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Congenital Erythropoietic Porphyria (CEP)
When I was first asked to write about how CEP has impacted my life, along with any advice family members and others with CEP should know, I didn’t know where to start. I’ve written about this disorder before, but I was always given a specific aspect to focus on, so being told to just write is both liberating and nerve-racking.
But I agreed to give it my best shot, so here we go. The two most significant areas of my life that CEP has impacted are my mental and physical health. To be honest, I question whether I am the right person to be giving advice to others, but I’ll give that my best shot as well.
Let’s face it: as a 25-year-old who lives through “unprecedented” things every day, I have a lot of contributors to my mental health. But when I told my therapist that, on top of everything else, I was diagnosed with a rare genetic disorder at three weeks old, after being burned under bilirubin lights, she just slowly put her pen down. That’s when I knew we were in uncharted territory.
In all seriousness, my mental health was impacted the most during primary school, during college, and again now, as I navigate yet another obstacle from this disorder.
To say my teachers and administrators weren’t always informed about or accepting of me and my disorder growing up would be the understatement of the century. I had teachers demand that I go outside or go to the office, and to the office I went. Office staff called my parents to “discuss” what I meant when I said I couldn’t do certain things, so there my mom was, trying to explain everything again for what felt like the thousandth time.
In college, I was expected to navigate the so-called “best years of my life” while balancing a liver diagnosis that would ultimately lead to a liver transplant in 2023. I can assure you that being the one who can’t go outside and tailgate with your friends, or drink at the parties, does not make you the life of the party. Being a student teacher at the same time, without the security of employment laws protecting you from supervisors saying things they shouldn’t, is also something I would not recommend. For instance, at one point my supervisor suggested I wear an umbrella hat to teach every day. I’m not sure if anyone has interacted with middle schoolers recently, but I can assure you that very little learning happens when your teacher walks in looking like a human patio set.
Like I said, I do joke, but those years were probably the hardest of my life, rivaled only by my childhood, when I had plastic surgeries every year, and by the past few months of teaching full time while preparing for what’s to come.
This brings me to the physical impacts of CEP. Since I am attempting to keep this story concise, we are going to go rapid-fire here, because this disorder truly affects almost every aspect of my day.
I was diagnosed with congenital erythropoietic porphyria (CEP) at three weeks old, and by three months old I had undergone my first surgery. As a child, my surgeries were primarily skin grafts that allowed burned skin to keep up with the rest of my growing body. By my freshman year of high school, I had undergone 13 surgeries and sustained 8 broken bones. UV filters had to be installed, and still must be, over all of the windows and fluorescent lights at home and in my classrooms. During school, I couldn’t participate in recess, field days, outdoor field trips, or any other outdoor activities.
Then came college. During my first semester, I developed a serious infection from a blister on my leg, simply from walking to class. I couldn’t go to football games with my friends without planning when and where to meet them, which, as you can imagine, is hard when your friends are typical 20-year-olds who may run into a friend or drink a little too much and forget they even planned to meet you at 2:30 before heading in. Similar situations came up for other events, such as friends wanting to walk to lunch or sit outside on the lawn and study on early spring days.
It wasn’t only my leisure activities that were affected, but my academics too. I couldn’t attend lectures held outside, and I had to find, let’s say, creative ways to complete assignments designed for students outdoors, such as a professor “requiring” us to visit a local park to observe nature on a Saturday afternoon.
Nonetheless, all of that was considered manageable, or “normal,” for me, until my junior year. Right before my 21st birthday, I found out that I had liver failure, and after genetic testing, the National Institutes of Health concluded that the most evidence-based cause was CEP. As I mentioned, that was when my mental health really took a hit and, conveniently, so did my physical health. I underwent paracentesis every two weeks for months, along with more procedures, and ultimately a liver transplant.
I’m incredibly grateful for that, especially to my donor, Traci Miller, whose selflessness gave me a new life. But the transplant has brought its own lifelong challenges, one being a permanently compromised immune system that increases my vulnerability to infection, like the one that recently landed me in the hospital and kept me out of my classroom for a week.
The last time I wrote something to be shared with the porphyria community, I wrote, “I fear every day of the liver problems returning.” Unfortunately, since I wrote that, they have returned. So I am currently in the midst of managing my next steps, which don’t include a medicinal cure, since none has been approved yet for those of us with CEP, all while teaching middle school science full time.
As a teacher, I have had transparent filters placed over the windows and lights in my room, and I make sure an extra umbrella is in the emergency bag in case I have to exit the school quickly. When it is absolutely necessary to go outside, I wear protective gear, including special UV-blocking gloves, a jacket, an umbrella, and pants.
So yes, it’s a lot. But that’s the reality of living with CEP, for me and for other individuals and families who are all too familiar with this life. I’m still not confident that I’m the best person to offer advice, but if someone asked, I would say a few things. I’m going to do it in list format, because I’m a science teacher and that’s how we do things.
Thank you to all of the doctors who are not only knowledgeable but genuinely kind and want to do whatever they can to help me, and to each person who asks me to share my experiences, so that maybe in the future individuals can have more solutions and treatments, and maybe, just maybe, fewer umbrella hat recommendations.
