On Getting Glutened

Field Training 2
Field Training 2; (US Army photo by Spc. Robert H. Baumgartner); 82nd Sustainment Brigade

People often ask me, “What is it like? What happens?” Some are sheepish or shy about asking, others are avid and openly curious, but either way they want to know. Sometimes they’ve heard it’s like having the flu, but don’t know that it can be different for different people.

Recently, I was traveling for the first time in a few years, and got badly glutened on the last day of the trip. it was the first travel day that I wasn’t able to make my own food, and had no choice but to buy “gluten free” food from restaurants. I will never know which food caused the trouble, but I do now remember quite vividly what my daily life was like before I went GF. I was trying to explain it to one of my best friends. The explanation went something like this.

“Imagine you’re a raw recruit in bootcamp. It’s the third day, and you’ve just realized this is going to be harder than you expected. Then the sergeant comes, and before you know you’re all suited up in 50 pounds of body armor, carrying two backpacks, and miles away from camp with no idea how long the hike will be. You’re dragging, trying to find a second wind, then crumpling; trying to find a third wind; a fourth …”

“I’m sorry,” said my girlfriend.

“No, wait,” I answered, “That’s just the beginning.”

“You realize you aren’t in bootcamp after all. You’re somewhere else, a forest or jungle or something. The weather is strange, hot, then cold. Or maybe you’re sick. You feel queasy, sweating and chilling at the same time. Somehow ants have crawled in under the armor, and they’re biting you, something fierce.

“And you’ve been drugged. You’re confused, not sure where you are, what you’re supposed to be doing, who you’re with. You just keep moving because if you don’t you feel like you’ll never move again. Your eyes keep closing, and half the time you are walking (stumbling, actually) with your eyes closed, catching a quick blurred glimpse, and falling closed again. But you are at least moving! Hey, that’s something to be proud of, right?

“And then you open your eyes. You’re in an office building, surrounded by people. You know you work with them, but you can’t remember their names. They are all looking at you, wary, like you just said something crazy or did something scary. You don’t remember. What did you say? What should you say? You shrug, grin lopsided, ask what’s next, as if it makes sense, and you pray that it does. But you still feel like you’re 200 pounds heavier and drugged.”

That’s what it feels like when I get glutened. How long did it last? This time was especially bad β€” around a week and a half. I managed to do what I needed to do for work, collapsed when I got home, made it through and made sense most of the time. And I am very, VERY grateful that this is no longer my everyday life. That it stops.

About Genetic Risk & Celiac Disease

23andMe Celiac Disease Risk Markers

[This was a reply to an email question about genetic risk of celiac. I have so much to share here, but so little time for blogging, that I decided to grab this part, and hope to add more of my recent explorations in the future. Not TOO distant, I hope!]


Like so many people, I failed all the blood tests for celiac, despite having a boatload of symptoms. That was why I took the 23andMe test for celiac markers, with the results showing 4.07 times the normal risk of celiac. In the general population, risk is 0.24%; mine was 0.96%. There are currently 4 known genetic markers for celiac:

* HLA-DQA1 (SNP rs2187668)
* 4q27 (SNP rs6822844)
* 3p21 (SNP rs6441961)
* 3q28 (SNP rs9851967)

I have 3 of the 4, all except the last and least important one, which is what made for 0.96%. Now, ~1% that sounds awfully small, but the genetic risk combines with a variety of other risk factors.

“Estimates of the heritability of Celiac Disease vary. Risk factors other than the SNPs mentioned here include having European ancestry, family history of Celiac Disease, and a personal history of other autoimmune disorders. These disorders include Systemic Lupus Erythematosus, Type 1 Diabetes, Autoimmune Thyroid Disease, and Rheumatoid Arthritis.”

I have European ancestry, family history, and a family history (not personal history) of the autoimmune disorders listed as examples, with a personal history of autoimmune disorders not listed as examples. My diagnosis came from combining all of these:

* genetic risk factor PLUS
* family history PLUS
* ancestry PLUS
* other autoimmune disorders PLUS
* symptoms PLUS
* blinded trial

You see, the inclination of the docs was to read the symptoms as meaning a combination of a bunch of other possible conditions, which they’ve been attempting to treat for 10-20 years. Unsuccessfully. But we kept trying. Believe it or not, this made sense, specifically because, until we had all that information, the risk of the other conditions was higher than the risk of celiac, making it much more logical to explore those options.

They were reluctant to consider celiac, in part because it is a “fad” currently prone to self-diagnosis. Docs rightly tend to mistrust self-diagnoses of current fads, but then every now and then the fad was right! LOL! The other reason they were mistrusting this “self-diagnosis” was because I had atypical presentation of the symptoms. Most folk have primarily gut problems. I had mostly skin. Most folk with celiac related skin problems have those show up on limbs and back. Mine were worst on my face. Medically, it didn’t LOOK like celiac or dermatitis herpetiformis. They weren’t sure what it was, but it didn’t look like what it turned out to be. So you really can’t blame the docs.

But when you combined all these risk factors, you ended up with roughly 1/4 risk instead of 1/100. Big difference. Then the blinded trial tipped the balance. When you have someone with a 1/4 risk of celiac and symptoms and they pass a blinded trial, well, the reluctance to diagnose celiac faded.

EDIT:

I am adding a link to the article citation which was referenced in the test results. For those who want to explore more deeply.

van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, Wapenaar MC, Barnardo MC, Bethel G, Holmes GK, Feighery C, Jewell D, Kelleher D, Kumar P, Travis S, Walters JR, Sanders DS, Howdle P, Swift J, Playford RJ, McLaren WM, Mearin ML, Mulder CJ, McManus R, McGinnis R, Cardon LR, Deloukas P, Wijmenga C.
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
Nat Genet. 2007 Jul;39(7):827-9. Epub 2007 Jun 10.
http://www.ncbi.nlm.nih.gov/pubmed?term=17558408

AT LAST!!

I started this blog on May 15th. On May 24th came my first post about my trials and tribulations with trying to get a celiac diagnosis. Well, LOOK AT THIS:

Pic of the day - At Last!!!

OK, now between May and now, there have been a lot of changes. The big one has been that my primary care doctor moved to another country. That is kind of a biggie when it comes to moving forward with any kind of health questions. πŸ˜‰

I was assigned to a new doc, and wasn’t any too sure about this, since I knew nothing about the person. I was thinking about possibly switching clinics, since I knew more primary care folk I don’t trust at my current clinic than folks I do trust, and there are a couple who I wouldn’t trust to throw me a lifesaver if I fell overboard in a boat. They would either think they knew a better way, or they’d be busy asking other people’s advice and not listening to me. So I’ve been judiciously reserving judgment.

I asked around a lot. Many people told me that the doc I’d been assigned to was mentored by my previous primary care doc (who is the first doc I trusted and who has earned that trust by both listening and saving my life a couple times). People told me the new doc is geeky, like me; that he’s interested in e-patients, like me; that he’s open to using email for communication about minor issues; etcetera. So I made a “new patient / establish care” appointment, which takes a while to get. That was today.

I was very careful preparing for the appointment. After all, I have longstanding complicated unresolved health issues. I’m a participant in this PGEN study, and some docs really aren’t into that. And I’m aggressively self-educated about my own health issues. I’m a medical librarian. I’m a really GOOD medical librarian. I specialize in systematic review searches. I have both co-taught on this topic with Cochrane folk, and am on Cochrane review teams. Docs will tell you there is no worse patient than another doctor, or another healthcare provider. Well, they might make an exception to that guideline for me, and if not, I’m darn close to being just as awful.

A few months ago one of the docs I work with was chatting with me. I was rambling on at fairly high speed about some of the new research in her area of interest, or something like that. She hadn’t seen it yet. When we changed topics, I did the same thing in the new topic. She just looked at me with a combination of humor, horror, and awe in her eyes, and asked, “What kind of doctor has to deal with YOU as a patient?” I told her, and she said, “Thank goodness! He can handle it!” Of course, that was before I found out he was moving to another country. Oh. A new doctor? Oh. Uh oh.

For this first meeting, I established my priorities, and clustered them: celiac/skin; MTHFR/folate; osteoporosis/HRT. I made notes in my phone. I printed off a highly selected subset of pages from the genetic studies. I brought copies of a couple other articles just in case. I researched the available expertise on celiac in the system. I hunted down the newest clinical guidelines for diagnosis of celiac. I reviewed the guidelines. I reviewed the articles by the only in-system clinician who remotely comes close to being a celiac “expert.” I made two copies of everything I planned to share with him. I went through the list, & cut it in half. I then hid my copies, and my extra back up single articles. I debated bringing my box of vitamins, but finally decided to. The nurse was glad, which made it ok.

The doc had a student with him today, an MD/PhD fellow. She and I had a lovely chat, but it became rapidly clear that this was too complicated for the amount of time available, so she passed the baton along to him. Because of the time crunch, the conversation was rapidfire, with lots of interruptions back and forth. It wasn’t the best communication I’ve ever had with a doc, but it was far far from the worst, also.

His top priority was the osteoporosis. That’s fine. So we talked about bisphosphonates for a while, and why I don’t want to take them. It’s a risk/benefit issue. I’m not persuaded that I’m badly enough off for it to be worth it to me to take them. I could bore you with the details, but to make it short, this is an area where I’m not an expert, but I know a lot of folk who are, and I’m able to talk about bisphosphonates moderately intelligently. What was important for me was for the doctor to believe that. I was able to show that I’d read some of the same literature that he had, and this helped (I hope) establish some sort of credibility baseline for me. (The genomic content came into play a few moments later, with the doc deciding that the potential value of the HRT is just not worth the potential risk of DVT, given my genetic scan results, and he has me tapering off it.)

Then he was willing to take a look at the genomic info I’d selected out. Some of these we’ll have to deal with later. He and I agreed that most of what healthcare currently knows about MTHFR is suspect and insubstantial. He asked why I’d decided it was important. I pointed out some superficial similarities between my body type and the more severe form of MTHFR; showed him my brief distillation of Pubmed searches on emerging trends in MTHFR research; and then emphasized that a major driver was my constant craving for foods high in folate. Since he was already doing bloodwork, he agreed to add in the baseline test for a few vitamins and minerals.

We have a long talk about the skin issues and antibiotics and dermatitis herpetiformis and rosacea and celiac … what to do, and why a diagnosis matters if it doesn’t change my determination to remain gluten free. My computer crashed so I’m going to just wind this up now and perhaps continue another day. The end point is that the genomic tests DID change my healthcare practice. I walked away with a piece of paper that says I have a celiac diagnosis; we are removing the HRT; and I have the docs OK to start folate supplementation once I have my labs drawn. Pretty good starting point!

Blur

Muruga's saint, blurred

Life has been a blur lately. I spent the last part of the summer frantically trying to finish various projects associated with our home renovation. It was REALLY frantic, so I haven’t been here much. That doesn’t mean, however, that nothing was happening on the PGEN front. More puzzles and mazes being negotiated, more clues leading to quirks in the path.

Remember when I first started this, and talked about being an MTHFR carrier? I’m circling back to that. When I first looked into it the gist of the overviews I found on the topic were along the lines of, “Meh, not such a big deal. Don’t worry about it.” Folk in the PatientsLikeMe forum were talking about it, though, and seemed more concerned. Frankly, I thought they were worrying over nothing, and initially didn’t give it a second thought. Then one day I saw a comment about MTHFR deficiency being associated with autism, which runs in my family. And depression. And osteoporosis. And anemia. And … well, you get the idea. Basically, it seems to be associated with as many conditions as celiac disease, and an equally broad range of conditions. Oh, and by the way, it is also associated with celiac. Hmmm.

I thought, well, the other stuff I read said it wasn’t a big deal, so these web sites much be just flakey folks making things up. Let me go check Pubmed, just to verify. I tried a number of different searches. MTHFR is pretty wild! It is being researched in many different areas as potentially significant. I then thought, wow, it seems to almost be a fad in research right now. Well, not exactly.

Pubmed results for MTHFR by year (3 in 1990, steady rise to mid 400s in 2011)

This chart shows how many articles were listed in Pubmed for MTHFR by year, for the past twenty years. You see very little to virtually no interest in MTHFR twenty years ago, according to the publication rates in the professional biomedical literature, rising to a fairly steady number of publications in the mid-400s for the past five years or so. There is no big spike, just a growing awareness along the lines of, hmmm, this might be something rather interesting.

To make a long story short, I’ve started to look into it more closely. Just as with some other elements of the genomics scans, the information I’m learning is causing me to go back and look at some of my personal stories through a different lens.

One of the first questions I asked myself was about the core “folate deficiency” bit. Should I be supplementing with folate or folic acid? I took a look for what foods are naturally high in folate. OH MY GOODNESS!!! Darned if the list isn’t comprised of foods I usually crave. This includes foods my docs have told me I eat too much! But since I’m craving them, they get eaten.

I started thinking back, and suddenly put two and two together. The first time in my life that I felt absolutely wonderful was when I was pregnant for the first time. I had always attributed this to actually being pregnant, but you know what? When a young woman is pregnant, doctors prescribe pregnancy vitamins, which include folic acid. That was the first time in my life I had folic acid. What if … oh, wow, what if the reason I felt so incredible was because of the vitamins, not because I was pregnant? I had the same kind of “wow, see how great I feel” reaction when I started eating lots of quinoa, which is a folate rich food.

When I figured this out, I was tempted to run out and just buy pregnancy vitamins or folic acid vitamins. Dutifully, I checked first if it was safe to self-prescribe. Sigh. They recommend talking with a doc first and having your B12 levels checked. So, now I’m making that long-put-off appointment with my new doctor. I’m trying to make sense of this, but it seems to all be getting more confused rather than more clear. Blurred. πŸ˜‰

Well, That’s Disappointing

Zera: Environmental Indicators: Face with Tears (Detail)

I’m hoping that I misunderstood something, and that more info is coming later. I received the results β€” 91 page report! Going to take a little time to dig through it. My immediate response was, there are some real issues with their graphic design, hmmm. They do this clever color-based top-level design for quick scan of the results, but I suspect it isn’t truly visible for persons with color-blindness, and they don’t provide the supporting design for those persons. Rule one of design for persons with color blindness is don’t depend solely on the color to carry the message, combine the color with words or numbers.

Next response was, but … but … but … where’s the results for celiac? When I filled in the survey it said they would include that, but if they did, it isn’t in these results. That was my primary motivator for doing this, and if I don’t get that info, I am suddenly seriously unmotivated. Not that I won’t look at the other parts, but my heart isn’t really in it.

More later, as I explore. There doesn’t seem to be as much information as I’d hoped.

Do I, or Don’t I?

Pic of the day - What Being Gluten-free Means to Me

Today I was invited out for a business lunch. I had brought my own lunch, but I tucked it in the fridge. I ate a couple small snacks, hoping to not be hungry when I got there. I wanted to be hungry enough to eat something small, but wanted to avoid eating “real food”.

I’m pretty careful about going out to eat because I’ve been trying to go gluten free. I’ve been sick for years, actually decades, finetuning my diet trying to find out what would make me not feel sick. It’s a long story, which I’ll try to shorten here, but it started with my going vegetarian as a teen, gradually adding in eggs & milk; then chicken & fish; then flipping and going pseudo-paleo almost; then … well, you get the idea.

Last year I started eating a lot of quinoa. One of the issues I’ve had off and on throughout all this is chronic skin problems centering on my face. I’ve been getting medical treatment for the skin for around a dozen years now. When it’s bad, little kids ask their mom, “what’s wrong with that lady?” I try very hard to not let it get that bad. Quinoa was helping, and so I started eating it at least once a day. This meant I was eating a lot less bread and noodles and rice.

After a couple months, I didn’t just feel better, I felt FANTASTIC. I felt 20 years younger. I had energy leaking out of my pores. I was bouncing everywhere I went. My skin was better, not perfect, but better. Two medical professionals I know on Twitter and one public health faculty member all said the same thing, “You know, you sound like our patients who’ve gone gluten free.”

The question then became was it gluten intolerance or celiac. My mom was diagnosed as celiac around 15 years ago with a skin biopsy for the skin problems she was having, but after a couple years she decided not to stay on the diet. I had almost forgotten it happened. My doctor agreed to my doing a gluten trial for two weeks before the blood test. Frankly, I don’t know which blood test, but I really ought to find out. I was profoundly ill and miserable for the two week trial. My skin felt like it dissolved. I was covered with bloody sores and scabs; constantly parched with thirst; my skin swollen; my cheeks swollen and constantly bleeding and being bitten; my face and my feet swollen. Curiously, although the most common symptom for both gluten intolerance and celiac is intestinal upsets, I never had that as a symptom.

Anyway, the test came back negative. I didn’t care what the test said. It might not persuade my docs, but the experience persuaded me. My reaction was, “I am never going back on gluten ever again.” Evidently false negatives are fairly common with this test, especially when someone has gone gluten free for a while first. From my reading, it seems like the main differences between the two conditions for presenting symptoms are the vitamin deficiencies. Gluten intolerance doesn’t get them, and the symptoms go away as long as you aren’t exposed to the trigger, whereas celiac is all about malabsorption and deficiencies in various vitamins & minerals. My personal health history is studded with vitamin & mineral deficiencies. So, according to my medical record I have gluten intolerance. I am convinced I have celiac. But the tests don’t support my theory, and I am not willing to go back on gluten intentionally in order to have more tests.

Today at lunch, first I tried to convince the person I was meeting that we weren’t really hungry and should go somewhere else. But really, I was hungry. I felt like I was starving. The snacks hadn’t worked. So when he ordered his food, I tried to find something safe on the menu. I’ve had omelets there before without a problem, so I stuck to that. It was fine for the first half of the omelet, then I accidentally flipped it over. The underside of the omelet didn’t look like an omelet. It looked like a pancake. Oh, that is bad. So I set aside that part and didn’t eat it, hoping that I’d be OK.

Two hours later I started breaking out in hives. Then my face started to burn and swell. By the time I got home I felt awful. I laid down on the couch for a minute, and woke up some time later, fatigued and confused. OK, I’ve been glutenized. Groggy, and painful. No more omelets at Angelo’s. If I had a diagnosis of celiac disease, there is a medication the docs could give me for the skin problems that come when I’ve gotten into unexpected gluten. I can’t get it because I don’t have the diagnosis.

For the celiac testing, the usual progression is if the blood test is positive, then they do an intestinal biopsy, or a skin biopsy if the skin is the primary symptom. Rarely, some places will do the biopsy with a negative blood test if the symptoms are strong enough, but you still need to be on a gluten diet for any of these tests to work. The final court of last resort is a genetic test. The insurance really doesn’t like to cover that, and it wasn’t an option for me until I was offered the opportunity to join the PGen study.

So now, I’ve sent in the sample. When I filled in the questionnaire for the study I emphasized celiac as a condition of interest in my family genetics. A message from them said it would be included in the tests they’re running. I’m sitting here, suffering from a gluten reaction, with my face and mind both on pins and needles, wondering what the results will show. Do I have celiac? Or will the test result show another negative? I am almost dreading finding out. What if it’s negative again?