Acute Intermittent Porphyria (AIP)
My name is Nicole. I live in Sarasota, FL, with my fiancé Mike and our dogs Mila and Laszlo. I’m originally from Chicago but moved to Florida in 2017 and love it here!
Regarding my health journey, before my diagnosis, people described me as a firecracker. I was an honors student, a pilot, a world-class skating athlete, an entrepreneur, and an outgoing person. I loved to travel and explore and just embraced life. However, after developing debilitating symptoms soon after college, I became a shadow of my former self. Porphyria left me fighting for my life, and the worst part was that no one could figure out why.
I battled these symptoms for over 12 years until I was finally diagnosed with acute intermittent porphyria (AIP), a rare genetic disease. I had many life-threatening attacks, almost dying three times. I was so sick that I had to close my successful business, which made me feel like a failure, and I felt like I had let my employees down. I have always been a very motivated person. Owning my own business was a dream come true, and then I had to let it go. After facing death, that was the next devasting blow. The most painful hit had yet to come.
Now that I know what attacks are, I realize I had had two attacks, one as a teen and one in college, and both put me in the hospital. But it started in earnest after college. In skating pairs with my brother, I took many hard falls in skating from eight feet in the air onto concrete, wood, and ice at full speed, breaking many bones and tons of physical therapy along the way. I thought I knew what pain was, but little did I know how wrong I was.
I had just graduated from college and started my own business. Things were going great until I was walking my dog one day. Suddenly, out of the blue, this excruciating abdominal pain came crashing down like lightning, laying me flat on the ground. I could not walk, so I had to crawl to the side of the road, and I collapsed into a field. I was lying on my back, staring at the sky, holding onto my dog’s leash. The pain was so bad that I literally thought, “This is it; I’m dying.” I was in horror at that realization and that if I died, my dog would run into the busy street and possibly get hit by a car.
The acute attacks continued with abdominal pain, vomiting, nausea, constipation, and back, neck, and chest pain. Sometimes, it hurt to breathe, and I felt like I was getting stabbed in my chest. I had extreme weakness to the point where I couldn’t walk for a long time and needed a wheelchair — I even needed someone to help carry me to the bathroom. There were times I was paralyzed and couldn't move; that was extremely scary. Before I was so weak that I was in a wheelchair, my legs felt like heavy blocks of concrete to move. That is such a strange feeling; I could feel the extreme weight, and walking was difficult. I also had trouble concentrating enough to be coherent and interact in regular conversations. I would try as hard as I could to focus, but I just couldn’t do it. It was exhausting. I would try to talk to my mom, and it was like I slipped out of consciousness, but I was still awake. I was also hallucinating. I thought I was talking to my brother in the hospital right there, sitting on my hospital bed, but he wasn’t there. It was so real to me; I was certain I was talking to him and was in complete disbelief when my mom said he wasn’t there. I thought she misunderstood and said she must have missed him and maybe he was in the cafeteria. I vaguely remember the confusion and fear on her face as she assured me he was not there. The hallucinations only happened when I was really sick. Sometimes there were scary images I would see, and it felt so real.
I spent more than the next 12 years in and out of hospitals searching for a diagnosis and saw many different doctors: gynecologists, gastroenterologists, endocrinologists, neurologists, pulmonologists, and pain specialists, to name a few. During one visit to one of the top hospitals in the country, doctors told me that a hysterectomy would stop my abdominal pain and that it might be the only thing that could help. I couldn’t believe it — my biggest dream was to have kids — but the pain was so bad, I couldn’t live like that anymore. I felt like I had no choice if I wanted any quality of life. I went through with the procedure, and NOTHING changed — the pain continued. This was the most disappointing blow of all for me. I know my life today would be very different if I hadn’t made that choice, but I was so desperate for relief and trusted the doctors that it would help.
As challenging as the process was, I refused to give up. I knew I was sick, and there had to be an explanation for these horrible symptoms, even though so many doctors couldn’t figure it out. It took a lot of determination to keep going back, learn what was happening, and stay hopeful, especially when I was feeling so sick most of the time. At times I felt doctors didn’t believe me or gave up because they couldn’t figure out the puzzle I presented. When you're so sick, and doctors are telling you that you're fine and nothing is wrong is disheartening, to say the least. I had faith even as I was losing myself, and my body became alien to me, I knew it wasn’t in my head. Even through the fog of what was now my reality, I knew if I kept after it, I would get the answers I was desperately seeking. There was no giving up.
Not knowing what I was fighting was the worst part because it just ate at me. I felt like if I knew what I was fighting, I could get treatment and start feeling better no matter how serious the diagnosis was. I was not about to sit passively by when my life was at stake. After many years of searching and dead ends, I finally met with a doctor who suspected Porphyria. He ordered a urine test to confirm the diagnosis, and it came back positive. Finally, I had an answer. I was skeptical at first as I had been told many times that doctors had figured out what was making me sick, only to realize I may have had that medical problem, but it was not what was causing my severe symptoms. Knowing the name of what I was dealing with gave me renewed hope, and I knew there was a possibility of getting my life back. After starting treatment, I started feeling better and stronger. It was easier to concentrate, and I felt more like myself. After being in the dark for years, there was finally a path back to the light.
My parents were my biggest support, especially my mom. She advocated for me when I couldn’t advocate for myself. I struggled to get through each day, desperate for an answer. She stood by my side and never gave up. I know if it hadn't been for my parents fighting for me and fighting for my treatment when the insurance balked at covering the drug that saved my life, I would not be alive today.
Once I was FINALLY diagnosed, my mom researched this new, rare disease. There was not much available online in 2006, but she found the American Porphyria Foundation and the book Porphyria: A Lyon’s Share of Trouble by Desiree Lyon Howe. There was an instant of complete understanding upon reading this book. She was describing almost exactly what I had been going through and who had found a way to manage her disease. I felt validated, and more importantly, I felt a new sense of hope. After reading Desiree’s story, I realized it was possible to get better. At that moment, I knew I wanted to share my story one day. I hoped that doing so could help others feel less alone and more hopeful for their future the way hearing Desiree’s story did for me.
I became a member of the American Porphyria Foundation and enjoyed hearing news of other patients and caregivers who, like me, were navigating this rare disease. It gave me comfort to know there were others out there. In 2018 at an APF event, I FINALLY met other Porphyria patients! Their acceptance of me into the Porphyria community has helped me recover. I’ve connected with others who experience similar struggles, and connecting with the Porphyria community has been very healing for me.
I tell my story so doctors, healthcare professionals, and caregivers continue going the extra mile to figure out those difficult cases that just don’t make sense. I was fortunate to have my parents, and a few doctors stay the course - listening to me, believing in me, and knowing I didn’t want to be sick. They had the tenacity to ask the hard questions, learn new things, and push past their comfort zones. I am here because they kept fighting even when I couldn’t, and I owe them everything.
I tell my story to give a voice to those who are in the thick of the fight for their lives - please don’t give up and don’t take no for an answer. You must be your own health advocate - no one else will fight for you as hard as you will. I tell it to give hope to those who are just starting their Porphyria journeys, in the same way I was given hope when I was first diagnosed.
Now that I am diagnosed, I am much better, but I still have some acute attacks and chronic pain, including pain that is 24/7/365. It’s almost worse than the incredible abdominal and chest pain, weakness, fatigue, nausea, vomiting, and sometimes worse that comes with acute attacks. The acute symptoms are more intense than my chronic pain, but my chronic pain is always there, no matter what. Sometimes it’s better, and sometimes it’s worse, but it’s ALWAYS there. I joke that AIP stands for “Always in Pain,” lol!
Today I’m grateful for my journey and for surviving because some are not as lucky. I have two friends that had Porphyria and died because they did not have access to treatment, it's so sad. Knowing this and so many other stories of delayed diagnosis, loss, and pain as well as my own suffering, makes me passionate to fight for everyone affected by Porphyria.
There is a lot of loss with Porphyria, but there is also growth I’ve experienced and gifts I have received as well. I have gone through a major transformation through battling this unknown disease, fighting for diagnosis, and my life, while still trying to keep myself intact as I’ve overcome these struggles. I often find myself thinking about the days “before I got sick.” I used to beat myself up constantly because I couldn’t function like I used to. I would compare my present self with my old self and be terminally disappointed. I’ve learned a lot about myself, especially loving and accepting myself, even though I can’t do some of the things I used to be able to do before Porphyria reared its ugly purple head.
This new perspective is one of the greatest gifts Porphyria has given me. After being someone who equated my worth with my accomplishments for most of my life, Porphyria has forced me to look at the world differently and love myself unconditionally. For that, I am truly grateful. Now I listen to my body, and if I need to rest, I turn on the gentle button and just tell myself, “I’m going to rest because that’s what I need.” I’m kind to myself, especially on the bad days. It’s not only okay to take care of yourself but also imperative. My old feelings of comparing myself now to who I was before I got sick come back from time to time, but I’ve got a lot of life left, and my story is far from over!