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
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
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
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
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
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
nbsp;nbsp;nbsp;nbsp;nbsp;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 realtives. If it was like my family, they never wanted to talk
about illness or finances because it was no one's business and also 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.
I have just finished writing a non-technical physician/patient handbook on
porphyria. Why? Because I did notwant 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.
And I will close by saying that through all of this I had 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 help care for me.