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Acute Intermittent Porphyria (AIP)
My story is not unique in the pain and suffering, shame, loneliness, agony, and the painstaking persistence needed to find answers to what is going on in my body and what I can do about it. I have Acute Intermittent Porphyria. I was diagnosed in December of 2018 on a fluke. The doctor said "It probably isn't that, but we will run the test anyways". This was years after trudging to many different specialists and undergoing all their tests. They would all promise at the start to figure out what was going on and get me help, just to have their tests all come back normal and for them to tell me I was fine, or it was all in my head. Each one gave up on me and suggested yet a new specialist to try next.
I had been holding out hope that once we figured out what was wrong, we would be able to find a way to fix it and I could move on with my life. I had been married for only a few years and had given birth to our daughter 7 months before the diagnosis. The words "incurable" and "progressive disease" were terrifying to hear and seemed like an end to my hopes and dreams for mine and my family's future. The horrible abdominal pain, the shooting pains down my limbs that caused me to lose use of them for days at a time, the vomiting any time I dared move too much, the brain fog that caused it hard to be able to concentrate and function, these were to be companions I was not going to be able to get rid of.
My despair was made worse by a new struggle, trying to find a doctor in my area that had any knowledge of the illness and was able to help treat it. My family and I spent hours each day looking up doctor's that had porphyria listed as an illness they treated to find out it was not something they had ever seen before, let alone knew what it was off-hand. Finally, a doctor at the University of Kansas took me on, offering to learn the illness along-side me. It wasn't what I had hoped for, but it was more than I had. Almost a year after being diagnosed, I was able to start treatment with panhematin. Since KU is a teaching hospital, I was passed around to all the nurses in the treatment center so that they could learn how to give Panhematin and ask me questions so they could learn about AIP. At that time, I was their only porphyria patient. I had to be my own expert to make sure the medicine was given correctly, protected from the light, and delivered in a certain time period. The nurses were all very friendly and caring, but being the guinea pig to be learned on made me feel apprehensive to say the least.
Like most porphyria patients, I found that trips to the Emergency Room during attacks proved to be useless. Either I would be kept waiting because I was deemed to be a pain medicine seeker, even when I went in asking for a glucose drip, or the doctors didn't know what porphyria was and it took hours before they even started a glucose drip and then sent me home to follow-up with my porphyria doctor because Panhematin is not stocked in the hospitals. I learned quickly that I could take better care of myself in the comfort of my own home with pasta for carbohydrates, juices and pops for sugars, and hot baths and a little bit of pain medicine to take the edge off the pain so I could push through these attacks as best as I could.
After only seeing some slight improvement with the Panhematin, we learned about a new drug that was being called a "Miracle Drug", Givosiran also known as Givlaari. They said in a 6 month study, AHP patients on average saw a reduction or their attacks by 70%! This sounded like the miracle I had been praying for. I started taking Givlaari. 6 months in I didn't see any improvements, and was told that some patients took a year to see improvements. A year in, no real improvements. I kept this treatment up for a year and a half with no real improvement, but very real side-effects. With the treatment I was having full body itch that was unbearable. I was taking antihistamines daily, doubling up days before the treatment and days after and having medicines by IV day of treatment. I was still waking up with blood in my bed and chunks of skin under my fingernails from clawing myself at night. The answer to this was several rounds of prednisone. With such side-effects and not much improvement, we decided it was time to look for some different options of care.
Meanwhile, I was told I had to quit working, which made sense because I was too sick. By the time I drove myself to work, I was throwing up for an hour, and then the abdominal pains set in and I would be on the floor of my office for hours. My parents would have to come and collect me and my car and drive me back home where I would take care of myself with my arsenal of medications, carbohydrates, sugars, and soaking in baths. It isn't uncommon for me to have pixie-sticks in my purse for just these occasions. I was lucky in being able to get onto disability, a program I whole-heartedly support, but never imagined I would need to make use of.
The news over time wasn't getting better. I was told that with my fast progression, they anticipated an event that would be fatal within the next couple of years. At this point I was using a cane a good chunk of the time, throwing-up upon waking and continuous through the day, and bedridden more than I would like to admit. My husband was making plans to put in an elevator, stair lifts, and hospital equipment to help me get in and out of bed. We started to look for any options we hadn't explored yet. I was told that there was not much else that could be done for me except looking into a liver transplant. This was our Hail Mary. We started looking at KU for the transplant, but we were told that there was no way I was ever going to get high enough on the donor transplant waiting list to get a liver and they didn't do living donor transplants even if I could find a donor.
We did a lot of research and found the University of Pittsburgh Medical Center in Pittsburgh, Pennsylvania. My mother and I flew out for an evaluation. In the meetings with the liver transplant team they told me that they couldn't promise anything, asking if I was to get no relief but be able to halt it where it was, would I want to go forward with the transplant. The answer was of course, I had to try something. I visited ,via zoom with their Porphyria expert out there, and he was intelligent, patient, and calming. He explained that the data that they had from other porphyria patients around the world that had undergone a liver transplant was very encouraging. He used the word curative, which was the only thing that bothered me at the time, knowing the illness is not able to be cured. I was told that they had done another porphyria patient around 10 years prior to me and that they had taken the new liver well. I was accepted into UPMC's transplant patient program and put on the donor list. Knowing to get this done I needed to find my own donor, we started the search for a match.
Luckily I didn't have to search for long. My sister was tested and was a match, even though her results came back with a mutation that was listed as "likely benign". This made us concerned and we wanted to make sure we understood what that classification meant and if it was safe to proceed with the transplant. In our search we were connected with a Geneticist in Mount Sinai in New York. He helped us understand that the "likely benign" classification should be viewed as if nothing is wrong, that there was a mutation, but that it wasn't one that would cause issues. We were green lighted to go, or so we thought. We had anticipated doing the transplant over the summer when it was better for my sister's work schedule, but once you start looking at a liver transplant, the experts come out of the woodwork and they all have their own opinions. Some thought I should go ahead with the transplant, others thought there were other regiments with either the Givlaari or Panhematin I should give a try before going to the extent of the liver transplant. In the end we put the transplant on hold so I could explore some of these options to make sure we had tried everything we could. I started taking Panhematin twice a week and Givlaari once a month. As I was getting very ill trying this, it was decided to drop the Givlaari and strictly do the Panhematin. I was still needing time between each round to recuperate, so we ended up dropping the treatments to once a week. No matter what regiments we tried, my attacks were not coming under control. It was time we thought more about scheduling the liver transplant again.
It was during this time that we set up a series of meetings with one of UPMC's Porphyria experts to discuss our remaining lists of questions. It was during one of these meetings he let it be known that the geneticist we had discussed my sister's DNA mutation category with had taken it upon himself to call UPMC and discuss with my doctors his thoughts that I needed to just try more rounds of treatments. This overstepping of boundaries left me and my family speechless. I can't express how violated that made me feel. I was already struggling with the illness, the worry for myself and my sister if we did the transplant, wondering if it was the right decision or not, and then to be under-minded was a gut punch. Luckly, the doctors at UPMC did think I was a great candidate, and the fact I had a donor lined up was a major plus. We set a date for the start of January 2023 for the liver transplant to take place.
As the time neared, my family set up a condo for us all to stay at so we could support and take care of eachother. A couple of days before the transplant we all loaded up our vehicles with everything we would need for the long trip and started the 13 hour drive from Kansas to Pennsylvania. Finally the day was upon us, the nerves were high and I admit I was crying most of the time before they knocked me out. My sister told me she thought I was going to back out because I kept telling her over and over again she could back out at any time and I would not blame her. She has her own young child and I love her and her family so much, it hurt to think of anything happening to her while she was doing this amazing thing for me. As I was wheeled in, put on the operating table, and the procedure was beginning, I almost did back out, but the anesthesia took me under before I could get the words out. Thank God, the procedure was done 10 hours later, and some time after that I was conscious enough to understand that all had gone well and my sister was recovering just fine.
The first night in the ICU I was sore, of course, but I was telling anybody who would listen that the pain of the surgery was nothing compared to the pain of the porphyria attacks. That night, a nurse told me that they needed to change the bedsheet on my bed. She turned around to get the sheets and I took that time to stand up. When she turned around, she was so shocked to see me standing that she loudly asked "What are you doing?". I said I was standing so the sheets could be changed and she kinda laughed and told me she has never seen anybody be able to stand after a transplant. I asked if I was supposed to sit down and she said if I felt steady enough to stand to go ahead. I took the time she was changing the sheet to go over to the little sink and brush my teeth. She was so surprised by the events, I heard her telling other nurses about it in the hall when she left the room. The next day, I was traipsing up and down the hall walking, still confident that the porphyria pains were way worse than the surgery pains. Unfortunately, later that day I had the opportunity to have an attack and scare the living daylights out of those same nurses that had been monitoring me with awe. As the tears fell down my face and I was clutching my sides and my abdomen, they raced to get me pain medicines and to google porphyria so they could better understand what I was going through. Later that day, I was transported to the general recovery floor out of the ICU. I asked them to take a sample of my urine to run the porphyrin test on it to see what the PBG readings were. This was not the best sample, as it was mixed with urine from before the attack, as all the urine was being collected to see the output. On top of that, the sample was left out overnight, unprotected from light, and just sat on a counter, waiting for the doctor to okay the test in the morning. He did allow the test and the results came back saying it was mildly elevated and "mild elevation of PBG is uncertain. However, it has been found in quiescent phases of acute intermittent porphyria (AIP)..." For it to still be elevated after all the other factors that deteriorate the PBGs over time, I believe it was very clear that I had an active attack. Little did I know that proving that I was still having active attacks would become one of my new fights in my journey to try to get better.
The liver teams for both myself and my sister were extremely happy with our progress and had let us leave the hospital within a matter of days and we both were headed home within 10 days of the surgery. The frustrating part was that there was still no clue as to why I was still having attacks right after the surgery. The medications that were picked for me from the transplant team was based on what was safe for a porphyria patient to use. The only person who was still using the word "curative" in relation to the surgery and porphyria was the porphyria expert at the hospital. In a subsequent tele-health meeting with this doctor, I was told that if I was having active attacks that the transplant would have to be listed as a failure. He said he didn't believe I was still having active attacks because my elevated PBGs were lower than they were before the transplant and were closer to normal levels than ever before. Gone was his telling me that my PBG levels would be a 0. He told me there was nothing he could do for me and referred me back to my porphyria doctor back home in Kansas City, and that he would call my doctor and speak with him. This was confusing and hurtful as I WAS having active attacks, they saw the elevated PBG levels that only happened when I had an attack. When not in an attack they were normal. My doctor in Kansas City, after speaking with the Pennsylvania doctor, refused to try treatments of panhematin. He also refused to refill my medications such as my nausea and pain medication. I did talk him into letting me do urine samples after some of my attacks to see what my PBG levels were. Although they were lower than before the transplant, they continued to show that they were elevated after attacks. This didn't seem to be enough proof. My doctor told me I needed to start seeing all the specialists I had seen before getting diagnosed with AIP so I could rule out any other illness. I have started this process and fear it will take years again to get through all the specialists and all their tests that so far, are all coming back as normal again. Even though the transplant has helped with reducing the amount of attacks I have and the severity of them, I feel like doing the transplant has put me back at square one in some regards, with the doctors telling me I am not experiencing what I am. It all feels like they are saying it is in my head again. I am mad, I am depressed, but I am determined to prove what is happening and get the help I need.
In a recent attack, I experienced temporary paralysis of my left leg. I couldn't move it at all for an entire night and it took two days before I fully had use of it again. I was in bed, reading and noticed my toes were at weird angles and I tried to straighten them, that is when I became aware I couldn't move them, my ankle, bend my knee, or lift my leg at all. My husband, knowing I am very ticklish, thought it would be funny and decided to tickle the bottom of my feet. I had feeling in my foot, but was not able to move it to get him to stop. I threatened him that I could still use my right leg and I would kick him with it if he didn't stop. This was a scary experience, and only my second experience with temporary paralysis. I can't complain as I know many others experience much more extensive and scarier paralysis than that. I pray for those with those experiences and I thank God I don't know that level of fear yet.
Once again, trying to figure out what was going on with my body, I was connected with a neurologist in Alabama by a zoom meeting. In this one hour zoom meeting he was extremely caring, knowledgeable, and helpful. What I took away from the meeting is that it is not unheard of after a liver transplant of a porphyria patient to have attacks that show lower PBG levels afterward. The liver is making it show as lower, like Givlaari makes the PBG levels show up as lower but people are still having attacks- plenty of studies prove this to be true, but the fact that it is elevated at all is a sign that there are active attacks. He suggested that I needed to do some neurological tests due to the attacks I was having with the temporary paralysis, he thinks I will find that I have some neuropathy. If this proves to be the case, then the way to treat my attacks are going to be different. The treatment may be different, but this shouldn't be ignored. I have started the process of getting those suggested tests done.
Fed up with the lack of care I have been receiving from my porphyria doctor in Kansas City and some circumstances changing to open up new possibilities, I have been seen by a new porphyria doctor in Lees Summit, MO. He has seen porphyria in his residency and has several porphyria patients with different types. He is very knowledgeable and takes action to get help for me when needed. After a 15 minute conversation he agreed I needed Panhematin and set the first round up, which I have since taken. The day of the treatment I wasn't feeling the best, I typically take about a day to recuperate, but the next few days and counting I have felt more like a person with more energy and ability to interact with my family and live closer to a normal life than I have been able to do in a long while. With this new doctor in my corner, I have high hopes of finding a game plan that allows me to be as close to a normal person as I can get.
I have an amazing support group, if my sister giving up 65% of her liver and her willingness to go through all the pain and suffering associated with the liver transplant wasn't enough to prove this point, I don't know what is. I am so blessed to be able to say this! With the help and support of my family I have been able to get through life, a liver transplant, and all the frustrating twists and turns this journey has thrown my way so far. I share my story in the hope that something I have said resonates with somebody about to give up and inspires them to keep fighting. We face a lot of disappointments and have to fight for ourselves when we should not have to fight at all for care, but we are worth it, always! Listen to yourself, even when doctors may not, and push to find the right fit and care for you. And always remember, there is a whole community of people going through similar dilemmas, we are here to listen and help in any way we can, you are not alone!
