Friday, December 31, 2010
Sunday, November 14, 2010
Thursday, November 4, 2010
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
Sunday, October 17, 2010
This medical journey has led me to believe that M.D. most likely stands for Major Dick.
Monday, September 13, 2010
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.
Friday, August 27, 2010
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.
Monday, August 16, 2010
Wednesday, August 11, 2010
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
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
Wednesday, July 14, 2010
Saturday, June 26, 2010
Wednesday, June 23, 2010
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.
Thursday, June 3, 2010
Wednesday, June 2, 2010
Tuesday, June 1, 2010
Tuesday, May 18, 2010
Saturday, May 1, 2010
Thursday, April 29, 2010
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.
Friday, April 23, 2010
Thursday, April 22, 2010
the universal sign that I'm fine!}
My lovely husband said, and I quote, "it looks like you have the legs of a 500 pound woman." Thanks hon.
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.