Tuesday, June 27, 2017

Here is one to print and share with your Doctors Overview from: Herbert L. Bonkovsky, M.D., Carolinas Health Care System

Porphyria

What are porphyrias?

Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cells—red blood cells, white blood cells, and platelets.
The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness.

What is heme and what does it do?

Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that break down hormones, medications, and other chemicals and keep liver cells functioning normally. Heme is an important part of nearly every cell in the body.

What are the types of porphyria?

Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway. Experts often classify porphyrias as acute or cutaneous based on the symptoms a person experiences:
  • Acute porphyrias affect the nervous system. They occur rapidly and last only a short time.
  • Cutaneous porphyrias affect the skin.
Two types of acute porphyrias, hereditary coproporphyria and variegate porphyria, can also have cutaneous symptoms.
Experts also classify porphyrias as erythropoietic or hepatic:
  • In erythropoietic porphyrias, the body overproduces porphyrins, mainly in the bone marrow.
  • In hepatic porphyrias, the body overproduces porphyrins and porphyrin precursors, mainly in the liver.
Table 1 lists each type of porphyria, the deficient enzyme responsible for the disorder, and the main location of porphyrin buildup.
Table 1. Types of porphyria
Type of PorphyriaDeficient Enzyme
delta-aminolevulinate-dehydratase deficiency porphyriadelta-aminolevulinic acid dehydratase
acute intermittent porphyriaporphobilinogen deaminase
hereditary coproporphyriacoproporphyrinogen oxidase
variegate porphyriaprotoporphyrinogen oxidase
congenital erythropoietic porphyriauroporphyrinogen III cosynthase
porphyria cutanea tardauroporphyrinogen decarboxylase (~75% deficiency)
hepatoerythropoietic porphyriauroporphyrinogen decarboxylase (~90% deficiency)
erythropoietic protoporphyria*ferrochelatase (~75% deficiency)

How common is porphyria?

The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.1

What causes porphyria?

Most porphyrias are inherited disorders. Scientists have identified genes for all eight enzymes in the heme biosynthetic pathway. Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent. Some porphyrias, such as congenital erythropoietic porphyria, hepatoerythropoietic porphyria, and erythropoietic protoporphyria, occur when a person inherits two abnormal genes, one from each parent. The likeliness of a person passing the abnormal gene or genes to the next generation depends on the type of porphyria.
Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency. This type of porphyria can be triggered by
  • too much iron
  • use of alcohol or estrogen
  • smoking
  • chronic hepatitis C—a long-lasting liver disease that causes inflammation, or swelling, of the liver
  • HIV—the virus that causes AIDS
  • abnormal genes associated with hemochromatosis—the most common form of iron overload disease, which causes the body to absorb too much iron
For all types of porphyria, symptoms can be triggered by
  • use of alcohol
  • smoking
  • use of certain medications or hormones
  • exposure to sunlight
  • stress
  • dieting and fasting

What are the symptoms of porphyria?

Some people with porphyria-causing gene mutations have latent porphyria, meaning they have no symptoms of the disorder. Symptoms of cutaneous porphyrias include
  • oversensitivity to sunlight
  • blisters on exposed areas of the skin
  • itching and swelling on exposed areas of the skin
Symptoms of acute porphyrias include
  • pain in the abdomen—the area between the chest and hips
  • pain in the chest, limbs, or back
  • nausea and vomiting
  • constipation—a condition in which an adult has fewer than three bowel movements a week or a child has fewer than two bowel movements a week, depending on the person
  • urinary retention—the inability to empty the bladder completely
  • confusion
  • hallucinations
  • seizures and muscle weakness
Symptoms of acute porphyrias can develop over hours or days and last for days or weeks. These symptoms can come and go over time, while symptoms of cutaneous porphyrias tend to be more continuous. Porphyria symptoms can vary widely in severity.

How is porphyria diagnosed?

A health care provider diagnoses porphyria with blood, urine, and stool tests. These tests take place at a health care provider’s office or a commercial facility. A blood test involves drawing blood and sending the sample to a lab for analysis. For urine and stool tests, the patient collects a sample of urine or stool in a special container. A health care provider tests the samples in the office or sends them to a lab for analysis. High levels of porphyrins or porphyrin precursors in blood, urine, or stool indicate porphyria. A health care provider may also recommend DNA testing of a blood sample to look for known gene mutations that cause porphyrias.

How is porphyria treated?

Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.

Acute Porphyrias

A health care provider treats acute porphyrias with heme or glucose loading to decrease the liver’s production of porphyrins and porphyrin precursors. A patient receives heme intravenously once a day for 4 days. Glucose loading involves giving a patient a glucose solution by mouth or intravenously. Heme is usually more effective and is the treatment of choice unless symptoms are mild. In rare instances, if symptoms are severe, a health care provider will recommend liver transplantation to treat acute porphyria. In liver transplantation, a surgeon removes a diseased or an injured liver and replaces it with a healthy, whole liver or a segment of a liver from another person, called a donor. A patient has liver transplantation surgery in a hospital under general anesthesia. Liver transplantation can cure liver failure. More information is provided in the NIDDK health topic, Liver Transplantation.

Cutaneous Porphyrias

The most important step a person can take to treat a cutaneous porphyria is to avoid sunlight as much as possible. Other cutaneous porphyrias are treated as follows:
  • Porphyria cutanea tarda. A health care provider treats porphyria cutanea tarda by removing factors that tend to activate the disease and by performing repeated therapeutic phlebotomies to reduce iron in the liver. Therapeutic phlebotomy is the removal of about a pint of blood from a vein in the arm. A technician performs the procedure at a blood donation center, such as a hospital, clinic, or bloodmobile. A patient does not require anesthesia. Another treatment approach is low-dose hydroxychloroquine tablets to reduce porphyrins in the liver.
  • Erythropoietic protoporphyria. People with erythropoietic protoporphyria may be given beta-carotene or cysteine to improve sunlight tolerance, though these medications do not lower porphyrin levels. Experts recommend hepatitis A and B vaccines and avoiding alcohol to prevent protoporphyric liver failure. A health care provider may use liver transplantation or a combination of medications to treat people who develop liver failure. Unfortunately, liver transplantation does not correct the primary defect, which is the continuous overproduction of protoporphyria by bone marrow. Successful bone marrow transplantations may successfully cure erythropoietic protoporphyria. A health care provider only considers bone marrow transplantation if the disease is severe and leading to secondary liver disease.
  • Congenital erythropoietic porphyria and hepatoerythropoietic porphyria. People with congenital erythropoietic porphyria or hepatoerythropoietic porphyria may need surgery to remove the spleen or blood transfusions to treat anemia. A surgeon removes the spleen in a hospital, and a patient receives general anesthesia. With a blood transfusion, a patient receives blood through an intravenous (IV) line inserted into a vein. A technician performs the procedure at a blood donation center, and a patient does not need anesthesia.

Secondary Porphyrinurias

Conditions called secondary porphyrinurias, such as disorders of the liver and bone marrow, as well as a number of drugs, chemicals, and toxins are often mistaken for porphyria because they lead to mild or moderate increases in porphyrin levels in the urine. Only high—not mild or moderate—levels of porphyrin or porphyrin precursors lead to a diagnosis of porphyria.

Eating, Diet, and Nutrition

People with an acute porphyria should eat a diet with an average-to-high level of carbohydrates. The recommended dietary allowance for carbohydrates is 130 g per day for adults and children 1 year of age or older; pregnant and breastfeeding women need higher intakes.2 People should avoid limiting intake of carbohydrates and calories, even for short periods of time, as this type of dieting or fasting can trigger symptoms. People with an acute porphyria who want to lose weight should talk with their health care providers about diets they can follow to lose weight gradually.
People undergoing therapeutic phlebotomies should drink plenty of milk, water, or juice before and after each procedure.
A health care provider may recommend vitamin and mineral supplements for people with a cutaneous porphyria.

Points to Remember

  • Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain.
  • Each of the eight types of porphyria corresponds to low levels of a specific enzyme in the heme biosynthetic pathway.
  • The exact rates of porphyria are unknown and vary around the world. For example, porphyria cutanea tarda is most common in the United States, and variegate porphyria is most common in South America.
  • Most porphyrias result from inheriting an abnormal gene, also called a gene mutation, from one parent.
  • Porphyria cutanea tarda is usually an acquired disorder, meaning factors other than genes cause the enzyme deficiency.
  • Symptoms of cutaneous porphyrias include
    • oversensitivity to sunlight
    • blisters on exposed areas of the skin
    • itching and swelling on exposed areas of the skin
  • Symptoms of acute porphyrias include
    • pain in the abdomen
    • pain in the chest, limbs, or back
    • nausea and vomiting
    • constipation
    • urinary retention
    • confusion
    • hallucinations
    • seizures and muscle weakness
  • A health care provider diagnoses porphyria with blood, urine, and stool tests.
  • Treatment for porphyria depends on the type of porphyria the person has and the severity of the symptoms.

References

Clinical Trials

The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and other components of the National Institutes of Health (NIH) conduct and support research into many diseases and conditions.

What are clinical trials, and are they right for you?

Clinical trials are part of clinical research and at the heart of all medical advances. Clinical trials look at new ways to prevent, detect, or treat disease. Researchers also use clinical trials to look at other aspects of care, such as improving the quality of life for people with chronic illnesses. Find out if clinical trials are right for you .

What clinical trials are open?

Clinical trials that are currently open and are recruiting can be viewed at www.ClinicalTrials.gov .
February 2014
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Alternate Versions

This content is provided as a service of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), part of the National Institutes of Health. The NIDDK translates and disseminates research findings through its clearinghouses and education programs to increase knowledge and understanding about health and disease among patients, health professionals, and the public. Content produced by the NIDDK is carefully reviewed by NIDDK scientists and other experts.
The NIDDK would like to thank:
Herbert L. Bonkovsky, M.D., Carolinas Health Care System

Monday, June 26, 2017

Glass Beaker Publishing Disa McCarthy EPP Book Project Scope ***Attention EPP PATIENTS***

Glass Beaker Publishing
     Disa McCarthy
EPP Book Project Scope
December 8, 2016

Overview

1.    EPP Book Project Background and Description

The author and interviewer has EPP and is creating a book she wished she could find while researching her own symptoms.
The book content will include basic information about EPP (Erythropoetic ProtoPorphyria), but the bulk of it will be anecdotal stories of the lives of several (6-10) people who have been diagnosed with EPP. It will also include charts of raw, anonymous data from 12-50 people such as the age of diagnosis, severity of symptoms, etc. 

2.    Implementation

The author will conduct interviews with anyone willing to tell their story. The approximate steps will be:
1)     Person with EPP expresses interest in being interviewed
2)     Person with EPP is given a survey with basic medical information questions and is asked for available dates to speak via phone/skype.
3)     Upon completion of the survey and interview, the data from the survey is retained in a database and the interview transcribed.

3.    Deliverables

Survey (see below)
Verbal Interview (see questions below)
Book – final product

4.    People/Partners involved

Disa McCarthy – author/interviewee
Glass Beaker Publishing, LLC – Publishing company
American Porphyria Foundation – Seeking partnership, specifically help finding people with EPP and supporting the book as a resource upon completion.
People with EPP – to complete the survey, to interview, and ultimately as a target market.

5.    Timeline/Schedule

The survey can be sent out the first week of January, and interviews will be scheduled for January, February and March of next year. The book will be written by June of 2017, and edited/finalized by August 2017.

Approval and Assistance to Proceed

I am seeking approval, authority (if necessary) and assistance from the American Porphyria Foundation, and welcome any questions, concerns or comments you may have.

Survey

This survey will be given to anyone and everyone who has or thinks they may have EPP. The format will be a Google Form for ease of use and collection. Each question will have the answers available in a multiple-choice format.
Questions:
1)     Age at symptom onset?
2)     Did you have difficulty getting a diagnosis?
3)     How many tests did you undergo to achieve diagnosis?
4)     How many doctors did you visit for your EPP symptoms prior to diagnosis?
5)     Were you able to attain a diagnosis?
6)     Age at diagnosis?
7)     Age now:
8)     Ethnic background:
9)     Does anyone else in your family have EPP that you know about?
10)   Does anyone else in your family have porphyria that you know about?
11)   Symptoms possessed upon sun exposure: (tingling on chin) (pain) (itching) (blisters) (swelling) (fatigue) (panic)
12)   If you have swelling, please rate the level of swelling from 1 – 5, where 1 is mild, 2 is noticeable, and 5 is skin-splitting.
13)   If you have blistering, please rate the level of blistering from 1 – 5, where 1 is a slight rash to 5, 2nd degree burn level.
14)   If you have pain upon exposure, please rate the level of pain from 1 – 10, where 1 is uncomfortable, 6 is unable to concentrate well through the pain and 10 is unbearable.
15)   Where does pain occur upon exposure – please list 1 for worst, 2 for 2nd worst, 3 for 3rd worst, etc: (hands) (arms) (face) (chin) (shoulders) (neck) (chest) (trunk) (legs) (ankles) (feet)
16)   Has your social life suffered as a result of EPP?
17)   If you are over 18, do you work during the day?
18)   Do you have trouble managing appointments, work, or student life on a normal schedule?
19)   Do you wear special clothing prior to leaving the home?
20)   Do you use any of the following on a daily basis: (sunscreen) (hat) (scarf) (face covering) (long sleeves) (gloves)
21)   Do you ever purposely not use a hat, scarf or covering when out among people simply to “fit in”?
22)   If you do neglect proper covering, how long is your recovery period until you feel back to normal?
23)   Has your life improved since diagnosis?
24)   Have you been more socially active since diagnosis?
25)   Do you feel that knowing the name of what you are suffering from has benefitted you in any way?


Interview

The following are questions to be asked the interviewees verbally. Questions may be viewed prior to interview. The interviewer may ask follow-up questions to these if she feels that an interviewee could speak more about a certain area. All interviews will be recorded to ensure accuracy. Some questions may overlap the survey.

1)     Tell me about your diagnosis – how old were you and what was the process like?
2)     What has been different before diagnosis and after diagnosis?
3)     Were you ever isolated as a result of EPP?
4)     Do you feel those situations could have been handled differently, and if so, how?
5)     Do you suspect anyone else in your family has EPP?
6)     How do you handle family functions or events with large groups of people in indoor/outdoor settings?
7)     What has been the hardest part about having EPP?
8)     In what ways has having EPP made you a better person?
9)     Currently, how severe are your symptoms?
10)   What is an “average attack” like?
11)   What was the worst bout of EPP like?
12)   What works for you for prevention?
13)   What works for you in the case of accidental exposure?
14)   If you feel pain start, what actions do you take?
15)   Do you feel you need to hide your symptoms at work or with friends?
16)   Do you have people you can speak openly to about your symptoms?
17)   What advice would you have for an adult that suspects they may have EPP?
18)    What advice would you have for a parent who recently learned their small child has EPP?


Please feel free to reach out anytime with questions or concerns.
Disa McCarthy
480.241.8750

Glass Beaker Publishing
602.773.1336

Friday, June 23, 2017

Meghann Bauer Journey with EPP

Meghann Bauer



Type of Porphyria: 
Erythropoietic Protoporphyria (EPP)
Meghann Bauer has had symptoms of  protoporphyria (EPP) since she was a little baby, yet her parents took her to different doctors for years before she was diagnosed at age 16 with EPP.
Meghann says "I just never found the right way to describe my symptoms so that the doctors would think to test me for EPP," and she was tested for lupus and many other conditions before her diagnosis. It wasn't until her mother brought Meghann to her pediatrician's office saying that she had watched Meghann fall asleep on a family car trip, and that every time the sun hit Meghann's skin she flinched away from it or woke up in pain, that doctors began to suspect porphyria.
Watching the Discovery Channel recently, Meghann found the story told in an episode of Mystery Diagnosis strikingly familiar. The show featured the Leppert family and their struggle to come up with an EPP diagnosis for their son Craig, and Meghann's family went through many of the same stages of misdiagnosis that the Leppert family did. Meghann says Craig Leppert's description of his EPP symptoms matches the feeling perfectly: "it's like putting your hand on a hot stove and then slicing your skin with a knife," a pain that is dull and steady and then suddenly sharp and searing.
Meghann has memories from her childhood of running her hands under cold water to relieve the burning pain. She and her parents did not know it was dangerous for her to be out in the sun, so she was exposed throughout the summer and the season meant constant pain. She recalls falling asleep covered in ice packs every night, and her mother describes little Meghann as having been in such pain every night, and then finally, when the ice cooled her enough and she was simply exhausted, she would heave a big sigh and go to sleep.
When she was very small, Meghann's doctors suggested she was allergic to PABA because every time her symptoms flared up she had been covered in a sunscreen containing PABA. No one realized the problem was the sun itself, not her parents' efforts to protect her.
When her pediatricians could not find anything wrong with her, they even told Meghann's parents to take her to a psychiatrist for what they assumed were psychological problems. Luckily, the psychiatrist assured Meghann's parents that there was nothing wrong with their daughter emotionally and that something physical was clearly causing her pain.
The dermatologist was surprised when tests came back positive, having said up front "you don't have EPP," something many porphyria patients have heard before. The thing about rare diseases is that while most people don't have them, some people do. And the people with those diseases are just as deserving of diagnosis and treatment as those with more common conditions. Diagnosis did not come til age 16. Yeesh!
Since she was diagnosed, Meghann takes Lumitene to help with her symptoms. She takes 10-12 pills daily throughout the summer months, and fewer in winter. Although she still has some symptoms in the summer, she is usually symptom-free all winter, except when skiing or outdoors in snow country, where the reflected sunlight causes bad symptoms. When she does have flare-ups of her EPP symptoms, she uses motrin and darvocet for pain, and packs on ice.
Meghann has also spoken with Dr. Micheline Mathews-Roth since her diagnosis, and has a genetic counselor who sees several other families in the area whose children have EPP. The genetic counselor is anxious to help and has also been in touch with Dr. Roth.
Today, Meghann is a member of the APF and a patient looking forward to participating in clinical trials of Afamelanotide from Clinuvel. She is hopeful that this may be a way to "help my husband and I do the things we enjoy, such as boating, swimming in our pool, picnics, walking our boxer puppy."

Thursday, June 22, 2017

APF Meeting & Cook Family Award


The American Porphyria Foundation will be hosting a Patient Education meeting for Erythropoietic Protoporphyria on Friday, July 21, 2017 in Craryville, NY at Camp Sundown. See the invite below.
  Invite

Call the APF TODAY to RSVP on 1.866.APF.3635! We are looking forward to seeing you there.


CONGRATULATIONS TO THE COOK FAMILY!

The American Porphyria Foundation presents the President's Award each year to those who have assisted the APF greatly in achieving our mission to fund research, provide education, and create awareness. The awardee goes above and beyond to support their communities including patients, caregivers, families and physicians.
The President's Award 2017 has been given to the Cook Family for their outstanding service to the American Porphyria Foundation. Congratulations and thank you for all that you do. See the photo below of Caul and Cason Cook. The Cook Family: Lee Ann, Chris, Caul and Cason.
Cason and Caul 

Wednesday, June 21, 2017

Pub MD: Erythropoietic Protoporphyria, Autosomal Recessive

Erythropoietic Protoporphyria, Autosomal Recessive.

Authors

Balwani M1Bloomer J2Desnick R1; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network.

Source

GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2012 Sep 27 [updated 2014 Oct 16].

Excerpt

CLINICAL CHARACTERISTICS:

Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Blistering lesions are uncommon. Symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after the initial phototoxic reaction. Photosensitivity usually remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. Approximately 20%-30% of individuals with EPP have some degree of liver dysfunction, which is typically mild with slight elevations of the liver enzymes. Up to 5% may develop more advanced liver disease which may be accompanied by motor neuropathy similar to that seen in the acute porphyrias. Except for the small minority with advanced liver disease, life expectancy is not reduced.

DIAGNOSIS/TESTING:

Detection of markedly increased free erythrocyte protoporphyrin is the most sensitive and specific biochemical diagnostic test for EPP. Identification of biallelic pathogenic variants in FECH, encoding ferrochelatase, confirms the diagnosis.

MANAGEMENT:

Treatment of manifestations: There is no FDA-approved treatment for this disease or specific treatment for the acute photosensitivity. The pain is not responsive to narcotic analgesics. The only effective current treatment is prevention of the painful attacks by avoidance of sun/light (including the long-wave ultraviolet light sunlight that passes through window glass) through use of protective clothing (e.g., long sleeves, gloves, wide-brimmed hats, protective tinted glass for cars and windows). Although topical sunscreens are typically not useful, some tanning products containing creams which cause increased pigmentation may be helpful. Oral Lumitene™ (β-carotene) may improve tolerance to sunlight by causing mild skin discoloration due to carotenemia. Severe liver complications are difficult to treat: cholestyramine and other porphyrin absorbents (to interrupt the enterohepatic circulation of protoporphyrin and promote its fecal excretion) and plasmapheresis and intravenous hemin are sometimes beneficial. Liver transplantation may be required. Prevention of secondary complications: Vitamin D supplementation to prevent vitamin D insufficiency due to sun avoidance. Surveillance: Monitoring of: hepatic function every 6-12 months and hepatic imaging if cholelithiasis is suspected; erythrocyte protoporphyrin levels (free and zinc-chelated), hematologic indices, and iron profile annually; vitamin D 25-OH levels. Agents/circumstances to avoid: Sunlight and UV light; for those with hepatic dysfunction, drugs that may induce cholestasis (e.g., estrogens); for those with cholestatic liver failure, use of protective filters for artificial lights in the operating room to avoid phototoxic damage. Evaluation of relatives at risk: If both FECH pathogenic variants have been identified in an affected family member, at-risk relatives can be tested as newborns or infants so that those with biallelic pathogenic variants can benefit from early intervention (sun protection) and future monitoring for signs of liver dysfunction. Therapies under investigation: Clinical trials for afamelanotide, an α-melanocyte stimulating hormone analog that increases melanin production (and thus skin pigmentation) have recently been completed.

GENETIC COUNSELING:

EPP is inherited in an autosomal recessive manner. In about 96% of cases an affected individual inherits a loss-of-function FECH allele from one parent and a low-expression FECH allele from the other parent. In about 4% of cases, an affected individual has two loss-of-function FECH alleles. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Heterozygotes (carriers) and individuals who inherit two low-expression alleles are asymptomatic. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.
Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

Monday, June 19, 2017

Dear JOHN Letter Doris Stevens VP

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

P.S: John, I have often been asked to write about you and to attempt this had caused me to be unbearable to live with for days, but a Dear John letter was a very pleasant task.

Here is one to print and share with your Doctors Overview from: Herbert L. Bonkovsky, M.D., Carolinas Health Care System

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