Living with AHP – A Rare and Debilitating Disease

My name is Megan and I live with acute hepatic porphyria (AHP).

My health journey began with the arrival of puberty. I started to experience terrible nausea and abdominal pain and, after living with these symptoms, it was assumed that I had endometriosis — especially since my mom struggled with it her whole life. However, over the next eight years, my symptoms worsened and took me on a path that involved everything from colonoscopies to biopsies of my liver and kidneys. Each time I experienced a health episode, I was “diagnosed” with something else and started on a new treatment path.

These constant health issues interrupted my development throughout my childhood and contributed to extreme depression in high school, which led to yet another course of treatment. I’ve noticed that for me, chronic illness and depression go hand in hand as you start to think things like, “you’ll never be out of pain,” “you’ll always be a burden to your loved ones,” and “wouldn’t it be better if this was just… over?” These thoughts were convincing and constant. I was tired of suffering, so at only 16 I tried to take my own life. Every day that I wake up, I am thankful I didn’t succeed.

Because of this suicide attempt, the decision was made to send me to a behavioral hospital, but the therapist I was partnered with wasn’t a good fit – I was given medication for ADHD that caused me to shake and twitch uncontrollably. After I left, I switched to a new therapist who said I was on far too many medications, so, yet again, we adjusted them.

My health struggles continued to adversely affect my life — when I was in the ninth grade, I passed out in my car while driving. I hit another driver, and he saw that I was slumped over in the driver’s seat. At the hospital after the accident, my heart patterns were abnormal, and my carbon monoxide level was elevated. Because of this, everyone assumed I had tried to end my life again. I hadn’t — but no one believed me.

As I recovered from the accident, I wore a heart monitor which picked up on strange activity that, once again, medical professionals couldn’t diagnose. This had become a recurring theme — I got so used to hearing “results are inconclusive” that I didn’t think I would ever get answers. My health continued to be a mystery.

A year after my accident, I passed out at school. At the ER again, my pulse patterns were irregular, and my carbon monoxide levels were elevated. Doctors asked for specifics, but I couldn’t remember, so I looked to my mom for answers. The doctor suggested my illness was imagined and that my mother was suffering from Munchausen syndrome which refers to a mental health condition wherein a caregiver seeks attention by exaggerating or making up symptoms for the person they care for. She recommended we both receive counseling.

My mother didn’t accept this. We marched out of the exam room and asked if other doctors were accepting patients. A few minutes later, we were in an exam room with another doctor. He listened to us and looked over my chart carefully. He finally said,

“I’ve never seen a live case of this before, but I remember reading about it in my medical school textbook. Your symptoms suggest acute hepatic porphyria, or AHP.”

AHP is a rare condition where people may experience debilitating attacks of severe abdominal pain, vomiting and seizures, which can be life-threatening. Many people also experience chronic symptoms, including pain, which continue to be present between attacks.

To confirm my diagnosis, I had to take a simple test, which no one had thought to order before due to the rarity of the disease. I still remember sitting in the office when my results came back. The doctor said I was positive for AHP — positive, not inconclusive! It was a huge relief to finally have an answer to a question I had been asking for nearly my whole life.

My mother started to learn everything there was to know about AHP, and I worked with my doctor to alter my lifestyle, diet and medications so I could feel my best. Slowly but surely, I began to improve. I graduated from high school and went to a college close to home so I could be near my parents if I got sick. I enrolled in classes focused on nonprofit management and was excelling in my courses and extracurricular activities — a huge difference from my experience in high school! My symptoms were minimal and I pushed myself, trying to normalize my situation for the first time in my life.

Partway through school, I completed an internship with a nonprofit in Romania. I felt great — better than I had in years — and was offered a conditional full-time position with the organization upon completion of my undergraduate studies!

A month after my return, I got extremely ill and had to be hospitalized, which was the most frightening experience of my young life. Even with my diagnosis, doctors were hesitant to treat me for AHP, fixating on other potential problems. I was in the hospital for more than a month and put on treatments that weren’t safe for someone with my condition. Between the illness and impact of the medications, I almost didn’t survive. My family was told to prepare for my passing, but in a moment of lucidity, I woke up, grabbed my dad by the tie and said, “Don’t give up on me. Please. I’m not going to die here.”

It took me a long time, but I slowly recovered from the AHP attack. I tried to go back to school but ultimately needed to leave due to my ongoing health issues. That wonderful nonprofit in Romania had retained the position for me for more than a year, but I eventually needed to give that up, too. It truly broke my heart.

I ended up meeting a guy who seemed to be up for the challenge that is dating someone with AHP and we got married. It wasn’t long before he decided he’d made a mistake, saying he didn’t want to live with me, couldn’t handle my illness, and didn’t want to take care of me for the rest of his life.

Around this time, while I was struggling emotionally, I found purpose and empowerment in helping others. Since I was the first person in our clinic to have experience with AHP, I distributed flyers at the facility, giving permission to disclose my contact information to anyone else diagnosed. To this day, I still get calls from people struggling with their illness and share my experience so I can give back and help them. I never want anyone to feel as alone as I did. While I never graduated with my degree in nonprofit management, I found my own ways to give back.

Over the next few years, my struggles with AHP continued, but I found an online support group through social media which helped me during one of my darkest moments. Support and sharing from others kept me alive and helped me be more positive. The people from that group are some of my closest and most valued friends to this day.

I eventually gave into pressure and started to date again. Via an app, I was matched a guy who I immediately hit it off with. I tried to educate him about AHP and what an attack may look like. While we were dating, I had another attack that landed me back in the hospital, but my boyfriend didn’t leave my side. About a week into my hospital stay, I grabbed his hand and said “We’ve only been dating for four months. This is your out — no questions asked and no hard feelings.” He said, “You’ve lost your mind. I’m not going anywhere.” Sometime later, he proposed to me on live TV. I thought I was doing an interview on AHP — and I was — but he’d orchestrated the whole thing. We’ve been together ever since.

I am sharing my story so that others don’t feel alone. If you have an illness like mine, you can find empowerment through your peers, online communities and by helping others through education. Today, I am proud to say that I’m happily married and contribute to my family’s business. While I need to coordinate with a team of doctors to manage my AHP symptoms, I’ve found the right people both medically and personally who listen and are proactive and supportive of my health journey. We not only watch out for my AHP attacks, but we also track my recurrent depression, so I get the right type of support at the right time.

I’m grateful to my family and medical professionals who believed in me when I didn’t. This support system helped me build deep reserves of strength. I’m determined to share that strength with others living with AHP.

  

 

Megan Parrish

Megan Parrish

For years, beginning during the onset of puberty, I experienced unexplained nausea and abdominal pain, bladder, kidney, and heart problems. I received several misdiagnoses—no one could explain the cause of my symptoms and I became terribly depressed. When I finally found a doctor who tested me for porphyria, I received a name for my rare disease: acute hepatic porphyria (AHP). Life with AHP is not easy, but I’m committed to helping others navigate their diagnoses because I know how valuable good support can be. I am an AHP patient ambassador for Alnylam Pharmaceuticals.

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