Tests ordered: Porphyrins, Qn, Random U
Uroporphyrins (UP) 23 H
normal range: 0 - 20 ug/L
Heptacarboxyl (7-CP) 11 H
normal range: 0 - 2 ug/L
Hexacarboxyl (6-CP) <1
normal range: 0 - 1 ug/L
Pentacarboxyl (5-CP) 2
normal range: 0 - 2 ug/L
Coproporphyrin (CP) I 26 H
normal range: 0 - 15 ug/L
Copropphorphyrin (CP) III 7
normal range: 0 - 49 ug/L
When I took the phone call from Dr. Premier, I was so excited to hear that my levels came back high. Then he explained to me that they are not high enough to get a diagnosis. This I don't understand... and still don't. After all, my heptacarboxyl level is more than 5 times over normal limits. Does that not mean anything? Apparently not enough.
Dr. Premier explained that in order to receive a porphyria diagnosis, my levels need to be greater than 10 times the normal limits. So we were close, but no cigar. How do I get my levels that high? I have to be in an attack... that's right, these levels represent me NOT in an attack. I was disappointed, but I also felt validated. For almost 2 years I have been telling doctors, nurses, family, friends, even myself, that something is wrong. That I don't feel like myself. Now I know that I was right, and that feels good.
Side note: I still don't understand why 5 times the normal limits doesn't get a person diagnosed. I asked my doctor these questions about porphyria.
me: "What else causes elevated porphyrin levels?"
me: "What else causes urine to turn purple?"
Dr: "Nothing else I can find."
me: "So if there's nothing else that causes these things, why can't I get a diagnosis?"
Dr: "Well...(long pause)...the geneticist (from Mayo who has been consulting) has told me that normal, healthy people can have slightly (key word) elevated prophyrin levels. So that's why the porphyria diagnosis must be 10 times the levels to distinguish between normal and porphyria."
me: "Can a normal, healthy person have elevated levels 5 times?"
Dr: "I don't think so."
So what I took away from that conversation is that there is no research about porphyria. I can accept that some normal people can have elevated levels. I can accept that you want to make sure that there is a distinguishing point between normal and porphyria. But who came up with 10 times? It seems like a large gap. I've read on other's blogs and forums that when you go into attacks, your levels skyrocket... but why should we have to go through that in order to be diagnosed and get help? I'm sick now, with levels 5 times the normal limits, but can't get treatments. This is wrong, and I told Dr. Premier that...and he agreed.