Erythropoietic Protoporphyria (EPP)
I am a 53 yr old and currently live in an area between North East and Central Pennsylvania. I grew up in the Pittsburgh suburbs and moved out to where I am now in 2007 for a job. I am the second of 4 kids and 3 of us have EPP. My older sister was the first to present with symptoms in early grade school. She/we used to call it ‘the itchies as kids. My parents, like all other parents without Porphyria, had no idea what it was. Around second/third grade, when I started noticing symptoms, my parents first thought I was just copying my sister and/or thought that we just couldn’t handle sunburn. Back then, there really wasn’t any sun protective clothes, and nobody wore anything like that anyway. Through the years my mom tried to get us medical help but we would typically be told to try sunscreen or have psychological screenings etc. When our younger brother (the youngest and 7yrs younger than me) started complaining of symptoms my mom pushed harder for help. She was able to get a referral for us to a Dermatologist. (this was back in the HMO days when you couldn’t just go to specialists). Our dermatologist was newer and when we presented our symptoms she suspect porphyria right away. She tested us for it by taking skin core samples and all three of us tested positive. We were so happy to finally have a name for the condition and some hope… and then heard next there was not any cure.
We started treatment with beta carotene tablets, which we were all very excited about. However the quantities we had to take and the minimal effectiveness quickly changed our minds. I had to take 10 or 12 capsules daily. I found it easier to simply suffer through my condition and avoid outside activities than to explain to others why I was orange… and still miss out on most outside activity.
Growing up with EPP is hard. In the beginning you don’t realize that the reaction you have from the sun is any different than anyone else. Then at some point it hits you that you are different. Nobody really understands; be it our parents, friends’ parents, friends, doctors, coaches, teachers. It is a hard burden to carry and at least in my life has caused a lot of social anxiety, isolation and personal doubt in myself and my abilities. High school was very hard without being able to participate in many sports or the typical fun things kids of that age do… I never really tried to explain my condition because so few ever understood or cared. As a man, I believe it can be harder because you are seen as weak, soft, and any other number of slurs from your peers when you can’t do certain things like playing sports, or helping with outdoor work/projects.
In my mid 20’s I took up Mountain biking as an activity. I have found over the years that my legs took longer to get any reaction, so riding in shorts was usually ok.. so long as the day was not too sunny and I kept my rides around an hour. I really enjoyed being able to be outdoors doing an activity, but I was still very limited in how often I could ride each week and couldn’t be out long when I did. I also learned of Solubra, and their clothing for sun sensitive individuals. I bought a few items and found them very effective. I would use them for times I would have to socialize outdoors for jobs or other activities where skipping out was not an option. It was a glimmer of hope that maybe things would get better.
Relationships were not easy either. The vast majority of women I met did not want to be with a guy who had outdoor limitations. I had quite a few relationships end because of my inability to vacation here or there, or go to a picnic/party. As this happened more often, my confidence in believing anything would ever work out dwindled. Right around the time that I believed I would forever be a bachelor I met Tammy who would become my wife (18yrs running). When we met she was going through some bad situations and was very open with them. This made me comfortable to share the details of my condition early on, and to my surprise it did not chase her away. We have two children (Elizabeth 16, and Stanley 19) that have both been tested and are negative, but carriers. Tammy has been a great support and has been very understanding of my limitations over this time, and has also been very understanding of my want/need to be outside as much as possible now in my ‘new normal’
I had always wanted to find a way to help the next generation of EPP patients, so when Afamelanotide was in clinical trials were announced I pursued becoming a part of it. I participated in Phase II at Mt. Sinai in NY, NY and was blessed to get the actual drug. It was such a great experience to work with Doctors and others who understood EPP and wanted to help us… this was also the first time I ever met another person with EPP that I wasn’t related too, and it was comforting to hear similar backstories time and time again. It was a 3.5hr drive for me to get to every appointment. But I was able to do it for the 6-month period. Mostly due to my parents who lived 3.5 hrs from me! They would drive to our house and then take me to each implant appointment, so they could get me back home safely. It was very hard to try to go outside and ‘test’ the drug. Especially not knowing if I had it or a placebo. Late in the trial I finally worked to push past my comfort zone and was amazed by the results. I could be outside pretty much without limitations regardless of the intensity of the sun. It was amazing.
After the trial I worked to help get the drug approved. It just had to be available to everyone with EPP. So I joined the committee put together by Desiree and the APF and did what I could to help… having my family, friends, kids write letters on my behalf and other activities to assist in approval. I didn’t think it would ever be approved, but was so glad when it was.
In 2023, I’ll be started my 3rd year of treatment with Scenesse and it has been life-changing. In that time I have kept up on outdoor chores regardless of weather and can even mow my lawn without wearing a shirt.. if it’s hot enough! I took my first vacation at the beach where I could actually BE on the beach. I got more seriously into cycling and ride my bike approximately every other day… 6-10hrs a week. And I will be starting my 3rd year in an 11 race Mountain bike race series across PA, NJ, MD, DE this coming summer. I hope to race this year wearing a new jersey I designed for the APF. I used to do a race here or there for ‘fun’ pre-scenesse.. but was never competitive typically finishing in the bottom 1/3rd… now that I can train as much as anyone else, I finish near the top, usually just missing the top 3.
As my cycling interest took off, I designed a few jerseys for a bike club my friends put together.(the biking Vikings). Based on my orders from the apparel company (a global company) I was given the opportunity to apply to be a brand ambassador for them. I was selected as one of 900 ambassadors world wide and got some free branded apparel and discounts on future orders. Owayo.com
Hopefully this helps others realize there is hope with EPP and things can get better. There are so many people working to make it better for all of us. I hope to continue to do what I can to help them advance treatments and help raise awareness.
A recent family photo
My Parents (George Sr. – Phyllis) and siblings left to right (Jess, Brad(Epp), Lynn(Epp), Me(Epp)
Me racing ‘Big Elk’ at Fairhill MD in 2022 in second Biking Viking Jersey
Racing Iron Hill at Newark DE in 2021 in first Biking Viking Jersey
Proposed APF Jersey’s and Bib
Me racing BEFORE scenesse in a solumbra biking jersey