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My Porphyria Story - written by Penelope B.

Posted Jun 13 2010 9:35am

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 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 or email me at:
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