Tuesday, May 18, 2010

I'll Prove You Wrong... All of You

After such a horrible experience at Mayo, where the "leading experts" are known for cracking the difficult cases, I became obsessed to prove I do NOT need a psychiatric evaluation. I dove into forums, blogs, case studies, medical websites... anything I could find that mentioned porphyria. Needless to say, there's not much out there. In Dr. Premier's own words, "This disease is known as an 'orphan disease'. Pharmaceutical companies don't put money into research because not enough people have this condition to make money off of." Although I understand this point from a business perspective, I think it's horrible.

What I did find is purple pee. This is mentioned in almost every document, blog, and forum as a tell-tale symptom. Although I knew my penny-colored urine was not comparable to the few pictures I did find, I decided to try out the sunlight test. For those unfamiliar, this simple test involves peeing into a clear container, setting it outside in the sun, and watching to see if the urine changes from yellow to purple. So I did the test, left the house for the day because I knew I would be fighting not to check on the color every 5 minutes, and hoped that I wasn't truly crazy. These are my results.

Needless to say, I was relieved. I emailed my doctor these two pictures, complete with an explanation of this at home test. He responded, "Looks like a positive test to me. Hopefully a 24 hour test will confirm."

At the time, I thought that a 24 hour collection would surely give me a diagnosis. After everything else I've been tested for, at least we know what we are looking for... but I found out it's not that easy.


  1. My pee is the same color! Thank you for the pictures.

  2. Mia,
    Have you also done the sunlight test? Or is your pee just dark when it comes out? (If there was a better way of asking I would like to know!..I never knew I would talk about pee so much!)

  3. Hey Jan, I've caught up on your whole blog now. Crazy how similar our stories are, huh? It seems we all have a Dr. Asshole or two. I just had a few of them in the ER a couple of weeks ago. Even once you get your dx, they still don't wanna believe it. ugggh.
    Hey, have you gone gluten-free yet? I can't remember if you mentioned it or not.
    I'm going a little crazy with food issues these days. Trying to be high-carb, gluten-free, vegetarian (just because I have been for 11 years and I won't eat animals,) low iron, and now balancing that with pregnancy... my head is swimming. I need a professional chef. Right after I pay off all those medical bills.
    Oh, and I wanted to mention: I don't know where you live, but giving my hematologist a call may be worth it for you. She's awesome, and seems to not be afraid of porphyria. Lemme know if you want her info. She at least may be able to hook you up with a doc near you who will be willing to get you on a regular hemetin infusion.

  4. Hey Sabrina (for those of you who don't know Sabrina's blog, My Swell Disease... it's fab and I highly recommend reading it). I have been keeping up with you as well. I was worried something happened when you didn't finish your Awareness Week blogging. So sorry to hear you went into a bad attack. At least the baby is doing well. To answer your question, I have not gone gluten-free. Honestly I've thought about it, but I'm scared. It's stupid when I actually think of the benefits, but I would miss my junk food and pastas... and no I haven't tried the gluten free products, which are probably better than I expect. I've heard a lot of porphs talking about what a difference going gluten free made, so maybe I should bite the bullet and go for it. It sounds like you have a great hematologist. Right now, still not being "officially" diagnosed, my primary care, Dr. Premier, doesn't think they would take me seriously yet. On top of that, he doesn't know who to send me to. I live in Atlanta, so you would think there would be some doctors who have treated porphs before, but apparently none he feels comfortable with. Emory is a large university here that also has a reputable hospital, and out of 40 hematologists who practice at that center, 2 were interested in porphyria but neither had experience treating a patient. Par for the course. For now, my doctor has phone conferences with a geneticist with Mayo in MN and a liver specialist who has treated a handful of porphs before, located in Birmingham, AL. For now, I have a pee jug ready for collection as soon as I feel like I'm going to die. Thankfully I have felt much better since living like I have the disease, but that doesn't get me to have an attack and not having an attack doesn't get me a diagnosis. Wow, this is a lot of shit we have to go through. If you wouldn't mind, please send me your doc's info and maybe I can contact her for a phone consultation. janmeveningred@gmail.com

  5. Interesting. I stumbled upon your blog about a month ago while trying to find answers via google regarding my stomach issues I'd recently had (yet again!) when I came upon the disease of porphyria that I'd never heard of before.

    The doctors couldn't seem to find anything wrong with me, despite 2 days of tests of various kinds.

    Sooo.... I waited until I wasn't feeling well again and decided to try the sun test. I peed at 11AM this morning (nope, not clear yellow as it should be to begin with considering I've been drinking copious amounts of green tea as of late) and now, only about 3 hours later it's a lovely 'rust' color.

    My sister and my niece suffer from pain far more than I do, tho I tend to be more light sensitive than they are and have slight issues with the sun as far as itchy welts. I'm thinking they'll be better test subject for formal testing than I am.

    I can't wait to see what color my pee in the jar is by late tomorrow morning. heh.
    Good luck with it on your end!

  6. Took ages for me to be diagnosed...even spent time in a mental institution telling Dr Liebling about my childhood as they could not find what was wrong with me. Only when I was paralysed and my sister was admitted to another hospital was I diagnosed. Simple DNA testing can confirm this condition. Found it came from my father, one sister has it and I have passed to my daughter. Since diagnosis I do not worry about changing diet as only thing setting of an attack is missing meals or taking medication that is unsafe for porphyria suffers. As to the wee test....under darkness it actually turns purple rather than rust...I know, mine did. Hospital used to cover with bin bag and see it change

  7. Re last post...I have Acute Intermittent Porphyria, therefore no sensitivity to light as that is one of the other types (I think there are 7). Was told to avoid alcohol, but drink moderately on occasions without any problems...was smoking at the time (now given up) but that had no effect on me either. Since diagnosis I have had no attacks as I am careful with any medications and eating regularly.

  8. Hi. I found your blog during an internet search. Is there a way to contct you privately to ask you a question or two, or would you rather not do that? Thank you. It's pretty sad, isn't it, when a person can't get answers from the medical profession and has to turn to someone with a particular illness?

  9. Jane, I don't know where you live, but genetic testing isn't "simple" if you have no health insurance and no money to pay for it.

    I'll just ask the question and hope somebody knows the answer...My daughters and I have been sick for 5-11 years (didn't all get sick at the same time). One daughter has seizures when 1) dieting; 2) drinking; 3) stressed and 4) taking certain medications. I REALLY think we have one of the prophyrias. We live in the US and have no health insurance and no money. We can't convince a doctor to test any of us. My question is: do you know whether or not there will be ill effects if a person who does NOT have porphyria is given hemetin?