Discussions By Condition: I cannot get a diagnosis.

Why would a doctor refuse to perform a test?

Posted In: I cannot get a diagnosis. 20 Replies
  • Posted By: TenseBulla
  • February 17, 2008
  • 01:10 AM

Sorry for the insane length of this post, but it's my first time, and I want to make sure to give a decent overview of my situation before I ask my question. Please bear with me; I would really appreciate some help and/or advice.
(Or, just skip to the last 2 paragraphs.)
Thanks in advance!

Physical Stats:
31-year-old black female, 5'8", 140 lbs.
Allergic to shellfish and mosquito bites.
Currently taking no medications.
I smoke about 8-10 cigarettes a day.

Disease History:
My symptoms are chronic aphthous ulcers in the mouth (and occasionally nostrils and vulva), plus tense, fluid-filled blisters (mostly on hands, but also elbows an toes).
My first symptom was the mouth ulcers. I'd had these on and off, 1 or 2 at a time, usually on the inside of my lip, since I was about 10 years old. They'd be painful, but small (about 3mm max), and they'd clear up in about 7 days. For many years, doctors and dentists said that I was accidentally cutting biting myself. Even at that age, that didn't make sense to me-- the ulcers would often form in places that my teeth couldn't reach (eg: gums, roof of mouth, or under the tongue). And often when I did cut or bite myself accidentally, no ulcer would form.

Around age 19, I noticed the ulcers were getting worse and worse; it would happen more frequently, with larger ulcers in greater numbers, and last longer. By 24, they'd be on every surface of my mouth and tongue; I couldn't eat or speak without pain for 2-3 weeks at a time. This would usually be accompanied by a severe thrush (candida). At this point, I figured I just had chronic canker sores, complicated by opportunistic candida. I tried various home remedies, and started to take L-lysine, iron, acidophillus and B vitamins. I also tried eliminating various foods from my diet, drinking lots of water, and going to bed earlier. (Sleep does seem to help a little bit, and if I stay up late for several days in a row, I'm almost guaranteed to get some new ulcers.)

By age 26, I'd begun to notice occasional single ulcers in my nostrils and vulva as well. The oral attacks would now go on for months, accompanied by fatigue/malaise. The oral ulcers were huge (6mm+) and would often run into each other (confluent). My tongue developed what I can only describe as "ruffled" or "notched" edges-- scarring from the constant ulcers. I happened to be under a lot of stress at the time, so my head doctor (not my main doctor) prescribed Lexapro for depression/anxiety. Despite its strong calming effect (felt like I was half-asleep all the time; couldn't get riled up about anything), I was still getting attacks. At this time, I also began to notice the occasional "empty blister" on the bony area of my palm (palm side of the knuckles). At the time, I thought they were from friction against the steering wheel, and thought nothing of it. But they kept appearing. Soon, multiple blisters were appearing on all areas of my hands, filled with clear-yellowish or bloody fluid (not blood). Sometimes, especially on my palms where the skin is thick, they form well under the skin without raising up-- but I can still see/feel that there's a "void" that's filling with fluid. They're often preceded by a slight deep-seated itch for a day or two before they form, but the blisters themselves do not itch. The skin that borders the blisters remains very stable; the blisters do not spread or enlarge if I press on them. Overall, the way they form and resolve is unusual and (I would think) distinctive-- they are not like regular blisters. I can describe in detail and provide photos of various stages, if that helps.

Since then, the blistering has appeared on my fingers, palms, backs of hands, elbows and the tops of my toes at the joints. (Notice that these are all "bony" areas. Significant?) Ulcers also continue to form in my nostrils and mouth, and occasionally vulva and perineum. The blistering and ulcers occur together-- I haven't been without one or the other in years. On my palms, the skin of the blisters is quite thick, but everywhere else, the blisters are incredibly delicate. At some point, I managed to catch a blister in my nose-- and suddenly realized that all of my oral/nasal/vulvar ulcers were probably starting out as blisters and the two symptoms were actually one (ie: blistering).

Last year I had the worst attack ever, apropos of nothing, while on vacation. First, my entire palms reddened, and had a "tight" sort of "swollen" feeling, and mild itchiness that seemed to originate from deep below the skin (erythema). Within an hour, I could see/feel dozens of tiny bumps well below the surface, and within a couple of days my whole mouth was taken over like never before, all the way into my upper esophagus (scary!). I felt weak and exhausted all the time, with a sort of ache in my large joints (knees, shoulders, hips) that I'd never noticed before. The whole episode took over 4 months to clear up. (And that only lasted 3 weeks before I was hit with another.)

I tend to define the illness in terms of the mouth ulcers, because they are so debilitating (can't eat, speak, laugh, sleep). The other areas are generally less painful, so I consider myself "good" if I have 4 oral ulcers or fewer. However, the hands do hurt, and sometimes I have trouble firmly gripping the steering wheel, or using a doorknob.

The whole thing is incredibly depressing and demoralizing. When I'm having an attack I avoid all humans-- I don't want them seeing the state of my mouth, or wondering what kind of horrible disease I'm going to give them. I've told crazy lies to avoid having to go places, or speak once I get there. I absolutely cannot eat in front of other people, because it is terrible to behold. I've had to communicate via pen and paper for days at a time. Once, I had a dentist throw up his hands and back away like I was radioactive as soon as he saw what was going on inside my mouth. Another time, it was so bad-- so bloody and crusty and painful and interfering with my speech and causing me to drool and whatnot-- that I had to tie a bandanna over my lower face (and suck up all of my courage) just to walk down the street and into a store and deal with the counter man. I think if he'd seen my face, he would've run me out of the store in horror. I felt so pitiful I wanted to die.

Doctor (Mis)diagnoses:
I've been to various doctors, dentists and dermatologists over the years. Canker sores is their favorite initial diagnoses-- but that's not much of a diagnosis. I've also gotten less-than-confident diagnoses of lichen planus and erythema multiforme, and some other things I don't remember that weren't even close. (In a couple of cases, the doctors actually hauled out The Big Book of Dermatological Horrors and flipped through the pages looking for what I've got. How reassuring.)

While I fully understand why they'd be considered at first, none of these diagnoses rings true to me. Either I have symptoms that don't fit, or they call for symptoms that I don't display. Furthermore, none of the treatments that go with these diagnoses have helped a whit. I've had three skin biopsies, all "normal". I was recently referred to a rheumatologist because of the "bone ache" that comes with a bad attack. He ran a truckload of blood and urine tests, none of which even seemed relevant to me-- not that he explained any of them. Turns out I'm allergic to shellfish. (I knew that.)

My Assisted Self-Diagnosis:
In desperation, I sent photos of various stages to a doctor friend of a friend, just asking "what do you think of this." He came back with "looks like pemphigus." I'd never heard of it. (It's an autoimmune disease.) Looked into it very deeply online, and it fits perfectly. Now, I know not to jump to conclusions. But the more research I do, the better it fits. The actual mechanism of pemphigus (too scientific to go into here) exactly matches what I feel in my body. I'm pretty meticulous, so I'd researched lichen planus and erythema multiform too-- they don't fit anywhere near as well. And I've also learned that many of these bullous diseases can look alike, and that pemphigus is a relatively "new" disease that most GPs have never even heard of. So I think it's worth looking into.

Which brings me to my question:
Whenever I bring up pemphigus, the doctors become totally unreceptive; they just shut down and become very curt. They won't even consider it, and they won't say why not. They refuse to test for it. I don't know if they think I have cyber-chondria or what, but I'm obviously not making this up, and they really haven't given me any good reasons to believe their diagnoses-- the treatments haven't helped, and some have major side effects. Furthermore, from what I can tell, there are no tests to conclusively confirm those diagnoses, but apparently there are some tests that can be performed to confirm pemphigus.

So, why would a doctor refuse to perform a non-invasive, non-dangerous test to rule this out and thereby shut me up? How can I be more firm about this-- without "offending" the doctors? (Which I suspect is what's happening.) I'm tired of asking for the test, I want to order it to be done, as it were. Would it help to go in with, say, the Mayo Clinic's writeup of the disease? (Maybe they'd respect that more? Maybe that would educate them in a non-embarassing way?) Is there a certain type of specialist I should look for? Or, can I just go around them and get the tests (ELISA and Wester Blot) done myself?

Any advice or reassurances or morale boosters would be appreciated. Thanks so much for taking the time.

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