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My Story
The Big Breakthrough

     The big breakthrough came when my new husband and I went to New England to see the fall foliage. We arrived early and I was very tired, but had trouble sleeping. Insomnia, restlessness, sweating, gut pain, and a 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 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 Hampshire 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 week. When I saw the rheumatologist he did a complete workup. Amazingly, with the mention of the red urine a "light bulb" sort of stood out on his face. 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 "psychological" thing for so many years.

     A week later I was hospitalized with still another acute attack. The ER wanted to send me home and I refused to go. I sat on an ER examination table from 2 a.m until my primary care physician arrived 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. I was kept in the hospital for several days until I again felt human!

     Meanwhile my primary physician had made a consultant referral to Mayo due to the liver elevations. While there the heptologist referred me to a hemotologist who was suppose to be a porphyria specialist as well. 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 in their own lab, causing enormous additional costs.Also, being out of state my insurance would not give me the full coverage.

     While there I got an UTI 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 dilemma. 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 "porpoises". I starting laughing and 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.

     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 their diagnosis confirmed.

     I was again hospitalized and during a period of severe vomiting the nurse called the on-call which 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 had 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.

     My first horrible experiences of 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 until the pain and vomiting is under control.

     Dr. Pierach who at the time was the chairman of the medical scientific advisory board of the APF confirmed my diagnosis based on family history and the Mayo test findings.

     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, 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 in PBG deaminase in the blood serum. This trend appears only in certain mutations and in a family lineage linked to an area on the west coast of England from which my paternal great grandmother's family originated.

     The specialist found that I had very high levels of acrylamide and 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 huge quantities of fungicides were used in washing the walls, floors and rafters. I had breathed this chemical for days on end.

     The next thing 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.

     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 top, 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 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

     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 by his second marriage died. I was the youngest. My brothers children were older or the same age as I am.

     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 the acquired PCT because of the heavy exposure to farm chemicals growing up.

     We have discussed our common findings. None of can tolerate pesticides, fertilizers, varnishes, some paints, some glues or adhesives Vinyl chloride, and formaldehyde 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.

     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.

     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 or cyclobenzaprine. It is also an Unsafe drug for porphyrics.

     The last few years has been one of many lifestyle changes and being ever vigilant in watching for triggers of acute attacks.

     My confirmed diagnosis is behind me, and yet consulting 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?

     If you are still on that path to diagnosis I will share this little helpful hint. Go back and look at all of your calendars, sratchpads, clinical records, and also menses charts, and weight loss charts. List each category by chronological date. Think back on those events, where you were and any porphyria symptoms that might have occurred. Look for cyclic patterns of your symptoms. And take this information with you to your doctor.

     Also visit with the relatives. If it was like my family, they never wanted to talk about illness or finances because it was no one's business and also they did not want to bring shame upon the family should it be something bad.

     I was over fifty years of age when I found out where and why my great grandmother died and the same of her daughter. I also have come to understand my father's death and the extent of pain he must have endured for years upon end.

     Because of this whole experience and a need to have answers I wrote a non-technical physician/patient handbook on porphyria. Why? Because I did not want another soul to go the route I had of no information available to me.

     And what of tomorrow? I plan to keep trying to stay on top of this disease and learn my every trigger and avoid them in order to avoid acute attacks.

     Luckily for me, I have a physician who has arranged home preventive iv infusion. With the preventive protocol I can avoid risking dangerous and costly hospitalizations due to acute attacks. My veins gave out a long time ago and again my physician had the forethought to have a permanent PICC access line surgically implanted into my arm where I can easily access it daily.

     The Preventive Protocol has made a tremendous difference in my quality of life as well as cut health care costs to a minimum. Because I would not have coverage for Home Care in my state unless I was home bound, I was placed under a program called Case Management which allows me to care for myself at home without being home bound.

     And I will close by saying that through all of this I have truly been blessed by the Creator in the gift of a wonderful primary care physician who is there for me through all of this and who is willing and capable to learn all that he can in order to provide the very best of medical care for me.

Diana Deats-O’Reilly, CEO
Porphyria Educational Services

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