Hi all!

My basic info: white female, 31, born in South Africa

I have variegate porphyria, as does my mother, sister and grandmother. Though I live in the UK, my maternal family come from South Africa, where it is more common than the rest of the world I believe.

None of us have a particularly good understanding of it. I'm quite embarrassed about that really, but I seem to get a different version from every doctor I ask about it. The Wikipedia page contains a lot of information I can't wrap my head around, and I get a bit overwhelmed when I Google.

The best professional I've spoken to about it was the registrar I saw when I was pregnant with my son. He explained that my blood would congregate in my liver and that's what causes issues?

My mother had horrible skin problems when we lived in SA - awful blistering. My sister experienced abdominal pain after having both of my nephews, and has sporadic abdo pain that she treats with OTC pain relief. I sometimes get a pain in the middle of my abdomen, like an inch or two under the front of my bra line. My mother calls that the porphyria pain. I did have it really badly for a night a few weeks after I had my baby and went to hospital but it seemed to pass after a few hours.

Really I'm asking for an ELI5 about it. I know variegate is one of the acute porphyrias. I had always thought it travelled down the maternal line but the last doctor I spoke to said it just seemed to in my family by chance. (My brother is a carrier, I have no other siblings)

When I was diagnosed in my teens there was only one specialist in the UK who was at the time in Cardiff, and I was an asshole 17 year old who didn't use my appointment with him to ask all the questions I should have.

One more quick question: I had my son at 26 weeks (he is a miracle and is absolutely fine, he is 1 on Sunday!) - is there any reason to think there may be a connection between premature birth and porphyria?