The day I knew something wasn't right with my perfect 3 year old beautiful boy.
I received a call from my sister at work, she was explaining that Noah wouldn't stop crying. She didn't understand why. They were all laughing and swimming in the sun. He kept expressing his hands hurt. By the time I got off work he seemed to be better. About a week later the same thing happened when he was playing in the sprinkler. This time I took him to his pediatrician. At that time I was told most likely he was doing it to get attention. I knew that wasn't right. Later that summer I took him to the emergency room. At that point he was tested for sickle cell disease and arthritis. Summer ended and the pain went away.
Luckily we live in Oregon and don't have as much sun as other places. Every summer for the next five years. He would experience more pain, have more dr visits and no answers. Each summer his symptoms got worse. Starting with his hands, then feet and finally his face. Noah would see me get stressed as my heart would break every time this would happen. I couldn't help him and I didn't know why this was happening to him. He was such a sweet boy and would try hiding the pain. I believe he was trying to protect me from the worrying. Sometimes when he was supposed to be sleeping and I would check on him. He would be tucked away quietly crying in his bed. This was not a boy who wanted attention.
Finally when Noah was 8 and I kept pushing his pediatrician, he gave me the number of an Advanced dermatologist. As soon as I mentioned hands, feet and face she got a strange look. She had read one time in a text book about EPP. He was tested at that time and we had answers, Finally. The words he cannot have any sun exposure really didn't sink in. Through the years I have watched him get worse. He is now 17 and knows what he can and can't do.
Noah is the only one in our family that has a porphyria that we know about. We plan everything we do around the weather. We do indoor water parks, go to the beach but plan activities on the beach at night, go to Disney Land in December. I feel sad a lot when I walk outside and think wow the sun feels good on my face. I feel so guilty that he will never experience that feeling. Summers are hard and are supposed to be something kids look forward to. He does not, nor do I. He started taking Colestipol about a month ago and now is able to drive without gloves. It is the little things that make a huge difference to him. So far he hasn't seen much of a difference with the medication but he is also scared to change his lifestyle.
Of course we have hope for what is to come and I am so very thankful for the American Porphyria web sites and other sites. This year I finally don't feel alone. I am blessed with an amazing son who will do so much with his life. I have raised him not to feel sorry for himself but to exceed. When he does complain, I think about how I would be complaining ten times more. He is amazing!
Tammy Keown - Proud momma