The Never Ending Porphyria Story
I then went away from a few months. While away I got very ill, and remember the
only thing I could do was to drink a very sugary sweet cola and pan dolce,
a plain bread made where I was living. It took four long days of vomiting,
ab pain and profused sweating and abdominal bloating before I became human
I also learned that I was allergic to shellfish during this time away from home. A few years later I also learned that I could no longer that penicillin. Both times I became red spotted more than I ever was when I had the measles.
I had to have dental work done and when I was given the injection to numb the jaw I remember the feeling of being on a merry-go-round and bright colors flashing and people coming into and going out of sight, sort of like the old Excedrin headache advertising. I was like a drunk leaving thr dentist's office and promptly passed out in the car. When I finally reached home I began vomiting and having another flu attack.
Three days later I emerged once again just fine. I told my doc about it and he said that I was probably having problems with PMS.
0nce again I had been strictly dieting. I never fast. But my caloric content was lower than normal proably about 25%. My meals were balanced and nutritious. I went to a friend house and we were celebrating her birthday and suddenly the ab pain was so bad I knew that I would pass out.
I went home and got family and went to the hospital. I was scoped, scanned, xrayed, irrigated, poked, bled, and you name it. There was nothing. Four days later my doc tells me that it is all in my head. In my discharge notes he writes that I had intestinal blockage. The consulting doctor, the on-call, and E-R doctors all had cited no intestinal blockage, and that the etiology of the pain was unknown.
I went to a bar-beque and the host sprayed his yard with bug bomb and everyone had a can of "OFF". I immediately got nausea and within two hours was vomiting and had to excuse myself. I went numb, blurry visioned, and labored breathing. The next day I could not walk.
Another time I substitute taught in the science department because of a teacher shortage in that field. I was pulled from English and ended up in biology. While my class was not into using chemicals, the chemistry class was. I became very sick before the day was over. Sulfa caused my throat to burn, eyes water, skin itch and nausea, abdominal pain, and a sense of unsteadiness. I got another sub for the last hour and went home and was in bed for three days vomiting and drinking milkshakes which were the only thing I wanted along with 7-Up.
My first husband died and a friend was concerned
that I would not rest and called my doc for a small prescription of
sedatives so that I would be rested before the funeral. The sedative or
anti-anxiety pill made me hallucinate, profusely sweat, eyes to blurr, and I
started vomiting. Luckily bags of fresh hard rolls and dinner rolls had been
brought to the house. I ate crescent rolls and jelly most of the night along
with drinking orange juice. That stopped the pain and I felt o.k. to attend
I then got the Epstein-Barr and also the pneumonia that spring. I came home from Hawaii really sick. It was months before I started to feel better. I revanished the wainscoating in my front porch and had a similar reaction to the varnish as I had had to the sedative. Sick for four days without any help because I no longer would see my old doc.
After I became engaged again and remarried I begain going to doctors again. Finally after another bout of pneumonia I saw the on-call at the walk-in clinic and I found out that I could no longer ever have penicillin. The sulfa drugs were also taboo so I went without anything. Another month passed and I had pneumonia again and saw a lady doc. She gave me Cipro and it worked. I began having my annual exams again and really liked this doctor. She was thorough. At that time I was having hot flashes and this lady doc prescribed bellergal.
Wow, what a trip. Insomnia, restlessness, nausea, little tremors, flashing lights, and spacy feelings. I kept the Rx but rarely took it, and when I did the same thing would happen again. The drug is from the ergot family and very Unsafe.
I faced surgery and because of some community problems and being scared of surgery, my doctor gave me a sedative or anti-anxiety type medication. A few hours after taking it I was crying non-stop, walls crashing in on me, a crushing and suffocating feeling, and blurred vision.
I had had a series of bad pap smears, cyrosurgeries, cone-ops, and finally ended up having to have a hysterectomy. As a followup I was given Premarin to keep me healthy after a hysterectomy. Well folks, I got sick from it repeatedy and eventually it gave me blood clots and a pulmonary emboli. Premarin, being estrogen, is also Unsafe.
During this time this lovely lady doc left her local practice and she referred me to a real gem. I was not happy to have to go to a male doctor again, but she offered me a choice, and I told her of my hesitancy, and she told me her choice and so I went.
This wonderful doctor is thorough, caring, and ordered tests I had never had before. By this time I was regularly having trouble with numbness and leg gait and foot drag. We looked at the possibility of MS and eventually he referred me to a neuro for this. Nothing however showed on the CT Scan. He also immediately found that I was hypothyroid, and set out to correct this.
My doc also found elevations in my liver panel. A very high level of alkaline phospatase, SGOT and other liver function tests. He consulted several times with a gastroenterologist familiar with the liver. I was not an alcoholic, nor did I have hepatitis, the two main causes of this liver elevation.
For nine years we followed this liver elevation and the numbness and problems with gait. He tested me for all kinds of things, and one by one ruled out a lot of different things.
I was of no help to him. Because of my previous old doc who kept telling me that I was imagining it all, I protected myself by withdrawing into a safe little shell and only letting out a little information at a time. Then my doc would pursue that one thing. In this way I did not bombard him with a mile long list of symptoms which would probably end up with me in the psych ward as a hypo.
Eventually I saw my primary care physician for the fine dedicated physician he is. A non-judgemental person, very exacting, persevering, unpretenious and willing to learn with me.He is open to dicussing everything with me so that I could understand myself, my body, my health or lack therof.
The big breakthrough came when my new
husband and I went to New England to see the fall foilage. We arrived early and I
was very tired, but had trouble sleeping. Insomnia, restlessnes,sweating, gut
pain, and slight nausea. Also people kept arriving at the hotel all night long
and each new arrival would use their washroom and the pipe would clang.
I decided when I got up in the middle of the night that I would not add to the
noise of the pipes by flushing. It could just wait until morning.
The next morning I went in the bathroom and was shocked to see a toilet bowl full of red urine. I knew it could not be what It appeared to be because I had had the hysterectomy.
That morning we left to drive the short distance to Kennebunkport, Maine for a lobster lunch. I looked up the phone number of the closest medical facility and called Portsmouth, New Hamopshire a short distance away. I spoke with a doctor there who was both familiar with my problem and also where I lived.
I was scheduled to see a rheumatologist the next day and when I saw him he did a complete workup and with the mention of the red urine a "light bulb" sort of stood out in his expression. He sent me to the lab to pick up a 24 hour urine test.The urine test came back with elevated reading but not large elevations. Today I know that this was not surprising since I had all ready returned to a state of remission from my acute attack.
My rheumatologist knew that it showed porphyria but was not sure which one it might be. I did not even know the word porphyria and I asked him to write it down on a slip of paper. I was after all an English teacher and thought I knew most words. But porphyria brought on a whole new world of medical words to me in the months to come.I immediately went to the medical library only to find out that porphyria is most often misdiagnosed as a mental disease. No wonder I had been hearing the "psycholohical" thing for so many years.
A week later I was hospitalized with another acute attack. The ER wanted to send me home, and I refused to go. I sat on an ER exam table from 2 a.m until my primary care physician arrivced at 7 a.m. Lots of tests were run, and after three days the pain subsided and I felt back to normal. A consulting doctor looked at my face and said that I did not have porphyria.
Meanwhile my primary physician had made consultant referral to Mayo Due to the liver elevations. While there the heptologist referred me to a hemo who was suppose to be a porph specialist. The whole experience at Mayo left me cold. They would not accept the porphyria lab tests that had been run in their own lab because it had been administered at my hometown clinic.
Most of my Mayo tests were rerun their in their own lab, causing enormous additional costs. Being out of state my insurance also would not give me the full coverage.
While there I got an UIT and had to go on Ciprofloxin. On the trip home I was getting sicker and sicker. The same thing all over again. Another acute attack.
I was scheduled for an MRI in a neighboring city. I went there and after the radiological dyes were administered and or due to the fasting because I could not eat after midnight and the MRI was at 1 p.m. I went into another acute attack. It was a very long ride home, 75 miles in a blinding snowstorm and waves of nausea and abdominal pain gripping me.
I wrote in my annual Christmas letter of my problem. Immediately after receiving my letter the phone calls from nieces and grand nieces and nephews starting coming. They all had porphyria.
AIP and PCT
Another family member had called earlier and had asked me if I knew if anyone in the family had "porpuoises". I starting laughing and said..no it was too cold in North Dakota to keep a porpoise. And I hung up thinking maybe he was a little weird or having a happy time partying.
nbsp;Later I realized that he had meant to say "porphyrins". He was concerned because his oldest child had just be given a confirmed diagnosis and he was wondering where it had come from.
A nephew set up a conference call and I had a crash course in AIP/PCT. I was given the name of the APF and also of Dr. Pierach in Minneapolis, along with their porphyria specialist at the University of California in San Francisco where they had received their diagnosic confirmation.
I was again hospitalized and during a period of severe vomiting the nurse called the on-call who ordered Reglan. The nurse came and gave me the Reglan since I could not find it on my unsafe drug list. I did not know at that time that all drugs have three names. The Reglan took me on a trip to the limits. I was in and out of it and found myself throwing the ice/water container in the face of the RN and thinking that I could fly off of an elevator gurney while being transferred to my bed.
A consulting doc come in and looked at my drug list and found my Verapimil and said that was a no-no. In fact he found many drugs that I had been given in the past that were indeed unsafe.
I was the first porphyria patient my doctor has ever seen, and he really did not know too much about it. But with his positive attitude and his regard for his patients he has become porphyria knowledgeable and gives me timely and adequate Intervention during acute attacks.
nbsp;nbsp;nbsp;nbsp;nbsp;My first horrible experiences at the ER are a thing of the past. I now have standing orders for a direct admit to the ward. I am to immediately have my labs run, IV line put in and pain management begun. I can not say enough about the these orders because it has simplified the whole hospital process and lessened the stress on me at a time when stress begins to build.
nbsp;nbsp;nbsp;nbsp;nbsp; Dr. Pierach the chairman of the medical scientific advisory board of the APF confirmed my diagnosis based on family history and the Mayo test findings.
nbsp;nbsp;nbsp;nbsp;nbsp;With the help of family members I consulted with a chemical toxicologist who ordered blood and hair specimens from me during each successive acute attack for a period of nine months. I learned what was in my blood,and the exposure I had just prior to each attack. I also learned that in our AIP mutations our family tends to show a normal level rather than a decrease PBG deaminase in the blood serum. This trends appears only in a certain mutations and a family lineage linked to an area on the west coast of England from which my paternal great grandmother's family originated.
nbsp;nbsp;nbsp;nbsp;nbsp;The specialist found that I had very high levels of acrylamide and a fungicide in my blood. This was from the Spring of 1997 flood which covered out entire city causing some 70,000+ people to flee their homes. 0nce home We had to rid our houses of black mold and hugh quanities of fungicides were used in washing the walls, floors and rafters. I had breathed this chemical for days on end.
nbsp;nbsp;nbsp;nbsp;nbsp;The next things was the acrylamide used to fill the cracks in the basement floor and walls caused by the settling of the house from the emptying of the flood waters. I was closed in my home with this foul odor for days and it resulted in a bad attack with PN taking my body into a complete paralysis for five days straight. My doctor prescribed treatment at the ReHabilitation Hospital, and eventually I was able to walk normally again.
nbsp;nbsp;nbsp;nbsp;nbsp;I continued in the chemical toxicologiy program. A lab tech became a buddy who would draw the blood during each acute attack, ice it, put it in the right vial and with the right color tops, and then drive it out to the airport and send it FedEx to the testing center. Immediately I would be called by the physician heading the lab. Today he has become a good friend and someone on whom I rely for accurate information.
I also submitted myself for DNA testing and as I jokingly tell people, I not only have a social security number, drivers license number, a telephone number, a fax number, a frequent flier number, but I now have a mutation number. With this mutation I know my family is my family, and that this mutation appears in the geographical area from which my paternal great grandmother's family originated in England.
nbsp;nbsp;nbsp;nbsp;nbsp;AIP has brought my brother's family closer to me though nearly 2,000 miles apart. My brother was from my Dad's first marriage and I did not grow up with him. I knew of him, but did not really know him. His mother had died when my sister was born. My Dad remarried and two of the four children my his second marriage died. I was the youngest. My brothers children were older or the same age as I am.
nbsp;nbsp;nbsp;nbsp;nbsp;My brother and I and one of my two sisters that lived to adulthood, have the gene for AIP. My brother passed it on to over half of his children, and now over half of his grandchildren also carry the AIP mutation. Also most of the older family members have now acquired PCT because oif the heavy exposure to farm chemicals growing up.
nbsp;nbsp;nbsp;nbsp;nbsp;We have discussed our common findings. None of us can tolerate pesticides, fertilizers, varnishes, some paints, some glues or adhesives. Vinyl chloride and formaldyhide are very bad for us and trigger acute attacks. Tobacco smoke does not trigger an attack but it greatly irritates all of us. Crop dusting is taboo and when the city is fogged for mosquitoes it is time to take cover and stay inside for several hours.
nbsp;nbsp;nbsp;nbsp;nbsp;For me other illnesses are my chief triggers. Dietary has not been a problem except for having to fast for laboratory tests. Alcohol is not a problem because I do not drink.
nbsp;nbsp;nbsp;nbsp;nbsp;Like most people, I have been given new drugs. Ultram/Tramadol caused me seizure activity everytime I took it. Today the drug is labeled not to be taken with demerol, promethazine orcyclobenzaprine. It is also an Unsafe drug for porphryics.
nbsp;nbsp;nbsp;nbsp;nbsp;The last year has been one of many lifestyle changes and being ever vigilant in watching for triggers of acute attacks.
nbsp;nbsp;nbsp;nbsp;nbsp;My confirmed diagnosis is behind me, and yet consuting doctors will doubt the validity of my diagnosis. 0thers through their own ignorance will say that porphyria is too rare for me to have it. Still others will say, you have what?