Acute Intermittent Porphyria (AIP)
My name is Jennifer. I am 25 years old and I have Acute Intermittent Porphyria. This is my journey to finding a diagnosis.
My journey started when I was 18 years old. I started having severe abdominal pain when I was a senior in high school. I would wake up with a sharp knot like pains in the upper portion of my abdomen. I had tried a heating pad, over the counter medicine for pain and relaxing in a warm bath; nothing would help make the pain go away. Every time that I would eat it would make everything hurt even worse than it already was, and it would also make me throw up. So, I would have to leave school to go to the hospital, because the pain had gotten severe. There were days where I would feel good my stomach wouldn’t hurt and I could eat. Randomly my stomach would begin to hurt. I wish so tired of throwing up and constantly being in pain. I didn’t know what to do or how to even try to make myself feel better because it seemed like no matter what I tried, or did it was like nothing helps. So, I go to the emergency room to get medicine and tried to find out what was wrong. Every time the doctors would tell me that it is just inflammatory bowels and send me home. For the next 3 years, I was in and out of hospitals and doctor offices trying to find out what was wrong. I saw all kinds of doctors and none of them could tell me what was wrong. All my blood tests, X-Rays, CT scans, endoscopy, and colonoscopy came back normal except for having an ulcer from throwing up so much. I began to give up I didn’t think I was ever going to know what was wrong. I felt like no one believes me when I said something wasn’t right. I felt alone and scared because it was just me and no one could help me with the pain and figuring out what was happening with my body. But no matter what the doctors would tell me I continue to go to more doctors and continue to get more tests done because I knew something was right and I was determined to find out what it was. Then I went to the gastroenterologist I said that it sounds like a have gastroparesis and they put me in a study trial to see if it would make me feel better. I had to go over to the clinic and eat a meal to see how fast my stomach with digesting my food. I was already having a hard time eating so when they had my get a meal it makes me feel even worse. I didn’t think that I was going to be able to keep it down. They had told me that if I would throw it up that I would have to start all over again. So, I had to wait there for almost two hours. At the end of the two hours, I had to blow into the straw so they could test the air to see how fast my food had digested. It showed that there was a little bit of a delay, so they put me in the trial, I only got only one of the medicines from them, because it had made my symptoms even worse than they were before. When I took the medicine, I had to wait a few hours and come back to the office. I had felt fine when I left to go home for a little bit but by the time I could even make it stop and eat on the way home I had started to feel my stomach being torn up. So, I couldn’t even make it back home I had to stop over at my grandparents’ house to go to the restroom. I had run inside I barely even made it to the restroom before I was throwing up. I continue to throw up over and over while I waited to go back to the doctor’s office. Finally, it was time for me to go back so I got into the car and headed that way. I was trying not to throw up all way down the road and as soon as I got there I couldn’t hold it in anymore but I could even make it out of my car in time before I had threw up all over myself. Since the medicine made everything worse than what it was, I was no longer able to be in the trial. When the trial didn’t work, they decided to take my gallbladder out, even though the test showed that it was normal. They said maybe there was something on the test that they couldn’t see. So, I had my gallbladder taken out and, it had help for almost a year. After a year I had started having even more severe pain and throwing up every time I ate anything. It was a lot worse than it had been for all those years. I ended up right back to the gastroenterologist's office once again. This time when I had returned, I couldn’t even eat, and it didn’t matter what it was or how much I ate at a time. It would come right back up. The pain was so severe that I would miss work a good bit and when I was there, I would be in the restroom throwing up all the time especially after I ate lunch. The smell of food or even the thought of food would make me sick. Everyone at work thought maybe I was pregnant, so they had me do a test to make sure, but I wasn’t pregnant, so everyone began to worry even more. For months I continue to work through the pain and throwing up nonstop every day. Even though as soon as I would eat, I would have to run to the restroom to the throw-up. I got to a point that I didn’t want to eat at all I would have rather starved because every time the food would make my stomach hurt more. I had no energy I only wanted to sleep, I had to force myself to go to work every day. Finally, after everything kept coming back normal the gastroenterologist tested me for rare disorders and rare diseases just to rule them out. That is when we found out that I have porphyria. I was so relieved to finally know what is wrong with me. I had felt relief because I was beginning to feel like the doctor was going to think I was crazy or making everything up. After all, he couldn’t find anything wrong with me. I was also scared because I didn’t know what porphyria was and the gastroenterologist that I was seeing didn’t know too much about it either. So, he was going to have to research it for me. I had even gone home that day and did my research to figure out what it was. Initially, we didn’t know what type of porphyria, just that I had it. So, he did some research to try and find an expert on porphyria to help me. That’s when we found Dr. Bonkovsky in Winston-Salem, NC. I scheduled an appointment with him to find out what type of porphyria I had, and what help was available. When I saw him, I learned that I have Acute Intermittent Porphyria. I was then admitted into the hospital to have a port put in and to start receiving panhematin for the next week. After that week I started receiving pan hematin every Monday for the next several months. I could tell that the pan hematin was helping me. The pain wasn’t as bad even though it would make me feel even sicker to my stomach on the day, I would receive the medicine. I would feel better for the rest of the week. A few months after I started receiving pan hematin I started to have a difficult time breathing and I had sharp pains in my back near my ribs. I didn’t know what it was, so I thought maybe it was a kidney stone, so I went to the urologist to have a CT scan to see. The CT scan didn’t show a kidney stone but the said it looks like I might have pneumonia and sent me home. I got to think about what they said, and it didn’t make sense to me since I haven’t been sick with a cold. So, I called my doctor to ask them what it sounded like and they said maybe a broke my ribs, which also didn’t make sense to me because I haven’t done anything to break them. So, then I headed to urgent care and that is when they sent me over to the internal medicine office next door. They decided that the wanted to do another CT scan with contrast to rule out pulmonary embolisms. We then found out that both of my lungs were filled with blood clots. I had to go on Eliquis right away. So, I stop taking the pan hematin just in case that was causing them because we had no idea why all of a sudden, I had blood clots. Once I couldn’t do the pan hematin anymore I was then put in the study trial for Acute Intermittent Porphyria. When I started the study trial drug I had barely any quality of life. I was out of work on disability and still having multiple attacks. I spent a lot of days crying and wishing that everything was over. I didn’t want to live anymore, I was tired of fighting, I was tired of the pain. I would just sit in a dark house. I didn’t want to go out or spend time with friends or family. If it wasn’t for the support of my husband helping me through it every day and being by my side through this all and also Dee Faust for being in my corner cheering me on and crying with me at visit telling me I’m strong and that I can do this. That she was there no matter what it was or anytime. Showing me songs to listen to relax and giving it all to God. If it wasn’t for my husband and her, I don’t know if I would have even been here today, I tell my story. There were even days I didn’t understand why this was happening to me. I was angry at the world and I was angry at God for making me sick. I couldn’t figure out why he would do this to me. I began to think about how God doesn’t give us more than we can handle and that there is a reason for everything that happens in our life. Once I started the Givosiran trail it started to help, I wasn’t having as many attacks as I was at the beginning. Eventually, I went to have no attacks at all. I was feeling much better. I was starting to have a life again. It saved my life. Then almost a year later after I had my first blood clot I was rushed back to the hospital because my left lung hurt so severely. I had wakened up feeling like I had a cold. I couldn’t even lay down flat without it hurting even more. Then all I sudden I ran to the restroom coughing so bad I thought it was going to make my throw up but instead I started coughing up blood. So, I screamed for my husband to hurry and rush me to the emergency room because I couldn’t breathe and coughing up blood and having severe chest pains. When I got there, I found out I had another blood clot but this time it was so huge. I was then put in ICU because I barely had a left lung that worked. Not only did I have a blood clot, but I also had pneumonia in the same lung, and I was also septic. We still didn’t know what was causing the blood clots because it was the pan hematin and I tested negative for all clotting disorders and it was any other the medicine I was receiving for the porphyria. When I got out and went for my follow up appointment, I had found out that it was worse than I had thought. They told me it was a miracle that I walked out of the hospital because my body was shutting down. I started to go into kidney failure and was one point away from a blood transfusion. Ever since I got out of the hospital I felt better, and I was able to go back to work. I can’t explain how I went from being out of work for a little over a year to my death bed to back to work and feeling a ton better than I had before. But Here I am today alive. God let me live through all the trouble and pain and struggling to make it for a reason. I don’t know what that reason is but to me it might be so I can tell my story and to help others.