Acute Intermittent Porphyria (AIP)
When I was a child, very often, my legs end knees hurts so much that I couldn’t run and play with other children. It went on in my teens and for all my life. Doctors never explained those pains. They thought I suffered from rheumatoid arthritis but the tests never assured that. When I was 9 years old, after a deep emotional chock, I became very ill with nausea and vomiting and very hard pain in my abdomen. At 12, I suffered from violent pains in my legs and knees, and I couldn’t walk for 3 months, because, my legs had strength. I saw countless doctors and lived in bed a great deal. I also had some eruptions in my face during the puberty, which the doctors thought was acne at that time. This cycle occurred over and over.
Now, sometimes, I can’t walk. It’s very hard to wake up in the morning. It’s very hard to stay up and with the help of the walls, I can get to the kitchen and after eating breakfast I get back in the bed again and only after 2 hours I can stand up, get my shower-bath and finally dress myself. It doesn’t happen always. Sometimes I’m normal.
When I was 18, after mother’s death, the severe abdominal pains came again, with nausea and vomiting, but I could walk and I resist because I must care for my father. We moved to Lisbon, because he needed the cares of the Cancer Institute. I was suffering a lot, too. After lab tests, I was told that my problem was caused by a lazy gall-bladder and a nervous colitis. My mother always suffered from nervous colitis. She died after they gave her two injections of a barbiturate drugs. After stopping my vomiting, the doctor prescribed a lot of vitamins, and magnesium and my pains stopped, and I was ME again, plenty of energy and activity.
I got married at 20 and at the age of 23, I got pregnant. I was happy with my son, but my marriage dissolved and I began to be very sickly. Almost every week I got influenza, and became very tired and got anaemia. I had a bad cough. Finally, I couldn’t work any more, and I had to stay at home because my strength left me. At first, doctors thought I had tuberculosis, but tests became negative. After lots of doctors, a friend who worked with me took me, by special favour, to a famous professor doctor. Yes, it’s true. Here in Portugal, to be consulted by a famous professor it’s very difficult because we must wait for a long time. Sometimes more than one year. The best way is to know somebody who knows him; otherwise, it’s a matter of chance. After observing me, I had also abdominal pains, nausea and vomiting, my abdomen was also swelled up, and after my tests and as I was anaemic he asked me to do a special test made in bone marrow to see if I had leukemia. My body didn’t wait for results, because in two days, on the evening the pains became very severe. I got a chemist’s shop to by some pills for the hard pains, because, meanwhile, my cycle came. I took two pills for pains and other two pills 4 hours later, but the pains were more and more severe.
When I was well, I always worked a lot, spending lots of nights working, and I could do it very well. If I feel happy, everything goes on. However, when I was 38, I became serious ill again and at 41, I suffered a car accident. Another vehicle collided in the back of my car. I didn’t go to the hospital because I was conscientious and it was 4 o’clock a.m. I was coming home from my job, and my son was alone at home. When I got home, I stayed for a long time in warm water for relaxation but I saw that one side of my face was black because my had hit the steering-wheal. At 8 a.m. the doctor who saw me wrote a letter and sent me to a hospital. I went through much illness thereafter until I finally became ME again.
Then at 45, a lot of convulsions happened at my work. The life for me was very hard because envy and wickedness knock my door. My pains became severe, sometimes I couldn’t get the job, but after a lot of tests, doctors didn’t find anything. One doctor sent me to a psychiatrist and I began my psychiatric life. The things he prescribed me put me worse, so I decided to help myself.
The next year, I was again given another big project, but, again I began feeling very badly, but I kept on because I didn’t want in the world to get sick. At the end, my manager call me and ask me what was wrong with me because he saw very well that I was not very good. He sent me immediately to the medical centre at the work, but there was a problem with me. A lot of lab tests and I was very anaemic and she diagnose me a myoma and prescribed me lot of estrogens and iron for the anaemia, and again I must stay at home in the bed. Every fifteen days, I went to the lab to test the number of my blood cells. I became more and more serious ill. I told the doctor about my serious abdomen pains and nausea, so she asked for a lot of lab tests. I became sicker and sicker and more and more confused. At 22 August, I went in emergency to the hospital because I swooned and had a hypoglycaemic coma. I was about two days in the intensive cares and then I was awake. When I saw the hospital where I was, I wanted to run away. When I became conscious and they took me to the Recovery Care, I began convincing my son to take me away because I thought they would kill me and give the wrong medications as I had had so many other times. I was right. I was not able to walk again.
I was again sent to the worker’s medical centre, Everything was ok but the unsafe medications again.
Two days later, I thought it was another hypoglycaemia attack and I took a lot of honey, but I became unconscious, and the convulsions came again, too. I got better and went home, but in no time, I was very confused and very tired. I couldn’t sleep any more because the nausea and vomiting began. This cycle of severe illness went on and on until I found another doctor and said ”If I am paranoiac or hypochondriac please prescribe me something because nowadays I think that there are good drugs to heal these. Otherwise I will be completely crazy if I live with such pains, nausea and vomiting. I will pay what is necessary but please help me and study my case”.
After one hour of talking, remembering my past episodes, the doctor told me: I think you have something related with enzymes, but I can’t remember the name. He told it was the disease of King George VII of England, and the brother of our last king of Portugal had the same. I was praying very deeply in my heart asking Jesus to enlighten my doctor’s brain. Suddenly, he stood up and took a book from the bookcase and opened it and he told: Oh yes this is Porphyria. See I opened the book at random and I just opened it in the exact page. It was a very large book, and in the bookcase, there were two other similar books. I think it’s something like a disease encyclopaedia, and he went on talking: It’s not my area and my knowledge is very limited. I only study this because of prescriptions. I think in Portugal we are very limited but I’m going to send you to a very good and studious professor who will be able to study your case and help you. I think here in Portugal we don’t have resources in that area.
On January 31, I went to the eminent Professor Fernando Ramalho, professor at Medical School of Lisbon from Hospital Santa Maria. He asked me about my case asked for blood tests and urine tests and told me what lab to go because even University Hospital labs doesn’t do those tests. I only have the results on February 16, but on that day, I spent the night in hospital because I was working in computer in the evening and suddenly a hypoglycaemia arrives without knocking my door. I got the kitchen and by the way I think I became unconscious sometimes but I could take some honey and I got cereal bread to eat. I know that I was not very well and I got the room and stay in bed. I remember to see my face in a mirror and it was white death. I call my son but he didn’t hear the phone. As I didn’t feel better at home I asked for an ambulance that took me to a particular hospital. It was the first time I got that particular hospital in the night. At first they don’t want to receive me, but after they recognize me, I was accepted in OS service. I advised that probably I had porphyria and to pay attention what drugs they will give me. They put me at physiological saline in vein and gave me other things for nausea and vomiting that come again because of the way to the hospital, the ambulance was a very old car similar to those we saw in some cartoons. I stay all night with oxygen in that Purgatory place, but in the morning I want to go away. They asked me all of the usual things I did before: blood tests, X-ray to abdomen, and I couldn’t stand up because my legs were very weak. They seem to be surprised and I told them that I’m always like that in the morning. Only after two hours of taking a good breakfast with some bread and jam I could stand up and walk OK. They wanted to send me to other tests and I implore a doctor who came by me to let me go away because Prof. Fernando Ramalho was waiting for me. I could saw by doctor’s expression that Professor’s name was a very sounding one. Really it was true, but only at 7 p.m. Well I leave the hospital at a half past midday.
In the evening professor confirms that I have porphyria, AIP but he thought there’s perhaps another type of porphyria. He was very surprised about the severe attacks of hypoglycaemia because I told him before about my glucose breaking but he didn’t notice the severity of them. Then he asked me to write my entire clinical story but he told me as I have contacts at Joaquim Chaves’s Clinic, the clinic where I did the blood and urine tests for porphyria, what place to go for specialized tests and genetic one’s and go there for assistance. He also sent me to another endocrinologist professor and now I am again waiting for the results of a other lab tests. I did everything he asked me, the clinical story in Portuguese and contact with genetic Doctor from that Clinic that works in a research institute who told me that in Europe they don’t have the integer prototyping of the gene of porphyria, only in USA and there, only in a few labs. He advised me to contact someone via internet in USA. I sent by e-mail to Prof. Fernando Ramalho all the things I knew, including my clinical story in Portuguese.
Now I can’t walk without stick and very slowly, and if I do something in one day, the next two days I must stay in bed because the nauseas become again and my abdominal pains. But they are much better than before. I can’t eat meat, it was something that when I was baby and till 5 years was a problem to eat. I don’t eat it since a long time ago because I don’t feel very well. Now almost everything goes wrong with me. I eat large amount of soup made from mashed potatoes with lots of carrots, with onion. Boiled apples with lots of sugar and toasted bred with jam and tea. I need to eat large amounts of sweet things.
What I wrote were the more important episodes. There were many others but as they only stay for a few days I can’t tell every of them. The episodes I lived, a lot of them, sometimes make laugh when I remember them because they could be good matters for cartoons or for comic films. Being alive after all the soap operas lived is only by the grace of GOD. I’m very thanked to HIM for the intuition HE gave me and for all the times I leave hospitals and I didn’t allow surgeries they want me to do, like removing the appendix and even removing the spleen. Thank Lord Jesus for defending me so well.
I resume my story and don’t think that I’m a very unhappy and poor lady, because it’s not true. I’m happy because on my journey God gave me the chance to know HIM. It was because of car accident, I met Jesus and Our Lady Mary, and even when I didn’t know Them, They know me and THEY were always with me.
THANKS LORD JESUS. Nothing is mine in this world and I live here to serve YOU but I don’t know to do it. Please HELP all of us here in the earth how to do it because we need YOU.
Rosa de Freitas