By Jamie Friedlander

After spending six weeks in Guanajuato, Mexico in 2006, I returned home incredibly sick. I had sallow skin, dark circles under my eyes, severe fatigue, abdominal pain and more than anything, I had to run to the bathroom every 10 minutes. My parents took one look at me when I got off the plane and knew something was wrong.

My pediatrician assumed I had contracted some sort of parasite in Mexico, but after months of testing, he was stumped. He sent me to a gastroenterologist, who specializes in diseases of the digestive tract.  But she  couldn’t figure out what was wrong with me. I was still sick. I knew the doctors were worried because for several months (brace yourself) my stools were pale peach.

And then one night I got an unexpected call from my gastroenterologist – she had made a mistake and overlooked blood test results from three months earlier. Though I needed an endoscopy (a scope down the digestive tract) to verify it, she said she was almost certain I had celiac disease.

Celiac is an inherited autoimmune disorder that affects the small intestine. If someone with celiac ingests gluten – a protein found in wheat, barley, malt and rye – their immune system attacks the small intestine. This autoimmune response stops the body from absorbing nutrients.

In some people with celiac disease, the smallest amount of gluten – such as a bread crumb the size of a grain of sea salt– can cause an autoimmune reaction in the body. In Mexico, my diet included 10 to 15 flour tortillas each day. The disease was so rarely diagnosed at the time of the endoscopy that the nurse gave me graham crackers when I woke up from the procedure.

Around 1 in 133 Americans have celiac, or about 3 million people. That’s roughly the population of Nevada.

Of these 3 million people, around 83 percent are undiagnosed, according to the National Institutes of Health.

“To me, there is one main, simple reason that explains most of this, and it is the fact that celiac disease often has minimal symptoms or no symptoms at all,” said Dr. Stefano Guandalini, the founder and medical director of the University of Chicago Celiac Disease Center. Even when people are symptomatic, these symptoms aren’t always gastrointestinal.

[field name=”celiac chart”]

Dr. Alessio Fasano, the director of the Center for Celiac Research at Massachusetts General Hospital, echoed Guandalini’s sentiment.

“You are talking about a condition that can affect any tissue or organ with symptoms that are sometimes very vague and sometimes they’re non-specific, and therefore they’re struggling to look in the right direction,” he said.

Fasano said, for example, someone with iron deficiency anemia, or a lack of healthy red blood cells due to low iron in the body, might see a hematologist and someone with joint pain might see a rheumatologist and if these specialists aren’t aware of and screening for celiac disease, they can miss the diagnosis.

People come about their diagnoses in drastically different ways because the symptoms of celiac can be so vague. Though I had some of the more “classic” symptoms of celiac disease (which are anemia, diarrhea and abdominal pain), there are more than 200 symptoms. Steatorrhea, or the pale peach stools, is also a sign of celiac – it means the body cannot absorb any fat due to the damage in the small intestine.

More typical gastrointestinal symptoms include diarrhea, vomiting, abdominal pain and weight loss. Other symptoms can include neuropathy (numbness and pain in the hands and feet, which I experienced), tooth discoloration, mouth sores, tingling in the legs, anemia and severe fatigue. Some people also have dermatitis herpetiformis, a type of blistering skin rash. Emotional symptoms, such as anxiety and irritability, can also occur.

While children with undiagnosed celiac disease tend to have more “classic” symptoms, one of the most common signs in adults is iron deficiency anemia that doesn’t respond to iron treatment, a symptom that led to Diane McKiernan’s diagnosis.

McKiernan, a research coordinator at the U of C celiac center, was plagued by iron-deficiency anemia throughout her childhood. In 2009, while McKiernan was in college, her physician finally referred her to a hematologist, who specializes in blood disorders,  because she thought she might need iron injections. The hematologist then diagnosed her with celiac disease.

Oddly, some people with celiac disease don’t show any symptoms. The U of C celiac center reports the landmark prevalence study for the disease showed 60 percent of children and 41 percent of adults diagnosed during the study were asymptomatic. My twin brother Zach, now 25, was diagnosed with celiac in December 2014 and he showed no symptoms – he got tested because I have the disease.

Carol Shilson wasn’t as lucky. Shilson, the executive director of the U of C celiac center, had a lot of gastrointestinal symptoms and joint swelling, “to the point where I would look like the blueberry girl from Willy Wonka,” she said. After 11 years of misdiagnosis, Shilson finally got diagnosed with celiac  in 2005 after her niece was diagnosed.

Over a coffee at Barnes and Noble in Evanston, Michael Frolichstein, 46, a documentary filmmaker, spoke at length about his experience with celiac disease. Frolichstein, who is soft spoken with pale skin and short brown hair, said his symptoms went decades back, all the way to adolescence. Now in his 40s, he said he always thought he had a “nervous stomach” and he thinks he was labeled as a kid who just didn’t like school.

As Frolichstein got older, his gastrointestinal symptoms continued, along with a brain fog many people with celiac disease experience. “I always knew something was wrong with me,” he said.

After years of misdiagnosis, acupuncture and people telling him it was just in his head, Frolichstein saw a doctor who diagnosed him with celiac. Frolichstein’s daughter also has celiac  and she got diagnosed when she was just 3. Frolichstein is finishing up a documentary called “The Celiac Project.” Part of his movie follows his teenage nephew as he gets diagnosed with the disease.

Complications from going undiagnosed

It takes the average person with celiac disease four years to be diagnosed, according to the U of C celiac center. Though I cannot say for sure, I am fairly certain I went undiagnosed for about three years. While my gastrointestinal symptoms started only about six months before my diagnosis at 16, the years leading up to that were filled with fatigue, bloating and anemia.

Ironically, when I first came home from Mexico, my pediatrician thought the cure to my persistent diarrhea was to go on a bland, starchy diet of bread, crackers and cereal. Little did I know this was only exacerbating the problem.

If a doctor suspects someone has celiac disease, he or she will most likely order a tTG (tissue transglutaminase) blood test, which tests for antibodies that would be elevated in someone who has undiagnosed celiac disease. After a positive blood test, the doctor does a biopsy through an endoscopy of the small intestine to confirm the diagnosis.

People who treat their celiac disease with a gluten free diet lead normal, healthy lives. Those who don’t follow the diet or go undiagnosed for a very long time may not.

“Celiac patients who are on a gluten free diet have the same if not better life expectancy than the control population,” said Guandalini. “But patients who are not following the diet – several studies have actually reiterated or demonstrated this – they have a shorter life expectancy. So they die at an earlier age than expected according to the general population.”

Guandalini also said even if people with celiac eat gluten every now and then, it still puts them at a higher risk for malignancies, heart disease and other conditions.

In children, undiagnosed celiac disease can lead to short stature, weight loss, iron deficiency, malabsorption and various other problems.

“The most frightening complication in kids by far is that they are short not because mom and dad are short or because they’re destined to be short, but because they have impaired function in the GI tract to absorb efficiently,” said Fasano.

Unexplained infertility in women can also be a sign of undiagnosed celiac disease. However, according to Guandalini, researchers still don’t know exactly why. “But there is a general consensus that in reality, miscarriages, infertility or reduced fertility can be a consequence of celiac disease untreated and undiagnosed,” he said.

Untreated celiac disease can also result in osteoporosis, a condition in which the bones become weak and brittle, infertility, neurological conditions, the development of other autoimmune disorders and sometimes cancer.

For example, several months ago I had two blood tests with elevated tTG antibody levels even though I was on a strict gluten free diet – this meant my immune system was in “attack” mode. When someone with celiac eats gluten, their immune system sees it as foreign invader, similar to a bacteria or virus, and goes into attack mode, which damages the small intestine.

At first, my doctor thought there was a minor chance this could have been small bowel lymphoma, so I had a biopsy. Small bowel lymphoma is an extremely rare form of cancer in the immune tissue of one’s small intestine that is slightly more common in those with celiac.

Though I am happy to report I do not have lymphoma, the whole experience showed that I am more sensitive to gluten than I thought – to the point where the tiniest amount can affect me and cause my blood test to spike.

Dealing with the fad diet

I’m all too familiar with the eye rolls I receive when I tell people I’m gluten free. Every so often, the person I’m speaking with tells me they’re gluten free too (without having celiac disease, I should add).

A recent survey found that about one-third of Americans say they are trying to eliminate gluten from their diet. Some of these people do so because they have perceived gluten intolerance – they feel better when they eat gluten free. Research has yet to  show definitively whether non-celiac gluten intolerance is real, though some studies suggest it might be.

“It creates this idea that we’re all kind of on this fad when it’s life or death for us with celiac disease.”

– Michael Frolichstein, “The Celiac Project”

Other people, however, just eat gluten free to be healthier. In reality, avoiding gluten is not necessarily healthier for people without celiac disease. This can be incredibly frustrating, because when I tell people I’m gluten free, they brush it off as though I were on the latest fad diet, like South Beach or Atkin’s.

In fact, Jimmy Kimmel recently did a skit in which he asked a group of people trying to eat gluten free what gluten actually is. Not one of them actually knew.

“I think that people automatically think it’s healthier because of the fad right now, but they don’t realize a lot of the products are actually pumped with more sugar and fat to give it the mouth feel of gluten,” said Lori Welstead, a dietician at the U of C celiac center.

For many with celiac, the recent fad can cut both ways. Robert Cox, who has celiac disease, said it’s like a double edged sword. The fad has led to a wider array of reasonably priced gluten-free products on the market. Ten years ago, all I could find was dense, disgusting bread made from brown rice that felt like eating wet cardboard.

However, it has also led to the stigma that eating gluten free is wimpy or foolish. (Cue the Super Bowl ad that received much criticism from the celiac disease community.)

“It creates this idea that we’re all kind of on this fad when it’s life or death for us with celiac disease,” said Frolichstein.

Contrary to popular belief, many people gain weight after a celiac diagnosis. According to Welstead, this happens for two reasons. Once on a gluten free diet, people with celiac disease begin absorbing nutrients they weren’t absorbing previously. They also get “excited” whenever they see safe foods, such as gluten free cookies, breads and crackers, and they may binge on them.

“Sometimes you look at the gluten free cookies and they could be double the calories, double the fat,” said Welstead.

The opposite happened for me. While I didn’t actually lose much weight upon being diagnosed (around five pounds) I went down two full pant sizes because I was so bloated from not absorbing anything. I also didn’t fall into the weight gain trap because there were hardly any gluten free products when I got diagnosed, so I resigned myself to mainly eating rice, fruits, veggies and meats.

The intricacies of cross-contamination

The eye rolls I get when I tell someone I’m gluten free get even worse when I ask them to change their gloves or wash their hands when preparing my food. I do this because of cross-contamination – the hidden danger of celiac disease. Because of cross-contamination, a lot of celiacs, including me, avoid eating out a lot.

Cross-contamination occurs when a food with gluten comes into contact with a food without gluten. Just eliminating gluten doesn’t cut it for those with celiac disease. If a chef uses a knife to spread mustard on both regular and gluten free bread, this could cause a reaction in someone with celiac disease. Innocuous things, such as living with someone who eats gluten and sharing plastic containers and wooden spoons with them, can also be dangerous.

Even if a restaurant labels something gluten free, it can still undergo cross-contamination, making it difficult for those with celiac to eat just anywhere. “I think it’s wrong to make the assumption that all gluten free is created equal,” said Frolichstein.

When I accidentally eat gluten, I experience symptoms akin to either food poisoning or extreme constipation. Both ends of the spectrum. I once ate a pizza by accident (long story) and I didn’t have a bowel movement for six days. Therefore, I know what foods to avoid in the future. However, those with asymptomatic celiac disease, like my brother, sometimes struggle because they don’t know when they eat gluten by accident

“It was really a bit of a struggle because I didn’t have any [gastrointestinal] symptoms, it was just the anemia,” said McKiernan. “So I didn’t know what it meant to be sick.”

Many people with celiac disease also experience “brain fog” – for me, this feels like being distracted, confused, hazy and quite frankly, drunk. In fact, one study showed the level of impairment in some with brain fog, “was comparable to the level of impairment of people with a blood alcohol level of 0.05.”

I feel lucky at times that of all the diseases out there, I have celiac, because it can be controlled entirely through diet. As long as my diet is under control, I have no pain or symptoms. I’ll take the eye rolling, accidental gluten ingestion and excessive food label reading if it means I’m healthy and well.