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Case Histories
A Typical Struggle for Diagnosis


     When I first saw the request on the Internet for Porphyria patients to share their pilgrimages with a diagnosis of porphyria I was excited. Why?
Because I have known I had something wrong for 42 years.

       I answered the request and then started sending the requested medical files and validation of tests and diagnosis.  However that is when Diana said that I was like a carbon-copy to her story, but without a confirmed diagnosis, she would be unable to use the material as one of her case histories in her forthcoming book.  I felt badly because I knew that I had AIP. I have nine siblings and three of my sisters have a diagnosis of AIP/PCT. My one brother also has now received a diagnosis.  I have all the symptoms and have suffered illness all of my adults life and have a few unexplained near-death experiences as a child.

       In December 1998 I was finally able to be confirmed after having a very severe attack, and having to be airlifted back to the United States. But I will leave this story until the end.

       I want to share with you the typical struggle that I feel most porphyrics must go through before getting a confirmed diagnosis.  This is my story, and I have complete documentation.

       I was born in 1934 in Brazos County, Texas.  My father was an orchardist and also did farming raising a few dairy cattle and beef for our own use.  What would Texas be without beef and a barbeque?

       I was healthy, made good grades in school, but would get in trouble from time to time for "not being there".  0h, I was not skipping school, I just was not there when the teacher asked me a question or saw my eyes rolling around my head.

       My parents were called to school because the teacher thought I was goofing off.  0ne playground supervisior one time did make the comment that she thought I was going into seizures after the school dentist has filled a filling.  I remember I got into trouble bigtime that day because I started holding my stomach and vomiting all over the place.  The teacher would not let me go home because I had missed half of the morning in the nurses office getting my teeth filled.

      The same thing became a ritual when I turned 11 1/2 and had my periods
begin.  The week before the due date I would have horrible stomach pain, nausea and vomiting and I would fall off my bicycle and not remember falling off. I was taken to the hospital several different times when I was found cut and bruised after an episode on a bike fall.

     At school the pressure was on because I was absent from school before my period and then too sick during my period and so in effect I was loosing two weeks a month from school I was an A student and really worked hard during the other two weeks, but got marked down on classroom participation because I was not there. So I graduated from high school with a 4.00 grade point average but U in classroom particpation and thus could not qualify for the honor roll or Honors for Scholars.

    I also found myself getting very sick when fumagating was done in the large orange orchards surrounding where I lived.  When it was summer I would go to my grandparents out on the ranch and here too when spraying was done for aphids or grasshoppers I was in big trouble.

    I wanted to study to be a vet and went off to school.  The campus of course has a lot of ag projects going on and I was continously sick.  In bilogy lab I could never make it through a thre hour lab session before getting nausea and vomiting  if we were working with specimens pickled in formaldyhide.

    I chipped a tooth when wrestling with a large dog at the vet's boarding kennels while in college.  I went to the dentist and they said they would have to pull the tooth and then make a fake one for me.  A short time after getting the pain med I started hallucinating right in the dental chair. They called an ambulance and the emergency people placed me in the psych ward for observation. I was having seizures, vomiting and screaming all at the same time.

    Ironically after the second day they wanted to give me sedatives to calm me down, now that the nausea had subsided and I had stopped hallucinating. Well after a few hours at home and taking the sedative that evening I was back in the same hospital and taken their by the same ambulance crew.  I was psycho lady.  They truly believed I was on angel dust and questioned my college roomate at length.

   Humiliation and the bad reputation from all of this made me leave school at the end of that semester.  My dreams of being a vet were really dimmed.

    I took a semester off and worked in the Dallas-Forth Worth area.  I was riding with a friend in the suburd of Plano when we were in a car accident. I was still able to talk when I arrived at the hospital.  They had to do surgery on me because of a large puncture wound in my side.  They were afraid that I might have hurt my liver, but luckily it had not penetrated that far.

     During surgery the anesthesia I was given caused hallucinations, nausea and seizures. The surgeon worked to close under very adverse condiitons.  He said he was concerned whether I would even make it.

      A few years later I was married.  We had champagne at our wedding.  I shared in the traditional glass of champagne which I sipped along with the weddign banquet. I never saw my wedding dance.  My husband was without a bride on his honeymoon.  I was hospitalized for five days while they tried to figure out what was wrong.

     A nurse did comment that I should be wearing Kotex, but I said, I was suppose to be on my honeymoon and I knew my dates very weel, and this was not one of them. Now all these many years later I know that she had noticed the porphyrin urine which in my history is more bloody red than wine red.

     I had seven pregancies.  The first one seemed ok because I was not sick every month. That was true with the next two as well, except toward the seventh month when I had seizure activity.  The other aborted in their six and seventh months.

    Then it was like in college. Two weeks a month and sick and trying to care for my babies. Finally my husband could not handle anymore and moved away from home. 
He said he had talked to the doctors and we had spent over $90,000 in tests and procedures in les than a year.

    Yes, I had the appendix out because that must be it.  Three months later the gall bladder came out since I still had the pain, nausea and vomiting along with seizures. I do not know what they thought the seizures were and I kept asking about them.

    In addition the procedures included GI series, barium enemas, endoscopies three times, and colonoscopies four times, endless abdomoinal exays, CT scans and more bills than we could ever pay.  Several of the doctors were scratching their heads and saying it appeared to be just psychological and perhaps we could work on our personal problems at home, since I was not working outside of the home.  My husband said as he left, for better or worse---but not crazy.

    I asked for and actually got, a hysterectomy and things were fine for several months except I had no income except child support and that went for the house payment and we virtually starved.

    Unable to pay off the bills to the local hospital and clinic and individual doctors, I filed for bankruptcy.  This did nothing to help my morale.  I had not finished college and I had three teenagers and no job skills.

     We moved to another Texas town.  I found a job waitressing in a diner used by docks hand and oil refinery men.  The air was always full of the petroleum processing and there were other chemical plants located there as well.   Almost immediately I started being sick on a regular basis.

      I did realize that glucose IV given in the ER would help me and the pain would subside on its own in about 15-18 hours.

    They refused to give me pain mediction because my medical records that they had sent for all read "psychological". I learned all about pain management on my own without the expense of biofeedback.  I practiced what I had read in a  journal I found in the hospital library and it worked forme. Focus became a real part of me and got me through a lot of acute attacks.

    Because I was still young and had had the hysterectomy the new doctor I was seeing put me on estrogen supplementation.  Immediately I was having horrible dreams, seizures, hallucinations and the traditional abdominal pain, nausea and vomiting... and the disgusting endless contipation.

    My older daughter started having the same symptoms, and a few years later my son who went out on a traditional college kegger was taken to the emergency room hallucinating and had the onset of seizures as well.

    It was at this time an aunt that I had not seen for all of my adult life, was celebrating her 90th birthday and they wanted all of the fmily to be present. So I went to Marin County, in California to attend the celebration, with my kids each taking turns driving and pitching the tent at night. We were all fine the entire trip enjoying the wonders of the Four Corners, Grand Canyon,  the Santa Barbara Coast, Monterrey, San Francisco and the Napa Valley.

    At the celebration I noticed several wheelchair bound elderly, but then there were those in the mid-life as well.  I thought that perhaps that had been hit by polio when they were kids like some had been in my school.

   Then a cousin approached me and said, How is it that you  and your family escaped getting  AIP/PCT when my mother had died from it when I was born?

   I asked what was AIP and PCT?  She told me about porphyria and how the family was full of stories of the horrible disease.  She told me that was why she had never married, because she did not want to pass it on.  As itturns out today she knows she did not Inherit it, but at that age one can not start over.

   Looking at the family tree today, we find that roughly 64 percent of our family inherited the disease and 47 pervcent are acute and the others latent for the most part. Everyone has been tested except for the kids, and here there is again unkowledgeable doctors with those who still hang onto the theory  porphyria does not strike children before puberty.

   A third cousin has a three, seven and nine year who suffer acute attacks and have regular glucose treatment.  The other two children in the family luckily are non carriers of the gene.

    Anyhow well in California we took an extra two weeks.  We all receive testing and just to be sure that we would be fit for testing we enjoyed a lovely dinner in the city with the beautiful Napa Valley sparkiling wine to have along with the festive meal at Pier 39.  Lucikly my non-porph son was driving.  My girls and I became very sick and we produced all of the red urine necessary for testing plus blood serum samples and the concrete stool samples which were done with great difficulty!

   As it turns out the conrete stool were needless since we are AIP. However we all have photosensitivity and PCT whether it is inherited or acquired does not really matter.

    Today we are all fairly healthy as long as we do not mix with vinyl chloride, formaldyhide, new carpeting, wood sealants and paints, pesticides [Off is the worse!]  We are so sterile in the air we breathe and the food we eat, and soap we clean with that  we should live to be 500!

   Unfortunately for me my diagnosis came too late to save from the porphyric polyneuropathy. I have a completely numb right side, severe foot drop for which I must a leg brace.  I was tested many times and the doctors kept running CT Scans because he felt it to be MS. He would then refer me to a specialist where I would meet headon rejection everytime. The Neurologist would say that there was no evidence of seizures, or neuropathy, and that I was trying to get sympathy because of my husband leaving me. This was said twenty years after he had left and 12 years after he was deceased!!!

   I live my life with a daily dose of Neurontin to contain seizures and PN pain.  If I am slow in eating a meal, or get the flu  I have to use Compazine to stop the nausea and subsequent vomiting.  I have both propxyphene and demerol tablets to take for the pain, and of course  now that I am chronic AIP, I infused with a bag glucose every five days unless in an attack and then it is five full bags.

  I am not bitter, but I firmly believe that the medical profession should have been able to determine some diagnosis instead of telling me it was psychological.  That really caused me to loose a lot in life...a husband..a job,... my self-esteem and self-worth.

Today I am a very strong person, and a patient advocate for other porph I have met. And if anyone is "written off" by a doc just because they can't or won't
take the time to review a patient's medical history, I will help them write letters to hospital board of directors, to their licensing boards and to their local newspapers.

Today we have to hold medical professional responsible for their less than responsible attitudes when it comes to telling people that it is "pscyhological" just because they do not wish to do their homework and dig for answers.

A friends recently reminded me that we as porphyria patients are the BOSS.
The doctors are our EMPLOYEES.  If we do not get the service we expect, then we must TERMINATE their services.

Now at age 65 I have my confirmed diagnosis, and still my doctors at home do not wish to believe it, but I become very adamant and tell them like it is and carry by briefcase with all my documentation with me each time I need medical care.

    I am so happy that the book "Porphyria: The Unknown Disease" has been published. I wanted so much to be in that book with my case history.  But  I am telling my story anyhow and hope you can understand that a diagnosis can take forever.  In my case it took 64 years.

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