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.
I just emailed you.. Please Please contact me.. your story is exactly the same as mine, complete with the Loving and Frustrating partner and mother. We are finally on to the path of Porphyria. however the hemotologist that is treating me has only ever treated 1 other person in his medical career. I feel like a sailor with out a compass, and too sick and too frustrated with M.D's .. but sadly they are the ones with map to help. Again, THank you for this blog. thank you thank you from the bottom of my tired frustrated, purple rashed, enlarged spleen, hormonal intolerant self. :) thank you! Erin
ReplyDeleteI know how you feel. I've been sick for 10 months and had four tests showing positive for Porphyeria. This is after being the human pin cushion for hormones, thyroid, and a whole slew of other problems that "it might be". I had a upper GI, colonoscopy, MRI, ultrasounds, CT scans. I have been in the emergency room from the attacks multiple times, only to be hooked up to an IV and doped up to the maximum amount. Only to be released to go home doubled over from the pain, and doped up so much, I can't think straight. Oh, they sent me home with pain meds I'm allergic to.
ReplyDeleteThey sent me to a GI Dr.(two hours away) that ended up being "released from her contract". I finally went to my old Dr. In Portland (7 hours away) to have him look at my symptoms and he decided to test me for Porphyria. I tested positive for the first test. He tested me with another test, possitive again. He originally was sending me to a hemotologist, but retracted that and sent me to another Hemotologist that is a Porphyria specialist. Now this new Dr. Says that he wants me tested for this rare hormonal disease (not to my happiness) and I straight forward asked him. Why would you look for that when I tested possitive twice for . Are you saying I dont have porphyria? He said," no, I think you have a form of porphyria. But with your symptoms I think you have another rare hormonal disease with it." so more blood work and more urin tests, and a new Dr. exploring new directions. I'm so tired of being poked and prodded to be told I don't have one thing or another, especially when I've been tested possitive for this other rare disease. I want the pain gone, and the tests over. I want to be able to go back to work, and go places again. The sweating peofusely is so embarrassing. The pain is getting old, and the exhaustion is really getting old. Just start treating me for the disease I tested possitive for and get this over with! I know, it'll never be over, but I want a solution, not another guess of what could be with the disease! I've been sinking for a long time.
I've had digestive problems since middle school - now wondering if no one ever ordered the "right" tests. I'm also wondering about the April 18 poster's statement about the profuse sweating. I don't remember seeing any symptoms list that includes excessive sweating, but I've had that also - I've never seen so much sweat beaded on arms, legs and face the way it has on me. My hair is so wet by the time I'm half ready to go to work that I cannot do anything with my hair! So frustrating not knowing what's going on. Always hoping to just give it a name...
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