Erythropoietic Protoporphyria (EPP)
I am Candace Colbert and I have Erythropoietic Protoporphyria (EPP).
Growing up in the Missouri Ozarks in the sixties, I have memories of hot, humid summers with occasional violent thunderstorms providing cool relief. Splashing in street puddles under rainy skies or playing “Mother May I?” at night with neighborhood kids were tops in my childhood eyes. Sunny days, however, were terrifying. Forced to go to a swim club many blocks away by bike, I often sought shelter inside the clubhouse where I found the darkest possible spot to hang out. Pain came when I tried to keep up with other kids and their routine outdoor play. Reactions to the sun included swelling and blistering of the hands, and lesions on my face. My feet felt like they were on fire. Often my feet were plunked in a basin of ice water and face covered with a wet cloth while I cried through the pain. At bath time I was often terrified to put my feet or hands in the warm water knowing the knife-like stabbing pain would worsen. At night I would place the back of my hands against the cool metal of the Harvard frame of my bed. The deep pain and need to be in a cool dark environment lasted 2-3 days and no medication relieved it.
Mom asked the pediatrician about the reactions and pain I was experiencing and was told it must be a sort of allergy to the sun and told her to keep me inside. For an outgoing, energetic girl that was a tall task. I found dancing, playing an instrument, and gymnastics all ways to have fun indoors. These helped but what remained was the reality of being punished with pain if I tried to go out in the sun like my sister or friends.
On a couple of my birthdays, I was inside with feet and hands in cold water requiring cancellation of birthday plans. Becoming a teenager made the social isolation more acute. Friends inviting me to the lake to ski or pool to swim were events I could not accept. In high school, I led a sort of dual life, in the day, practicing my oboe for the orchestra and in the evenings going to the river or attending parties with my friends. At this point I still didn’t know what was “wrong” with me. Relationships often brought on feelings of isolation. One boyfriend who was perfectly wonderful to me, took out a new swimsuit out of a bag and wondered if I liked it. I broke up with him the next day, afraid I would not fit in with his outdoor life. Other relationships have failed possibly due to a misunderstanding of, or indifference to my limitations.
In college, I studied nursing and am pleased to say two traits that make me a good nurse are empathy for patients and being a fierce advocate for them when required. Perhaps my own experiences lent me these qualities. Through 4 years of nursing education, I still had no explanation for my condition as it was not in the curriculum. My young adulthood brought more of the same isolation but at least I was able to make the best of shift work. Working some weekends became an excuse for me not to be able to join my friends.
Having moved to the Boston area in 1990, I have been blessed with two amazing children, now young adults. Thankfully they are both sun tolerant! As a Mom, it was a challenge to keep them involved in outdoor activities and me out of the sun. I shadow hopped (before I knew the cool terminology) and literally watched their outdoor events from the woods edge. They have been exceptionally supportive of me and I am grateful for their understanding. We look forward to the day we might share the great outdoors together without limitations.
It wasn’t until I was 43 years old that a friend suggested I use the internet to search for possible answers to my symptoms. After typing “sun allergy face hands feet” - I found Dr. Mathews-Roth a professor at Harvard’s medical school in Boston. Though I have never met her but on the phone, she was the first person I spoke to who understood my symptoms and what they could be. She told me the specific blood tests my primary care physician needed to order and where to send them. The results came back confirming what she suspected, EPP. I felt so validated! She also inquired about other family members and we found out my Dad had EPP as well. I felt supported by her newsletters both by learning how to protect my body and knowing others were going through the same issues.
My sensitivity to the sun has increased as I have aged requiring more extreme methods of protecting my skin. I now have heavily tinted car windows, use a thick zinc daily and cover my skin from the sun by wearing Buffs on my face, long sleeved shirts-often with denim jacket, gloves and blankets with driving, and totally cover my feet. Strangers have asked if I am going to rob the store when I wear the buff over my nose in the parking lot. At home, the house now has room darkening shades that are closed if I am in the room on a bright day. Indoor lighting is a source of sensitivity unlike my youth. Vacation and weekend plans are difficult. The weather and sun position are always accounted for with trip planning. No wonder the thought of travel brings anxiety at times. Thankfully I became involved with the American Porphyria Foundation (APF)! The amazing people at the foundation have provided education, support, and ways to volunteer. I have participated in letter writing campaigns to the Food and Drug Administration (FDA) commissioners, attended the Scientific Workshop on Erythropoietic Protoporphyria at the FDA, and distributed literature about Porphyria to medical sites. The APF has kept me informed of clinical trials and the most up to date information regarding EPP.
I found out there was a porphyria specialist in New York City. At my initial visit to Dr. Balwani’s office at Mount Sinai, I was over 50 years old. I was overcome with tears when I saw the entire waiting area was a pediatric waiting area. How much it would have helped if I was diagnosed as a child! When I met Dr. Balwani, it was the first time I was face to face with someone who was knowledgeable about EPP. She and her wonderful team were a great support and soon I enrolled in studies and clinical trial.
I have made great contacts in the EPP community and feel fortunate to learn of their journeys. Additionally, my husband and I hosted a teenaged boy with EPP from Denmark to stay in our home. This was a joyful chapter and helps remind me of the positive experiences one can have-even with EPP. See the Bright Side of EPP in the 4th quarter APF newsletter 2019.
In April 2019, with the guidance of the APF, I helped host a Patient Education Meeting in the Boston area. We had the privilege to have Dr. Amy Dickey as the guest speaker. She announced at the end of the meeting she would soon be seeing patients with Porphyria at Massachusetts General Hospital (MGH). As a Protect the Future physician, those of us in New England are extremely fortunate to have Dr. Dickey in her role. It has been thrilling to work with Dr Dickey on a couple of projects this year. More to come!
What an honor it was to be asked by the APF to be on the Membership Advisory Board. My hopes are to be an advocate for early diagnosis. I intend to find avenues to teach doctors and nurses the symptoms, not only of EPP, but each type of Porphyria. With two new FDA approved drugs coming out in 2020, we need to inform the medical community and public so more people may be diagnosed and treated. It took over 40 years to receive my diagnosis of EPP and that was with intense self-advocacy. Even if we found every single person in the US, it would most likely still be a rare disease (under 200,000 people) – and we do a lot of advocacy for research, education, access to treatment for rare disease and even ultra-rare disease (under 10,000 people in US.)