GF Lex – GF, Sister: The Importance of Testing First-Degree Relatives for Celiac Disease

(Edited by GF Lex on 03/13/2016 to amend broken links)

Perhaps I approached my celiac disease diagnosis with a unique perspective.

My symptoms were certainly not unique. As a young woman, I felt weak and generally “sick” most of the time, I was often disoriented, and I was retaining massive amounts of fluid. I suffered from severe indigestion, irregular bowel habits, and worst of all, bloating: my stomach was so distended that I agonized over the sensation of it stretching. Most intensely, I experienced a stabbing, cramping pain in my gut that worsened when I ate, and never went away. It reminded me of the way an ulcer would feel, and though I was incredibly hungry, nothing I consumed could ever sate or soothe me.

I was certain my number had finally come up. At age 21, I felt in my heart that these symptoms meant that I had cancer, and that I was going to die.

Why did I jump to this conclusion? Well, for one reason, I am incredibly paranoid. Another reason, however, was my unique perspective.

Since the age of 9, I had become someone accustomed to both living with chronic diseases and anticipating new diagnoses. In youth, I suffered from random bouts of tachycardia that would propel me through hours of petrifying arrhythmia until my heart would eventually slow. As I grew older, I was placed in a back brace for 23 hours a day for a year, in an attempt to straighten my moderate scoliosis. At age 15, I spent the better part of another year enduring fevers, aches, crippling lower abdominal pain, and uncontrollable, bleeding bowels. I lost 20 pounds, great fistfuls of hair, and most of my tenuous teenage sanity before I was diagnosed, then, with ulcerative colitis. In the years that followed, this was treated with aggressive rounds of both steroids and immunosuppressive drugs, until I was able to obtain a remission state at around the time I graduated from high school.

After enjoying a short time of finally feeling relatively “normal,” the bloating, stabbing abdominal pain began. I knew, at that point, what an ulcer felt like; for months my colon had been lined with them. I also knew that because of my ulcerative colitis, and because of treating it with immunosuppressive drugs, I had a much higher than normal cancer risk. That “cancer” was my first thought, then, was perhaps not unprecedented.

Retro Tubes

I made an appointment with my gastroenterologist, and after a blood test, an endoscopy, and several biopsies, my newest diagnosis was minted: celiac disease. The attachment of yet another “disease” to my name saddened me a great deal, but at the time, I did not know anything about this condition. “You can do this,” my doctor assured me, though. “But you will have to follow the gluten-free diet, and you will have to do it for the rest of your life.”

“Ok,” I said, not even knowing what this was. “What drugs do I have to take? Will they interact with my current ones?” At the time, I was choking down six different prescriptions at four different times of day, and living in dread of side effects like increased lymphoma risk, of water retention, of osteoporosis, of violent mood swings. I had nightmares of aplastic anemia, the sudden failure of one’s bone marrow to produce cells. It was a side effect of one of my immunosuppressive drugs, and one for which I had blood drawn every few months.

“There are no drugs,” she said. “Just the diet.”

I was more than a little confused by this. “What happens, then? Does this turn into cancer, or…?” Immediately, I thought this was some sort of segue illness. HIV before AIDS. Dysplasia before cancer.

“If you remain on the diet, you can live a long, healthy life,” she told me. Part of my increased cancer risk would be reduced if I stopped provoking my small intestine with gluten, I learned. My nutritional deficiencies would reverse themselves once my gut healed, and then much of my confusion and weakness would subside. My abdomen would deflate, and my pain would disappear. All of this was possible, through food and a little follow-up monitoring.

No drugs. No scans. And very few blood draws and scopes.

I was in disbelief. I was also ecstatic. I had a diagnosis, I had a plan, and my doctor was right. “I can do this,” I remember telling her. It would be a cakewalk. A walk for an unevenly-baked, collapsed-centered, cardboard-tasting cake from some alternate dimension, I would soon discover, but a cakewalk nonetheless. This was just one more thing, for me.

After beginning my gluten-free diet (and discovering the horrors of prepackaged GF food in the early 2000s), my symptoms did begin to vanish, though planning meals and discovering how ubiquitous gluten was (and the enormity of the task ahead of me) was something I had to adapt to. Still, I was confident that I could handle this diagnosis.

Bob's GF

My doctor did recommend, however, that my first-degree relatives be tested for celiac disease, as it is genetic, and my family apparently possessed a predisposition for autoimmune diseases.

The irrational guilt I felt about this was profound. I was the one member of my family unit who kept “getting sick,” accumulating diagnoses for things my relatives did not even know ran in our bloodlines because I had presumably won the Genetic Freak Lottery. Thankfully, my mother, father, and two younger siblings did not resist being tested. My parents came away clean, as did my little brother. My sister, however…

Let me just tell you a little about my sister, at that time.

Three years younger than myself, she had just started college. She was beautiful, social, a little wild, and way, way cooler than me. During her first stint away from home, she was wholeheartedly immersed in campus life. Eating pizza in her dorm, partying with friends, drinking beer with boys…

And I had to slam some screeching, rusty breaks on all of that fun. Her tests came back positive.

At the time, she was living with the oddity that is “silent celiac disease,” a seropositive state in which a patient is experiencing no symptoms. And then, seemingly for no reason, she had to remove all of her favorite snacks, comfort foods, and alcohol, and amputate a gigantic portion of her social life.

She was not approaching celiac disease with my unique perspective. She was approaching it with the perspective many “normal” people have. Celiac disease was the first major, life-altering diagnosis she had ever received, and was a massive intrusion upon her formerly-contented life.

It would not really be stretching it to say that she probably hated me for a minute.

Ok, maybe several minutes. A while, even.

But she began the gluten-free diet anyway, with the “gentle encouragement” (read as: forced compliance) and undying support of my dear family. Her life, like the life of every person diagnosed with celiac disease, was in the process of changing, forever.

***

Zoom Retro Results

A diagnosis of celiac disease is a tremendous thing to process. A patient is faced with a life-altering verdict, a need to comply with an entirely new way of not only eating, but living, and is encumbered with a great deal of study in order to learn what is and is no longer safe to consume. Our tasks, as patients, are gargantuan.

But for many like myself, one the most difficult of these tasks is having to convey to your relatives the importance of being tested for celiac disease, a diagnosis that could both save and irrevocably change their lives, as well.

All biological relatives of an individual with celiac disease are at risk of having or developing the disease, but the risk is highest for first-degree relatives (mothers, fathers, siblings, and children), being projected at anywhere from 4-16% greater than that of the general population. The American Gastroenterological Association and the World Gastroenterology Organization require that first-degree relatives be tested for the disease as a part of their diagnostic protocol.

The National Foundation for Celiac Awareness (NCFA) began a campaign this year to simplify the conversation with your relatives about being tested for celiac disease, and they have attempted to make this conversation as painless as possible (although, like celiac disease itself, a moderate amount of discomfort is probably to be expected…). Their “Talk. Tell. Test.” initiative includes the video “Seriously, Celiac Disease,” and several resources useful in beginning a one-on-one conversation with your family member. These include frequently-asked questions and “do and don’t” strategies for conveying your message effectively, based upon research findings.

Tubes

–        Firstly, inform yourself. If you are newly-diagnosed, there is so much to learn (and at least mostly comprehend) before you should attempt to educate another person. Give yourself a little time to become familiar with the risks involved with untreated celiac disease, with your own symptoms and potential others, and with the gluten-free diet. There are several resources linked from the NFCA’s website hashing out basic facts to relate to your relatives (if you feel you don’t know enough yet about celiac disease to have this talk, take advantage of “Getting Started: A Guide to Celiac Disease & the Gluten-Free Diet”).

This point, informing yourself, is a bit of a paradox: you want to be as educated as possible about your condition and its treatment (because it may become your relative’s condition and treatment, too!), but during your first conversation with your relative, much of this information should only be given when requested, and may have to wait for another time. Change, especially of the magnitude of a potential celiac disease diagnosis, is intimidating. In order not to overwhelm your family member, it is best to keep the initial conversation brief and positive.

–        Secondly, the setting for your conversation is important. It is the opinion (and result of the research) of the NFCA that the discussion you have with your relative should be one-on-one, in person, and in a relaxed setting separated from food-related activities. It is important that this conversation should happen only once. The dialog should not be initiated over social media or through email, but instead should be an open and personalized exchange.

Put some thought into how you would like to frame the conversation. It is important to bear in mind that although celiac disease is a condition that may be taking over your life, it does not yet bear such great significance (or interest) to your relative. It is advised that the gluten-free diet, probably our most troubling ongoing concern with this disease, be addressed only briefly here. Focus, instead, on conveying to your family member that their health is important to you, and that you have information to share with that may affect their wellbeing.

–        Next, during the conversation, be sure to address the following topics. Address what celiac disease is: a serious condition, and an autoimmune disease in which the body attacks itself (not a food allergy), with these attacks being triggered by gluten, a component of wheat, barley, and rye. This disease occurs across all races, in all ages, and in both sexes, and has increased in prevalence over the last 25-50 years. It is a lifelong condition, and is genetic. Many people with the disease may be unknowingly doing damage to their bodies if their celiac disease is “silent,” or presenting without (or with minimal) symptoms. Alternatively, they may be suffering from bloating, cramping, brain fog, weakness, or many, many other symptoms.

Discuss the importance of treating celiac disease, including some of the serious risks of leaving it untreated. Small intestinal, liver, and pancreatic cancers can develop, as well as lymphoma, and other autoimmune conditions, such as autoimmune thyroid disease and Type I diabetes. Severe malnutrition and its complications (everything from anemia to osteoporosis to various systemic impairments from vitamin deficiencies) are not only problematic, but chronic, and common. Fertility problems and spontaneous miscarriages also occur in women of childbearing age.

–        Finally, discuss the next steps, and (if agreed upon) decide on a plan. Testing for celiac disease involves, first, a blood test for IgA Tissue transglutaminase. If this is positive, an endoscopy and small intestinal biopsy are required to confirm a diagnosis.

It may be incredibly difficult to get a family member to listen to you or take you seriously. Some relatives will not want to be tested, and many will not want to be tested right away. The important part of the conversation you have is that you simply deliver your information. Convey the risks associated with the disease, and inform your relative how to get diagnosed (and therefore, treated). Most importantly, let your family members know that you are concerned for their wellbeing, that there are steps than can be taken to protect their health, and that you will be there to answer any additional questions, if they choose to revisit the conversation you have had.

DoF Results

If your relative is receptive and you have the opportunity to address the topic again, it is important to note that celiac disease can develop at any time. It is recommended that family members with a negative blood test retest every two or three years. A Columbia University study showed that over 3% of family members who initially tested negative retested as positive. The average time between a negative and positive test was only a year and a half.

It is crucial that a relative continue on their normal diet before being tested in order to obtain an accurate result; he or she should not try going gluten-free to “see if it helps” without first consulting a doctor. Long-term, accidental ingestion of small amounts of gluten in situations like these can lead to future complications, and monitoring the healing of the small intestine is required to ensure the effectiveness of the diet.

Genetic testing for the genes HLA-DQ2 and HLA-DQ8 is a further diagnostic step of debatable significance in most cases. If a person does not possess these particular genes, celiac disease can be ruled out. If a person does have them, however, the genes do not rule the disease in, only the risk of developing it; 40% of people possess these genes, but only 3% eventually develop celiac disease.

Drawbacks to genetic testing (besides its not being diagnostic) include the possibility that it might not be covered by insurance, or may only be conditionally covered; genetic testing for a condition without a “drug or surgical treatment” is often not paid for. Additionally, not all physicians are knowledgeable about genetic testing and its relevance to celiac disease.

In specific cases, however, genetic testing may be beneficial. A negative test does rule out celiac disease, and may eliminate the need to continuously test (for instance) a child, or alter that child’s diet.

***

GF protien powder

Over the twelve years since my sister and I received our celiac disease diagnoses, we have accumulated seeming lifetimes of additional experiences. We have become different people for having to live with this disease. But we have come into ourselves, as well.

As all of us would hope to do, my sister matured into a far more fulfilled and expansive individual than she was when beginning college. She now possesses a gratifying career in which she serves others in need. She leads a rewarding social life, full of friends earned through her kindness, integrity and generosity over the years. In her husband, she has met the perfect partner, and the two live in a home of their own, for which they have worked hard together.

My sister also recently had an experience that her celiac disease, if untreated, could have prevented: she has just welcomed into her life a full-term, healthy son.

Some relatives of individuals with celiac disease may not want to hear about the condition. They may dismiss it as trivial or not worth treating, or worse, may not give it credibility as a medical diagnosis. However, I feel it is our duty as patients to assist others in similar situations, to provide safe and enjoyable futures to those whose lives may unknowingly be being impacted by the disease. Sometimes the most you can do is deliver the information to a family member, and allow them to make the decisions that they must.

I can attest, however, that early diagnosis is effective in preventing complications. Although the gluten-free diet can be difficult to undertake and maintain, it can change a person’s life, immeasurably, for the better.

Being able to hold the next generation of my family is a testament to this. By being tested, we can be treated, and we can survive to accomplish new and wondrous things. This world is filled with possibilities, experiences, and potentials, and neither you nor your family members should miss a moment of them due to untreated celiac disease.

 

Works referenced, and further reading:

“Celiac Disease: Who Is At Risk?” by Claudia Dolphin, MA on the National Foundation for Celiac Awareness website, 2015.

“Genetic Testing Can Reveal Your Family’s Chances of Developing Celiac Disease,” by Amy Leger, on Gluten-Free Living’s website, June 2015.

“My Close Family Member Was Diagnosed With Celiac Disease. Should I Be Tested?” by Jane Anderson, on About Health, January 2015.

 “New Campaign Helps At-Risk Families Test for Celiac Disease,” by Daniel Gaitan, on Reuters’ website, April 2015.

“Screening for Celiac Disease,” by the University of Chicago Celiac Disease Center, 2016.

 “Spouses & Relatives of Celiac Disease Patients at Risk for Autoimmune Diseases,” by Rachel Steigerwald, on the American Gastroenterological Association website, June 2015.

“Talking to Your Family About Getting Tested for Celiac Disease,” by the National Foundation for Celiac Awareness, 2015

All photos copyright Alexis, aka GF Lex, 2015.

12 thoughts on “GF Lex – GF, Sister: The Importance of Testing First-Degree Relatives for Celiac Disease”

  1. A great article, I was diagnosed in 2004 after many tribulations .
    Our oldest Son has celiac it took quite some time until he started
    the celiac diet. He started to look awful and could not take the
    problems any more . He did get a positive blood test but that’s all.
    After many trials I finally got him to go on the celiac diet and he is doing
    better now and follows it strictly. There is much in between I don’t want to get in too.
    I am doing fairly good after 13 years I am 81 now, an believe I met Laurie S. in 2004.

    1. Thank you for sharing your experience, and thank you very much for reading and commenting. I am glad that both you and your son were able to begin healing after starting the diet; it is so unfortunate that before this step is taken, often we do have to persevere through what becomes one of the lowest points in our lives. I I hope that most of your families trials with this disease are now behind you, and that health and peace are much easier to attain and enjoy, now that the problem has been addressed.

  2. Congratulations on another wonderful article. So helpful to people new to the dealio! That’s a word ,really.
    Love, MOM XOXO

  3. Another fabulous article, Alexis. Thank you for candidly sharing your story & experiences. Family members often avoid testing because they don’t understand or appreciate the consequences of undiagnosed/untreated disease. In the case of CD, it’s always better to KNOW than NOT KNOW. After all, if present, the disease doesn’t go away. I’ve had countless patients tell me their teenage/adult and symptomatic family members refuse blood work screening because they simply cannot fathom adhering to the diet. The devastating thing about CD is NOT THE DIET… it is the damage done before diagnosis/treatment. What confounds me the most is the fact that the majority of our nation’s citizens with CD don’t know they have it! Therefore, they’re living with symptoms (abdominal pain & bloating, joint pain, fatigue, vomiting, constipation or diarrhea, etc.) and consequences (anemia, osteoporosis, the development of other autoimmune disorders, failure to reach height potential, fertility problems, neurological problems, etc.) but they don’t know why! It is my opinion that there should be far more emphasis & media coverage on screening for undiagnosed CD and far less on its treatment. Thank you, Alexis, for shedding light on the importance of diagnostic testing.

    p.s. Congratulations, Auntie Alexis! Bring some pics to next mtg. 🙂

    1. Thank you very much! And your points, as always, are spot on. There is such a devastating amount of damage being done prior to diagnosis. It saddens me so much that people avoid being tested because of the perceived difficulty of adhering to the diet. I agree that there needs to be much more press detailing the disastrous and tragic effects of undiagnosed celiac disease, and much less on scrutinizing the minutia gluten-free diet. Thank you for your advocacy, and for your invaluable information!

  4. I agree with you. Sometimes limits are placed on us, and if we rise to the occasion, we come out of the situation a better person. I am sorry you’ve been through so much, but sharing it will help families. The challenge of living gluten free is “do-able”, and hopefully our families will follow our example, get tested, and if need be, follow the diet to prevent serious conditions down the road.

    1. Thank you, Laurie. As difficult as these sorts of life challenges are, I can say that almost every person I have met who has chosen to face their celiac disease diagnosis and the complexities it brings to everyday life has become a stronger, more fulfilled, more empathetic person either because of or despite it (likely both).
      The wonderful thing is that although it is challenging, living gluten-free is “do-able,” and I am so glad we can help one another face the task in an informed, safe, supportive manner, together.

  5. Thanks so much for sharing your experience. Soon after my diagnosis I had the discussion about testing with my family members. Some chose to be tested and all tested negative. Some decided they didn’t want to give up gluten no matter the results. But, everyone is now aware of celiac disease and more alert to symptoms and the need for future (re)testing.

    1. Thank you for sharing some of your experience as well. I am glad that your family members chose to be tested, and that you were able to deliver the information you needed to in able to do your part to ensure their wellbeing. Because of your efforts, they now have the tools to care for themselves.

  6. My 4 year old son was diagnosed first…then it was me (which explained SO MUCH)…and then it was my aunt and two cousins. It has been two tough years since the first diagnosis. We’re still figuring it out. We still make mistakes, and we pay with pain. But today is better than two years ago. And two years from now will be better than today. Thanks for sharing so much of your story.

    1. Thank you for reading, and thank you for sharing some of your story, as well.
      As difficult, (at times) painful, and life-changing celiac disease is, I am so glad to hear your family members now have diagnoses. Discovering what is ailing you, and being able to move forward with that knowledge, is often both a blessing and a curse. But your attitude toward it is a great one, and sometimes makes all the difference in your treatment and recovery. You and your family members will become so much healthier and more comfortable as you learn how to navigate the disease; your lives will be able to become so much fuller. And as you have said: recognize that world of difference between a few years ago and now.
      Just imagine the good a little more time and experience will bring.
      I wish you and yours the best as you make this journey.

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