My Porphyria Story – written by Penelope B.

 

My name is Penelope. I'm twenty-seven years old and I have a rare
blood disorder called Acute Intermittent Porphyria. It's one out of a
group of eight porphyrias. AIP is an inborn error of metabolism.
Basically, my body has a problem making heme, which is essential to bind
oxygen and iron to blood cells. It causes, simultaneously, anemia and
iron toxemia; also porphyrin presursors can build up in your blood to a
toxic level. Your body uses enzymes to convert chemicals called
porphyrins into heme. Heme is found throughout the body, especially in
your blood and bone marrow, where it carries oxygen. An inherited
deficiency in one of these enzymes can interrupt this process, causing
porphyrins to accumulate in your body.
A chemically sensitive disorder, porphyria is activated by certain
triggers. These triggers include hormones, smoking, alcohol, stress,
infections, injuries, chemicals, fasting and dieting, and some
medicines. When it is activated, porphyrins, or porphyrin precursors can
accumulate in the blood to a toxic level causing severe, bizarre
symptoms during acute attacks. Symptoms of the acute porphyric attacks
include pain in the chest, abdomen, limbs and back; muscle numbness,
hyponatremia, cramping, vomiting, ileus, seizures, tingling, paralysis
and personality changes. Acute attacks can last for days to even years.
Excessive porphyrins in your liver and kidneys can also lead to severe
liver and kidney damage that may eventually require a transplant.
These porphyrins, or also called porphyrin precursors show up in urine.
Given some time in a jar, my pee turns a deep reddish purple. A classic
sign of AIP. When I was younger, immunizations I was given, injuries I
had, hormones I developed and different contraindicated medicines I was
given for injuries and illnesses, activated my porphyria, my DNA defect.
I had acute attacks as a child, we just didn't know that’s what they
were. My attacks were not too severe and I would finally recuperate with
time, when I would be in the intermittent stage.
At twenty-one, while at work I stapled my finger and broke it and I had
to get a tetanus shot afterwards. I started having some strange and
severe symptoms. There were little jerky spasms throughout my body which
was very scary and I was having intense lower belly pain and bad thigh
and back pain, along with having nausea and vomiting that wouldn't go
away.
The first time I went to the ER, my symptoms were attributed to a panic
attack and possible flu. I was given some anti-anxiety, allergy medicine
and I was expected to recover in a few days. I took the medicine, but
my symptoms didn't go away with time. After more trips to the ER, I was
told I had an ovarian cyst and a possible torsed ovary because of the
cyst and that they could be causing my pain and nausea. An OBGYN was
consulted and I was advised to have a pelvic ultrasound and then
laparoscopic surgery. I agreed to have the surgery in a desperate
attempt to relieve my symptoms and was wheeled into surgery at around 10
pm that night.
Post-surgery, the next morning, I was okay at first, but then my pain
started increasing dramatically and my blood pressure got really high. I
developed an upraised, very red "rash" over the whole post-surgery area
that felt like painful nails clawing me from the inside out and felt
hot and burned. I was told it was a possible reaction to the CO2 they
had used during the surgery to inflate my belly. I started feeling
nauseous and was vomiting again. My nurse had to give me pain shots all
day long, as I was in intense pain. I didn't think it was possible to
feel worse than before I'd had the surgery, but I did. I didn't see my
doctor until the next evening when he came to release me. I was worried
about how much pain I was in and he told me he would prescribe me some
more pain medication to take at home. He told me I would get better and
to go home and walk around and that he'd see me in a week. I was scared
but I wanted badly to go home so I went home and did what he said, but I
still wasn't getting any better and I wasn't sure if it was because of
the surgery or not.
A couple nights after I was sent home, I went back to the ER again
because I was worse after my surgery. My new ER doctor learned of my
symptoms, examined the odd red area from the surgery that was still on
my lower stomach, which still felt like painful fire, and he diagnosed
me with the flu. He prescribed me some more pain and anti-nausea
medication and sent me home.
My symptoms continued all that night despite the medicine. When I got up
the next day I felt so sick still and I had been throwing up for almost
two weeks. I got up to go use the bathroom. It was down the hall from
my room and seemed a long way away to me. I don't remember what happened
after that. My mom and step dad later told me that as I came out of the
bathroom, I bent down to move a fan that was in my way, fussing about
it , saying "What is this fan doing here?" and then they heard me hit
the floor.
My step dad was leaving my bedroom at the end of the hallway and going
toward the living room and my mom was on the living room steps. They
later told me that they could tell from the sound and feel of my fall
that I had collapsed, unconscious. My mom said that my step dad was the
first to see me because he was closer to where I was and that his voice
sounded so strange as he yelled to her, "Oh, Oh, Phyllis, she's having a
seizure!" My mom rushed to see me lying there, my whole body seized. It
was a full gran mal seizure. My mom stayed with me and kept me immobile
while my step dad ran barefoot down the street to the local gas station
to call an ambulance, because we didn't have a phone at the time.
Shocked and frightened, they watched me have another seizure, going in
and out of consciousness between each one of them. I was still on the
hallway floor outside of the bathroom where I'd fallen when the
ambulance arrived. I seemed to look okay to the EMTs and my mom told me
that I talked to them and said that I didn't want to go to the hospital.
I was legally an adult, so they said it was my choice and they weren't
going to take me to the hospital. Having witnessed me have two gran mal
seizures, my mom and step dad knew that I was not okay and not at
myself. Thankfully, my mom convinced them to take me to the ER in the
next city over.
I had more seizures in the hospital ER and they decided to send me to a
bigger hospital in Cape Girardeau, Missouri. A friend, who actually
worked in the hospital, stayed with me while my parents went home to
pack some stuff to prepare for a lengthy stay in the hospital. I was
transported by ambulance to the hospital in Cape where I was placed in
ICU for the first two days.
My doctors at Cape didn't know and couldn't figure out what was wrong
with me. The medicines they gave me to treat my symptoms didn't work and
most of them made me worse. My symptoms included big and small
seizures, severe body pain, ileus; where my bowels stopped moving,
hyponatremia; in which my sodium bottomed out, urine retention and
hypertension. My mom tried to get my doctors to find out what was wrong
with me before they gave me any more medicine that wasn't working. Some
of my doctors didn't like that very much, but she never stopped fighting
for me. She actually researched my symptoms in the medical library at
the hospital and came across "porphyria". The symptoms matched mine and
she suddenly remembered, that when she was pregnant with me, she
overheard my grandmother tell my father that her mother was sick with
porphyria and in the hospital. She had struggled for several years after
I was born to try to get doctors to talk to her about it, but their
lack of knowledge of this rare disorder and unconcern led her to
reluctantly drop it.
Now she was convinced I had porphyria and she went up to my doctor and
asked him could it be porphyria. He literally flinched in surprise, she
told me, and he was convinced right then and there that that’s what I
had. He then researched, found, and ordered the rare porphyria test–a
very specific, 24-hour urine catch that determines the porphyrins in
your blood. It is then carefully handled and packaged and sent off
specially to the Mayo clinic. He also took me off of all medication they
had been giving me as he discovered that almost everything I was being
given was on the list of what not to give someone with porphyria,
because it makes them sicker. He knew I was in an acute attack and he
was afraid for my life. I had stopped having seizures, but I was still
having all of the pain and vomiting symptoms and they were getting
worse. He decided to send me by ambulance to Barnes Jewish Hospital in
St. Louis MO. before the test results came back. He was sure that there
they would be better equipped to treat my rare disorder.
At Barnes things got worse before they got better. My first assigned
doctor considered several other possible diagnosis' for me other than
AIP and he ran many tests on me while I was having this acute attack,
and it made it worse for me. My whole body was being affected by this
prolonged untreated attack at the time. Even my eyes hurt when I would
look at people, so I couldn't stand to look at people and at times I
couldn't stand the activity that was around me, so everyone would have
to stop and be still and turn the lights off. I had severe nausea and
vomiting and insomnia, because of the pain and the attack, I couldn't
sleep. It's hard to describe the agony I was in, I felt like I was
dying. I tried to move away from the pain but it just followed me, every
which way I moved. I came very close to start having seizures again. I
got stiff as a board and would go like catatonic afterwards for a few
minutes. This doctor didn't treat me for a porphyria attack and he made
it very difficult for my mother to try to take care of me. He was
eventually taken off my case by the hospital administration.
Then the test results came back proving I had AIP. I was having a
life-threatening attack. My porphyrin count was dangerously extremely
high. I was also diagnosed at the same time with Epstein barre, which
was causing me to have mono too. The next doctor they assigned to my
case was a pulmonologist. He and his interns researched my rare blood
disorder and found out that there is no cure and only one very expensive
and controversial treatment; which is a supplement of the heme missing
from my blood. Only one company in the world made it at that time. My
doctor found them for me and managed to get the heme treatments donated
to me. While we were waiting for the heme to arrive, they put me on a
morphine pump to control my pain, following acute porphyria protocol.
Treatment of acute attacks focuses on eliminating symptoms too, because
the symptoms drive the porphyria. Stopping medications which may have
triggered symptoms, IV glucose, sodium and fluids to combat dehydration,
maintaining a high carbohydrate diet, medication to control the pain
and nausea, prevention and careful, prompt treatment of infections or
illnesses that may have caused the attack. I was starting to get the
treatment I needed, to save my life. I got my heme treatments. It looks
like thick, greenish-black swamp water. We all could tell that I
improved slightly during my treatments, which I got through a midline in
my arm. I was able to rest, I was throwing up less and my pain started
to come down slowly and enough that it could be controlled through a
scheduled oral dosage My seizures went away completely, but I soon
learned, that as a result of this severe attack, my liver was malformed
and I sustained kidney and nerve damage, which causes pain. It's
possible it would take years for me to recover they told me or I might
never be the same. In order to leave the hospital I had to get up and
walk around and we had to find a local doctor willing to take my rare
and difficult case. I got up and walked around with my Mom's help and
patience and a great local doctor agreed to take my case and I was able
to go home.
After I got home, it took ten months but I finally stopped throwing up
everyday. I have to take two very powerful anti-nausea medicines
reserved for chemo patients or I would still be doing it. I assumed that
I would be able to resume my active life but any activity and any kind
of stress, even good stress, made my porphyria more active, so I have to
avoid it. Mainly because my blood pressure gets dangerously high when
I'm active. I also have severe chronic pain, hypertension, peripheral
neuropathy and muscle weakness. When I'm not having to stay in bed, I
need my wheelchair to get around. This was the time that I had to fight
for my SSI disability. I couldn't work and had astronomical hospital
bills to pay. I wouldn't have gotten my disability benefits if my family
hadn't driven me to my doctor appointments and my disability hearing.
Missouri Protection and Advocacy took my case after I was denied and we
won.
I'm still bedridden after six years. My pain and nausea, weakness and
hypertension still worsens from activity. I'm still in an acute phase,
but just recently my porhyrins dropped below three thousand and we are
hopeful that I will recover more with time. I've had one more heme
treatment in the hospital since Barnes and I need more regularly, but I
had phlebitis in both arms due to the treatments through the pick lines
in my arms, so I can't get anymore treatments for a while, till my arms
heal more. My body heals poorly because of the AIP so I have to watch
out for infections, colds and flu’s, also porphyrics can't take most
antibiotics. Heme treatments work better for prevention of acute attacks
and not treatment for after you've had one, but they helped save my
life anyway.After I became disabled, my mom and step dad divorced after
nineteen years of marriage and the land our trailer was sitting on was
sold, so we had to move before we could find a new place. Me and mom
lost our trailer, and we actually became homeless, living out of our
van. It was just me and her now. We lived in hotel rooms and out of our
van until we could find another place to live. We are now living in a
loaned to us travel trailer on land we are slowly buying. While we
appreciate the use of this trailer, I'm sure they want it back soon and
it is too small for me to be able to use my wheelchair in at all. We had
planned to build a modest -sized but nice wheelchair accessible home on
this land and move into it, but haven't been able to afford it for 3
years now. I don't qualify for loans or grants and I haven't got the
income to buy all of the building materials and pay for the labor on my
own and my mom has gotten sick and she can't work. With some help I can
have a better future and quality of life so I am now accepting donations
to help build a wheelchair accessible home.Paul Maples, a friend and
retired disabled builder, has volunteered to help supervise the building
crew, give direction and advice for measurements, building materials
and contractors estimates. Some other men and women in the community
have volunteered also to help with labor. This a grassroots movement,
needing the involvement of the community and as much help as I can get. I
will be posting pictures of the house everywhere as it is being built
for everyone to see what their donations have helped
accomplished.Disabled-World has got the ball rolling with a contribution
of $500 and would like to see other businesses and individuals do the
same.

I would like to say a special thanks to Ian Langtree, the creator
of Disabled-World.com and to:
My doctors who helped save my life
Paul Maples
Scott Portwood, gone but never forgotten
and my Mom

To donate use the button at http://penelopesdisabledblog.blogspot.com/ or email me at: Ced936@aol.com