Meet Justin, CEP Warrior
"My diagnosis came when I was just six months old, after my parents noticed that my teeth were coming in dark grey and that my urine was red."
-Justin, CEP patient.
I was born and raised on a small family farm in southwest Nebraska, where I developed a deep passion for raising crops and animals, as well as for the great outdoors- hunting, fishing, and sports- in spite of the challenges posed by my rare disease.
My journey with Congenital Erythropoietic Porphyria (CEP) began in infancy. At just two months old, I started showing signs of skin blistering. By six months, my diagnosis was confirmed after my parents noticed my teeth coming in dark grey and my urine turning red. Twenty-eight years ago, doctors knew very little about CEP, leaving my family to navigate much of my care on their own. My mother did everything she could to protect me, using sunscreen, hats, gloves, and long-sleeved clothing to shield my skin from the sun.
“Staying completely covered is not a choice—it’s survival.”
-Justin, CEP patient.
I've always been drawn to the world outside. I spent my youth helping on the family farm, playing high school sports like football, basketball, and track, and embracing every outdoor activity I could. I later earned an Associate’s Degree in Heating, Ventilation, and Air Conditioning (HVAC). Unfortunately, the progressive scarring on my hands from CEP eventually prevented me from making a closed fist to grip tools, forcing me to step away from the career I had chosen.
Living with CEP has shaped every aspect of my life. To stay safe, I must completely cover myself with long sleeves, bandanas, gloves, hats, long pants, and protective sunglasses. Even with these strict precautions, there are no true treatments that address the disease itself- only ways to manage its consequences: antibiotics for infections, creams for wounds, and pain medication. The lack of knowledge about porphyria among doctors adds another layer of difficulty, often leaving me in the position of educating medical professionals about my own condition.
Over the years, CEP has led to severe complications. Blistering and scar tissue make simple daily tasks- like buttoning my pants, opening doors, or eating- painful and difficult. My vision is impaired; I can only see out of one eye, and the other continues to deteriorate. Outbreaks aren’t just painful, they’re also prone to infection. Throughout my life, my family and I have searched for answers, consulting specialists at places like the Mayo Clinic and UTMB in Galveston, Texas. Right now, the only potential cure is a bone marrow transplant, but that is a risky procedure and wouldn’t address the existing scars.
Justin with his beautiful family.
Despite everything, I’ve built a beautiful life. I married the love of my life, Holly, in June 2011, and we live outside Wauneta, Nebraska, with our four children: Brayden, Brylee, Camren, and Karlee. They are my world.
Over the years, I’ve faced many hurtful comments because of my appearance and I credit my “never give up” attitude to my grandfather, who taught me to live with CEP and never see myself as disabled. My passion for life outweighs any cruelty. As a husband, father, and man of faith, I believe I’m here for a reason: to help others with porphyria. I feel blessed to be part of this community and look forward to the life-changing work we can accomplish together.
“I’m a God fearing man that is blessed to be apart of this community and look forward to seeing all the life changing things we can accomplish.”
Justin’s inspiring story.
Want to share your story? Contact us at katri@porphyria.org
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