I hope it brings with it some advances in diagnostics. I have some kind of autoimmune condition (I think) that has resisted a proper diagnosis for over 2 decades. Whatever it is, I lost my livelihood to it, and now I stand to lose my savings as well. Since I have no diagnosis I can't even apply for social security benefits, much less hope to return to work (I used to write code pretty successfully).
This is my current diagnosis, for those who might have been following my story from over a year ago (http://news.ycombinator.com/item?id=1399450). I've been wanting to publish an update to this story on HN, but I'd been hoping for better news first.
My last doctor (a very good, well-known Rheumatologist in my area) spent a long time working with me. After months of trying everything he knew, he put it to me like this:
* You have Chronic Fatigue Syndrome. Name sucks, but that's what it's called right now.
* What you have is real, it's not "in your head".
* A typical outcome is that you will start to feel better when you turn 50 or 60. In other words, my best outcome is to hang on for another ten to twenty years and hope that I feel better then.
I've been dealing with this since college, but this is the year that I finally had to admit I was failing, and had to quit my job.
He recommends a collection of tests which could confirm a diagnosis of EBV or HHV-6. (My doctor and I agreed to skip the tests because my symptoms were not nearly as severe as yours and the tests are not quite as reliable as one would like; it seemed simpler just to start me on valacyclovir and see what happened. But for a more severe case like yours, the tests are probably a good idea, I would think.)
I actually have this book. I don't think it covers the Parathyroid though. If the Hyperparathyroidism doesn't pan out for me, I plan on asking the doctor to treat my Hypothyroidism more aggressively, to try and get my levels closer to perfect.
Wow, so it sounds like even once you're diagnosed via lab tests, you still have to fight to get it "fixed". That really sucks. parathyroid.com says that if you have the high Calcium and PTH, you "have it, and need an operation". I dunno how reliable that site is though.
I've read that even getting a positive lab diagnosis can be tricky, as Calcium & PTH levels fluctuate fairly rapidly, and you sometimes have to get the test repeated many times over a period of weeks.
Good luck in finding a good facility. If it turns out that this is what I have, maybe we'll end up comparing notes on that sort of thing.
I don't have any specific scientific papers to cite (although I have seen them), I do have personal anecdotal experience and this article that I read a while ago about it: http://www.integrativepsychiatry.net/adrenal_fatigue.html
My personal experience was this: extreme fatigue during the day (it was difficult for me to stay awake and not nap when doing anything sedentary), daily allergies that fired up (very badly) for no allergic reason, and a general sense of sluggishness.
Once I cut out stimulants (it isn't just caffeine, but the amphetamines in decongestants, ADHD medications, etc...) and started taking pills with desiccated adrenal gland tissue and thyroid boosters I could stay sharp all day long without ANY caffeine or naps. I slept really well every night, and a general sense of well being came back.
This coupled with my improved diet in general (paleo diet, no grains at all, high in animal protein and vegetables) made my life so much better. My body feels good, finally.
I don't think jerf meant that individuals who test positive (via serum or biopsy) should try a gluten-challenge, and then rule out Celiac based on not having a reaction. I think rather he meant that those who test negative on the standard tests should try the gluten-challenge, and if they show no reaction, they should move on and look elsewhere for a solution. Not meaning to put words into his mouth, but that's what I took away from it.
Sorry to hear about your neighbor. I've wondered lately how many people actually die from Celiac, either directly, from complications, or via suicide due to lack-of-diagnosis. I bet the suicide numbers are pretty high.
The problem with my neighbor was that he was an old (75 or so) stubborn WWII veteran who didn't recognize that he had a problem earlier on until he landed in the hospital and had almost no intestine left. He almost died there since there was a lot of internal bleeding and still, in the US anyway, Celiac isn't well understood by all doctors. He had to change to a gluten-free diet, but basically he couldn't figure out how to eat since everything he ate for his life had gluten in it. This was more of an education and class issue than anything, in my view. Later on in life, he just got more and more depressed about his situation and eventually died just a few days after he broke his hip in hospital while there getting treatment for internal bleeding caused by his Celiac. His family said at that point he had lost his will to live and simply gave up.
Your first bloodwork was neither here nor there. Your second bloodwork was positive. At that point, you rightly earned a biopsy. The biopsy is the definitive diagnosis, unless you had been on a wheat-free diet prior to the biopsy (which would cause the duodenum to return to normal). That wasn't the case, right?
Now, the interpretation of the biopsy might not be great. Have you considered asking your GI to send it to (somewhere else of your choosing) to get a second opinion?
Edit For some reason, your other posts seemed to convey that your GI was not very confident in her biopsy of your duodenum. This does make me a bit nervous. This is why it's hard to play doctor over the internet. If we were in real life, I could probably get a much better sense of whether or not to trust the biopsy. Hopefully her biopsy is at least good enough to prove to an outside reader that she did indeed biopsy the duodenum...
I actually did go gluten-free for about 7 days prior to the biopsy (yeah, that was dumb). When I had my GI appointment, she had me go back on gluten for 3 weeks prior to the procedure, which I dutifully did.
She said I was extremely uncomfortable during the procedure, more so for the colonoscopy than the endoscopy/biopsy. I don't think she said outright that it prevented her from getting good samples, but she did say that it might make sense to repeat the procedure in a few months if the genetic test comes back positive, or if the gluten-free diet produces a positive result (of course with appropriate gluten-challenge beforehand). She said that if we do that she'd give me full anesthesia so that she can get further into the tract for samples.
I would certainly consider asking for another interpretation of the biopsy. Do they actually keep them around for that kind of thing? Where would I request it to be sent?
Not dumb — in fact totally understandable — but yeah, that may confound interpretation of the test. Does your GI doc know this?
I'm not fully versed in the art of asking for another opinion, but I think it would be reasonable to get your doc involved. You could basically say that you appreciate the care she's given you and want to keep her as your GI doc (if true) but you'd also like to get another person to take a look at the biopsy sample, since it is obviously a very valuable and hard to get piece of tissue. I'm sure she could recommend another person to interpret the samples for you. I'm not positive that Celiac biopsy samples are kept, but I know that many other biopsy samples are, which is why I suspect that these are, too. At the very least, they should have images of the samples. Based on her apparent discomfort with the procedure, I'm half wondering if there was a misinterpretation, and I'm half wondering if she was unable to biopsy the right tissue; both of these concerns could be resolved by a third party. It wouldn't be cheap, but it has a small chance of saving you from having to do another biopsy.
That said, in the setting of a one week wheat deprivation diet, interpretation probably won't be totally clear even if you did have Celiac, so a second opinion on these samples may well not be worth it.
The doctor wants to run the genetic test because if that's negative, we can rule out Celiac. A positive result would only indicate that it's still a possibility. If the bloodwork had come back negative she wouldn't have bothered, and just rule out Celiac then and there, but it was "strongly positive".
This is not how the diagnostic chain for Celiac is designed to work. Optimally, you would proceed like so: (a) patient has symptoms consistent with Celiac; (b) patient gets tested for either antibodies (e.g., antiendomysial IgA) or genetics; (c) if 'b' is positive (or sometimes if it is negative and clinical suspicion is strong) then biopsy is performed.
Since the biopsy is both more sensitive and specific than the genetic test, one should not side with the genetic test over the biopsy in most circumstances. The genetic test cannot rule out Celiac. Why? The genetic test looks for specific common variants. It cannot discover anything that is not already in the database; therefore, it cannot rule out Celiac for you - it can only make it more likely or less so. (As an aside, this is why treating 23andme as a medical tool can be dangerous. Let's say you have common genetic variants protective for breast cancer -- but, lo and behold, you also have a rare variant previously undescribed in the literature and not captured by the 23andme chip. You actually have a high risk of cancer, but would think just the opposite based on the common variants examined by 23andme. Sorry for the lengthy aside.)
Let's say that Celiac is 100% determined by your genetic variation. It's still possible that there are common variants that cause Celiac, and rare ones. The tests that we have right now only look for relatively common variants, which is why they have varying accuracy in people of different genetic backgrounds but generally are positive in 95% of people with biopsy-proven disease... which gets me back to my main point, which is that you have a biopsy; the genetic test is nothing more than a waste of your money from a biological standpoint. From a peace-of-mind standpoint, I can appreciate why you want this.
Thanks for the explanation. I hear you on the genetic testing. The whole process is frustrating. I do realize that I sound like that patient who wants to have "disease X" at any cost, and is looking for loopholes in the diagnostics.
But I want to know what's wrong with me, and what I can do to get better. This whole Celiac thing is really starting to feel like yet another dead end for me (Lyme Disease, Fibromyalgia, Sleep Apnea, Psychiatric, etc; just add it to the list.)
Still, I want to give it a good shot, and that seems to mean staying on the diet for a few months and see if I improve. If I feel better, who cares what the tests say? Though it would be nice to have confirmation, I just want to feel better.
Yes, as I suggested in another post in this thread, there is absolutely no risk in doing the no-gluten diet (except maybe higher cost of food), so there is basically no downside. Your expected benefit is greater than or equal to zero, so keep it up!
I resisted the possibility of a psychological aspect to this for a long time, but eventually (when other things didn't pan out and enough doctors told me "it's all in your head") I gave in.
So I've seen several psychiatrists (both in the US and abroad), tried every kind of drug, and spent many months in psychotherapy. I feel like I really did investigate that angle thoroughly, and it's not the problem. I'm pretty confident in saying that it's not in my head.
Have you tried smoking high-CBD cannabis? If you have both muscle problems and brain fog, then it's possible that the brain fog is coming from the CRP and other stuff that's getting released as your muscles break down. CBD is non-psychoactive and doesn't even act in the brain, it just attaches to receptor sites on your muscles and works as an anti-inflammatory.
It won't fix the root problem, but I'd recommend trying it (in moderation). High-CBD cannabis pretty rare, but they do sell it at Harborside in Oakland.
This podcast explains the science much better than I can:
> it's possible that the brain fog is coming from the CRP and other stuff that's getting released as your muscles break down
CRP is not released by muscle breakdown. It is a predominantly liver-produced acute-phase reactant that is an inflammatory marker. Myoglobin, on the other hand, is released by muscle breakdown, but this is only appreciably released in severe circumstances such as a crush injury. The major harm of myoglobin is to the kidneys, not the brain, and I'm quite certain that CBD does not help this.
>CBD is non-psychoactive and doesn't even act in the brain
Thanks for correcting the science. My more general point though was that chronic low-level inflammation causes a large percentage of depression / brain fog type things, and CBD can help with this:
In vitro and animal studies have suggested that curcumin may have antitumor,[9][10] antioxidant, antiarthritic, anti-amyloid, anti-ischemic[11], and anti-inflammatory properties.[12]
Interesting; I've never heard that before. Do you mean that there is peripheral inflammation and the cytokines pass through the blood-brain-barrier, or do you mean that there are actually inflammatory cells that enter the brain and cause depression? Also, can you cite something more specific than a Google search? Most of those are for-profit or interest group websites.
Yeah, if you Google for cytokine theory of depression there are a bunch of papers. I'm not an MDPhD so I have a very limited understanding of the science, but from observation and personal experience the hypothesis seems quite accurate. The good news is that it's extremely easy to manage, the bad news is that no one knows this.
You do realize that smoking cannabis can be against the law ?
And that if savemylife is in the wrong jurisdiction that can put him/her in an afwul lot of trouble ?
I take no stance on whether or not it should be legal, it's just a fact that it currently is illegal in many places and I'm kind of surprised that you'd suggest someone do something that may very well be against the law where they live.
