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!

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! :)

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.

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%.

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.