'Shadow Jumper' with Rare Disorder

'Shadow Jumper' with Rare Disorder
By: Cayla Marie

At age 13, I was diagnosed with Erythropoietic Protoporphyria (EPP). Ever heard of it? No? Don’t worry, you’re not alone. I have yet to stumble upon someone who knows this invisible disorder. In fact, it took my mother 13 years of dedicated searching to find a doctor who understood what was happening.

According to the American Porphyria Foundation, Erythropoietic Protoporphyria (EPP) is a rare inherited metabolic disorder characterized by a deficiency of the enzyme ferrochelatase (FECH). Due to abnormally low levels of this enzyme, excessive amounts of protoporphyrin accumulate in the bone marrow, blood plasma, and red blood cells. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After exposure to light, the skin may become itchy and painful. Affected individuals may also experience a burning sensation on their skin. The hands, arms, and face are the most affected areas. Some people with Erythropoietic Protoporphyria may also have complications related to liver and gallbladder function.

Imagine going to the beach as a kid and all you wanted to do was scream and cry because it hurt so much to be outside that you couldn’t stand it. Tears welled up in your eyes as you fought to hide your hands in the sand because it was the only relief, just to find that the scratch of the sand on your skin intensified the pain. As a result, you shook the sand off your hands and ran to the water, only to find the impact of the air on your skin after submerging in the cool water was unbearable. The pain onset rapidly and was excruciating, but no one else could see it but you – it was invisible.

Do you look crazy? Probably. It doesn’t surprise me that some doctors would think of a mental health issue and recommend therapy. To make it even crazier, my sister had the same feelings! At least someone didn’t think I was crazy.

My mom was determined to understand what was wrong. We went to every doctor under the sun (no pun intended!) without any luck until 2003, when we finally stumbled upon a dermatologist who thought our case was intriguing. After countless appointments, we were diagnosed.

Once we finally figured out what it was, we were able to take a deep breath and think about life a little differently. I became a ‘shadow jumper,’ running from shadow to shadow to avoid the painful reaction to the sun. Staying inside just seemed easier. I remember trying out for the soccer team in middle school and just bawling my eyes out in the locker room because I couldn’t stay out long enough to make the team.

I was determined to live a normal life in high school. I played soccer, I was in band, and I ran track. I covered myself from head to toe to make it happen. I lived through constant comments and misunderstandings (not easy for a teenage girl), hiding under trees when I could, and only stripped down to my uniform strictly for game-time. What the others didn’t see was me running my hands along the cool metal bar under the seat of the desk during class the next day, desperate for something to calm down the intensity of the pain on my hands. They didn’t see me struggle to shower after practice while even cool water felt like 117 degrees on my face.

It wasn’t until college that I finally started finding my way. I discovered the value of forming relationships with those who appreciate you as an individual and don’t care about how you look. I even found the BEST sport on the face of the planet for those who are sun-sensitive – caving! There is nothing more fun than crawling around in the mud and exploring the dark places of the world with great friends. I found that outdoor enthusiasts were the most gentle, caring people in the world. While it may seem counterintuitive based on my natural resistance to the sun, all I wanted to do was be outside with my new friends.

Hats, masks, gloves, long sleeves, pants, and umbrellas become a part of everyday life. I finally understood that it didn’t matter what I looked like (though I was excited to find the skin-colored gloves). I could, and should, enjoy myself outside just like everyone else (with the right coverage, of course) and that’s all I really wanted to do. I found my way, embraced my disorder, and confidently became the vampire I am today!

After finishing my undergraduate degree at Penn State, I moved to the Pacific Northwest – the rainiest, cloudiest area of the country and I started to go outside more often. I married my incredible husband who will gladly be my shade in every situation. He is also totally fine getting caught in the rain with me, which is great!

After 30 years of making my way through the shadows, I caught wind of some medical research on my disorder. Scientists have come up with an implant called Scenesse that reduces the painful impact of sun exposure for those with EPP. I was approved in August for my first dose, and I can’t even describe the emotions I experienced when I received that email. For the first time in my life, I went outside to water my garden without having to put on my ‘porphyria suit’. I drove to the grocery store and walked from my car to the door without putting on several layers of additional clothing to go outside. It was incredible! The convenience of it all still baffles me! While I only seem to get about 15 minutes of outdoor time before the pain kicks in, I am filled with joy and gratitude for those minutes that many take for granted. I will cherish each of those convenient moments. Medical innovations are truly miracles and I appreciate those who investigated the life-changing impact for someone who can’t go in the sun.

Regardless of my porphyria, the wilderness is where I feel most at home (kind of ironic). In April of 2022, I will be setting out on a trek to hike the Pacific Crest Trail – a 2,650-mile journey from Mexico to Canada. The thru-hike is notoriously challenging both physically and mentally, but I am ready for the adventure! It will be interesting to see how long I can make it in the daylight, or if I switch to night hiking. Whether I make it 100 miles, 1,000 miles, or all the way to Canada, I will be proud of the progress I’ve made getting outdoors as an individual with Erythropoietic Protoporphyria (EPP).

Follow along @cdank13 Instagram to learn more about the experiences of a porphyria warrior.

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