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.

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 days...sucks) 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!!!

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 down...my 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.

:)

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.

M.D.

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.

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?

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!