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Congenital Erythropoietic Porphyria (CEP)
We take a close look at a day in the life of Justin’s Life with CEP, well also learn what it is and just how rare it really is.
At what age did you start experiencing problems? What were they?
When I was first born, they noticed in the hospital that my urine was a red fluorescent color. They thought it had something to do with my kidneys.
Did anyone else in your family have a history of CEP?
No
When and how were you diagnosed? Where?
When I was 6 months old, they did blood tests and cultures. I was diagnosed at the McCook, Nebraska Clinic. (Currently 150 or less reported cases)
Did they get your diagnosis right the first time?
Yes, besides thinking it was my kidneys. Mom then noticed blisters when the sun would be on me. They then did a test to find out I had CEP.
How do you feel about having CEP and living with the ups and downs?
CEP sucks, I wouldn't wish it on my worst enemy if I had one. The ups to CEP there are not really any at all, other than that it gives you a look at life to strive to be positive, making you a fighter for the things that most people take for granted. The downs are endless and new every day: The fact that you are unable to go outside without being all covered up and drenched in sunscreen. The pain is bad, and the scarring that happens from any tiny bit of exposure. Not being able to be "normal" like others that can run around outside and soak up the sun. Growing up and living with CEP people staring at you and giving you mean looks because they are not aware of what really is going on. There are times that I’m down and stressful times. Trying to cope with all that is thrown at you is a daily struggle.
What are your symptoms and how have you managed them?
Symptoms are any exposure to the sun or certain lights I get blisters, some big, some small. All are very painful, and then after they pop, they take weeks to heal. Then when they do heal, they leave scars that limit normal skin growth. Pain becomes a normal thing that I become used to and just pray it heals fast each time. Trying to manage it is just lots of sunscreen and coverage when in the sun. I believe everything happens for a reason, so I just take what the good lord gave me and make the best of it.
Have you learned anything from having a rare disease?
CEP has taught me to take this disease seriously. I wish I would have been more protected when I was younger age and not been so stubborn when putting on sunscreen, long-sleeved shirts, hats and so on. I seem to learn something new every day.
How have your doctors treated you in the past and present?
They have treated me with antibiotics for infections from my sores. They have had me use steroid creams for my sores. Really that's about it. This disease did attack one of my eyes, in which I now don't have much vision left. CEP also caused a small hole in that eye. I see an eye specialist regularly. They put glue in the hole and a contact over it to keep it stable. My doctors have been supportive and helpful with everything that comes with living with CEP.
Do you work, and what do you do?
I try to keep busy. Working hard has always been a big part of my family's way of life. I try my best to continue to help family and friends with what I am limited to. I try to help at the farm or the family car dealership when I can.
Are you Married & do you have children & how has this impacted you in any way?
I am happily married since 2011. Since then, we have had two beautiful children. A boy Brayden who is 2 ½, and a girl Brylee who is 1 1/2. They are my reason for living. I love them so much. There are some things that limit me to my husband and father duties. With my hands being so small and sore (my hands are ½ the size of a normal person due to the severe scarring) it’s hard for me to change diapers, simple stuff like that. I can't play with them outside on a nice day for a very long period of time like I would like to be able to.
What are your future goals? Do you have hobbies that you enjoy?
My goals in life are to live as long as I can and watch my kids growing up and spend time with my wife. I try to stay as covered as possible. And take each day like it was my last. I enjoy the outdoors, which is hard since that is where I get most of my exposure from. But I live raising crops, animals, hunting, and fishing. My love for race cars keeps me going.
If your wife, Holly, would like to comment, how would you describe Justin as a husband and father, and how does he handle the CEP daily?
He is an amazing husband and an even more amazing dad. There are some things that limit him. But we are all right with that. I understand and try to help him in every way possible to make things easier on him. He has good days and bad days. He does not show anyone else how much pain he might be in. But when it is just the two of us, he is able to open up some more. He has a very positive attitude about it all. Some days he may be in enough pain that he stays in bed all day. But the next day, he is ready to go. The kids and I love him so much.
What encouragement would you give to others with CEP, and why raise awareness?
All I can say is words of encouragement. Don't take life for granted. Take your disease seriously and take the needed precautions no matter how much it sucks. Keep positive and have faith. There will be good and bad days, but how you react to it is your choice. So, stay positive and live life to the fullest. It is very important to spread awareness so that others may understand. With more people and doctors that know about it, they can understand and make it easier on me and find ways to help.
If the APF has helped you at any given point, how have they helped you?
The APF has helped out greatly. The thing I like the most is it brings all fellow porphyrians together to tell their stories and help one another to make this disease better to live with. I am very thankful and blessed even with CEP.
Thank you Justin for sharing your life with CEP! Holly, Thank you for raising awareness and your support to your husband and the American Porphyria Foundation. For a description of CEP click here.
