This is and was and will be my story. I’ve been diagnosed with a rare disease, Type 2 Acute Intermittent Porpyhria, and have the battle wounds to show for it. Sitting around during my recovery after my most recent attack, I went through waves of being really freaked the heck out that I have an actual disease with a name and all, and will be forced to wear a stupid little Med-Alert bracelet and change my life forever. And then I went through waves of laughing in the face of morphine and reglan and flomax and pain and two-week-long constipation and confusion and IVs and medical bills.
So while I’m of very sound mind (only influenced my 60 mg of narcotics dailly,) I’ve decided to continue laughing my way through it, and invite the world to come along. Visit here often to laugh at my bodily functions, and find out why in the world I have a disease found primarily in indigenous Swedes. It’ll be swell. I swear.
the adventures of sabrina: porphyria and all. 
Hi,
I have been wanting to write for a few days now but could not find a way to contact you on the blog, other than to comment. I would like to pass on some things about porphyria from my own experiences. I was dxed many years ago, but have so much I want to write about, it will not fit here 🙂 Email me at:
myname(at)porphyrins.org (I did it like this to try to avoid spam if I can)
Angelique
Hey there. I love your blog. I don’t love that you’re sick…but I love how you write about it. I have been wondering if I have AIP, so found your blog when researching it. My symptoms are not bad or obvious, and so my docs aren’t as curious about AIP for me as I am. One thing I can’t find an answer to: Will porphyria cause you to leave behind purple/dark pee residue in the toilet? Do you know the answer to that/have you had that? My pee leaves a purple/black residue, but the couple of times I’ve left my pee out in the light, it didn’t turn colors. I don’t know. It’s weird. Anyway, you might not feel good enough or might not have time to answer my question, which I completely understand…in which case, just know that I really appreciate your blog and the spirit in your posts. I have a chronic disease too (ulcerative colitis…not that rare, but not well known or well understood either), and I know how easy it is to get down in the dumps (pun intended) and feel defeated.
Hi Karen,
Sorry it took so long for me to get back to you. It’s been a tough few weeks. Blog report coming soon (maybe later tonight or tomorrow) to explain.
AIP is known for doing cool things to pee. Like turning it various shades of wine and/or beer. Purple, red, maroon, burgundy, black, even green are all colors I’ve heard other porphies use to describe what happens. For most, this colorization happens only during attacks, but I’ve heard from a couple of folks that their urine is dark most of the time. As for the residue, I had something like that during my first bad attack. My pee had become very dark reddish brown, and there were chunks floating in it. The nurses in the hospital thought they were blood clots, but a doctor explained that it was, in fact, the porphyrins sloughing off the lining of my bladder. This could be what you’re experiencing.
Not all porphies can make their urine change color in the sun all the time. For some it only happens during an attack. Try the trick when you’re actually experiencing what you believe to be symptoms and see what happens. If it doesn’t work, it doesn’t mean you don’t have it, bu you may just not be having severe enough attacks.
My advice is to find a doctor, preferably a hematologist, who will take you seriously, and order a urine test that is done correctly. This means that the urine has to be in a light-controlled situation, and no preservatives can be used. Cold shipping is preferable as well. Try contacting someone at the American Porphyria Foundation for details about proper testing technique. It’s vital to understand this, as false negatives happen often.
Good luck, and thanks for reading! Let me know what you find out!
Thanks so much for the reply. So…to update, not feeling too great today, and noticed the dark urine color again. It’s weird, it’s like it’s yellow when it comes out but after it sits for just a minute or two, it gets darker and looks like the dark part is sinking. So I collected some urine in a clear plastic bottle and put it in the sun in the back yard. This was around 11 am. Just looked at it, and sure enough…it looks like tea now. So my question now is, is there anything else that would cause this besides porphyria (that you know of)? 😦
Karen,
It sounds like porphie pee to me! I’m not an expert on other conditions, so I cannot tell you for sure that there is no other disease that will discolor urine. In fact, there ARE meds that do so, but if you can rule out meds as the cause, I’m gonna go ahead and say that your chances are high. Porphyria is known as the purple-pee disease, after all.
You should also know that it’s not just ab pain and nausea that are symptoms. There are a SLEW of them, and you should definitely research them and compare to your life. You may have an aha moment. For example, lots of nuero- and pyschological symptoms can occur, like irritability, depression, insomnia, muscle twitches, numbness/tingling, aches and pains, fatigue, etc. Some folks never feel the ab pain, but their disease manifests only with depression and hallucinations or something. Take some time to think through all aspects of your mental and physical well-being, and list anything, even things that may seem unrelated to porphyria, and discuss with your a doctor who takes porphyria seriously.
Keep in touch!
My doctors at Hopkins think I have porphyria. I had a large outbreak in April 2009, so they have good reasons. I have an extensive medical history the past 5 years. I can’t believe I came across a web site of someone with my name and porphyria! You have my e-mail if you are interested in conversing. I am in the process of doing more biologic testing and gentic testing to get my type, so would love to hear from someone on who has already been there.
Hi Sabrina,
Good name.
I’m sorry you’re experiencing the joys of porphyria. It truly sucks. I explained in my reply to Karen (above) that it’s important to make sure the tests are done properly for the results to be correct. Make sure you stay on top of the docs to see that they’re handling your urine properly. It’s hard to get a positive result under the best of circumstances, expecially if you’re not in the midst of an attack when the urine sample is taken. Like I said to Karen, the folks at the American Porphyria Foundation can help with this, if you haven’t already picked their brains.
Good luck, and let me know how things turn out!
Thanks for reading Sabrina!
Hello,
Have you ever had an ammonia smell on your skin when using soap and water? If so, what is this? Is it a reaction to something unsafe in the soap for those with an acute porphyria, or does it have to do with something on the skin itself — perhaps uremic frost activated by the soap and water?
Thanks,
MF
I can’t say I’ve smelled ammonia necessarily, but I’ve smelled some pretty pungent odors coming from my body. Most notably while in an attack. The first time I thought I smelled strange because I was in the hospital with who-knows-how many pharmaceuticals pumping into my bloodstream. I was super sweaty and it smelled awful. Not like normal sweat at all. But in another attack, I stayed at home, and was only on morphine, and it smelled the same as the first time. So my conlusion= Porphyria makes me smell bad. I wish I knew more to help you out with that, as I’m sure it’s maddening.
Hi Sabrina! I am currently awaiting my Porph results…after 2 years of being sick. Hoping to get them soon so I can move into treatment and maybe stop living off of Hydrocodone. I found your blog last night while trying to find more research (besides the 3 websites out there) and I love you already! I am interested in hearing how your heme treatments have been and what the “new solution” your nurse came up with was. Hope you are doing well.
Best,
Jan
Thanks for reading Jan. You’ve motivated me to go ahead and write that follow-up that I’ve owed the blog for weeks now. Look for it later today. I’m sorry you’re sick, and I’m sorrier that porph is something that seems to stump so many medical professionals. It’s a story I hear all the time: Someone has symptoms that match up perfectly with porph, but docs don’t want to believe it, and insist on medicating with unsafe drugs, making the person sicker. I don’t understand why so many doctors are resistant to diagnose it, but keep up the work! On a day when you’re feeling really bad, pee in a glass jar, sit the jar outside in the sun, and take pictures every 20 minutes until it looks like big jar of pinot noir. Then tell the docs to put THAT in their pipe and smoke it! Good luck to ya!
I hear ya! For so long doctors were looking at each individual symptom…and also putting in their notes that I needed a psych evaluation. No I’m not depressed Dr. Asshole, I’m crying because I’m in severe pain, have no memory, break out in a rash, and all you can think about the picture of my pee I brought in to prove to you that things aren’t normal is “oh, it’s the color of a penny”. (I would post this picture, but couldn’t figure out how) Getting into another attack in the past few days, and noticed that my vision is getting worse. I now have black spots a lot. I’ve also been experiencing leg numbness, like it’s asleep, but only in my left side. I’m wondering if this is the muscle weakness I’ve read about. Have you or any other porphs out there had this?
Ugh. The numbness. I’ve had a numb patch on my right thigh for years, and never knew what it was. Nothing major, just strange. But in the last few months the numb patch has grown and there is now one on my left thigh. During an attack, my toes go numb, and on any given day, my pinky and ring fingers like to get all pins and needles on me.
I have pretty bad nerve pain in my left hip and leg as well. I thought for a long time that it was sciatica, but it’s not, apparently. It’s terribly painful, though, and makes child’s pose really sucky in yoga.
The muscle weakness is something different altogether. It hits me during an attack pretty bad. My legs get all wobbly and I can’t hold on to stuff.
But yeah, definitely all porph shit. Pretty much everything is. My husband and I blame everything on the porphyria now. As in, “My eye keeps twitching! It’s the porphyria.” or “The sound of you crunching those peanuts makes me want to punch you in the face! It’s the porphyria.”
Hi Sabrina! I found your blog the best thing Ive read in awhile. Im concerned I have this after having 3 surgeries and having every symptom (I havent had seizures though which Ive read a little about)- I am supposed to do the 24-hour urine but the lab gave me 2 containers? One with HCL and one without and now Im afraid Im not supposed to use both and I feel an attack come on. They have almost every month for 3 years around the same time. I have neuro symptoms as well as the abdominal pain but never linked the 2 until recently. I would love to ask you a few specific questions. I appreciate any help- my email is cmmasztak(at)aol dot com. I think Ill need to start the test in the next 2-3 days per the cycle its been on. Your blog is more informative than anything Ive read. Thank you:)
Sorry I didn’t get to you sooner… I was out of town for a few days and only was able to access the internet with my phone. Have you taken the test yet? Unfortunately, I don’t know much about that part, since it was done for me (improperly, I might add,) in the hospital. I’m lucky I got a positive result, despite the fact that they just took urine out of the cath bag that was hanging in direct sunlight. It makes me wonder: If under those conditions I still got a positive, what must my levels REALLY have been!?
What surgeries have you had? Gallbladder? I swear, there’s not a porphie in the world with a gallbladder besides me. It seems to be the first thing docs want to jump to with any abdominal pain.
You say you’re having lots of attacks. Are you taking glucose regularly? It may help you get through them. NOW brand sells bags of dextrose powder (dextrose is just another name for glucose,) and you can dump spoonfuls into water or lemonade or whatever. I recommend drinking up. If you DO have porph, it should help. If you DON’T have porph, I don’t think it can hurt, but I suppose I should disclaim by saying I don’t have any medical degree or anything 🙂
The APF is a good place for questions, as is the yahoo group. Links to both can be found in my latest post. I’ve found more answers to all my questions through those two sources that from all my doctors combined.
Keep me posted about your results!
Sabrina,
Your blog has inspired me. I have received most of my information from blogs and forums, so to help others out there looking for their answers, I’m joining the crowd! …and trying to keep my ranting and pee pictures from my husband, he’s kinda sick of hearing it over and over… I think it’s fitting I begin during Porphyria Awareness Week, trying to get more info about this disease out there can only help! Hope you check it out… embarrassing pictures and all, it’s all for the cause!!!
http://www.aroyalpaininmyass.blogspot.com
Hi Sabrina, thanks for the shout out, and for contributing to awareness week. It’s wonderful of you to reach out to others when I know you’re going through so much yourself. Be well!
–Mira
Hey Sabrina,
I’ve spent the past few hours reading through your blog and I just wanted to leave a comment. I’m a biotechnology student currently in my third year of study. My career goal is to work on diseases such as Prophyria. I’m fascinated by rare conditions and feel that more attention needs to be placed on them, especially by researchers. I firmly believe that cases of rare disorders are just as worthy of attention as cancer and autism and HIV. If people are suffering, there is cause. I know that my position is not one that is in line with the goals of businesses (and pharmaceutical companies are, indeed, businesses) but I just wanted to say that I admire your courage in dealing with a medical field that generally refuses to admit that rare diseases exist (they wouldn’t be diseases if they didn’t exist, after all) and in moving on with your life, becoming a mother for the second time, and in pursuing a healthy life style, obstacles and all. It is people like you who have the strength to inform the rest of the world about something that 99% of the population has never heard of who give me the inspiration to pursue my career goals in hope that one day, I will be able to be that helpful specialist, or be one of the names behind a cure. I wish you the best and hope you have a happy, healthy second child without complication.
-Jackie
I have AIP. First I would like to know what type 2 AIP is? I was diagnosed with AIP the first time in 1972 and many times since, as doctors do not like to treat based on another doctors diagnosis. I was in a coma when I was 8 years old and again in 2004,with respiratory paralysis and other complications to numerous to write here.
I recently decided to become GLUTEN FREE after all I had tried to live with constant constipation and diarrhea vomiting and pain. It has helped so much and I noticed you mentioned GF site. Please elaborate. Ruth
Hello Sabrina,
I am a junior in high school, and I am researching porphyria. I am developing assistive technology and an outreach program to help individuals with the disease, and to raise awareness about the rare blood disorder. I was wondering if you would be willing to share some “everyday” tasks you do that are difficult. Also if you could just share whether or not it was difficult to find a doctor who knew about porphyria. From what I can tell, not many docotors know about porphyria, which leads to misdiagnosis and complications.
Thank you for your time,
Alyssa
Hi Sabrina, That is quite an undertaking for a high school student. You are right that finding a doctor is very hard. It then becomes the AIP patient’s job to educate him or her. Many doctors just WILL NOT take it on. I have had both experiences. Every day is a challenge because this disease causes attacks with no warning. During an attack you can go from belly ache to full blown respiratory paralysis and coma. I personally spent 21 days on a respirator and 3 months in a coma. It took about 12 months to “get back to normal”. I wish you the best researching the porphyria’s. I am currently involved in a study with the porphyria experts via Mount Sinai, NY genetics. It will maybe help others who will be diagnosed in years from now. Sincerely, Dee aka Ruth
Hi there,
So I just stumbled across your blog while sitting in a hospital bed due to a recent attack from my AIP. I was diagnosed about 7 years ago after having my first attack after a surgery and many weeks in the hospital with Dr.s trying to figure out what’s wrong with me. I’m 34 with 2 kids and haven’t had an attack in 2 years until 3 days ago :(. Can’t wait to read more about your story but wanted to stop by and inform you that you’re not alone. I’d love you to contact me with any questions or I may also have some for you.
Thanks for the story
Leann
Hi Leann, How are you doing now? It’s been a month since you posted this… Have you gotten yourself back to normal yet, or are you still smoldering? An attack with kids is the worst. I always am wracked with guilt when I’m laid up and not taking care of my family… but someone’s always there to remind me that I can’t take care of them if I don’t take care of myself. So I’ll do that for you now: Take care of yourself!!!
Hi leann, I was 32 when i was diagnosed also had 2 kids. I am 72 now and the kids tested neg. so far. I still do not trust their status and every time one gets sick I wonder… I still have frequent attacks even though I am well past menopause, even though I was assured by several doctors that after menopause it would get better. Take care and best wishes to you and yours.
Dee aka Ruth
Well life sucks with it! My mom 76, sister, myself and all 5 of my kids have acute, one of my children has been pulled from school due to attacks. Hospital trips are the norm. Failing organs…part of the same. 4 gallbladers out one sever liver damage and one kidney damage. Fun…eh? Kids range from 22 down to 5 yrs. We never even knew til by chance while 16 yo was in hosp, she had purple pee. So genetic testing in progress. Tooo many years doctors said stomache virus or growing pains….or plain I just dont know.
Hello. I just found this Blog, and I was just at a Hematologist today for the first time. My GI doctor did the original 24 hour urine and two enzymes came back abnormal, however not bad abnormal, it was not done durring my last, “attack” that had me in the hospital for 6 days suspecting a bowel obstruction. I laid there for 6 days with a NG tube in and had a bowel prep, colonoscopy, ct scan, and a ERCP, then three weeks after discharge, handed the container. The hematologist was leary of diagnosing Proph. even though I have EVERY SYMPTOM except seizures. I am also a Peripartum Cardiomyapthoy Survivor. In 2008 I delivered my daughter at 33 weeks and then went into heart failure, was arilifted to another hospital, put on life support and given less than 10% chance of survival. Well I did, and I have a perfect 4 year old, but have been having Porph pain for the last 10 years, and had my appendix removed, no infection, my Gallbladder removed, no infection, and every time I went to ER for severe abdominal pain, they would find an ovarian cyst 3 cm and say it was that. Now with the bowel obstructions coming more frequently, they have to do something diagnose me with this because they can’t blame the heart failure anymore!! I also had three strokes when I was on Life support, so that was a big one too, saying my muscle weakness and falling was all complications from the strokes. This stuff is rough, I am in a support group on Facebook for PPCM, and I would not be here today without that, I am just glad I found this also for the Proph. Looking forward to reading more.
I am forty-eight and was only diagnosed two years ago after a lifetime of hell that only seems to be getting worse. I “live” with my mother who just threatened ( not for the first time) to kick me out becase one of her “friends” triggered an attack in me and then overheard the verbal row and threatened to have me “picked up”. This person has never even met me (I have been a shut in for years and am a semi-invalid who spends twenty hours a day in my room, not bothering anyone. )I came out to get a bottle of hot water so that I could make tea in my room ( it is freezing here) and all hell broke loose. Now I am terrified that someone will come and I have not done anything.
I have tried to get disability benefits so that I could get a tiny place of my own but I have been turned down and even the lawyer said that Porphyria cases do not have much luck.
I am all alone. This condition isolates you and makes you so vulnerable because no one understands ( not even your own mother who caused you to have it in the first place) unleaa they have it themselves.
I am so afraid.
Hi Sabrina:
I am so sorry that you have porph.
Here in South Africa, we are officially the most porphyric country in the world (VP most often supposedly.)
In fact, a recent brilliant book presents evidence that Oscar Pistorius probably has porphyria. That’s what I’d like to relay to you. The same author has 2 other books on porphyria that helped me immensely. This is Steven Rochlitz, PhD. and his site is wellatlast dot com. Take a gander at the pages for his bigger book on porphyria; PORPHYRIA: The Ultimate Cause of Common, Chronic, & Environmental Illnesses, 2nd Ed. With Breakthroughs in Diet, Supplements, and Energy Balancing
And then there is a new one entitled “Crucial Updates to Porphyria.” There’s a special on getting the 2 together.
See the Downey-Rochlitz hypothesis that 20% of womankind has the genetic predisposition for one or more of the porphyrias, which manifests after toxic exposures. So we are far from alone!
Please take a look at the testimonials page at Rochlitz’ website, where patients and physicians have left there feedback on his books, mostly the bigger porphyria book.
For me, Professor Steve’s books (I ended up getting all 7) were a godsend. There is so much in his books that are nowhere else. Literarily there are hundreds or thousands of new, important things in each of his books, if someone is ready to take charge of their health after medical evaluation.
Full disclosure: I have never met Rochlitz or paid him anything other than buying his books. (Neither has he paid me anything.) But I have spoken with him on the phone when he called me several times from the USA! He thanked me for getting all his books and the extra ones I gave to family members and some friends. I certainly never did that before with any books in my life.
All I know is that after following the advise and methods in Professor Steve’s books (mostly the bigger Porphyria book), at 65, I am finally well for the first time in my life.
Please consider for your sake. Take care.
Thank you thank you thank you for this information! I am willing to devour whatever info I can get on the disease.
I will certainly look into the books. Congrats on your wellness, and taking charge of your health. It’s so important for people to be their own advocate and actively participate in their health care plans. Sounds like you’ve done that, and I’m a work in progress, but hopeful that I’ll get a handle on this sooner rather than later. I’m also very interested to read more about environmentally-induced porph. I greatly appreciate the resources. Take care!
Great Sabrina!
We have some things in common. I raised 2 children. Don’t ask me how! I suffered from unexplained severe anxiety, pain and illness from any stress much of the time.
Of course that’s among the countless things Professor Steve (that’s what he prefers to be called) explains in his Porphyria books. He would say that stress often equates with extra adrenal hormones and these are processed by the Cytochrome P450 3A enzymes. You probably know (?) that the CYP450 enzymes are heme proteins, so when they are induced, they will ‘ask’ the body to quickly make more heme, which you know then can become a porphyria attack. Of course, at another level, Rochlitz’ books have so many things that might prevent or ameliorate attacks.
But his books are the first and only ones that are integrative or holistic. They are not for someone who wants the magic bullet drug or such. But the things in all his books are here and now.
I would urge you, Sabrina (and everyone else), to think for yourself in deciding, and not to let any one person or group do your thinking…
After all what’s the downside? A few dollars? (Be aware that books at his http://www.wellatlast.com site are not returnable.) And the possible upside? Well for me at the age of 65, it was, or is, feeling, and being, well just about all the time for quite a few months now. Obviously there is no guarantee or promise for anyone else who might do what’s recommended, Rochlitz makes that clear. And many people don’t do anything the book recommends. Just reading them will do nothing, although some people actually expect something from reading, he has related…
So good luck Sabrina. If you get the book(s), and especially if you do the many things in it (or them), I am sure you will tell people here.
Stay well.
LMB
Hi Sabrina-
I noticed you are in Northern Virginia and please forgive if I missed this in the details of your blog, but can you provide a name of a hematologist (would not even pin you to a recommendation, just a name at all) who knows anything about porphyria from here up to Hopkins area. Interest is in both adult and child. Have tried Porphyria Foundation but no results that fit.
Thank you!
I’m sorry I missed this comment! I’m just now seeing it, so sorry. The hematologist I see is Dr Manuel Moraes, in practice with Dr Rajendra, and their office is located in the medical practice building of Loudoun Inova Hospital in Leesburg. When I lived in Alexandria, I saw a wonderful group at Inova Fairfax- Dr Cuevo, Dr Williamson, and I REALLY recommend that practice. All of the doctors I met were wonderful (Cuevo was my main dr) and that website is http://www.virginiahope.com/index.cfm/fuseaction/site.physicians/action/list.cfm. Hope that helps!
I just stumbled on your blog by chance, but I want to say good luck, or whatever is appropriate to encourage you or let you know others out there read this and feel the impact.
Happy new year, you will be in our thoughts.
Kristin