This is Penelope's story, (verified by Disabled World), in her own words.
My name is Penelope. I'm twenty-seven years old and I have a rare blood disorder called (AIP)Acute Intermittent Porphyria. It's one 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. 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 sensetive disorder, porphyria is activated by certain triggers. These triggers include smoking, alcohol, stress, infections, injuries, chemicals, fasting and dieting, and some medicines. When it is activated, porphyrins accumulate in the blood causing severe, bizarre symptoms during acute attacks. Symptoms of the acute attacks include pain in the chest, abdomen, limbs and back; muscle numbness, hyponatremia, cramping, vomiting, ileus, seizures, tingling, paralysis and personality changes. Attacks can last for days to even years. Excessive porphyrins in your liver and kidneys can lead to severe liver and kidney damage that may eventually require a transplant.
These porphyrins 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, injuries, hormones and different contraindicated medicines, activated my porphyria. I had attacks, we just didn't know thats what they were. My attacks were not severe and I would finally recuperate with time.
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 and I was having intense lower belly pain and bad thigh and back pain, along with 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 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 laparascopic 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 went 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 stepdad 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 stepdad 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 stepdad 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 stepdad 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 stepdad 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 relunctantly 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 and he was convinced right then and there that thats what I had too. 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, the only place in the United States that did the test results for porphyria at the time. He also took me off of all medication they had been giving me as he discovered that everything I was being given was on the list of what not to give someone with porphyria. 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 symptoms and they were 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 unrelated tests on me while I was having this attack, and it made me worse. My whole body was being affected by this prolonged untreated attack at the time. Even my eyes hurt when I would look at people and at times I couldn't stand the activity around me. I had severe nausea and vomiting and insomnia because of the pain. It's hard to describe the agony I was in, I felt like I was dying. I came very close to start having seizures again. He didn't treat me for porphyria and he made it very difficult for my mother 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. The next doctor they assigned to my case was a pulmonologist. He and his interns researched AIP and found out that there is no cure and only one very expensive and controversial treatment; 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 donated to me. While we were waiting for the heme to arrive, they had 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, prevention and careful, prompt treatment of infections or illness that may have caused the symptoms. Finally, I was starting to get the treatment I needed to save my life.
I got my heme treatments, which looked like thick, greenish-black swamp water, and we could tell that I improved slightly. I was able to rest, I was vomiting less and my pain started to come down slowly and enough it could be controlled with a scheduled oral dosage, like the porphyria literature said it would. My seizures went away completely, but I soon learned, that as a result of this severe attack, my liver is malformed and I sustained kidney and nerve damage. It was possible it would take years 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. 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 thought 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. I have severe chronic pain, hypertension, peripheral neuropathy and muscle weakness and when I'm not in bed, I need my wheelchair to get around. This was the time that I had to fight for SSI. I couldn't work and had astronomical hospital bills. 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 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, but I had phlebitis in both arms due to the treatments so I can't get anymore treatments for a while. Heme treatments actually work better for prevention of acute attacks and not treatment for after you've had one, but they helped save my life. My body heals poorly because of the AIP so I have to watch out for infections, colds and flus, porphyrics can't take most antibiotics.
After I became disabled, my mom and stepdad divorced after nineteen years of marriage and the land our trailer was sitting on was sold. Me and mom actually became homeless. It was just me and her. We lived in hotel rooms and out of our van until we could find another place to live. We are now living in a borrowed travel trailer on land we are slowly buying. While we appreciate the use of this trailer, it is too small for me to be able to use my wheelchair. We had planned to build a modest 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 so sick 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 retired disabled builder, has volunteered his services to supervise the building crew, give direction and advice for measurements, building materials and contractors estimates. Scott Portwood, a local businessman, has donated some lumber and has agreed to be an officer over the Penelope's House Fund account that the donations will be put into. Some other men and women in the community have volunteered also to help with labor. This a grassroots home makeover. I will be posting pictures of the house as it is being built for everyone to see what their donations have helped accomplished.
I would like to say a special thanks to Ian Langtree, the creator of Disabled-World.com and to:
and my mom!