savemylife

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.

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.

Do you have any references to back this up? I'm curious specifically about your claim that caffeine negatively affects adrenal glands.

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.

That's a good local reference to have, thanks!

I'm not a cider fan (and I've lived in Normandy, where they have the good stuff!) I've heard from a Belgian-beer aficionado friend that there are good rice beers, but haven't tried any yet. Beer is refreshing in the summer, but I'm also happy with a nice whiskey, which thankfully is Celiac-OK.

Pizza is the harder thing for me to give up. I've tried a gluten-free pizza recipe a couple of times, and the result wasn't very good. Willing to keep trying though.

Sure. Prior to the Celiac possibility, I did not eat that well. Lots of prepared (Healthy Choice/Lean Cuisine) frozen meals. Not exactly fast-food, but certainly not cooking.

I weigh about 155 at the moment, which is down from 180 a year ago, thanks partially to Weight Watchers, and partially to the gluten-free diet. I'm small, so an ideal weight for me is probably around 135/140.

Now that I am (temporarily, at least) gluten-free, I'm eating more healthily than I ever have in my life. Lean meats/fish and fresh veggies just about every meal. Some rice and potatoes here and there. My snacks are small amounts of fruits and nuts. I do allow myself some ice cream (after carefully scanning the labels for gluten).

Currently I walk about 3 miles more or less daily. In the past I went through various phases where I ran 3-4 miles daily (often twice daily). However physical exertion really makes me feel worse sometimes, so it's very hard to stick with it. It's not the "good" pain that comes with solid exercise (I'm familiar with that). It's more like my head feeling like it's going to explode, feeling incredibly dizzy and being totally useless the rest of the day.

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?

Thanks very much for your insight, carbocation.

"The tests for Celiac are extremely good. 95% sensitivity and specificity"

Well my bloodwork came "strongly positive", and the biopsy was negative. So what do we make of that?

Yes, but if it takes a few months to start to feel better (improvement takes weeks-to-months, not days, right?), then it seems like I need to give it a good 3-4 months to test that out. Especially since it's hard to be truly eliminate all sources of wheat for a newbie. I want to give this a really good try, and then if I'm not better in that time period, I can check celiac/gluten off the list of potential causes. Believe me, I'm not excited about having to give up pizza and beer. :-)

I think I'm actually in agreement with you here insofar as I'm trying to pursue one thing at a time, and not go crazy trying 5 other treatments simultaneously. I just don't want to have the Celiac issue crop up 2 years from now and wonder if I really gave it a good enough try.

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.

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".

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.

Thanks, that's reassuring. The doctor said pretty much the same thing regarding not hitting the right patch of intestine with the biopsy. She also said I was a difficult patient and did not tolerate the procedure well, so she couldn't do as thorough an exploration as she would have liked (though this was mostly the colonoscopy, not the endo). In fact I recall screaming a few choice words at her during the procedure because I was in such pain. She said that I should ask for full anesthesia rather than just twilight if I ever repeat these tests.

I'm prepared to stick to this diet for 3-4 months or so before giving up.

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I have some idea of what it's like because I spent a week and a half trying to follow the gluten-free diet before seeing the gastroenterologist. The first 4-5 days felt like pure deprivation, but after I stocked up on some basic "raw materials" such as meats, fish and raw veggies, things got a lot easier, and I was actually enjoying what I was eating. It helped that we opened up the backyard grill that week too. Of course I didn't dine out (or have takeout) a single time during that period, which my wife was not too thrilled about.

If it turns out that I really do have Celiac, I think the hardest part about it will probably be not being able to go out to dinner easily. In the beginning I'll want to do as you suggested- play it safe until I know how seriously I react to the cross-contamination that is likely in restaurants. Some people can order a burger, throw away the bun and eat the hamburger patty, while other people would be sick for days from such a stunt; I have no idea how it'll affect me until I actually start feeling better.

An excellent video short on the subject, by John Weldon: http://www.youtube.com/watch?v=pdxucpPq6Lc

Just listened to it; great link, thanks.

I actually have the opposite of that- hypothyroidism.

It's from February of this year. It's also in my queue to look into asking the doc to consider treating me into the more narrow range. But first I want to investigate the Celiac possibility, since (as you mentioned) the Thyroid might be secondary. Thanks.

I very much agree. And for some reason doctors always deliver it like: "I have great news! We got your lab results back, and we can't find anything wrong with you! Wait, why aren't you smiling?" When you've been sick for a long time, and with no diagnosis, you'd actually be happy to hear that you have some horrible disease, if it means you can at least do something about it.

OK, in that case I totally misunderstood. Apologies, and thanks for your concern.

It is indeed hard to know what to make of a lot of the suggestions I receive here, but the quality level of the comments is way above the kind of discussion you would get in most places by posting such a story ("have you tried crystals or magnets?") Already it has turned up something (Celiac) that apparently has been entirely overlooked by all of the doctors I have seen thus far. Even if that turns out to be a dead end, it's worth knowing about and investigating.

OP here. No, but many years ago I did have what I think was called a "lower GI series", where they pump you full of barium and take X-rays of your digestive tract. Yeah, that was really pleasant. I think the idea was to look for blockages. There was no biopsy taken, ever.

edw519, I hesitated for a day before posting this update (and a good couple of weeks before my original post) for exactly that reason. I realize that this is Hacker News, and not a medical web site. So I truly apologize if what I've done is inappropriate. HN is a great place, and I'd never want to abuse it.

In the end I rationalized my decision by thinking that if my post isn't actually appropriate, that it simply wouldn't get voted up. It's a community site, and in the end the community chose to vote it up. I think that's worth something, though I certainly do see your point.

I'd make one correction to your argument though- I'm trying to crowdsource a diagnosis, not my medical care. There is a big difference.

Blog update has links to my latest lab tests. Hoping to get some feedback on that, as a few folks were interested in seeing them from my original post.

On the contrary, constructive skepticism is always welcome. I actually have the same concern (less food in == less food out, right?)

PS: never, ever, thought I'd be discussing my bathroom habits on the Internet.

"obtain all your lab results that have ever been done, scan them, and post them"

Great idea. I have just updated my blog with links to scanned test results, including Celiac, which I had tested last week.

http://savemylyfe.blogspot.com/2010/06/hmm-maybe-celiac.html

OP here again. Just got back from my dr visit, armed with questions from HN. Doc is open to investigating Celiac, so he took some blood for that. He's going to recommend me to a gastroenterologist who may pursue an endoscopy/biopsy. I'm tempted to start avoiding wheat now, to see if it has any positive effect. But doc also told me to not do that until after seeing the gastro, as it will affect any test he may do.