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
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
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
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
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
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,
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
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
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
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
[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
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
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
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
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.