leading to further necrosis and deformation
Blood and other tissues
· Anemia due to the breakdown of red blood cells
· Excessive red blood cell production (erythrocyte hyperplasia)
· Bone loss, fragility or hardening
· Enlarged spleen (splenomegaly)
· Brown, pink or red discoloration in urine, due to the presence of porphyrins
· Teeth stained red (erythrodontia), also due to accumulation of porphyrins
· Ocular (eye) lesions
· Brownish color to the amniotic fluid
· Accumulation of fluid in the fetus whilst still in utero (hydrops fetalis)
· History of patient symptoms
· Quantitative screening using spectrophotometry or fluorimetry is considered the most accurate method of diagnosis. When uroporphyrin I and coporphyrin I are present in blood a plasma spectrofluorimetry is seen at 615-620 nm.
· Measurement of elevated levels of uroporphyrin I and coproporphyrin I in blood, urine or fecal analyses
· Examination of the eyes or urine using a Wood’s lamp
· American Porphyria Foundation, n.d, Congenital Erythropoietic Porphyria (CEP), accessed 23rd August 2010, <http://porphyriafoundation.com/about-porphyria/types-of-porphyria/CEP>.
· Canadian Association for Porphyria, n.d, Congenital Erythropoietic Porphyria, accessed 23rd August 2010, (no longer online).
· Hebel, J.L, 2009, Congenital Erythropoietic Porphyria: Treatment & Medication, eMedicine Specialties, accessed 23rd August 2010, <http://emedicine.medscape.com/article/1103274-treatment>.
· Hift, R.J, Meissner, P.N & Kirsch, R.E, 1993, ‘The effect of oral activated charcoal on the course of congenital erythropoietic porphyria’, The British Journal of Dermatology, 129(1):14-17.
· National Organization for Rare Disorders, 2008, Porphyria, Congenital Erythropoietic, accessed 22nd December 2015,<https://rarediseases.org/rare-diseases/porphyria-congenital-erythropoietic/>.
· Singh, D.K & Rai, R, 2008, ‘Congenital Erythropoietic Porphyria’, Indian Pediatrics, 45:865.
· Wiederholt, T, 2006, ‘Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria’, Physiological Research, 55(suppl. 2):S85-S92.
· GeneBennett.net - A working biography of Gene Bennett and his life experiences with CEP
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