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.
My pee is the same color! Thank you for the pictures.
ReplyDeleteMia,
ReplyDeleteHave 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!)
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.
ReplyDeleteHey, 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.
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
ReplyDeleteInteresting. 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.
ReplyDeleteThe 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!
D-S
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
ReplyDeleteRe 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.
ReplyDeleteHi. 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?
ReplyDeleteJane, 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.
ReplyDeleteI'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?
I just did the pee/sun test today but had my husband pee into another jar and we set them side by side. The color change is like night and day between the two samples just after a few hours.
ReplyDeleteI've had 8 episodes now. One per month since November, 2016. I didn't go to the Dr. until the 6th episode as it was clearly a pattern by the 3rd...after the 4th was like, O.k. I will go to the Dr. now. The Doctors withheld any kind of pain management while they ran tests. The new medical credo is NO PAIN MEDS (Narcotics) without a definitive diagnosis. I have gone through $4k out of pocket in 3 months for all kinds of GI testing and probing to rule out the obvious. After my 5th "episode" (as I like to call the assaults on my abdomen), I was explaining to a friend (in a public setting) what I had just gone through (the pain, the pattern, the endless hours of vomiting) and a stranger interrupted, as she had been listening in, and said, "My daughter in-law has those same symptoms! It took 1.5 years but she has finally been diagnosed with a very rare genetic disease called Porphyria."
I couldn't believe my ears...my brother has Porphyria but not those symptoms. He gets blisters on his hands when he is in the sun. I was fairly devastated in that moment to think I could have Porphyria...but of course, I knew that there was a good possibility of that being real.
When I next spoke to the GI specialist, I told her of that conversation. They ran porphyria tests but not during an "episode" (how would I know that part yet?). When the tests came back they were all negative results (the GI including the porphyrin and PGB), I was dumbfounded...so I started hitting the books. I quickly realized that the tests have to be performed in a timely manner which they weren't. The GI department informed me that the case was closed. All tests were negative including Porphyria. They emphatically stated that it was the conclusion of the GI department, including the hematologist and endocrinologist that I did not, in fact, have Porphyria. Case closed.
I wrote to the main GI doctor and said I had doubts that the Porphyria test was conducted correctly. She responded case closed again. I said that I wanted a referral to speak with the hematologist (lots of gate keepers here in America). She said No at first and I responded, O.K. but I have so many questions that are out of your scope...but, I guess I'm on my own with this. I will deal with that. She later wrote to me and said that she would put in another referral to the hematologist. A phone conversation was scheduled actually this morning. The result of the conversation is that blood was drawn for my DNA to be tested this afternoon. Additionally if I have another "episode" whether the results are back or not, the order is for me to go to the ER and they will know from my chart that I am to receive heme and D-10 (carbohydrate) treatment to stem the attack on my system as well as pain meds to help me cope. I am feeling very grateful tonight that this has turned around and wanted to share it with all of you who are suffering as I have. Thanks for all of your input. It has greatly helped my spirit to know I am not alone with this.
I have known about this test for years. You are correct, no company want to invest dollars unless it is profitable. The system likes to use broad brush strokes to correct and issue.
ReplyDeletePresque Vu,
Karl N.