Stephanie Snyder

Type of Porphyria: 
Erythropoietic Protoporphyria (EPP)

 

My 7 year old son has just been diagnosed with EPP. Over the last 4 years we have seen numerous doctors, with whom all have said ;maybe he is allergic to this, or maybe he's allergic to that; until finally this summer he had the worst outbreak that finally led us to a doctor who was familar with porphyria.

She ordered the testing and sure enough it came back positive. How releived, yet terrifying. We finally had a name for this, but how heart breaking for our son. How do you explain to a 7 year old that he cannot do alot of the things that he soo passionately loves to do? That was my first question...the first of many.

Our son is so full of life and ambition. It all seemed so unfair. Our son seems to be dealing with everything alot better than we had expected. He has his days, but for the most part is coping well. He certainly gives me alot of strength and hope.

We are eager to learn more about this condition and meet other people that may have some advise. We just have to have faith and beleive that someday there will be a cure for this condition. In the mean time, we will remain strong and supportive for our son.