Acute Intermittent Porphyria

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    Doubting if I'm Sick Enough as Someone With a Rare Disease

    I live with rare neurological condition called acute hepatic porphyria and the fight I have with my body is constant. I don’t ever think I’m sick enough. I will actively choose not to seek medical help, even when I am in the throes of a life-threatening attack. I imagine this idea of minimizing severe symptoms when you have a chronic condition like porphyria is not uncommon, although I’ve yet to meet another person in my community with the struggle. Why is no one talking about this? Let’s back up and talk a little about this rare disease. Acute hepatic porphyria is an inherited metabolic disorder caused by a missing enzyme in the liver’s heme biosynthesis pathway; it affects approximately one out of 100,000 people in the United States. The majority who live with the genetic mutation seem to function just fine despite limited heme production. For others, like me, symptoms occur when environmental triggers like certain medications, diet, stress and hormones overwhelm the liver’s production of heme and damaging neurotoxins overflow throughout the body. Attacks look a little different for everyone, but for me they generally start with extreme and unspecified anxiety, constipation and abdominal distention. When the diffuse pain starts in my abdomen, it’s unreal, debilitating and all consuming. I get these attacks twice a month and more often than not, my symptoms don’t progress further than the extreme pain. When I categorize an attack as “severe,” it means I’m experiencing paralysis, muscle weakness preventing me from walking and uncontrollable vomiting. At this point, I need to be hospitalized and treated to prevent dehydration, monitor my metabolic numbers and receive treatments, including IV pain meds. Time and again, when I am in a severe crisis I seem to be unable to recognize and acknowledge the severity of my symptoms. I will simply stay home in bed for days doing nothing but trying to survive. This is of particular concern because untreated hepatic porphyria can cause irreversible nerve damage. In a severe porphyria attack, I will continue to push through despite how much my quality of life is impacted. The moment I think about requesting hospital admittance, I feel like an imposter, like the symptoms of my porphyria are not yet to a point I have deemed “crisis-level” and worthy of outside attention. It doesn’t help that porphyria is largely an invisible illness, so I am constantly reminded about how “well” I look from well-meaning family members and even my nursing team. If I look good to others, how bad can an attack really be? I think many chronic pain patients would agree that wearing pain looks different once you get accustomed to enduring it in large doses. My brain decides again and again to minimize my symptoms, that I am not sick enough to warrant action. Then once my attack is over, I’ll look at my fiancé and say something like: “Dang, I really should’ve been in the hospital for that one. Next time I have [fill in the blank symptoms] I will definitely go.” A version of this conversation occurs after every severe attack. And while he’ll continue to call me out on it, I can’t quite seem to learn from my mistakes. Where does this damaging behavior come from? I can trace its origins to several influences and experiences growing up. From a young age, the behavior of pushing through while ill was modeled to me. Women who were not giving their bodies a break and going to work sick surrounded me, in the media, at school, even in my own home. Also, when I consider specialists misdiagnosing my rare disease and dismissing my pain as being “in my head” or a supreme manifestation of mental illness for nearly two decades, I can see why I developed a complex. I can see why I get stuck on this belief that the pain my body endures is not a big deal, at least not one that necessitates medical intervention. Before diagnosis, minimizing my symptoms was how I survived. But there’s more to it than that. In our ableist society, people may feel if they dismiss their needs they will be rewarded. Not to mention that illness is seen as a weakness, something to be hidden, and many people don’t consider that disabilities can be invisible. Badges of honor are bestowed on those who push through despite their pain, because the image we portray becomes more important than how we truly feel. How would I act if I was not concerned about the judgments of others and instead was true to myself? If imposter syndrome is about image rather than courage, how would it look if I acted courageously? Acting courageously, I own and do not minimize my symptoms. Acting courageously, I demand a better quality of life. Acting courageously, I am not accepting of my suffering when there is a solution at my disposal. Acting courageously, I do not accept doctors dismissing me. Acting courageously, I do not let my body get weak from nerve damage and dehydrated from vomiting before seeking help. If this idea of not being sick enough does, as I suspect, run rampant in the rare disease community, not enough people talk about it. In my opinion, that’s a problem. When I choose to dismiss my voice of self-compassion, I choose to deny my truth over trusting my body. I choose illness over wellness. I choose to live in fear, and fear is a supreme liar. Are you a chronic illness warrior with tendencies towards imposter syndrome? Comment below and consider sharing your story on social using #MoreThanPorphyria. Let’s continue to make it OK to talk about mental illness and pain denial in the rare disease community!

    Community Voices
    Community Voices

    Is anyone active on this site with any form of the Acute Hepatic Porphyrias? I have finally been diagnosed and am looking to connect with others.

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    Stopping Full-Time Work Because of Chronic Illness

    I have a long-term severe and chronic metabolic disorder. Most days, I have a few good hours. And earlier this year, my condition stopped me in my tracks. Up until this point, I derived my worth from my career, from my income, from the community involvement, from the sheer amount of valuable projects I could get my hands into. But as a career-focused 35-year-old, I found myself facing a difficult decision. It was time for me to face the fact that I could no longer work a traditional, full-time, 40-hours-a-week job. Needless to say, this was a heart-breaking situation for me, as I know it is for professionals everywhere. Here’s how I knew it was time. I was working full-time, but slowly by a sheer plummet in energy level, I was taking on less and less. First, the leadership roles had to be delegated. Next, the networking and volunteering fell away. Soon after, my social life began to shrivel up to friends who were comfortable enough sitting by my side during infusions, in the hospital, or while laying on my couch in jammies. I couldn’t be there for people or the causes that were once so important to me. I was working full-time and doing my best, but all the while my body was screaming. Let me back up a bit. I have acute intermittent porphyria, a life-threatening and rare metabolic disorder for which there is no cure. Before I was diagnosed, and even after for a handful of years, I worked full-time as a social impact graphic designer and communications professional, in a traditional 40-hour a week position. But it wasn’t pretty. Curled up in the fetal position with pain, I still tried to work on my laptop. I attended conferences and speaking engagements with little to no sleep, too nauseous to eat or drink. And yet, I continued to prioritize my job. Society rewards hard work, fancy titles, and large paychecks. Expectations to get involved in community events, networking and fundraisers are strong. With a chronic condition, it’s difficult to manage this pressure. With chronic pain and illness, it is often impossible to live any way but a day at a time. Planning is hard because symptoms come and go, in varying degrees of frequency and with little to no warning. When I was diagnosed, I learned that medical intervention would require, on average, more than 10 hours of my time per week. On top of that, the regular appointments with specialists near and far, some that are scheduled in advance or some that are scheduled around flares. Not to mention self-management of my symptoms, including increased sleep and rest during the day. I went into work on my weekly treatment days, staying in the office right up until the very minute I needed to leave for the clinic. Then, I would continue to work from the waiting room, doctor’s office, and while hooked up in my infusion chair. (I later came to learn that I was known by the chemo patients as “the girl with a laptop,” not the reputation I wanted, nor the image I would choose to portray in that situation.) But I was desperate to continue demonstrating my worth and my value through working. I wanted to be superhuman, to both have a life-threatening chronic condition and not let it stop me from doing what I wanted to do. I think there’s a medal for that… right? But seriously, I thought a full-time job embodied my accomplishments and defined my worth. I didn’t want to lose that, because if I lost that, what is left? Like most things you force, they eventually crack. And in my case, working full-time at this rate evoked a full-fledged porphyria attack. In crisis, my colon was paralyzed, I was too weak to walk without assistance, and I endured incapacitating pain for weeks. I tried to work through it, which seems silly now. After I landed in the hospital, I had to face the facts that had slowly been building around me. I was not giving myself time to heal, to be, to live. In order to truly live, I needed to give myself time. Recovery is nearly constant with my weekly treatments; I needed to give myself space to rest. For me, this meant stepping away from traditional, full-time work, in order to embrace porphyria for the full-time challenge it is. I understood that as long as I was working full-time, I would continue to prioritize my work over my health. Here’s how I determined a traditional, full-time job was not a good idea for me. • I could not be there for those I loved. During nights and weekends, I was so utterly exhausted that I found myself choosing between my health and my family.• I am the only person who gets to decide how I will use my energy. I have just a few good hours in a day, and I realized I was giving them to my employer. My energy is precious and no one will protect it for me. It’s easy to get trapped in thinking that your work is slipping or that you are the weakest link on your team as a way to justify stepping away from a 40-hour-a-week gig. But I found it best to focus not on your effectiveness at work, but your ability to parent, support your partner or be there for loved ones. Many employers have processes in place designed to allow you to incrementally walk back from your full-time position, such as FMLA and short-term disability. Even taking long-term disability doesn’t mean that it will be forever. I recommend journaling about your feelings surrounding the decision. Consider the judgments on yourself, which can be hard to do if your illness or injury causes an abrupt change in your ability to work. And when emotions run high, it’s difficult to think logically. Find your go-to person, someone who will love and support you in this situation no matter what. While you are making your decision and taking necessary steps with your employer, keep in open communication with your go-to, as well as your family. If you feel comfortable opening up to a co-worker, you may greatly benefit from her perspective of your job management ability as well. During this difficult process, I found it most helpful to remember that I have to do the right thing for my body, my family and my healing.

    fairez
    fairez @fairezorn
    contributor

    The Daily Challenges of Living With Porphyria

    Usually, when someone wins a lottery against high odds, it’s a good thing. Perhaps they win cash, a holiday vacation, or a special prize. In my case, the prize was a rare disease known as porphyria cutanea tarda, otherwise known as PCT. While the odds differ depending on which research is conducting the census, it is widely thought that approximately one in 10,000 people have PCT. Obtaining a diagnosis of PCT can be difficult, often requiring visits to various medical specialists, most commonly dermatologists, hematologists, geneticists and general practitioners. There are multiple types of porphyrias that exist due to the metabolic and sometimes genetic factors involved. These components play a key role along the pathway that involve certain DNA markers and the synthesis of of heme. Additionally, some medical conditions can bring upon the onset of PCT, such as hepatitis C. Needless to say, it only gets more complicated from there. Technically speaking, porphyria that is not brought about by another underlying medical condition is generally considered to be an inherited metabolic disease that affects the synthesis of heme, which is crucial to the metabolic stability of the human body. In my case, PCT makes it nearly impossible for me to be in the presence of UV light, which of course most people get from sunlight. I have notable dark pigmentation on my hands and face, blister in sunlight even with the application of sunscreen, and an immense amount of hair that grows rapidly wherever it chooses. To research it online, old myths about vampires and new breakthroughs by medical science can be found side by side. Living with PCT is a daily challenge, one that requires me to adjust my schedule, what time of day I run common errands, watching the foods I eat carefully and mindfully, and attending ongoing medical appointments. Through all of this, it’s been important to me to be an advocate for those who have rare diseases and to maintain a sense of humor. Humor, for me, is both therapeutic and can be a tool that changes my perspective. Laboratories, as well as many physicians, are unfamiliar with treating such a rare disease and some may go their whole medical career without having a porphyria patient. Personally, I think it’s important to be a self-advocate as well as being a person who keeps an open mind as these professionals learn alongside me. We work as a team to achieve the best results, whether that be my emotional or my physical well-being. Diagnosis is a lengthy process as proper confirmation is sought, and maintaining a line of communication and dialogue can go a long way. I am fortunate to have a wonderful hematologist who is familiar with the different types of porphyrias and she is always working to learn about the best treatments so that I can feel better. I am the only porphyria patient currently that she has, and she took the initiative to inform the staff and their on-site lab as to the correct procedures for addressing someone with my needs. I believe that anyone living with, or caring for a patient who has a rare medical disease can go through quite a lot emotionally. There are good days and bad days. I hide from the summer sunshine as so many vacation at the beach, and I relish cloudy or rainy days. My house is decorated in special UV-blocking curtains and I do my grocery shopping after the sun goes down. Knowing that my condition requires me to construct my life carefully, I chose to see a licensed clinical therapist who uses dim lighting in order to have a safe place in which to express my personal anxieties. It has worked wonders. Not only do they help me prioritize my concerns, but sometimes you just need a listening ear and a friendly face. For me, sharing my experiences and how I manage life with PCT –including humor –is an act of advocacy for myself, others like me, and those who are an integral part of caring for someone living with porphyria.

    Community Voices

    I have it and it took years to get diagnosed and some treatment but even drs treat is like we have a drug addiction. When the meds they give us help have some what a normal tandem now the government wants to take that away . I’m blessed that my dr cares more about his patients then what the government thinks!

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