Elyse Adam

Type of Porphyria: 
Erythropoietic Protoporphyria (EPP)

I am a 25 year old mom of two, and I have EPP. I was diagnosed at age 5 (1991) after 3 years of doctors visits. My mom would not give up because she knew there was something wrong. After years of unexplained reations, accusations of abuse, and many visits to the doctor, a dermatologist by the name of Jorge Crespo diagnosed the disease. I remember very little of the process, but I do remember him shining a blue light on my skin. My parents were relieved to finally have an answer.

I am the first person in my family to have a diagnosis of EPP. My mother, father, and brother do not have symptoms of the disease. However, my parents believe that my great-grandfather had this disease. He was very sensitive to the sun and had similar symptoms, but he passed away before I was born. My children do not have symptoms either. I am grateful that my children and family do not have to suffer, but coping with this disease can be difficult when no other person understands the pain (emotional and physical).

I had my gallbladder removed in 2007. I have stomach aches on a daily basis and have limited the types of food I eat to help prevent digestive problems. I do not know if this a result of the disease. However, I have difficulty with separating the problems I have from symptoms of EPP. I was diagnosed with anxiety disorder in 2009 during my pregnancy with my daughter. The psychologist believes the years of worrying about reactions, and the fear of strangers asking about the disease caused me to develop anxiety disorders. The most difficult part is explaining to a person about the disease because some people do not believe it really exists, or he or she just underestimates the severity.

I remember in Junior High I went to cheerleading camp (one of the only sports I could do without worrying about the sun) and the camp was outdoors. In July, it is not the best idea to spend hours in the sun. My parents bought me a suit that was suppose to protect me from the sun. However, the suit did not work and only resulted in stares. I actually remember girls laughing and pointing at me. My coach did her best to explain the situation and that did limit the stares. The suit was a waste of money and an unnecessary blow to my ego because I had to leave after one day. It was the first time I thought I might actually die from pain. I had my first sunburn. My brother was very sweet and took care of me. He nailed blankets to all of the windows in our house and made sure the dogs did not jump on me. He was only 10 at the time.

My babysitter's parents had a lake house. I remember her dressing me up in all sorts of clothes just so I could go swimming with the other kids just for a little while. We would go early in the morning and she would let me swim. I would wear a huge beach hat, dish gloves, long sleeve shirt, and tights. I knew other people were staring, but I loved to swim and did not care what people thought.

I did get to experience normalcy during my pregnancies. During both pregnancies I did not have any reactions. I was able to attend my husband's softball games and wear "normal" summer attire. It was fantastic to feel the sun on my skin and have no fear. Although I knew I would not have a reaction I still used sunblock and sat in the shade, but I still loved every minute of my EPP free days.

This summer was my first visit to the ocean to celebrate my daughters birthday. We spent a week at the ocean and it was fantastic. However, I had a reaction. I did not care how much pain I was in I refused to ruin my family's vacation.

Although this disease has limited my abilities I have tried hard to make my life normal for my children. I do as much as I can, and I even push myself to do more so my children can have a normal childhood. I do not want to limit my children because of my disability. I have estimated that I can be in the sun for approximately 10 minutes before the "tingles" begin. After the tingles begin I have to go inside or I will have a full blown reaction. During a full reaction I normally cope by sitting in air conditioning in complete darkness. I dread the spring/summer, but I love winter and fall because I do not have reactions in these months. I am the person I am today because of the disease and the experience has made me a better person.