Friday, December 31, 2010

Happy New Year!

It only seems fitting that I ring in the New Year with a sinus infection. It's just been that kinda year. To give a quick update, I have been doing very well... although this causes difficulty when I have nothing to talk about on my blog! I decided to look into my hormones and make sure all of the levels are in optimal range. Don't laugh, but Suzanne Somers has wonderful books that explain the hormones of the body and their functions. Many of my symptoms that I'm still experiencing can be caused by hormone imbalance. So just to look at everything, I did a saliva hormone panel and are awaiting my results.

Other than my new sinus infection, I've been able to return to all of my former activities - sometimes with a bit less energy, but I'll take it! I wish all of you a HEALTHY and safe New Year.

Sunday, November 14, 2010

Where To Go From Here?

On the road to a Porphyria diagnosis, I feel like there are a lot of these signs!

Every day I feel better, which after the year I'vehad is amazing in itself. I recently told my mom, "A coupleof months ago I was happy when I only had a few bad days, now I'm down tobad moments." I've been off of birth control pills (estrogen) for 9 months now... and finally I'm able to do what I want, when I want and still feel good. My old friend Vertigo still visits, but she doesn't stay as long (used to be and isn't as strong. The other day I had a few hours of severe nausea, carrying a plastic bag with me just in case. But that's really my main complaint at this time. Yes, there are other porph things in my life: clusters of small blisters on my fingers and toes, edema (but better since being on a diuretic), headaches, black spots in my vision occasionally.... you get it. But for those who have survived a porph attack, or those that have witnessed such attacks, when you're down to these small complaints, it feels like a victory!

However, with feeling better comes a new problem; do I continue to search for my answer/diagnosis? Part of me says just wait to see if you get sick again and if you do, deal with more testing at that time... after all, that's when my levels will be elevated again. But the other part says do the work - research, phone calls, time on the internet doing crazy google searches trying to find something I haven't already read, seeing new doctors, reading over my stack of medical records again and again - while I'm strong and have the energy to do so.

Many of you have emailed me personally and shared your story. I would say that very clearly, the majority have seen a hematologist. I, on the other hand, have not. It might be the only doctor I haven't seen in the last 2 years! The reason I haven't seen one is because Dr. Premier wants me to see someone who has treated a porph before... well good luck there. Even living in a large city, he hasn't been able to find someone. Many of you have offered to send me your hem's contact info to do a phone consultation, and I'm sorry if I haven't answered you, it's just that I don't really know what to do right now.

So the question is, do I find a hematologist to see/consult with now or just live life and cross that bridge when I come to it? This is not a rhetorical question, I would actually like someone's advise!!!

Thursday, November 4, 2010

A Big Thank You

I just wanted to express my gratitude to the people out there that are reading this crazy blog. As I've typed before, I started so I didn't have a major melt husband was already juggling my many minor melt-downs and a major one might have been the straw that broke the camel's back so to speak.

In the last year or so that I've been sharing my story with the internet, I've gotten really sick, lost my memory, designed and planned my sister's wedding (thankfully I didn't ruin it by passing out during the ceremony...but it was close), can't remember 2009's holiday season, had a battle with almost 30 MD's (see previous post about my thoughts on "MD"), survived a terrible trip to Mayo, coming back around to an old Dr. who actually cares and probably saved my life, and finally getting back to myself. It's truly been a Royal Pain In My Ass.

Through all of this though, I have this outlet and a hope that I'm helping someone else out there. In response to my venting, you readers (which I'm still amazed people are reading my blog!) have been so accepting. I love receiving emails from people that have stumbled across my page, felt a connection, and shared their story with me. Not only are we not alone, but the information we share with each other on diagnostic testing, types of porphyria that aren't commonly known, and ways we are staying healthy is invaluable. So thank you. Thanks for reading my words and stories, and I know you're laughing at my pictures too! But most of all, thanks for sharing your story with me and being there to answer my questions.


Wednesday, October 27, 2010

May Day, May Day!

Yesterday I had a check-up appointment with Dr. Premier. Due to my last doctor's appointment with the M.D. (see previous post) I took my husband and my mom as backup.

The last time I talked to Dr. Premier was right after he had a phone conversation with Dr. Flippant. It was obvious that Dr. Flippant had voiced his opinions about my condition and it was swaying Dr. Premier's view. He slowly changed his mind from a rare type of Porphyria to "not tolerating hormonal changes". I can hear what the phone call must have been like:

Flippant: "Oh come on! Can't you see she's pulling you on a ride?"

Premier: "No, I really think she has Porphyria, or at least something that is causing her to be severely ill."

Flippant: "No way. She's a hormonal 20-something year old girl. She just needs to get a life. All of her tests have come back negative. Send her on her way."

Premier: "Well her tests have been negative, maybe you're right. Maybe she's not tolerating hormonal changes that happen in your 20's...."

Or at least that's how it goes in my head.

Anyway, so I was a bit concerned going in to see him so I took necessary precautions... such as having backup, printing out calendars and writing in all of my symptoms in each day I experienced them (thanks to my OCD personality, I keep a journal of this), a list of questions, and a new attitude.

The appointment started of shaky at best. He began by reading over my calendars I handed to him, asking appropriate questions, and then started to give me possible "syndromes" for each one. I was starting to get upset, and finally said "so I have like 10 different syndromes?" Thankfully my mom stepped in and was my voice for a few minutes as I haven't mastered the art of making your point gently.

In my mind I felt like I am the owner of this ship and my captain just jumped! Surrounding us, treading water, are all the other doctors I've seen yelling at him to abort. May Day! May Day! We're going down...

Mom interrupted my mental naval battle by saying that "we are not convinced that Jan doesn't have Porphyria." That it's too coincidental to have all the symptoms of one rare disease than to have 20 or so different syndromes. That we are thankful for all he has done and we realize that at this time there isn't more he can do... but that we were totally fine with that. In fact, I am doing well for the most part, a different person than I was one year ago, and that I'm going in the right direction.

Seeing El Capitano jump, we had to throw out a life preserver! Thankfully he grabbed hold and we hauled him back on board.

Dr. Premier agreed that it was more probable that I had Porphyria, just a type or mutation that hasn't been able to be identified at this point, due to lack of research being conducted on Porphyria. We ended the appointment (after an hour and a half) by saying that we will continue under the assumption that I have this rare disease, all medications will need to be cleared for safety, and that he would not "officially" give me the diagnosis due to lack of medical evidence and for insurance coverage purposes. I'm fine with all of this and thankful he's back on my ship. I'm not sure where we're sailing to, but we are going in the right direction.... finally.

Sunday, October 17, 2010


This medical journey has led me to believe that M.D. most likely stands for Major Dick.

Dr. Premier said in our last phone conversation that "due to a lack of medical evidence, I could not be given a diagnosis of Porphyria. However, if we explored a reumetological disease (the only type we haven't 'explored') then he could theoretically give me a deferential diagnosis". So with nothing else left as an option, I reluctantly headed to another M.D.

And boy did this guy live up to the name! For blogging purposes he will be referred to as Dr. Flippant, although I am quite tempted to use his first name, last name, middle initial, address, phone number, fax number, a link to his website, a link to his personal bio...

The rules were this: I agreed to go to Dr. Flippant if Dr. Premier agreed to discuss with him personally my case and explain everything I've already been through... in the hopes that I didn't waste my time and my medial insurance's money.

So I make my appointment, complete a novel of new patient paperwork, show up 10 minutes early, discuss my entire health history with his medical assistant - showing her copies of labs, pictures of rashes, pictures of pee, the whole works...and then I meet him. This is how my appointment went:

MD: Hi I'm Dr. Flippant. Why don't you take a seat. (pointing to a chair so he can stand over me, making him feel superior)

ME: (getting off of exam table wearing paper gown) Um, OK.

MD: So I've gone over your records. Why are you even here?

ME: (totally taken aback, thinking he wants a brief history) Well, it all started a couple years ago...

MD: No, I just said I've read your history.

ME: OK, Well Dr. Premier wanted to check for a rare type of Lupus.

MD: Yea, yea, yea. (literally he says this) You don't have Lupus, you've been tested for that already.

ME: (thanks for pointing out the obvious A-hole...Do you think I want to be here) Ok, well...

MD: What I think is going on here, Jan, is that you are on a quest. A quest to find something sinister that doesn't exist. And I think it's time somebody take you out of the medical system so you can start living your life again.

ME: I was very sick, and that's why I'm going to doctors.

MD: You look fine to me.

ME: I wasn't 'fine' just a couple of months ago. When Dr. Premier began thinking I have Porphyria, he took me off of birth control pills, and having the extra estrogen out made a huge difference, but that wasn't long ago. So yes, right now I'm fine.

MD: Well being on birth control pills doesn't affect anything. What are you and your husband doing for contraception?

ME: (oh, are you my OB/GYN now? And what the hell business is it of yours?) Condoms

MD: You know that condoms really limit the male's sexual experience. You should go back on the pill. There's no reason why you shouldn't.

This is where I decided to keep my mouth shut, nod my head, and get the F out of there. By the time I got to my car I was crying, by the time I got home I was fuming mad.

Monday, September 13, 2010

How Rare Can We Go?

Did I not mention in a previous post that I did NOT want to be in that rare 1-3% that DNA would not diagnose? Well I am.

Dr. Premier called today with the AIP DNA results.... negative. 98-99% negative. Honestly, I wasn't too shocked, I never thought AIP totally fit. However, in the last couple of weeks I have been researching the types of AIP and hoping that the results would prove me wrong.

So where do we go from here? No I'm really asking. Anyone out there have an idea?

Well this is the plan:
- go to Rheumatologist because they are the only specialist left to go to. Due to the rash we need to apparently rule out rare forms of Lupus (even though I've been tested for Lupus like 7 times).
- was planning on seeing Dr. Bloomer in Birmingham, AL (specialist in Porphyria) but he doesn't accept my insurance and once I questioned why I was really going (I'm not having severe attacks at this time so he can't see me sick, I don't have a rash he can examine) that visit was ruled out. Oh and he was "too busy" to even talk to Dr. Premier on the phone regarding my case and what he advised to do next.
- if rheumatology tests come back negative, Dr. Premier will proceed with a differential diagnosis of Porphyria.
- call genetic counselor at Mt. Saini tomorrow morning to discuss possible ALAD-Deficiency Porphyria. Yes, this is so rare I can't even believe it's a possibility, but it's either this type or I have a new mutation that prevents DNA analysis.

So that's where I am. I can't believe it. Rare disease was good enough for me.... now I've been catapulted into the rarest of the rare. Anyone else out in porph world been in my shoes?

Friday, August 27, 2010

Happy Anniversary To Me

Today is my one year anniversary of fainting on the treadmill and this whole thing starting... or at least when I realized there was more to it than just sporadic and random illness. I am glad that tonight I am at home watching TV with my husband and not in the hospital, hooked up to morphine and monitors. In the last year I have seen doctor after doctor, scans, tests, and gallons of blood drawn ... but I have not fainted again.

Unfortunately, on this anniversary, I also have to share that Dr. Premier called Wednesday to tell me that both DNA results came back negative. I do not have HCP or VP. Of course I could not believe it. He explained that the team of geneticists and specialists all agree that I do have Porphyria, they just have to find what kind. We had originally ruled out AIP due to the photosensitivity and I had my blood enzyme test come back negative - which typically indicates not AIP. However, Dr. Premier said that they enzyme tests only accounts for 85-90% of AIP patients. So now Mt. Saini is testing my DNA for AIP.

I admittedly have not done much research on AIP because I never believed I had it. So now I am playing catch-up. There are three types of AIP and some can involve skin rashes...maybe I do have this type after all. I also didn't think I had AIP because of the severe pain that comes with these attacks. I realize I had severe pain, but didn't think it was as bad as what I've read from other patients. Dr. Premier thinks otherwise, reminding me of the severity of my last attack when my memory problems began and my leg went numb. My mom also told me that I might have a large pain threshold (when I broke my arm as a child I didn't complain about it for days and only went to the doctor when she saw I wasn't using that arm regularly). Realistically, it's probably a combination of a lot of things, things that don't matter, as long as I can get my diagnosis.

The worst situation Dr. Premier thought we might be looking at is having such a rare mutation that research cannot test for at this time. Again, Porphyria is known as an "orphan disease", meaning that it is not financially beneficial for medical research to be done due to the small amount of sufferers. What this means for some patients (possibly me) is that there are people out there, sick and suffering, that are desperate for a diagnosis and help, that cannot receive it. This disease is already very rare, and these people are the most rare of this disease. These people lay in the 1-3% that DNA testing cannot account for.

So my blogging friends, it will be another 2-3 weeks for the DNA test for AIP to come in. In the mean time, if anyone has additional information on the different types of AIP, please send them my way!

Monday, August 16, 2010

Porphyria Community

I started this blog for myself. A way to deal with the sickness, the unknown, to tell my stories to someone other than my husband over and over. But what I didn't expect was to find a community of other Porphyria patients and the caring and understanding that comes with that. I share my story in hopes of helping others. I post embarrassing pictures because I know most of you have been there too, and are wondering if this is an experience shared by other Porphs. My rash pictures in particular were posted because I couldn't find any images about Porphyria rashes besides the common VP blisters. I started this blog to put information out there that I couldn't find.

In return, I have found something that I couldn't find in all the research, doctor's visits, or hospital stays... a community of Porphyria patients. You have emailed me your stories, asked me how I'm feeling, and taken the time to read my blog and laugh at my pictures. You live in California, New York, West Virginia, and even Switzerland. You are my new friends and the only ones in my life who truly know what I've gone through.

For this post, I want to thank you. Thank you Porphs for reaching out to me and sharing your stories with the world. There's not much out there about this disease, and what is out there doesn't encompass the true nature of an attack... or the aftermath. So friends, please post comments here with an email address or facebook page that others can reach you at along with the type of Porphyria you have. This way, we all have someone to talk to, to share with.

For those on Facebook, there is an American Porphyria Foundation group that is really great. Hundreds of Porphs are there sharing treatment plans, answering questions, or just needing support.

Hope all of you are doing well! :)

Wednesday, August 11, 2010

All It Takes

After everything I've gone through in the last 2 years (well really the last 25 years) all it takes is 4 small viles of blood. That's it.

I went in to Dr. Premier's office Monday morning for my DNA blood draw. I signed some papers, confirmed that the shipping box was 100% light-blocking, and had my blood taken. It might have been the easiest doctor's appointment I've had in a long, LONG time.

To be honest, as I have been the entire blog...even the embarrassing things, symptoms, and yes, pictures... the DNA testing is expensive. No, insurance does not cover it. No, I do not understand why nor has it been fully explained to me... but at this point, I don't care. I need this diagnosis.

Now, like so many times before, I wait for the results. It will take 2-3 weeks before I hear anything. In those weeks I'm praying that I'm in the 97% (DNA testing for Porphyria yields positive results for 97% of Porph patients). And really... I already have a disease that is highly unusual... what are the chances of being in the rare 3% of a rare disease? If I am, I'm totally buying a lottery ticket.

Friday, July 30, 2010

DNA Testing

Since I have not gone into another attack after stopping my birth control pills (estrogen) and changing my diet, I can't get my diagnosis. So after talking at length with Dr. Premier, we have decided to send my blood off to New York for a stay at Mt. Sinai's genetics department.

Mt. Sinai is the ONLY facility in the United States that performs DNA testing on all of the Porphyria types. Thankfully, we have mine narrowed down to VP or HCP, so only these two tests will be ordered. I should know my diagnosis in 2-4 weeks.

Sidenote: DNA testing is 97% accurate and can sometimes miss rare mutations of Porphyria. After everything I've been through...please don't let me be in that 3%.

Monday, July 26, 2010

While You're Down There... Can We Talk?

Today I had an appointment for my yearly OB/GYN check up. I was slightly nervous telling my doctor about this whole Porphyria thing. All of the doctors I have seen look at me like I have multiple heads, write vigorous notes, and start flipping through medical dictionaries/reference materials/medical journals...the like. Beyond my concerns that my OB/GYN, lets call her Dr. Gyno, not having much knowledge about this admittedly rare disease, I was more worried she would say that she thought I would need a different doctor that works with more high risk patients and that she didn't think pregnancy would be a good idea for me... which I have heard from other Porphs.

However, my appointment took a turn I didn't expect. Rather than Dr. Gyno being shocked about my new medical information, she barely blinked! At first I wanted to ask if she had heard me. But then she said, "oh, ok. Well I've had 3 Porphyria patients before." It's an OB/GYN miracle I tell you! So rather than shocking her, I was the one left speechless.

Beyond that (I know there's more) Dr. Gyno proceeds to tell me that while she was a resident, her mentor was one of the leading experts in the USA for Porphyria. Unfortunately he has since passed away, but that she learned a lot from him. AMAZING!

She and I had a great talk about the best options for birth control (since many contain hormones that are triggers for Porphs), planning future pregnancies and that it might be best to have a team in place before my husband and I get preggers, and she is even going to help Dr. Premier in finding local doctors that have knowledge/experience in treating Porphs.

I cannot believe my luck and am feeling so relieved that not only is Dr. Gyno NOT scared off by my Porphyria, but she has knowledge, experience, and other contacts to help me.

Wednesday, July 14, 2010


It's been about 5 months since I left Dr. Facade's practice...unbeknownst to her. After reading in my medial records that she had been writing I needed a phychiatric evaluation, that I seemed severely depressed, and could not "appreciate" my edema yet telling me to my face that she understands what I'm going through, that she's going to get to the bottom of this, oh and prescribing me potent diuretics for the edema she never thought I had.... I fired her.

So yesterday I get a voicemail from her nurse (who was always a bitch to me, probably because the whole office thought I was a nut job) asking for me to call them. She continued to say that they had not received any medical records from my visit to the Mayo Clinic. Dr. Facade has been reading more into the condition "you think you have" and the porphorins (and she didn't know this word and tried to pronounce it at least 3 times before giving up). So If I could please call their office so they can contact Mayo and get my records.

I am preparing a letter to send to Dr. Facade. It will go something like this:

Dear Dr. Facade,

I appreciate your concern in my health care now that almost 5 months have passed since I last contacted you. As you know, I did visit the Mayo Clinic after almost 6 months under your care. In that time, you were only able to send me on a wild goose chase to Atlanta specialists, therefore jacking up my medical bills but leaving me with no answers.

As you have never referred a patient to Mayo before, I'm sure you are unaware of their medical records policy. This policy clearly states that new patients must bring hard copies of all medical records pertaining to their condition. In accordance with this policy, I obtained my records from your office. I bet you didn't expect me to read months of your patronizing notes...but I did.

I know how excited you were at the thought of having a Porphyria patient under your care and your disappointment when your test came back negative. I'm sure by now, with all the "research" your nurse referred to, you have learned that you did this test incorrectly. I'm happy to report that I do have porphyria and am working to determine my exact type. Unfortunately for you, you're fired. You no longer are privy to my medical records and do not have permission to write to any medical journals regarding my case.

Once again, thank you for your recent interest in my health, but it's too little, too late. Good luck with your practice.

Your only hope at treating a Porph

Saturday, June 26, 2010

An Old Friend

She's an old friend that I no longer want in my life but don't know how to tell her. I don't speak her language. She is silent but demanding. When she's around, she calls the shots. If I want to work out, she gives me enough time to feel alone before appearing and telling me to stop. She has an entourage - fatigue, nausea, stomach cramping, headache. She's an old friend that comes and goes with free will, but I don't want to be her friend. Her name is Vertigo.

Wednesday, June 23, 2010

New Bling

I've been receiving emails from readers (which I love and adore so please keep them coming!) and you have been asking what's going on with me today, if I have my diagnosis... and all that jazz.

No. I have no "official" diagnosis right now. As I previously posted, Dr. Premier knows and recognizes that I have this disease but cannot give me treatments until the proof is in writing. However, he did tell me on my last visit (about a month ago now) to order a Medical Alert bracelet and to start carrying a Med Alert card with me. So that's what I've done.

The front of my bracelet has my first name on it in large letters next to the classic red Medical Alert symbol.

The back has "PORPHYRIA" in all caps. If I knew what kind of porphyria I have that could go here, but I don't... and the types of porphyria are quite long, so maybe it wouldn't even fit! Below that, it has my D.O.B. followed by "See Wallet Card" - which is full of additional info. The last line has I.C.E. (in case of emergency) and my husbands phone number.

I have been wearing this since it came in the mail. I ordered it here and have been very pleased with the quality. I feel like I do have this disease... and I'm working on getting stronger, feeling healthier, and getting that fucking diagnosis so I can receive treatment.

Sunlight Urine Test 2

With no diagnosis, I wanted to prove to Dr. Premier - and to myself because at this point I'm discouraged, depressed, and starting to think I might be making all this up - so I did another Sunlight Urine Test. This time, I left the urine out in the sun for 48 hours and documented with photos every couple of hours. At the time, I didn't realize what a drastic change it was, but looking at the step by step photos, I'm now taking back my moments when I second guessed myself. I do have Porphyria, and here is my proof.

Unfortunately, photos don't get an official diagnosis. I did bring these to Dr. Premier and once again made him answer what else in medical history could make this happen to a person's urine. And again his only answer was porphyria. I feel like he wants to give me a diagnosis...he's not one of the mean doctors and I truly feel like he's on my side. However, his hands are tied in a way, because the medical community needs documented proof. The geneticist in Rochester, MN (who has been consulting Dr. Premier for a few months now on my case) says that I must have elevated porphyrin levels of 10 times or greater in order to receive any diagnosis... and without that I cannot receive treatments because they are too dangerous.

Typical treatments include a 10% glucose infusion via IV and/or heme infusion. I thought that glucose could be administered without a diagnosis, but with strong suspicion, but Dr. Premier looked into it and explained that the infusion is not the typical glucose IV that any patient would receive in the ER... in fact, it can be quite risky to a healthy person.

The only thing I can do is wait for an attack and perform another 24 hour urine... and pray that I'm sick enough (so ridiculous) to get the official diagnosis. After all, between attacks my levels are 6 times higher than normal... so hopefully I can reach that magic number - 10.

Thursday, June 3, 2010

Close, But No Cigar

I received the results from my porph screen, read about it here. This is what it says:

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?"
Dr: "Nothing."
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.

Wednesday, June 2, 2010

Porphyria Chart

I found this chart, featuring the types of porphyria, the associated enzyme, and location of synthesis, during my research. This chart in particular is useful because on the left hand side it shows where the porphyrins are excreted - stool or urine. Please pass on to anyone you know who has, or thinks they have, porphyria.

Tuesday, June 1, 2010

No, It Came Out Looking Like That

As I continued my quest to receive a diagnosis, I became a little too interested in my pee color. I started to research more about porphyria and triggers for attacks and began to live like a porph. By doing this, my overall health started to improve. Now I don't want to give the wrong impression, I was still struggling, but the daily dry-heaving, extreme headaches, diarrhea, and abdominal pain slowly got better and I was able to eventually stop taking muscle relaxers and hydrocodone every day.

With this overall change, I started to second-guess my symptoms. I attribute this to the "forgetting pain" phenomenon associated with child birth. I think this also must occur with patients suffering with chronic diseases that include cycles of pain. When the pain is over, and you begin to feel better, your mind starts to think that maybe the pain you were in wasn't so bad after all....until the pain monster rears it's ugly head once again and you curse yourself for ever thinking this situation was bearable.

So to see if I was really sick... and maybe to confirm my first sunlight test, as if the positive results could have been a strange fluke....I decided to do another. This one, however, came out of me looking like it was already out in the sun. So I took my jar of pee, put my name on it, and took it to Dr. Premier, figuring he would like to see it in person.

{March 29, 2010}

Dr. Premier didn't know what to think about this...I don't think most people would. He took the jar and asked how long it had been exposed to light (only 30 minutes or so by the time I drove it to his office) and he said that he would try and run a general porph screen on it and see what comes up. So I left, feeling like I was getting somewhere, and waited to hopefully hear that my levels were elevated and I would become an official porph.

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.

Saturday, May 1, 2010

Porphyria Article

This is an article I found while beginning my research on Porphyria. I printed it, underlined in red the parts that related to my story and symptoms, and have even brought it to numerous doctors to help inform them on this condition. The article is written about AIP - Acute Intermittent Porphyria. I do not have this type, but it is very similar to what I believe I have. AIP does not include light sensitivity, which I do experience, but only has acute attacks, also something I have.

"Insomnia, leg cramps, muscle spasms, constipation, broken blood vessels on your cheeks, tiny pin-sized red dots on the trunk of your body, abdominal pain. Does this sound familiar? [yes] These are common symptoms of AIP: Acute Intermittent Porphyria. My mother describes it as the intense pain you feel when you slam your finger in the door. Only it's not just your finger, it's your whole body. Can anyone relate?"

With just this first paragraph, I was yelling out loud "Yes, this is me! I can relate!" So I continue...

"Porphyria is difficult to diagnose. You can't just call the doctor and complain of one symptom. Not only does your stomach hurt, you probably have a headache and you may even be experiencing mental confusion. This sends most physicians into a tailspin. They will do a sonogram. Then a CAT scan, maybe even a spiral scan. If you still have your appendix, you won't for long. Just ask someone with Porphyria and they will most likely tell you that was the first thing the docs took!

Muscle weakness may occur during a severe attack due to the fact that all symptoms of AIP appear to result from effects on peripheral nerves, the nerves in the abdomen, or the central nervous system. Leg cramps, muscle spasms, and stomach cramps usually originate from this area. All the spasms may bring on another little symptom: petechia. Petechia are tiny strawberry red blood dots. These are most common on the trunk of the body and usually caused by all the stress from the spasms in the abdominal area."

Hmmm.... petechia rash on cheeks and trunk of the body. That sounds familiar. See my trunk pictures in past posts.

"What's so insidious about AIP [and all other acute Porphyrias] is that it is truly intermittent. You may be fine for months, then WHAM, a severe attack will hit you. Or you may slowly slide into the symptoms until one day you just can't get out of bed. Everyone differs. Since more women than men inherit AIP it is common for other women family members who don't even know about AIP share these symptoms. A lot of women simply put it off as PMS."

The article continues to talk about what porphyria is, the different types, what can cause an acute attack, skin sensitivity, testing, and passing the porphyria gene onto children. If you would like a copy, please email me and I'll be happy to send it to you.

Thursday, April 29, 2010

Mayo and Me

Mom and I scheduled our trip to Mayo, since Dr. Facade had never referred a patient there (can you believe that? In 20 years of practice!) and therefore was no help... again. At least she was consistent.

Before we left, we went to visit my old doctor, the one now in premier care. For this blog, we will refer to him as Dr. Premier. So Steve, Mom and I have an appointment with him the week we are scheduled to go to Mayo. We discuss what's been going on for the past year or so, I show him pictures of my rash and pee and OMG he's actually heard of Porphyria before. Amazing. More amazing is that it runs in his wife's family. She doesn't actually have it but her cousins and such do. He believes I have a legit case and definitely need to see doctors at the Mayo. Great, we are on track.

At the beginning of March we left Atlanta and drove the 5 hours or so to Jacksonville. I was just coming out of an attack, trying not to take muscle relaxers and hydrocodone every 3 hours, and not happy about having to stay in a dinky hotel for the next few days. I was hopeful though that we would leave with my diagnosis.


Dr. Asshole was my internist at Mayo. As soon as he came into the room the first thing he said was "you are too young and pretty to be sick". WHAT? He did a full exam, between talking about his four sons (who the F cares?) and again telling me that I was too young to be at Mayo. At one point I got so annoyed that I said back "I agree, but I am, and I'm here to find out what's wrong." Do you think I'm coming here for fun? So get this, after we finish with him, he draws up a schedule of doctors for me to consult with...

Sleep Disorder Doctor
and of course, Psychiatrist... because I'm crazy right.

Fast forward 3 days, no sleep, hours wasted, crying breakdowns, 3 pee jugs, 1 poop container, and a blood draw of 15 viles and Mom and I are on our way back to Atlanta with no answers, just royally pissed off.

Wait for results, cross our fingers that something shows, and get back as a patient with Dr. Premier.

Friday, April 23, 2010

February 18, 2010

This scene from ABC's Grey's Anatomy, "Time Warp" episode, saved my life.

My sister and her husband called me this night around 10:00 at night. I thought something was wrong, she knows not to call me so late. Ever since I got sick I go to bed quite early. But this night I was having trouble sleeping - something that was becoming increasingly familiar.

I answered the phone to a confusing rush of words and questions. "Did you watch Grey's?" "Has your doctor checked for Porphyria?" "I know you're going to think we're crazy." Once she calmed down, she explained that one of the story lines was very similar to what I was going through. This girl kept having a strange multitude of symptoms, sending her to doctors and hospitals only to be treated individually. She had various diagnoses, surgeries, and was even being told she needed a psych evaluation and anti-depressants... yes it does sound familiar. Sister went on to explain that before she called me, they looked up this disease. It's rare and genetic. Well, I'm adopted and don't have information regarding biological family history. OK, keep talking.

Then she said, "the only thing that doesn't fit is the color of your pee." Being that I'm not one to discuss my bathroom habits, I was quite uncomfortable, but told her that many times my urine is the color of a penny. Our conversation went something like this:

Sister: "the only thing that doesn't fit is the color of your pee."
Me: "what do you mean?"
Sister: "the girl on the show, they figured out what she had because her pee was dark. But you don't have that, do you?"
Me: "well sometimes it's the color of a penny."
Sister: "a penny?"
Me: "yea. that's exactly how I would describe it."
Sister: "oh my god, you need to tell your doctor and get tested for porphyria."

This tid-bit of information made it's way through my family, all members shocked I never said anything. How would I know that's strange? It's happened for as long as I can remember. I always figured I was dehydrated and not drinking enough water. I now talk about pee daily.

To prove my penny-colored point, the next day I peed in a clear plastic container and took this picture.

Armed with my new information and picture, my mom, Steve and I went back to Dr. Facade. During the appointment I was in extreme pain, rocking back and forth, looking for a possible puke bucket in every room we entered, and my mom even said I looked grey with a greenish tint around my mouth. In other words, I looked like the next Heidi Klum.

Dr. Facade finally came into the room and asked me how I was doing. I broke into tears mumbling something incoherent about how terrible I felt and that things were worse. My mom and husband filled her in on the rest. I pulled out my laptop and showed her my pee picture. She was shocked. Like most Porphs out there, this doctor had never seen one of us before. Had only read about it back in med school. She even admitted that she had not even suspected it in any patient in her entire time practicing (about 20 years). She was in over her head. Since I had just learned myself of Porphyria, I only knew slightly more than her. She left the room only to come back holding a text book (not a good sign) and said that she would need a urine sample. Ok, so I give that but of course she didn't know that it needed to be a 24 hour collection and that it needed to be out of the sunlight, or light in general... she was too distracted my the $$$ in her eyes. She even had the balls to say "if you really have this, you'll be famous! I'll write about you in medical journals!" Luckily, I was so sick my usual filter was thinned and I responded "I don't care what you do, just figure it out." I don't think she heard me though over the cha-ching that was ringing in her ears.

So I waited 2 weeks only to get a call from Dr. Facade telling me that I did not have Porphyria. I was devastated. By now I had done my research and put all of my "medical mysteries" and even my extreme reaction to sunlight in direct correlation with this condition. Things that I hadn't even thought of before, now made since. Case in point: about 6 weeks before my wedding, I decided to get Zoom whitening for my teeth at my dentist's office. Knowing how I burn easily, I made sure the tech took extra precaution. She covered my lips and face with gooey covered gauze pads (twice as much as the normal patient) and assured me that there was no possible way I would burn. Halfway through the procedure I felt myself burning. Tech lady added more goo, assured me everything was fine, that the light can just "feel" hot. I tried to believe her, but when it was over I had been right. I was so badly burnt that my face was swelling at a frightening rate. By the time I drove myself home, I could not close my mouth due to the size my lips had grown to. Blisters soon formed and eating became impossible. For 4 days I stayed like this. When I could finally close my mouth, and therefore able to cuss my dentist out, I did. All her office could do was tell me how sorry they were and that nobody had ever had such a reaction. I didn't believe them at the time, but now, realizing I just might have this rare disease, they might have been telling the truth.

So on the phone, Dr. Facade tells me that I don't have this and that she is now going to send me to an allergist. Yes, I did say an allergist. And yes, this makes no sense. I figured the urine sample I had given her at that office visit would come back negative. After all, she didn't know what she was doing, but I was hoping that she would have done her part as my doctor and research how to properly diagnose me. Unfortunately I was asking too much. But how could I expect so much from her? After all, she must have been dealing with a lot after realizing she wasn't going to get rich writing about me.

I told her thanks, but no thanks on the allergist and that we had decided it was time to take a trip to the Mayo Clinic in Jacksonville, FL. After all, Mayo is the best of the best. If I have Porphyria, they'll find it. If I don't, they can figure out what I do have.

Life Goes On

Through all of this, life continues. I continued to build my interior design business, I continued to help my husband with his chiropractic practice. I even tried going back to the gym a few times... this didn't work out so well, but expectations have changed. If I don't leave the gym strapped to a gurney, I view it as a success!

There were times when I was sad I was sick. My sister got married in November, just 6 weeks after my hospital stay. I was dealing with vertigo, extreme fatigue, edema... I wasn't at my best, and for such a special event I wish I would have been healthy.

Just one week after my sister's wedding, Steve and I traveled north to his best friend's wedding. We only see his side about once a year, and this event was it for us. Again, I was not feeling great and being away from your own home and your own bed doesn't help when you're going through this. I tried my best, put on a dress and even heels (a true accomplishment when vertigo seems to always have the upper hand), and managed to smile for a few pictures.

(Steve and I at his friend's wedding. I'm exhausted, eyes bloodshot, and I look more grey than my usual pink)

Oh blah dee, oh blah da, life goes on, OH! La la la la life goes on.

Thursday, April 22, 2010

Revolving Door of Specialists

By now Dr. Facade didn't know what was wrong with me, besides that I was depressed of course. So she began sending me to specialists.

We knew my heart was fine, 4 cardiologists had confirmed this.

So off I went to a vascular specialist. This appointment is a story of it's own. Lets recap: I show up for my 8:30 AM appointment to find I am locked out of a closed office. No kidding, lights are out, doors locked, nobody home. I wait. Finally I'm let in, do paperwork, and get taken back - an hour after my scheduled appointment. Talk over my history with a nurse who looks like she'd rather be anywhere but talking with me, mandatory ultrasound of both legs, and wait for the doctor. Oh, did I mention HE'S NOT EVEN AT THE OFFICE YET? Yea, nice. After he finally showed, I quickly realized I would have had more luck just staying in bed. He said that my problems were due to my birth control pills... the same ones I've been on for years and never had problems with before. To prove his point, and maybe entertain himself from his boring job he obviously hates, he took out his iPhone and looked up this Rx. "Man this is cool" he says (no joke) "I can see here, on my iPhone, that these pills can rarely cause some edema". Thanks so much, doc, but that doesn't cover everything. Oh wait, you don't care. And I have to pay this jackass?

Next I see an endocronologist. One of my blood labs had shown elevated cortisol levels. Dr. Facade thought this might be a sign of Cushing's Disease and that I needed further evaluation. So on Christmas Eve, Steve and I go to Dr. Innuendo. He walks into the exam room, looks at me, says he never received my file from my primary care, and that he will see me in 6 weeks. NO! I'm not spending my Christmas Eve here for nothing. So I tell him my story. He says, and I can't make this up even if I wanted to, "you have narcolepsy". Huh? What about the cortisol levels? What about all my other symptoms BESIDES being fatigued? Again I can't make this up, "you need to eat 20 inches of banana a day". I couldn't not laugh. Even though this doctor did not give me anything medically useful, he at least gave me and my family a very funny saying to use during the holidays.

Since Dr. Innuendo wasn't much help, I had to see a second endo, Dr. Idontspeakenglish. She comes into the exam room, takes one look at me and says "you don't have Cushing's, you have Hashimotos". Not only could I barely understand you, but you're wrong. My thyroid levels by this point have been checked like 7 times, they are fine. Of course she wants to check them herself - sure it's only my medical insurance paying for the same tests over and over. 10 viles of blood later, I wait again for results. Normal.

So after being tested for lupus, cushing's disease, ovarian cysts, tumors, cancer, thyroid dysfunctions, heart conditions, kidney failure, liver failure, narcolepsy, depression, fibromialgia, auto immune disorders... I still was going downhill and no closer to a proper diagnosis.

Because my abdominal pain was so intense, and I was having diarrhea and constipation, I was sent to a gastroenterologist, Dr. Poop. She was very nice and lovely, but how much can you like someone when every time you see them they stick something up your butt? I was there to discuss the possibility of Celiac Disease. Dr. Poop agreed that I needed an upper endoscopy (a tube with camera down your throat) and due to the pain in my abdomen I also needed a colonoscopy (tube with camera up your butt). Great. So I schedule my "procedures" and get my "prep" instructions for the colonoscopy. The prep instructions include drinking an entire bottle of Miralax and staying on the toilet for 24 hours straight. I've never felt so sick in my life. The actual procedures were great. I was wheeled into a room, given an IV, and I was out. I woke up in a recovery room with Steve next to me and then slept the rest of the day. Nothing was found, no Celiac Disease, no tumors, no polyps, no nothing. What Steve found was a camera.

{in recovery after the procedures}

After seeing who knows how many doctors, going through who knows how many tests, being poked and prodded, I still hadn't moved out of square one.

Starting From Square One

So after 3 months of cardiology tests, it was decided that nothing was wrong with my heart. So now what? Well, back to square one. And in that square was a new internal medicine doctor. My previous doctor, who I loved and was great, went into premier care... so I find myself doctorless. Until now. This doctor was in a large practice with my previous doc and came highly recommended. Great. For blog purposes I'll refer to her as Dr. Facade (you'll get it later).

So Dr. Facade is great. She is extremely concerned and interested in my story. Her nurse is lovely and caring and doc even said, "don't worry, we'll get to the bottom of this". Well it was just what I needed to hear. Not only had I wasted all these months on my heart, but I was getting worse. Fatigue, migraines, edema, my toes were now turning blue, my hair falling out and thinning... I was ready for answers.

Blood tests round 1 - nothing

Blood tests round 2 - nothing

Blood tests round 3 - something, but really nothing. Low Vit D. Big deal.

By now Dr. Facade is running out of ideas. I continue to see her in her office 2-3 times a month, every time complaining of more and more. My list of symptoms keeps growing: fatigue, migraines, edema, blue toes, hair thinning, and now my muscles hurt and cramp, my stomach hurts, diarrhea and constipation (how do those go together?), and a strange rash is now popping up on my back and shoulders.

She sends me to local hospital for CT scan of abdomen. Normal.

I sense she's starting to think I'm loco, so I begin taking pictures of my rash and bring them to her.

I explain that like the red dots under my eyes, this looks the same, but is on my back and shoulders. There's strange areas of non-uniform redness. It doesn't hurt or itch and comes and goes within a few hours. Dr. Facade looks at my pictures during our visit (which I'm paying for) and without any interest, says "looks like a sunburn."

Yea, that's it. Ummm, ok. Well it's not. I don't go in the sun, I explain how I burn really easy and even wearing SPF 30 Sport I will burn within minutes. Even at the beach I stay under an umbrella.

No, all you Porphs out there, the bulb did not light up over my doctor's head. Instead, she says that because we can't find anything medically wrong, I must be getting depressed over the "situation" and she was going to prescribe Wellbutrin (anti-depressant). The only thing that was making me depressed was the fact that instead of looking for my underlying condition, my doctor was trying to shut me up. By the way, I never took the prescription.

I didn't stop taking pictures, though. I was shocked the next time I had this mystery rash. It was 20 times worse. Good hubbs took pics for me to take to Dr. Anti-Depressant.

Well this picture is sure to get Dr. Facade's attention. Nope. I should have fired her at this point, but I was sure she was going to get to the bottom of this... just like she promised.

Instead, she gave me a Rx for hydrocodone for my pain, and another for my IBS. Fill the prescriptions and see you in a few weeks.

By the way Doc, my muscles are now twitching all the time and it's driving me nuts...

August 27, 2009

This is the day my life changed.

My husband and I were on a work out kick. We were at the gym 5-6 times a week. I had finally started to enjoy running and was starting to see results. I remember we didn't have much time that morning because Steve had patients that afternoon. I was planning on a quick run on the treadmill and skip weights due to time constraints. Sounded like a good morning. Normal.

My mind has the next moments memorized like it was yesterday (although when it really was yesterday I couldn't remember much... but we'll get there). I had my iPod blasting, sweat dripping, and a good stride going. I looked down and saw that I was just over 1 mile and had just hit 13 minutes on the timer. That was the last thing I remember.

I woke up on the floor of the gym with 5 or so strangers around me. One holding my legs up and one holding my head still. I was confused and nauseous. Then the pain set in. My head. What the hell happened to my head? Who are these people and why are they asking me questions? "Husband. Bike. Bald" was all I could manage to whisper. They found him, called 911, and told me everything would be ok. Once the paramedics arrived I had learned that I passed out - MID RUN - on the treadmill. Lucky for my face, I fell back. Unlucky for my head, the floor is concrete. The lady on the machine behind me was now holding my head. She told paramedics she is a nurse and thought I had a seizure because I was shaking on the floor once I fell. But I don't have a history of seizures.

My head was put into a neck collar, my body strapped to a board, and I was wheeled out of the gym (in front of everyone) on a gurney. A quick ambulance ride later and I was in the ER being seen by multiple doctors and nurses. This little gem below was taken to assure my parents I was ok. They were in DC visiting my sister and were of course worried. I made Steve email this picture to my mom. At the time I was sure this was going to calm them down. (laughing out loud looking at this)

{Don't worry Mom and Dad! I'm giving you
the universal sign that I'm fine!}

Steve and I were told that the ER doctor was calling in a cardiologist. Until she arrived, I had to wait. They could run basic tests and would be hooking me up to a heart monitor. By now they had ruled out a seizure, but couldn't explain the shaking witnesses had described. Due to the fall, I also had a concussion, and the pain was excruciating. I was so dizzy, the room spun round and round and a large bump was forming on the back of my scull.

The cardiologist arrived who knows when. She sat down and explained that she sees people all day that have fainted. Not that big of a deal. However, it is a big deal to faint while you are exercising and with no warning. She therefore was admitting me for a full workup. I was wheeled up to the cardiology wing of the hospital where my nurse laughed when she saw me because I was the youngest patient there. She said the average cardiology patient is like 75 and can barely move. When she saw my birth date on her computer, saying I was admitted, she thought the year had been mistyped. I didn't care what she thought, she came with Morphine.

That night is a bit blurry in my mind. Every 4 hours my vitals were checked and I was given a new dose of morphine. A lovely lady came to the room to give me a more comfortable IV in my hand, and I was told I would be seen by another cardiologist in the morning. Poor hubbs had to try and sleep in those tiny hospital so-called recliners that really don't recline. Good husband.

{This is the best IV I've ever had. She even made a protective gauze glove, which Steve referred to as my "Michael Jackson Glove". The yellow band screams FALL RISK. I wasn't allowed to get up alone.}

{couples pic... as if we are having a good time}

In the morning I was seen by another cardiologist. More tests, more headache, more morphine. I failed a stress test, duh. By the way, a stress test is running on a treadmill. HELLO?! Did you not hear how I got into this hospital? Do you not see my fall risk band? Why would you think I could complete this test? Stupid.

By the end of the day my parents had flown back to Atlanta and joined Steve at the hospital. The doctor was explaining that they didn't have answers and that I would most likely stay for 5-6 days. OMG. Normally I wouldn't have cared as long as they kept the morphine coming, but I had a huge installation for a client in Florida and had to be there. So my doctor says he has one more test he can do, a Tilt Table Test. This means that you, the patient, gets strapped to a board while laying down. You have all kinds of heart monitors applied to you and are then lifted to an almost upright/standing position. Then you wait, in silence, while the doctor and two nurses stare at you, waiting to see if you will faint. I'm not kidding.

So at 20 minutes, I'm starting to feel sick, but haven't passed out so they give me a pill to put under my tongue which somehow speeds up the process. Within two minutes the room was getting dark and I felt puky... out. I woke up with them screaming at me. Apparently I had passed out, my blood pressure dropped to a dangerous 85/25 and my heart "paused", or in real person terms - stopped - for 10 seconds. It took almost 2 minutes for me to come back around, hence the screaming. Luckily my body restarted itself, causing me to shake - this explains what happened at the gym and why people said I had a seizure.

I still don't understand this, but this positive test got me released from the hospital. Go figure. Heart stops, you get to go home. What? My current doctor doesn't get it either. He says that my test results are highly abnormal for a tilt table and that I should not have been discharged.

Because of this, we started down the cardiology road. Having some sort of heart condition explains the fatigue, edema, and fainting. I saw a total of 4 cardiologist and spent 3 months looking for something that was never there. MRI, CT, more stress tests, EKG, EEG, 2 week heart monitor, blah blah blah... my heart is fine. Great. What is wrong then?

Is There A Beach Ball Between My Legs?

I was walking through the grocery store in June 2009 when I first asked myself "is there a beach ball between my legs?" Not exactly something you ever would imagine asking, especially when you're not at the beach!

I cautiously proceeded through checkout and drove right to my mom's house. As I examined what was going on in the bathroom, I was horrified. I walked into the kitchen and dropped trou for my mom, showing her what used to look like my legs. In the place of my inner thighs was now huge, bulging pockets of edema. I didn't even know what the word "edema" was until this point. At least now I knew why I couldn't loose weight... I'm full of water.

The edema was only located on both inner thighs, not down to my ankles or in my abdomen. There was a distinct ridge where it stopped and was even discolored. It did not hurt or ache. It lasted 3-4 days before subsiding but my body has not gone back to "normal". As I sit and type now, I am still full of water. I'm certain this will decrease once the underlying cause is taken care of. But when this was happening, we didn't know what to think. And after it went away, we didn't think about it... at least not for 2 months.

My lovely husband said, and I quote, "it looks like you have the legs of a 500 pound woman." Thanks hon.

Growing and Growing

After I recovered from my "eye dots", I thought I returned to normalcy. However, I noticed over 3 months that I was slowly gaining weight. I hadn't changed my eating habits, and was working out... why was I gaining weight? Maybe it was the "marriage pounds" I have always heard of. I'm married now and apparently eating everything, right? So I decided to step up my work outs and drop the extra LBs. Not so much...


Porphyria has been suggested as an explanation for the origin of vampire and werewolf legends, based upon certain perceived similarities between the condition and thefolklore.

In January 1964, L. Illis' 1963 paper, "On Porphyria and the Aetiology of Werwolves", was published in Proceedings of the Royal Society of Medicine. Later, Nancy Gardenargued for a connection between porphyria and the vampire belief in her 1973 book, Vampires. In 1985, biochemist David Dolphin's paper for the American Association for the Advancement of Science, "Porphyria, Vampires, and Werewolves: The Aetiology of European Metamorphosis Legends", gained widespread media coverage, thus popularizing the connection.

Royalty and Porphyria

{George III in his coronation robes}

King George III suffered from the genetic disease porphyria, which had also tormented Mary Queen of Scots, who passed it on to her son, King James I of England.

We now know that there are at least eight types of porphyria, and that the clinical manifestation of each type is not the same. A common feature of all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." These are normal body chemicals, but they do not normally accumulate. Each type of porphyria is determined by deficiency of a different enzyme. These enzyme deficiencies are usually inherited. Symptoms of the disease can include (but are not limited to) photosensitivity, strong abdominal pain, port wine-colored urine, muscle weakness or paralysis in the arms and legs, and behavioral changes including anxiety, irritability, and confusion. The interruption of nerve impulses to the brain can cause the development of psychiatric symptoms such as depression or delirium. (For more information, contact the American Porphyria Foundation .)

George III had a particularly severe form of porphyria. His first attack occurred in 1765, four years after his marriage to Queen Charlotte. Further signs of the disease showed up in 1788-1789. From 1811 to the time of his death in 1820 the royal patient became progressively insane and blind. He was nursed in isolation, and kept in straight jackets and behind bars in his private apartments at Windsor Castle.

Other members of the far-flung royal family who suffered from this hereditary disease were Queen Anne of Great Britain; Frederic the Great of Germany; George IV of Great Britain--son of George III; and George IV's daughter, Princess Charlotte, who died during childbirth of complications of the disease.

In Sickness and in Health

Steve and I were married in June 2008. As customary, part of our vows were "in sickness and in health". We didn't know that sickness was just 3 weeks away.

I always thought of myself as healthy. Growing up I had colds, flues, ear infections... the usual. In my teens I had various times of stomach pain, cramping, migraines... all consistent of PMS... or so we thought.

However, there have been what my family calls my "medical mysteries". When I was 13, I woke in the middle of the night with terrible pain in my abdomen. It took me 4 hours to get out of bed and get help. I was rushed to the local ER, but by then was starting to feel better. After hours of testing and questions, the doctors never did find a reason for my pain and said I probably had a ruptured ovarian cyst and to follow up with an OB/GYN. So I did.

During high school I had more "mysteries" when I would wake up in the middle of the night and have just enough time to run to the bathroom or just sit up before vomiting uncontrollably. Stress. This is what we told ourselves. After all, high school is not easy.

At 19 I again had "mystery" abdominal pain for a few days. My mom figured I was constipated. I realized I was in trouble when I went to my college class and my professor asked if I was ok. She said I looked green and was rocking in my chair due to pain. She sent me home. That afternoon I was taken to the ER. The doctors couldn't find a reason for my pain, so figured it was my appendix. I was taken into the OR for an emergency appendectomy that night. Pathology reports show that my appendix looked normal.

Two weeks after my appendectomy, I was again at the hospital with abdominal pain. This time, since I didn't have an appendix to blame the pain on, they said it was my gallbladder. The only thing I had eaten out of the ordinary was avocado. Well that must be it. I was diagnosed with, get this, "gallbladder sludge". No real explanation of what it was. But I could have my gallbladder removed and the problem would be solved.... no thanks. How about you, Doctor, keep the avocado, and I'll keep my organs (or what's left of them anyway).

So that takes us up to age 23 when I get married. It was a lovely wedding and Steve and I were excited to vacation for 10 days on our honeymoon. Unfortunately, I got sick on day 3. Nausea and diarrhea with one bathroom is quite a way to introduce yourself to married life. I was sick the entire time and even 2 weeks after we returned to Atlanta. Within a month of our wedding, I got up for work one morning and noticed thousands of tiny red dots under both eyes. What are these and where did they come from? I didn't know, but I looked ridiculous. Even heavy concealer didn't cover them. They lasted 2 weeks. This was my first sign there was something deeper brewing.