Saturday, April 21, 2018

#PAW2018 Medical Moment ~ Acute Intermittent Porphyria


#PAW2018 

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.
Visit Isitaip.com

  Symptoms
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:
·       nausea
·       vomiting
·       constipation
·       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.

Diagnosis

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.

#PAW2018 Kim Littlewood & AIP~ She lives to tell her experience


#PAW2018 

My porphyria was diagnosed in December 2002. I was 4 week pregnant and was put on some medication (I later find out it was on the unsafe list) I asked my midwife if it was safe in pregnancy as I had been (I had been on them 5 days) getting stomach pains she assured me they were safe. The pains got worse and also I started vomiting a lot and my muscles were getting weaker. I visited my GP surgery (I could hardly walk and needed help to walk from the car into the surgery) as I felt really unwell and he took my blood. I went home and went to bed a few hours later the surgery phoned and asked me to go back down to the surgery. As I got out of bed I collapsed and started having a seizure my partner phoned for an ambulance and I was taken to hospital. Luckily for me the Dr on call at A&E had seen a case of porphyria a few months previous in another hospital and tested me. 
I was admitted to the hospital over the next few days my pain got worse in my tummy lower back and thighs and I started getting sharp pains (nerve pains) in my hands feet and legs and I couldn't stand. I was still vomiting and was getting fed by a tube. I was diagnosed with a.i.p and the Dr's then did all their research of how to treat me. By this point I couldn't hold my head up my arms up I couldn’t support myself to sit up and I couldn't speak. I had virtually lost every muscle in my body even my vocal muscles.... I stayed in hospital until May 2003 had speech therapy and physiotherapy but because I kept falling they didn't do to much with me being pregnant. I gave birth to a healthy but tiny little girl in July 2003 and that's when my intense physio started. I learnt to walk again although I still have a lot of muscle damage now as because some of my nerves died during my on going attack there was nothing to stimulate muscle growth.
 When my baby was 4 week old I and another attack and was hospitalized again. I had heamatin and glucose and was discharged after a week.... I had an attack every few months lasting between 7 -10 days (which required hospital admissions)for about 3 years and then the attacks got closer they came about every 6 week each time requiring admissions to hospital and lasing about 10-14 days. This went on for 2 years. I then had my little boy and when he was about 1 my attacks became every month. My Dr tried switching my hormones off but that didn't stop my attacks .my attacks were always quite bad and needed hospital admissions.
 I was also had a weekly infusion of heating via my Hackman line at home between admissions to try and control my attacks. This didn't work either. I was referred to a specialist professor Cox at another hospital who specialized in porphyria and he also tried his best to help me. In Dec 2010 I was admitted again and was there for 10 month as they could not control my attacks they were just getting one under control when another started. 
I had another meeting with Professor Cox in Jun 2011 and he suggested he would put me forward for as a liver transplant as I had no quality of life and I was only 31 with 2 children who needed me. So in July they had a meeting and agreed for me to go on the transplant waiting list. I was still an inpatient at this point and in Aug/Sept 2011 my porphyria worsened I went blind which was a side effect of a rare complication to porphyria where my brain was swelling and I was having constant seizures. My family was called in as they didn't think I'd make it through the night...fortunately I did after getting resuscitated about 5 times and been on life support I regained consciousness after a few days and was transferred back to Addenbrooke's Hospital where professor Cox were. Another meeting was held on Fri 8th Sept and they put me to the top of the transplant list. 
They came to me on Saturday 9th as they had found a donor but unfortunately after been prepped for theater, they decided they couldn't use the liver as it was too fatty, and I was quite young. The next night, they had another donor, and I was taken to theater and had my transplant through the night. Before I went into theater, my porphyrin levels were 565.  The day after my transplant my porphyrin levels had dropped to 2, so they were fantastic and although I had just had a major operation, I felt better than I had felt in 9 years.
 It was amazing as I was virtually pain free. I am nearly 5 years post-transplant now and have had no admissions. Yes, I will always have porphyria as it's in my genes so therefore, in all my other organs but because the liver is genetically not mine, I don't have attacks anymore as it was the liver that couldn't handle the porphyria. 
Yes I have to take medication for the rest of my life but that is the point I now have a life. It doesn't revolve around admissions. Life is great.
-Kim Littlewood 


Friday, April 20, 2018

#PAW2018 PAW April 21-28 2018 Preview





#PAW2018 

This year, each day we will bring you a member story of each type, a Medical Fact on each type, Medications approved by the FDA at this time, Research opportunities & how ALL PORPHYRIA members are spreading awareness! 


Louise Schlosser Braun I'm speaking to the Emergency Room Department and to several Interns at UCI in Orange and Irvine California. I also have a huge burden this year to reach out to hospitals that are not providing the Pan Hematin treatments. I'm finding several patients experiencing this recently. If you have any particular hospitals that you're aware of, please let me know. I'm doing mailings for those out of state and plan to visit a few locally to spread AWARENESS this year!

Porphyria Awareness Week will be held on April 21-28, 2018. We strive to dedicate this week to promote this group of rare diseases, reduce the stigma associated with porphyria through physician education, and provide support for those affected.
Porphyria Awareness Week is the time for you to bring porphyria awareness to your local communities. We, at the American Porphyria Foundation, encourage You to help raise awareness and provide accurate information about porphyria where you live. The APF will help you accomplish your own activity by providing:
·       Porphyria Brochures
·       Porphyria Fact Sheets
·       PorphyriaLive DVDs
·       Information to gain media attention
·       PowerPoint presentations,
·       Porphyria Awareness week Graphics for Print, Web, and Social media (See downloads below)
·       Press releases for local newspapers and television and Much More!
Contact Edrin at the APF office today to request information to be sent to you!
1.866.APF.3635 or email: edrinw@porphyriafoundation.org

Downloads:
U.S.: Porphyria Awareness Week complete package Includes (each packet can also be downloaded individually)
·       Print Packet
·       Web Packet
·       Email Signatures
·       Complete Package

International Porphyria Awareness Week Complete package includes (each packet can also be downloaded individually):
·       Print Packet
·       Web Packet
·       Email Signatures
·       Complete Package
​​
Fb Photo and Video Frame : Spread the Word!






Friday, April 13, 2018

Why I Am Thankful for Being 'Rare' This Rare Disease Day




I bet you never thought you would hear me say I am grateful for my rare diseases. Heck, I never thought I would ever say that. Being diagnosed with several rare diseases with no cure is life-altering and a hard concept to grasp at first. Of course, many days are filled with worry, frustration and pain. But today, I am thankful for all of the life lessons my rare diseases have taught me.
1) My rare diseases have taught me patience. Before I became sick, it seemed as if I was always in a rush. Now I realize it is important to slow down and realize life is about a journey. Enjoy this moment.
2) My rare diseases have taught me the importance of friendship. When you become sick, you truly find out who your friends are. My true friends have been there for me through every painful test, hospital admission, and surgery I have endured.
3) My rare diseases have taught me gratitude. I am thankful my rare diseases have made me realize every single breath we take on this Earth is a blessing, a gift — not a right. Don’t ever take that for granted.
4) My rare diseases have taught me about endurance. I will never stop fighting. I will never give up on my body. My body has made it through every hardship thus far. My body is undefeated against my chronic illnesses.
5) My rare diseases have taught me about optimism. One thing I always remind myself is, “It could always be worse.” And I truly mean that. I will always know in my heart that things will get better, even on the worst, most painful days.
6) My rare diseases have taught me empathy. My heart breaks for every person struggling with an illness. When I read articles and posts by other “spoonies,” I can feel in my body how awful their pain is because I have been through it. I have hope better days are coming for each one of you!
7) My rare disease have taught me the meaning of strength. This is a deep strength within myself that I never knew I had. I may not have as much physical strength as I once had before I was sick, but mentally and emotionally, I am strong and my illnesses will not break me.
8) My rare diseases have taught me unconditional love. I never thought at 24 years old I would need help with basic tasks such as walking or showering. But, sometimes I do, because that is the reality of being chronically ill. My fiance has seen me at my absolute worst — crying in pain, puking — you name it, and he has dealt with it. Never once has he ever complained about helping me. Never once has he or my parents made me feel like a burden. And that, my friends, is the definition of unconditional love.
9) My rare diseases have taught me about faith. I never have been the most religious girl, but getting sick has showed me how important faith is. Not just religion, but faith that things will get better. Faith that everything will be OK in the end.
10) My rare diseases have taught me to appreciate simplicity. I now find joy with the smallest things in life — my own bed, instead of a hospital bed, cuddling with my dog, having the energy to get up and cook a meal, and taking a shower without passing out.
So thank you, rare disease, for teaching me how to love this life.
Happy Rare Disease Day, fellow  porphyria warriors!

Wednesday, April 11, 2018

What is Erythropoietic Protoporphyria and X-Linked Protoporphyria

Erythropoietic Protoporphyria and X-Linked Protoporphyria

NORD gratefully acknowledges Manisha Balwani, MD, MS, Associate Professor, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, for assistance in the preparation of this report.

Synonyms of Erythropoietic Protoporphyria and X-Linked Protoporphyria

  • EPP
  • erythrohepatic protoporphyria
  • protoporphyria

General Discussion

Summary
Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder caused by a deficiency of the enzyme ferrochelatase (FECH), which results from changes (mutations) in the FECH gene. Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. Some patients with symptoms of EPP have a genetic change in a different gene called ALAS2. When a patient has a genetic change in this gene, the condition is referred to as X-linked protoporphyria (XLP).
The major symptoms of these disorders is severe pain on exposure to sunlight and some types of artificial light, such as fluorescent lights (phototoxicity). On sun exposure, patients may first experience tingling, itching, burning of the skin. After continued exposure to light, the skin may become red and swollen. The hands, arms, and face are the most commonly affected areas. Some people with EPP/XLP may also have complications related to liver and gallbladder function.
Introduction
Erythropoietic protoporphyria is one of a group of disorders known as the porphyrias. The porphyrias are all characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes essential to the synthesis of hemoglobin. There are at least eight types of porphyria. The symptoms associated with the various types of porphyria differ, depending upon the specific enzyme that is deficient. It is important to note that people who have one type of porphyria do not develop any of the other types.

Signs & Symptoms

The most common symptom of erythropoietic protoporphyria and X-linked protoporphyria is severe pain on sun exposure. Some patients may also be sensitive to some types of artificial light. When the skin is exposed to sun, patients first develop tingling, itching, and/or burning of the skin. These symptoms serve as warning signs as longer exposure can result in severe pain. Affected individuals may also have an abnormal accumulation of body fluid under affected areas (edema) and/or persistent redness or inflammation of the skin (erythema). In rare cases, affected areas of the skin may develop sac-like lesions (blisters) and scar if exposure to sunlight is prolonged. However, scarring and/or discoloring of the skin is uncommon and rarely severe. These affected areas of skin may become abnormally thick. The severity and degree of symptoms is different from case to case. Some patients may only be able to tolerate a few minutes of sun exposure while others may be able to tolerate longer sun exposure without symptoms. The amount of sun tolerated may also be different based on weather conditions. Symptoms are often seen during infancy; however, in some cases, it may not occur until adolescence or rarely in adulthood.
In some affected individuals, the flow of bile through the gallbladder and bile ducts (biliary system) may be interrupted (cholestasis) causing gallstones (cholelithiasis) to form. In turn, such stones can cause obstruction and/or inflammation of the gallbladder (cholecystitis). Rarely, affected individuals may also develop liver damage that, in very severe cases, may lead to liver failure requiring transplantation. As liver transplantation does not cure EPP or XLP, a bone marrow transplant following liver transplant may be necessary in some cases.
Symptoms usually start in childhood but diagnosis is often delayed since blistering is not common and, because the porphyrins are insoluble, they cannot be detected on urinanalysis. The diagnosis is made upon finding increased levels of the protoporphyrin in the plasma or red blood cells in both EPP and XLP. Genetic testing is useful to confirm the diagnosis.
Patients with EPP and XLP may also have mild anemia (low blood counts). In many cases, this may be due to low iron stores. They may also have high levels of liver enzymes on blood tests.

Causes

EPP is a rare genetic disorder caused by genetic changes in the FECH gene. The FECHgene is responsible for providing instructions for the body to create an enzyme called ferrochelatase. This enzyme is involved in a long process to make heme, a chemical that functions to transport oxygen around the body. Without enough of the enzyme, ferrochelatase, the body is not able to finish converting a heme precursor called protoporphyrin into heme, causing buildup of protoporphyrins in certain tissues in the body (i.e., the plasma, red blood cells, and the liver). These protoporphyrins also build up in the superficial blood vessels under the skin. These protoporphyrins are highly sensitive to sunlight. When they absorb sunlight, it results in a reaction which causes severe pain and inflammation resulting in symptoms of EPP.
EPP is inherited, or passed down through the generations, in an autosomal recessive manner. Everyone has two copies of the FECH gene, one inherited from the mother and one from the father. Most individuals with EPP have a different gene change on each copy of the FECH genes. On one copy, the change, called a mutation, has stopped this copy of the gene from working properly. On the other copy, there is a small change called a “low-expression allele” or a polymorphism. This alteration still affects the way the FECH gene works; it produces less ferrochelatase enzyme than normal. This small change is common in the general population, with up to 10% of Caucasians with one copy of this change. This alteration will not cause EPP by itself, and people who have the alteration on each copy of the FECH gene will NOT develop EPP. But when someone inherits the small alteration from one parent and a mutation from the other, they will develop EPP, because there will not be enough enzyme made. Most patients with EPP have the low-expression alteration on one copy of the FECH gene and a mutation on the other copy. The risk for patients with EPP to have a child who also has the condition depends on the genetic changes in their partner.
Some patients with symptoms of EPP have a genetic change in a different gene called ALAS2, a gene located on the X chromosome. When a patient has a genetic change in this gene, the condition is referred to as X-linked protoporphyria (XLP). XLP is passed down through families in an X-linked manner. Males have one X chromosome and one Y chromosome, while females have two X chromosomes.This means that males have only one copy of the ALAS2 gene and females have two copies of the ALAS2 gene. When a male has a mutation is his single copy of ALAS2, he is expected to have symptoms of XLP. In a woman with a mutation in one of her ALAS2 genes, the second functioning copy of the gene can help compensate and may lead to less severe symptoms or no symptoms at all. It is not possible to predict or control the severity of disease in females. Men with XLP pass on their X chromosome to their daughters and their Y chromosome to their sons. Therefore, a man with XLP with pass on his genetic change to all his daughters, and none of his sons. For a female with XLP, she will pass on the X chromosome with the genetic change 50% of the time. Thus, in each pregnancy, there is a 50% chance of having a child with a mutation in ALAS2.
Genetic counseling is recommended for affected individuals and their families.

Affected Populations

EPP is a very rare inherited disorder that affects males and females in equal numbers. It is estimated that the disorder occurs in about 1 in about 75,000 to 1 in 200,000 individuals in Europe. The number of patients affected by these disorders in the US is unknown. XLP accounts for about 10% of cases in the United States. It is more likely to present in males. Females with XLP may or may not have symptoms.
The onset of symptoms affecting the skin usually occurs in infancy, with an average of diagnosis at age 4; however, in some cases, onset may not occur until adolescence or rarely even adulthood.

Diagnosis

The diagnosis of EPP and XLP may be made by a thorough clinical evaluation, and specialized laboratory tests. EPP and XLP are usually diagnosed during infancy or early childhood, due to characteristic symptoms, and by testing the red blood cells (erythrocytes) for increased levels of protoporphyrin. Genetic testing is useful to confirm the diagnosis and identify if it is EPP or XLP. This information is useful for genetic counseling and testing family members as both are inherited in a different manner.

Standard Therapies

Treatment
Avoidance of sunlight will be of benefit to individuals with EPP. The use of sun protective clothing such as long sleeves, hats, and sunglasses will also benefit patients. Tanning creams which increase skin pigmentation or sunscreens which contain physical reflecting agents may be beneficial to some patients. Individuals with EPP and XLP may also benefit from window tinting or using films to cover the windows in their car or house. Before tinting or shading car windows, affected individuals should check with their local Registry of Motor Vehicles to ensure that such measures do not violate any local codes.
In EPP, a high potency form of oral beta-carotene (Lumitene, Tishcon) has been used to improve an affected individual’s tolerance of sunlight. While some patients report improvement, recent studies show that there is no data to support the benefit of this treatment.
A drug called Scenesse (afamelanotide) has been approved for the treatment of EPP in Europe. This drug is an injectable implant and works by increasing skin pigmentation which provides protection and improves sun tolerance. This drug is not available in the United States and it has not been tested in children.
When iron deficiency is present, iron supplements may be given. A drug called cholestyramine or activated charcoal maybe prescribed to interrupt the circulation of protoporphyrin through the liver and intestines in patients with liver disease.
In addition, individuals with high levels of protoporphyrin in the plasma and red blood cells should be observed closely by a physician for possible liver malfunction that could eventually lead to liver failure.
Liver transplantation has been performed as a life-saving measure in patients with EPP and XLP related liver failure. Bone marrow transplant can also be performed after liver transplant to prevent further damage to the liver.
EPP and XLP patients should take vitamin D supplements as they are likely to have low vitamin D levels since they avoid sunlight. They should also receive vaccination against hepatitis A and B to prevent other causes of liver damage.
Patients should be seen at least yearly to monitor protoporphyrin levels, anemia, liver enzymes, iron and vitamin D levels.
Other treatment is symptomatic and supportive.

Monday, April 9, 2018

Medical Moment by Desiree Lyon


Medical Moment by Desiree Lyon

MEDICAL MOMENT
WHAT ELSE CAN IT BE IF IT IS NOT ACUTE PORPHYRIA? Many of you have had negative biochemical and negative DNA results. Please note the list below of possible other diseases that ppl ,who were positive they had acute porphyrias , have discovered they had instead: of porphyria:
Thanks to Mary Schloetter who helped me put together this list of diseases !!!
These include disorders from metabolic and mitochondrial diseases: Complex Regional Pain Syndrome, paroxysmal nocturnal hemoglobinuria (Ab and back pain, dark urine, headache, shortness of breath, blood clots), Malonyl-CoA Decarboxylase (Patient is one of about 20 ppl dx'd with this, and first one dx'd genetically), Glucose-6-phosphate dehydrogenase deficiency G6PD (ab and back pain, dark urine, fatigue, dizziness, rapid heart rate, shortness of breath, and fever are triggered by even tiny amounts of soy, citrus fruit, blue dyes, or Vitamin C), MCAD/MCAS, glycogen storage diseases, Wilson's Disease, Mediterranean Fever and CPOX4 (like porphyria but MUST have mercury exposure to set it off), Mast Cell, Lyme disease with more intensive tests, Ehlers Danlos, some liver and kidney diseases and lead poisoning. It is sad also to say that there are thousands of rare metabolic diseases, so hang tight and don't let that stop you seeding a diagnosis.
Certain medications can cause the dark urine often seen in porphyria attacks, namely , anti-malarial drugs, laxatives containing sienna. And , of course the unsafe drugs that precipitate an attacks must be heeded very carefully. Check the Safe/Unsafe list on the APF website whenever you get a new prescription. dont just think the dr knows tha the drug is safe.
Many people have been prescribed an unsafe drug, so remind the drs, nurses and dentists. Even certain foods can cause the dark urine seen in acute porphyria, like fava beans aloe, rhubarb.
It is essential to find the correct diagnosis so that you have a chance to be treated or cured. Now that is not easy usually as drs may not be able to diagnose , you may not be able to find the answers.
Dont forget this good advice ' THOSE WHO KNOW THE MOST , DO THE BEST!!!!


Friday, April 6, 2018

Personal Story of Arunas Brizgys & AIP


Arunas Brizgys

Acute Intermittent Porphyria (AIP)

Greetings to all Sponsors of the “Porphyria Club:. I have just recently “joined” it. My name is Arunas Brizgys (“ah-roo-nus birz-geese”), male, nearly 55 years old, and I live in Kingwood, Texas. My “ethnicity” is Lithuanian/Baltic (i.e. east coast of the Baltic Sea, northern Europe).
My path to the “club” has been a tortuous one, as I’m sure it has been for all of you. I also have had hypertension since my mid-20s, which undoubtedly complicated things. My porphyria probably started manifesting itself about 3-4 years ago with intermittent bouts of severe gastritis. At the same time my cardiologist had me on what I now believe to be a too high a dosage of an anti-hypertensive alpha blocker. I was on a series of medications which gave me palpitations, weakness, malaise. I got to spend a night in the ER. So he changed the meds again. Within two weeks my toes started to tingle and I started getting episodes of weakness, like the flu. My cardiologist said it wasn’t the meds. So, he upped the dosage. The tingling in my toes became more intense as did the episodes of flu-like weakness, and now plus palpitations and muscle aches. So, over the 4th of July, 2003, I got to stay in the hospital for a day and a half. The doc said there was “nothing” apparently wrong with me and released me.
During the next few months, the episodes became more frequent and intense. Since my BP was still high, the cardio doc added another medication. Within 3 days I was cramping, nauseated, etc. He reduced that dosage, upped the other one! Needless to say things did not get any better. By now I was having blurred vision, light headedness, “fuzzy” brain, etc. so he changed the meds again. By now my blood test results were totally crazy: liver enzymes off the wall, sodium and potassium way down, BUN & creatinine out of whack. And now I was having a high pitched whine/hum in my head (not tinitus) and involuntary muscle spasms of the body, arms and legs, which would start just as I was falling asleep (needless to say, I didn’t get much sleep). Due to the rapid drip in my electrolytes, I had the “pleasure” of spending 3 days in ICU in January and a month later, in February, they ran all sorts of blood and urine tests. The cardio doc said it was probably a problem with ADH (anti-diuretic hormone) but those were normal. He told me to restrict fluid intake to 49 oz/day and released me. The symptoms continued.
(As an aside, I was also having “pins-and-needles” pains in my right shoulder and arm along with cramping. Three neurologists said there was really nothing wrong, maybe some minor carpal tunnel, although one said it wasn’t that, so he did an EEG and a brain MRI. “Nothing” wrong!)
By now I was totally frustrated. I haven’t worked in about three years with all these problems, but I kept hoping someone would figure this thing out! I “fired” my cardiologist and neurologist(s) and found an internist who listened. She ran a whole battery of tests and was still scratching her head. Fortunately, she reduced and/or changed a number of meds which reduced some of the problems, but the attacks/episodes kept on coming.
To cut a looooong story short….during the first week of November, 2004, I went to the Kingwood Northeast Minor Emergency Clinic for what I thought was strep throat. It turned out to be an oral yeast infection due to the antibiotics I was taking after a couple of root canals. After the yeast diagnosis the doctor asked about my skin color, kind of ruddy-reddish. He said that I didn’t appear to be Native-American. I told him it had been that way for years, and I thought it was sun damage. He looked at some of my previous records and noticed some out-of-normal things with my blood tests, asked a few questions about my current symptoms, and said, “I think you have acute intermittent porphyria”. “What?” was my response. He copied some info out of a physician’s reference book and suggested I have my internist run some specific tests. Sure enough, porphyria.
I called that doctor after the test results and thanked him profusely. He said I “made” his year! He is a certified neurologist/ophthamologist but prefers to work in urgent care.
Now I am researching everything I can about AIP. As my brother-in-law said, I will know more about porphyria than 99.9% of the doctors. I also have the resources of several doctors in my extended family, none of whom unfortunately, live anywhere near Texas, but I do have a phone/fax/e-mail.
After the diagnosis I have switched to a high complex-carb, low-moderate protein (Mediterranean) diet. Additionally, I am taking glucose tabs and as of this writing I have gone 14 days without an “attack”, which is the longest length of time in a long time.


#PAW2018 Medical Moment ~ Acute Intermittent Porphyria

#PAW2018  This is one of the hereditary hepatic porphyrias. Its inheritance is autosomal dominant. The deficient enzyme is porphobilinog...