I5004643-AG - Question 1

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I am astoundingly sun sensitive. Reddish hair, pale skin. Had melanoma already at 32 yesrs of age.

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No. I probsbly should do it. I had a geneticist MD insist I had Porphyria, but I did not believe him. He looked pretty crazy! Whoops, maybe I was wrong! If you would like to speak by phone, I am willing.

I suspect I may have it. I have a lot of porphyria symptoms and have had giant blisters appear on my face when I took a certain medication. Which Porphyria is this gene related to?

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Those are all excellent questions. Hopefully, we can find answers.

I have mostly stomach problems and anxiety unless I take certain meds, then I have skin problems. I have a scar on my chin from taking Lamictal, and if I take any form of birth control, I get rashes all over my face if I get any sun. Otherwise, I have a few African genes that allow me to tan well even though I’m mostly Irish and Europen. I didn’t have any symptoms until I was around 30.

From what I’ve read, they really don’t know how many people have the porphyria variant because gene research is so new. Also, for some of the variants, you can have it and not show symptoms. It’s also possible that a lot more have it and have been misdiagnosed. I also have 2 genes for hemochromatosis, and they are supposed to be related to porphyria.

I’d like to stay anonymouse, but now I’m wondering what part of the country you all are from and if we are related. I had a ton of cousins pop up in 23 and Me, and I don’t know much about my mother’s side.

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No wonder we have the same SNPs, lol. I’m from Louisiana, but my DNA says lots of Irish. My French ancestry is from France as well as Cajun French and a drop of Native American/ Creole. I had no Idea how Irish I was until I took the 23 & Me test. I had assumed mostly French and British, but didn’t know where our family surnames came from.

89% Nothern European. Some Basque some vauge Arabic, Levantine stuff thrown in with a tiny bit of Ashkanaz!

I’m getting ready to see a medical geneticist. Do you mind sharing what SNP’s the geneticist found to determine you have porphyria? I’m struggling to even know the right questions. I’m pursing this as I have SNP’s that indicate I could have porphyria and found in my grandma’s bible that our family has this heredity disease called porphyria.