Living in the Shadows: Elsie’s Journey with Congenital Erythropoietic Porphyria
Porphyria Voices shares experiences, insights, and advice from the porphyria community. Discover valuable knowledge, foster connections, and join us in raising awareness to empower and unite our porphyria family.
Written by Elsie Pultz
Curated by Katrina Parra
Living in the Shadows
There are many places one might expect to be diagnosed with congenital erythropoietic porphyria (CEP). A state-of-the-art research hospital. A medical drama where the brilliant but emotionally stunted doctor has a sudden moment of clarity. A cursed manuscript.
Arizona, however, is not one of those places.
And yet, that’s where my journey began—right in the middle of a state where the sun operates at full intensity year-round. Not exactly the ideal location for someone whose skin reacts to daylight like it’s personally offended by its existence.
My first outbreaks were painful, frustrating, and met with doctors examining me like someone staring at a complicated tax form, hoping the numbers will start making sense if they just frown hard enough. The search for answers took longer than a society touting the world’s most advanced medical system realistically should have (then again, this was the ’90s, when our best science also told us that putting gel in our hair was a solid life choice)—until we finally found Dr. Poe, a porphyria expert. The only catch? She was in New York.
So, off we went on a grand adventure involving many flights, many medical questions, and more blood samples than I was entirely comfortable parting with. But at the end of it all, I had a diagnosis. A rare condition, sure. A complicated one, absolutely. But at least I finally had a name for what was happening to me.
“I’ve accepted that my relationship with the sun is best described as ‘long-distance, and we don’t talk much’.”
-Elsie Pultz, CEP patient.
The Challenges (Or: Why the World Is Not Built for People Like Me)
Living with porphyria is a challenge on multiple levels. The physical aspect is obvious—daylight is a hazard, and that’s not something most people think about when designing, well… everything. But then there’s the social aspect, which is its own special kind of frustrating.
There’s the isolation, the loneliness, the depression that comes from feeling like you exist on a different schedule from the rest of the world. And, of course, there’s the skepticism.
"It can't be that bad."
"Do you really need accommodations?"
"You don’t look disabled."
As if my ability to function should be based on how uncomfortable someone else feels about my condition. It’s exhausting. The world isn’t designed for people with rare diseases, and convincing others that we actually need the support we ask for is a battle in itself.
Treatment? More Like Extreme Caution
For my version of porphyria, treatment isn’t really a thing. There’s a bone marrow transplant, but that’s a high-stakes gamble, and I prefer to save my risk-taking for things like trying new restaurants without reading reviews first.
Instead, I focus on protective measures: long sleeves, gloves, sunglasses, hats, and an amount of sunscreen that would make a lifeguard weep. Outdoor activities require careful planning. Midday activities? A strategic operation requiring multiple backup plans and the occasional dramatic sprint to shade. Beaches? Not unless I suddenly develop an urge for suffering and sand. Sunlight is not to be trusted.
At this point, I’ve accepted that my relationship with the sun is best described as "long-distance, and we don’t talk much."
Elsie practicing fencing with a friend.
Hobbies: Because If I Can’t Go Outside, I Might as Well Learn Swordplay
Since the great outdoors isn’t exactly an option for me, I’ve spent a lot of time developing interests that don’t require me to actively dodge UV rays. Writing, miniature painting, music, calligraphy (which I am convinced is more of a magic trick than a skill)—these are the things that bring me joy.
And then there’s fencing.
Yes, with swords. Because if you’re going to live a highly strategic, indoor-based life, you might as well pick up a hobby that makes you feel at least a little bit like a swashbuckling protagonist. By some stroke of luck, I found a group that practices indoors and at night, and honestly? It’s been fantastic. There’s something deeply satisfying about an activity that is equal parts precision, speed, and sheer exhilaration.
Would it be easier to just take up yoga or something? Probably. But outmaneuvering a blade is both cooler and easier than outmaneuvering the sun.
A Final Thought: What I Wish Someone Had Told Me
You are capable of so much. Porphyria is a limitation, yes, but I like to think of one of my favorite quotes from a podcast called “Welcome To Nightvale”:
"All the beauty in the world was made within the oppressive limitations of time, death, and impermanence."
Porphyria is a part of your story, but it’s not ~the~ story. Find the things that bring you joy and pursue them unapologetically. There is so much to do, so much to create, and so many ways to leave your mark on the world.
Elsie is a resilient individual living with congenital erythropoietic porphyria (CEP). Diagnosed in the 90s, her journey has been filled with challenges. Despite the physical limitations of CEP, Elsie has turned to creative hobbies like fencing, showing strength and determination in embracing life on her own terms.
Have knowledge or experiences to share with Porphyria Voices?
Reach out and pitch your idea—we’d love to feature your unique perspective!
More Porphyria Voices
