A Story about Michelle Bridges and AIP

Michelle Bridges

Type of Porphyria: 

Acute Intermittent Porphyria (AIP)

I spent my whole life with unexplained symptoms. Sometimes my legs would give out, and I would have back pain, abdominal pain, slurred speech, difficulties walking and so forth. When I was 16, doctors found a mass in my brain. After removing what they could, all my health problems were blamed on “post surgical changes.”
In 2005, the doctors began to wonder about other causes. I was sent to see a gastroenterologist and diagnosed with pancreatitis. But there was no explanation for my abdominal pains that would come out of nowhere and then disappear. The doctors decided that is was due to a problem with my digestion and cut part of my bile duct. However, I landed back in the hospital with pancreatitis. Then nothing happened for about eight months.
At the end of July 2006, I began to have problems again. They put me on Reglan with the intention of running more tests and after about a week, I woke up feeling bizarre. I was in a haze and unable to function. I had called a friend and asked her to take me to the hospital. I turned to walk down the hall towards my bedroom so I could lie down, but my legs would not move. I remember standing there thinking “you bend the knee and extend the leg.” By the time I had dragged myself down the hall, my arms wouldn't cooperate and I fell over.
When the paramedics got the house I swear I asked if I was having a stroke. My son says I just lay there with my tongue hanging out, in and out of consciousness and seizure activity.  I don't remember. The ER released me to my husband with the diagnosis “allergic reaction.” The following day I could not speak. Again, I went to the ER, but this time it was to a different hospital, one covered through our insurance. The doctor told my husband I was being over-medicated, and then a student at the hospital noticed the color of my urine and suggested to the doctor that my condition might be porphyria. She was correct!
I don't remember anything from the end of 2006 to 2008. Treatment for my symptoms made some things worse. I had been active in my church and homeschooled other people’s children as well as my own, but I had to stop educating others and withdrew from some activities at church.
We have had a hard time finding doctors who will treat me. This disease is rare and doctors aren't experienced with it. With my new oncologist’s gentle touch and the support of the staff at our new hospital, I have become more active. I am not spending as much time in the hospital, and I still homeschool my children, write curriculums and resource guides, and do crafts for craft fairs and whatever else I can to support the church and help others. I do all of these activities from my bed because I am too weak and have too much pain to leave the bedroom for long stretches and I get sick so easily. But I do like to have some level of activity in my life and so I try to contribute where I can while being careful of my health.

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

Treatment Options

The American Porphyria Foundation promotes comprehensive care necessary for treating individuals with Porphyria.  Although there is no cure for porphyria, there is treatment available for each type of the disease.

In this section of our website you'll find detailed information on Panhematin® for acute porphyria (AIP, VP, HCP or ADP) and Lumitene for Erythropoietic Protoporphyria (EPP), tips on finding a local doctor and building a good working relationship with your doctor. Treatment for each of these diseases involves more than a single medication. Please see the disease descriptions for additional information.

The medications mentioned in this section of the site are for acute porphyria and EPP only. For treatment options for Porphyria Cutanea Tarda (PCT), Congenital Erythropoietic Protoporphyria (CEP) and Hepatoerythropoietic Porphyria (HEP) please see the disease descriptions.

Panhematin® for Acute Porphyria (AIP, VP, HCP, ADP)

Panhematin® is a treatment for the acute porphyrias manufactured by Lundbeck Inc. in Deerfield, IL. It is a lyophilized form of alkaline heme that has to be reconstituted immediately prior to administration. Panhematin® should be infused into a large peripheral vein. A large central line or port may be used, if available.

Doctors administer Panhematin® to correct heme deficiency in the liver and repress production of porphyrin precursors. Panhematin® almost always normalizes porphyrin and porphyrin precursor values. Three to four mg/kg of Panhematin® given once daily for four days early in an attack produces a highly beneficial effect in most patients. Commonly noted are decreases in pulse rate, blood pressure, abdominal pain, as well as decreased levels of urinary porphobilinogen (PBG). These effects can occur within a day.

Panhematin® is the only commercially available heme therapy in the United States. (Heme arginate is another preparation, but is only available outside of the U.S.) While a high carbohydrate diet is recommended for patients with porphyria, it is not regarded as highly effective by itself. Intravenous glucose therapy is a treatment option for mild attacks. When heme therapy was introduced as a treatment, it was recommended that it be initiated only after several days of glucose therapy was unsuccessful.

Today, physicians experienced in treating patients with attacks of porphyria recommend early use of Panhematin® rather than waiting to see if glucose alone will be of decisive help.

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

Clinical Studies: What’s in It for You?

Clinical Studies:

What’s in It for You?

All porphyria patients and their families can contribute to

medical knowledge of these diseases by volunteering for research.

Each of the five Porphyria Clinical Research Consortium

centers is recruiting patient volunteers with all types of

porphyria. Participation could include treatment trials, or simply

visiting a Consortium clinic.

I have been lucky enough to take part in two clinical studies

since my diagnosis with AIP in 1995. For me the most rewarding

part of each project was the one-on-one time spent

with a porphyria expert. As part of each study I was examined

by, and discussed my history with, a doctor who had

spent an entire career studying and treating the porphyrias.

From a purely selfish point of view, I found it comforting to receive

feedback on my experience with AIP, and advice about

future treatment, from physicians who have seen more than a

handful of cases. While I have always liked the doctors who

care for me at my local hospital, speaking with an expert

gave me added confidence that I am following the best

course of treatment for me.

There is also the greater good to be served by taking part in

a study. Patients who volunteer for clinical research can be

proud to know that they are adding to medical knowledge

about porphyria, making it possible for other patients to receive

better care. Understanding that porphyria is a family

disease makes this easy for anyone to relate to.

— Mira Geffner

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

Sensitivity & specificity of tests for Porphyria

Sensitivity is a feature of many of the diagnostic tests for porphyrias, especially when they are done at or near the time of symptoms. Tests that are sensitive for diagnosis of active porphyrias are almost always abnormal when symptoms of Porphyria are present. But the tests vary in specificity, meaning that some of the tests (those with lower specificity) are abnormal in other diseases.
In choosing a test to screen for a disease that is not only uncommon but also causes symptoms that mimic more common diseases, it is obviously important to choose a test that is both sensitive and specific. Fortunately, some tests for Porphyria have both of these features. With such tests, it should always be possible to determine if symptoms might be due to one of the porphyrias.

Table 1. Diseases due to deficiencies of specific enzymes of the heme biosynthetic pathway

The enzymes and their intermediates (substrates and products) are shown in sequence. Some intermediates are porphyrinogens (reduced porphyrins); these are excreted and measured mostly as oxidized porphyrins (click on any of the yellow-highlighted enzyme names to determine if the substances should be measured in blood, urine or feces). A deficiency of the first enzyme, ALAS, causes a type of anemia rather than a Porphyria. (Uroporphyrinogen I synthase is an obsolete term for PBGD and is not shown in the Table.)

Porphyria should be suspected quite frequently, because the symptoms that suggest the diagnosis are common. If a diagnosis of Porphyria is not made promptly, serious consequences to the patient may follow. But more often than not, laboratory testing will show that the patient does not have Porphyria, because other diseases with symptoms that mimic Porphyria are much more common. An effective approach to laboratory testing is one that does not often miss the diagnosis and also does not often incorrectly suggest that Porphyria is present.

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

Misinterpretation of test results

Diagnosis of Porphyria is often delayed, and it has become widely recognized that physicians should maintain a high index of suspicion for these conditions. It is less widely appreciated that incorrect diagnoses of Porphyria are common in patients with symptoms due to other diseases. Therefore, in patients with a past history of Porphyria, it is important to review the laboratory data that were the basis for the original diagnosis. Further testing may be necessary if the diagnosis was not adequately documented.
Incorrect diagnoses of Porphyria can occur in patients having minimal abnormalities in laboratory tests, such as small elevations in urinary porphyrins or porphyrin precursors that in fact have little or no diagnostic significance. Incorrect diagnoses are less likely if reliance is placed on a few first-line tests in most clinical situations, as described above. Overuse and over interpretation of minor abnormalities in results of second-line tests including erythrocyte PBGD, other enzyme assays, and fractionation of urinary and fecal porphyrins, account for many incorrect diagnoses of Porphyria.
AT PRESENT LABCORP & QUEST ARE NOT RECOMMENDED FOR EPP TESTING.

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

U.S. Porphyria labs

There has been many questions as to where Porphyria Testing can be done.  The American Porphyria Foundation can help you.  For additional information please visit:  www.porphyriafoundation.com

There are only a few laboratories in the United States that can perform the complex analysis to diagnose Porphyria. The laboratories listed with a ** are overseen by a Porphyria expert who can consult with your physician about your test results. It is always best to have your doctor's office call the laboratory before sending samples to verify collection and shipping instructions.

University of Texas Medical Branch**
Porphyria Center
Dr. Karl Anderson
RT-J 09 Ewing Hall
Galveston, TX 77550
(409) 772-4661
ARUP Laboratories**
University of Utah
500 Chipeta Way
Salt Lake City, UT 84108
(801) 583-2787
Fairview University Diagnostic Laboratories
University Campus, Mayo Bldg., Room D-293
420 Delaware Street SE (UH-198)
Minneapolis, MN 55455
(612)-273-7838
Please note: This lab does urine tests on site; blood and stool samples are sent out to the University of Texas, Galveston Porphyria Laboratory for testing and interpretation.
Mount Sinai Medical Center**
Department of Human Genetics
Dana Doheny, MS, CGC, Genetic Counselor
Porphyria DNA Testing Laboratory
Department of Human Genetics & Genomic Sciences
Mount Sinai School of Medicine
1425 Madison Avenue, Room 14-74, Box 1498
New York, NY 10029-6574
Tel: (212) 659-6779
Email: porphyria@mssm.edu
DNA testing for six porphyrias: AIP, HCP, VP, f-PCT, EPP, CEP
Quest Diagnostics
33608 Ortega Highway
San Juan Capistrano, CA 92690
(800) 642-4657
AT PRESENT LABCORP & QUEST ARE NOT RECOMMENDED FOR EPP TESTING

Mayo Medical Laboratories
Tel: (800) 533-1710 or (507) 266-2888
Fax: (507) 266-2888
Please note: The physician or hospital ordering the tests should phone ahead to the laboratory before ordering tests or shipping samples. Telephone consultation is provided to health care professionals only.  Direct patient consultation is not provided over the telephone.

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

A Lesson in Humility

If you can start the day without caffeine,
If you can get going without pep pills,
If you can always be cheerful, ignoring aches and pains,
If you can resist complaining and boring people with your troubles,
If you can eat the same food every day and be grateful for it,
If you can understand when your loved ones are to busy to give you any time,
If you can overlook it when those you love take it out on you, when through no fault of yours, something goes wrong,
If you can ignore a friend's limited education and never correct him,
If you can resist treating a rich friend better than a poor friend,
If you can face the world without lies and deceit,
If you can conquer tension without medical help,
If you can relax without liquor,
If you can say honestly that deep in your heart you have no prejudice against creed, color or politics,
Then my friend, you are almost as good as your dog.

What words to think about!

Anonymous

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