An Unexpected Test Result

Celiac disease is a genetic autoimmune disease that causes the body’s immune system to attack the proteins that make up what we call gluten (found in wheat, barley and rye). This autoimmune attack creates a toxin that destroys the villi of the small intestine, leaving sufferers unable to properly absorb nutrients. Untreated, it can lead to (among other things) nutritional deficiencies, failure-to-thrive, diarrhea, constipation, bloating, anemia, infertility, miscarriage, kidney damage, liver failure and eventually, death.

Diagnosis can be made with a blood test for the toxin, but it only tells you yes, or maybe – it doesn’t rule it out. So diagnosis is usually made and confirmed with a biopsy, confirming and staging the amount of gut damage. There is no cure, and the only treatment is a complete and total gluten-free diet, with no cheating, and no cross-contamination. There is no margin of error – a little gluten triggers the immune reaction. Some of the damage can slowly reverse. Some can be permanent.

My mother has it. My grandmother has it.

We suspected I had it, but after a blood test was inconclusive, I didn’t have a doctor who would do a biopsy to confirm. Years passed. Symptoms continued. I had a doctor who ordered the scope and biopsy, we were ready to go… and we learned I was pregnant. You can’t have a scope while pregnant. But eating gluten with celiac disease while pregnant poses an enormous risk – if mom doesn’t get sufficient nutrients, they can’t get to baby. So we made the decision to treat me as though I have celiac disease, knowing I’d now need to be on a strict gluten-free diet through pregnancies and breast-feeding. 

After being diagnosed with NET cancer, we learned that some of the symptoms can be confused with celiac disease, and since I have to have a scope done anyway, we decided to do the biopsy as a part of that to get a confirmation.

Before the scope though, my doctor ordered the blood work done, just to check, and one of the things he ordered was the genetic test. It’s not widely available, and it’s expensive, but was covered as part of this testing. I’d never had it done before.

Celiac disease runs in my family. I had symptoms. You have to have the gene to have the disease. Not everyone who has the gene has the disease – something causes a mutation, a trigger that activates the immune system to fight against gluten. But you have to have the gene to have the disease.

I don’t have the gene.

It’s startling. It’s mind boggling! It’s confusing, and amazing, and such a huge relief!

I don’t have celiac disease. I CAN’T have celiac disease.  (There are a few, very rare, very exceptional cases to this. And I seem to have some other rare things medically speaking! But practically speaking, I can’t have celiac disease.)

So what does this mean?

As much as I’d love to just rush out and get a big ball of dough, we’ll go slowly. After years without gluten, I’ll probably have developed an intolerance, just from lack of exposure. But we can reintroduce gluten!

Right now, in the middle of dealing with a cancer in my GI tract and scopes and possible surgeries and who-knows-what-next isn’t the time to just eat a whole baguette (that sounds so amazing!). But I have the all clear from my gastroenterologist to ‘eat what I want!’ so we will cautiously move forward.

The biggest thing is that we no longer need to worry about cross-contamination, for myself or the kids. Samuel is still allergic to dairy and eggs, and we will have them both tested by an allergist again soon, and we will request the genetic test for them to see if they can be cleared of ever developing celiac disease. The reason they were on the gluten-free diet was so that we could introduce gluten deliberately and be very mindful of possible reactions. We will still do that. But we can be a lot more relaxed!

So if you have offered a gluten-free, duty-free, egg-free meal but were worried about potential cross contamination of gluten, please don’t! We will stay gluten free for now and go slowly, but wow, what a weight off to not be so panicky about it!

And for all of you who have lovingly, diligently been so, so careful with us for the past four years… thank you. Thank you, so much, for your diligent care. You were cautious on our behalf, and fed us beautiful meals, providing my mother with delicious food she could safely and confidently enjoy, as well as providing me with peace of mind for myself and my children. Thank you.

In all of the bad news of cancer, and metastasis, and confusing, sometimes conflicting test results, and all the uncertainty, this one, totally unexpected piece of news is a blessing and a source of joy. I really didn’t think we would get this news, and I’m a lot more excited than I dreamed I’d be!

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2 thoughts on “An Unexpected Test Result

  1. Hooray for being free of being gluten-free!!
    It is such a gift to have your updates. Thank you. As I go through the day I never quite forget you the things you face, or the heroic and humble way you both go forward trusting in Divine Providence. Love you–Aunt Kate

  2. This is thrilling news for those of us who’ve felt a bit daunted by the thought of cooking a “safe” meal for your family! Much love to you-

    Jane

    Sent from my Verizon Wireless 4G LTE DROID

    Two Sleepy Peop

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