what exactly is celiac disease?
So, what does all this mean? Where do we go from here? You’ve heard my story up to this point, and I’ve shared my life with you in the hope that I can show by example the twists and turns of this disease. Maybe you will recognize parts of your story in parts of my story—or in the stories of some of the people who’ve come to my bakery. Maybe this will help you cope, or not feel so alone. Or maybe this will give you a light bulb moment and you will realize that you might actually have celiac disease, too.
Now it’s time to talk about you.
If you’ve just been diagnosed, you might be scared, or confused, or just hungry for information. (Or just plain hungry!) If you haven’t been diagnosed yet, you might be wondering if you should get to your doctor, but afraid that he might not hear you or diagnose you properly. I hear that! In this second half of the book, I want to tell you what I’ve learned—about celiac disease, about gluten, and about everything your doctor probably won’t or didn’t tell you. This will help you make the right decisions for yourself and take charge of your life again—because nobody else is going to do it for you.
This is the book I wish I’d had when I was first diagnosed, when I knew nothing and nobody was there to help and guide me. I wish someone would have sat down with me to say, “Here’s what’s going to happen now,” and “Here’s what you need to do,” and “Here’s what to watch out for,” and “Here’s what you can eat when you feel like the whole world is poison to you.”
In that spirit, I’ll tell you all about celiac disease, and what you should know, and then I’ll give you some ideas, based on my own treatment and what’s worked for me. Everything I tell you that I did is, of course, “Jennifer’s Way,” and it might not be your way, but then again, a lot of what I tell you might work for you. I just want to give you options and ideas for what you can do to start feeling better and regaining control over your life. It takes a village of celiacs to help anyone learn how to thrive with this illness, so here I am, ready to lead the way. Let’s start by talking about exactly what you’re dealing with here.
Just What the Hell Is Celiac Disease?
When I first got my diagnosis, I was so relieved to know I had something real and it wasn’t all in my head. Great. But my very next question was, “What the hell is celiac disease?” So let’s clear this up right now. In case you haven’t already researched the heck out of your diagnosis, here are some basics that I learned:
Celiac disease is a very common autoimmune disease, which means that for some unknown reason (probably part genetics, part immunological, and part environmental), your immune system gets confused by gluten, thinking it is some dangerous foreign invader like bacteria or a virus. It was once thought to be a rare intestinal childhood disorder, but now, as you know, it is a common condition with a wide spectrum of manifestations. (Some people still operate under the false assumption that it is rare.)
Celiac disease causes the production of antibodies to the gluten protein, which then begin attacking your small intestine. The villi, which are the microscopic protuberances along the inner wall of your small intestine covered with tiny hairs that absorb nutrients from food, get slaughtered during this immune system assault. These villi are responsible for making (or manufacturing) vitamin D3, as well as the important brain hormone or neurotransmitter called serotonin. This is why there are so many brain and nerve problems associated with celiac disease (like depression, anxiety, memory loss, “brain fog,” and insomnia). Most of the serotonin in your body is made in the small intestine, not the brain.
Over the course of years, they can become completely flattened and damaged so that they can’t absorb nutrients. That means you eat food, but you don’t absorb the nutrients. Your body becomes malnourished, like you are on a desert island, slowly starving. To survive, your body begins taking nutrients where it can—first from your bones, then from your nervous system (where it attacked me), and from wherever else it can easily extract them. That leads to a laundry list of health problems related to malnutrition that will manifest differently for each person. In some, the symptoms are obvious. In others, they are subtle. Some people have gastrointestinal symptoms. Some have nervous system symptoms. Some have no obvious symptoms, yet the damage is being done. Sometimes, the effects wait insidiously, then go off like a bomb as soon as you experience stress or trauma. I have learned that these features that have nothing to do with your intestines (called “extra-intestinal features”) range from anemia to osteoporosis to cancer, as well as to other autoimmune diseases, especially those affecting the thyroid.
There are different theories about why some people get celiac disease and others don’t. Some of it is genetic, but some kind of stressor probably sets it off. This could be physical stress, like a virus or a bacterial infection in childhood, or emotional stress, like an extremely stressful event—an accident, a death in the family, or the chronic stress of a difficult life. A recent report from the Institute for Responsible Technology in Fairfield, Iowa, has proposed a link between genetically modified food and gluten-related disorders in some people. So much of the food we eat is far from its natural state, and that might confuse our bodies into launching an immune attack on itself.
But why is gluten the target? Of all the proteins in all the world, what is the big problem with this one, and why does about 1 to 3% of the population react so violently against it? (If you have a parent, sibling, or child with celiac disease, your risk goes up to about 1 in 22.) Gluten is a protein that naturally occurs in wheat, barley, rye, and other similar grains. (It does not occur in plain rice, corn, potatoes, quinoa, amaranth, teff, millet, or buckwheat.) Gluten is rich in glutamine and proline, and poorly absorbed in the human upper digestive tract, even in people who don’t have celiac disease. It also contains gliadin. Gliadin is the alcohol fraction of gluten, and it is soluble. Gliadin is the reason for much of the toxicity associated with gluten. This is very important because undigested gliadin is resistant to the breakdown from the stomach, pancreas, and those tiny hairs on the villi in the small intestine. As you can see, gluten is a tough sell for anybody’s digestion. It’s just a particularly dangerous problem in people with celiac disease.
But it’s in almost everything most people eat. In food, gluten is like a glue that holds things together. When you knead bread until it gets those elastic strings, that’s gluten. When bread rises, the gluten forms little pillows of gas. Without gluten or something that does a similar thing, baked goods crumble and fall apart. This all sounds fine, right?
But wheat has changed a lot in the thousands of years since people first started eating it. It’s been selectively bred to be heartier and more resistant, and it’s become more resistant to digestion in the process. We don’t know for sure whether it is the changes in wheat that have led to an increased incidence of celiac disease in this century, or whether it is simply because we eat so much more of it than we used to. Or maybe it is something else—our immune systems have been broken down by a chemically polluted environment, or something else is causing our immunity to go awry. There is a theory that getting a virus as a child can trigger autoimmune disease in genetically susceptible people because the gluten protein resembles certain viruses, so in fighting the virus, the body gets confused and starts attacking gluten, and therefore, your body. In any case, scientists believe the increased rate of celiac disease is not just due to higher rates of diagnosis. Something else is going on. Our bodies are objecting to gluten, for whatever reason. Even if you never know the reason, if you have celiac disease, you absolutely have to get gluten out of your life.
Celiac Symptoms
People often ask me my symptoms, and I hesitate to name them because I don’t want anyone to think that if he or she has different symptoms, then celiac disease isn’t to blame. The truth is that celiac disease manifests itself in a huge variety of symptoms. You might have stomach problems, or only neurological symptoms like anxiety and depression, or you might have bone and dental defects, or infertility, or any number of other symptoms. You might have many mild symptoms, or just one very serious one. Or you might think you have no symptoms at all (although once you know you have celiac disease, you may find that when you look back, you see the symptoms you didn’t realize could have been related, but probably were).
Everybody who has celiac disease experiences it in a different way because genetics and your individual makeup determine how the disease, not to mention the resulting malnutrition, will affect you. So please don’t think that if you don’t have a symptom, I’m not talking about you. I’m talking about all of you.
With that understanding, here are some of the symptoms, although this is not a complete list. You won’t have all of these symptoms, and you may not think you have any of them. Or you may have symptoms that aren’t on this list. I have divided this by symptom type:
GASTROINTESTINAL SYMPTOMS
This is the most common symptom category. Many people with celiac disease are first misdiagnosed with other gastrointestinal issues like irritable bowel syndrome (IBS), inflammatory bowel disease (IBD), or Crohn’s disease. Other diseases sometimes confused with celiac disease (because they also destroy the intestinal villi) are tropical sprue, intestinal lymphoma, eosinophilic gastroenteritis, and Whipple’s Disease. I mention these not to scare you, but to show you that there are other diseases similar to celiac disease that are not celiac disease.
But remember, gastrointestinal symptoms do not happen to everyone. In fact, up to half or even more people with celiac disease may experience no discernible gastrointestinal symptoms. Many, many people have completely different symptoms.
Think of symptoms as either gastrointestinal, or extra-intestinal. Those with classic or symptomatic gastrointestinal complaints vary, but here is a list of some of the typical symptoms:
Chronic diarrhea
Severe constipation
Abdominal bloating
Abdominal pain
Weakness
Malabsorption
Vomiting
Burning stomach/inflammation
Nausea
Anemia
Failure to thrive in children
Malabsorption is particularly important because it can cause so many other symptoms, so let’s take a minute to define it. Malabsorption literally means “bad absorption.” It can cause weight loss, failure to thrive in children, gas, and, most importantly, a variety of vitamin and mineral deficiencies.
The most common extra-intestinal symptom is anemia. This happens because of the lack of iron absorption, but it can also be caused by a B12 deficiency. This is why I frequently need either a B12 injection or an intravenous drip of minerals and vitamins. I want you to understand that this has been real for me, and, for a long time, it has been hellish.
NERVOUS SYSTEM SYMPTOMS
For me, the neurologic (nervous system) symptoms have by far been the worst. The most common neurologic symptom in people with celiac disease is neuropathy (nerve pain), which I suffer from. Another is dementia, which I do not have, but it happens to some people. Also, both anxiety and depression are linked to celiac disease. Here are some of the common nervous system symptoms:
Brain fog
Depression
Anxiety
Panic attacks
Neuropathy (numbness and weakness in nerves)
Ataxia (uncoordinated, jerky movements)
Palsy (especially weakness and drooping of facial muscles)
Various studies also offer evidence that other mental health issues could be related to the ravages of celiac disease, like:
Schizophrenia
Autism
Bipolar disorder
Attention deficit hyperactivity disorder (ADHD)
Psychosis
Dementia
OTHER SYMPTOMS
There are a host of other symptoms that seem completely unrelated to your small intestine or nervous system, but are directly related to nutritional deficiencies. I’ve experienced many of these. Maybe you’ll recognize some yourself. They include:
1. Liver symptoms. The elevation of my liver enzymes stumped many doctors, but this is commonly associated with celiac disease. I know now that 10% of all patients with unexplained liver enzyme elevation have celiac disease.
2. Bone disorders. Osteopenia and osteoporosis are commonly seen in patients with celiac disease. I never understood this, but now it makes sense to me. If the body is inflamed, which also means acidic, then it has to get balanced and become more alkaline. A major source of minerals that promote alkalinity exist in the bones, so the body leaches calcium to balance itself. It’s a survival mechanism. There are studies that have evaluated bone mineral density in celiac patients. The good news is that a truly gluten-free diet can reverse bone loss, so if you have this problem, you can repair your bones with diet until they are comparable to someone without celiac disease.
3. Other autoimmune diseases. You would think if you have one, you won’t have to suffer from another one, but, unfortunately, many people with celiac disease develop other autoimmune diseases at the same time. Some of these are lupus, rheumatoid arthritis, and even type I diabetes (the insulin-dependent kind). Yet, by far, the most common is an autoimmune thyroid condition called Hashimoto’s thyroiditis. In this disease, your body makes antibodies against your own thyroid, and this can lead to severe fatigue, weight gain, cold hands and feet, and depression. In my case, this also lead to hair and eyelash loss. This was devastating for me, and it took a long time in my case to connect this problem to my celiac disease. My doctor says up to 15% of his celiac disease patients also have autoimmune thyroid disease. That is a lot, but in many celiacs, this is never diagnosed.
4. Cancer. The most common cancer associated with celiac disease is non-Hodgkin’s lymphoma.
5. Infertility. This is perhaps the most common, but least discussed problem associated with celiac disease in both men and women. I recently read that the risk of spontaneous abortion in women with celiac disease is almost nine times higher than in healthy women. This may be what led to the loss of my pregnancy.
6. Dental defects, including enamel defects and teeth not coming in or coming in malformed.
7. Canker sores.
8. Dermatitis herpetiformis, a severe skin rash.
So this is what you are dealing with. It’s not pretty, and it’s not easy, despite what other people or books or doctors might tell you. I’m not going to degrade you by being some kind of rah-rah cheerleader telling you it’s all going to be fine. It’s not! Celiac is a disease that does not get better. It sucks that you have to have this disease. But you can move forward with your life, on one condition: You must stay far away from all gluten-containing products for the rest of your life. There is no cheating! Ever!
If You Haven’t Been Diagnosed Yet
Some of you may suspect you have celiac disease, but you don’t know for sure. Maybe you haven’t asked for a test, or maybe you have but your doctor didn’t want to give you the test. Or maybe you got a test, but the doctor said it was negative and you don’t have celiac disease.
It is not that simple.
First of all, you should know about how doctors test for celiac disease. (Dr. Fratellone has graciously checked this information over to make sure it is correct.) First, you will get a blood test that checks your antibodies to the gluten protein in your blood. If you have already been eating a gluten-free diet, the blood test could be negative, even if you have celiac disease. For this reason, you must be eating gluten when you get tested for celiac disease. If you want to get the test, don’t go gluten-free first.
The most sensitive antibody tests for the diagnosis of celiac disease are in the IgA class of antibodies, and there are three available tests for these:
1. Antigliadin antibodies
2. Connective tissue antibodies (these include antireticulin and anti-endomysial, or IgA EM)
3. Tissue antibodies (these include transglutaminase, or IgA tTG)
Most doctors, but not all, check the anti-gliadin antibodies, but this test is no longer considered sensitive or specific enough to be used as the sole diagnosis of celiac disease. Even so, this was the first and only antibody IgA test I had. I do not recall ever having the antireticulin antibody test, even though doctors now know that the endomysial IgA antibodies (IgA EM) are highly specific for celiac disease. This test can approach 100% accuracy.
If you have an unusually high level of any of these antibodies, then your doctor will want to do an intestinal biopsy, also called an endoscopy, to confirm that the villi in your small intestine have actually been damaged. The biopsy is a necessary part of the diagnosis. Dr. Fratellone says the biopsy of the small intestine still remains the gold standard for diagnosing celiac disease, and always should be done if the suspicion is high. Biopsy confirmation is crucial. This is a lifelong disease, and it can result in a high-cost change to dietary lifestyle, so you need to know the truth. Research suggests that the endoscopy should include four to six biopsy specimens, to be sure to check multiple areas for damage. This is why the blood test alone will not be enough to diagnose you.
But what if the blood test is negative? You could still have celiac disease. If the gliadin antibody is negative, get the other two serologic tests. If all three serologic tests discussed above are negative, still get the four to six biopsy samples. There are pitfalls in diagnosing any disease. In a celiac diagnosis, the failure to diagnose is in the hands of the doctor examining the biopsy specimen. There can be both under- and over-interpretation of the villous atrophy. Maybe the specimen was poor, or maybe the doctor didn’t biopsy enough areas. Every test has a risk of error. Also, it’s possible that atrophy of the villi could be caused by some other disease. It’s never simple or straightforward—this is the challenge of diagnosis! What I do understand is why my doctor always says, “The gut is the gateway to all disease.” It’s so true.
There is an exception to the endoscopy rule. If you have the skin rash Dermatitis Herpetiformis (DH), and your blood tests are positive, you won’t need an endoscopy, but you will need a skin biopsy. If the biopsy shows that your rash is DH, then you can be diagnosed with celiac disease.
Another good thing to know is that there is a genetic component to celiac disease and your doctor can test for this, too. This wasn’t done until much later in my case, but celiac is an HLA-associated disease. That means it is associated with the HLA genes. The two genes most likely to be linked to celiac disease are the HLA-DQ2 and the HLA-DQ8 genes, and a blood test can determine whether you have these. HLA-DQ2 is present in 95% of those with celiac disease, and the remainder of those people have the HLA-DQ8 gene. The presence of these genes doesn’t mean you have celiac disease or will get it, but means you could get it. The absence of these genes means you probably do not have celiac disease, so it’s very helpful to know this information.
Beyond direct tests for celiac disease, there are other tests your doctor may order to check for signs of conditions that often occur with or because of celiac disease. You might get a complete blood count (CBC) to test for anemia, and other tests to check your mineral and electrolyte balance, your cholesterol and triglyceride levels, your thyroid hormones, and your bone density.
So you have it or you don’t, right? Well, not so fast. Just to make matters more confusing, there is something called gluten intolerance. This is when your blood test does not suggest celiac disease, but you definitely have symptoms after eating gluten that go away when you stop eating gluten. If this is you, then you will feel much better on a strictly gluten-free diet. You might not be having the intestinal damage and severe health effects that a celiac has, and you might not have an autoimmune disease, but gluten could still be compromising your quality of life. Many, many people are “cured” of chronic fatigue, IBS, and other stomach issues, and low energy when they give up gluten. It’s harder not to have that diagnosis in hand when dealing with doctors (and insurance companies), but you know what you know about your own body, and if you know you can’t have gluten, then don’t have gluten and don’t let anyone convince you to compromise your health just because a doctor didn’t pronounce you a celiac.
The diagnosis of celiac disease sounds straightforward, and yet it still takes the average person eight to ten years or more to get a diagnosis. Some researchers believe that up to 90% of those with celiac disease don’t know they have it because they are either undiagnosed or misdiagnosed. If you are suffering and you don’t know why, and if my story sounds familiar, then this could be you! You could be one of those 90% who are undiagnosed or misdiagnosed. The rate of celiac disease is probably a lot higher than the numbers say right now, so if you aren’t getting anywhere with your health problems, ask your doctor to be tested.
And if your doctor doesn’t think you need it? Insist on it. You don’t have to be aggressive or rude. Just say something like, “I would just really like to know for sure that I don’t have this disease. Please do the test.” If it’s positive, then you know. If it’s not, then you still might have it and you have to keep searching. You might also have to redo the test. There is some evidence that there are a lot of false negatives in celiac blood tests. Even the endoscopy can be a false negative if they don’t biopsy multiple spots in the small intestine, because the villi could be damaged in one part and not in another. These tests are not 100% accurate, and many people have only been diagnosed after multiple tests, so just know the test isn’t everything. Much depends, among other things, on the skill of the doctor performing the endoscopy and the tech reading the blood work.
Trying to get a diagnosis is difficult, even excruciating, but don’t be afraid to get online, join a celiac forum, ask questions, and do your own research. If you don’t advocate for your own health and seek as much knowledge as you can find, then you’re never going to feel better. Ask questions of your doctor. Don’t come in and say you know you have celiac disease because you read it on the Internet (doctors hate that), but do explain that you are still not feeling well and you would really like to know. You have a right to know, and you have a right to feel better. Trust your instincts and get the test.
If You Have Been Diagnosed
A lot of the literature says that with strict adherence to a gluten-free diet, you will start to feel better in a few days and your villi will be totally healed in six months. Your doctor probably told you to “just” stop eating gluten, and you’ll be fine.
Well, some people are lucky enough to have that experience, but I know many, many people who take longer to feel quite a bit better—up to a year to a year and a half, depending on how severe your case is and how damaged your villi are at the moment you give up gluten. Remember the detox I’ve been talking about? You have to contend with that. Gluten is addictive, and as it exits your system, you are probably going to feel a lot worse before you feel better. You can have major weird symptoms that I can’t even guess at because everyone is different, but it’s all part of the clearing out. Once you’re free of it and you’re not getting anymore gluten, the healing can begin, but the detox can take weeks or months.
You also have to contend with hidden gluten that can seem like it is everywhere. If you do “get glutened” (accidentally have some gluten), you can be laid out flat since you’ve been exposed to more damage that will have to be repaired. Even a tiny bit of gluten (an eighth of a teaspoon) can further damage your small intestine and make you feel like you’re going to die. This still happens to me, after all these years and everything I’ve learned, because it’s so hard to avoid gluten, and even products labeled “gluten-free” can still contain small amounts of gluten—legally! (I’ll talk more about this in a later chapter.)
Then there is something called refractory celiac disease, which means that your celiac disease does not improve on a gluten-free diet. This is uncommon but it happens (generally, more than 90% of people who have been diagnosed improve with a gluten-free diet). Usually, celiac disease that doesn’t improve is due to some unknown hidden source of gluten in the diet, but sometimes it’s not. It’s a wily and devious disease. Some people feel almost normal after a few months going gluten-free, and can stay feeling pretty good as long as they never consume even a little gluten (as I’ve said, this is easier said than done). Others will suffer health issues throughout their lives. It’s just the reality.
But I don’t want to discourage you. There is hope. If you’ve got that diagnosis, then you are headed in the right direction. You’ve gotten over a major hurdle. Just don’t be fooled. You have an autoimmune disease, and that’s never going to go away. I was told that I would feel much better as soon as I stopped eating gluten. Wrong. I also remember how sad, disgusted, depressed, and irate I was that it wasn’t so simple and that I wasn’t told the truth. I wondered if there was something wrong with me because I felt worse rather than better after my diagnosis. Nobody really told me about the detox period. There was so much I didn’t know.
Now I know that I wasn’t some kind of failure because I didn’t recover as quickly as Ms. X or Mr. Y. I was me, and that’s just the way it worked for me. Now I know that many other people share the same feelings of frustration for not recovering according to the schedule the doctor or some book says is possible. Eating a clean diet will make you feel better, but it does not cure you. You have to manage this disease constantly, and sometimes you will make mistakes, eat the wrong thing, push yourself too hard, or just wake up feeling like crap for no apparent reason. Don’t be discouraged if giving up gluten doesn’t completely cure you within a week. It won’t ever cure you, and anyone who tells you it will is trying to sell you something.
Here’s the real truth: celiac disease needs your constant attention. Damage to your health from malnutrition might have caused problems that will hang around for most of your life. (I still get neuropathy symptoms, joint pain, headaches, and skin issues.) You will live with it every day for the rest of your life, but it doesn’t have to be a death sentence. A gluten-free diet is mandatory, that part is completely and totally true, but in no way will it solve all your problems. You have to take away what’s hurting you, but you also have to figure out how to give your body what it hasn’t been getting.
And here’s the good news: Living gluten-free, healing your body, nourishing and taking care of yourself so you can start feeling better is entirely possible. It’s challenging, but you can do it. You have to do it, if you want to start living again.
About Your Doctor
Choosing a good doctor is challenging for celiacs because you need two things: genuine celiac expertise and a compassionate personality. Unfortunately, there aren’t too many doctors with both, but they are out there. You might just have to search for a bit and you might have to go through a few doctors before you land on the right one. A doctor who doesn’t know enough about celiac disease is likely to miss issues, not understand that issues are related to celiac disease, or misdiagnose you. A doctor who isn’t compassionate and who doesn’t actually listen to you is more likely to misdiagnose you as well, and may also label you a hypochondriac or a mental patient. To help determine whether your doctor will be right for you as you navigate this disease, ask a few questions, which my own doctor suggested:
1. Have you diagnosed and treated many people with celiac disease? (A knowledgeable doctor will have experience with this disease.)
2. Do you do blood testing for celiac antibodies? Which tests will you do? (You want a doctor who will do all three types of blood tests, as well as the genetic test, or who will be willing to do them if you request them.)
3. Do you test for food allergies? (Not all doctors believe this is useful, but it can be a valuable way to uncover additional allergies and sensitivities, which are common in people with celiac disease.)
4. Is there a possibility that my nerve/neurologic symptoms could be related to my gut issues? (Obviously, the answer should be yes, with an explanation.)
5. Do I need a biopsy of my small intestine, regardless of my celiac blood test results? (Yes, you do.)
6. Who will discuss my treatment if I have celiac disease, and who will help me plan my diet? (Either your doctor should be the person to do this, or should be ready to refer you to experienced people who can help you with lifestyle issues.)
7. Could the pathology results of my biopsy be wrong? (A good doctor will admit this possibility and be willing to work with you if you get a negative result that doesn’t seem right.)
8. Does celiac disease occur in families? My grandmother had these symptoms and died of non-Hodgkin’s lymphoma. Am I at risk for this? (Of course you are, but your doctor should recognize and be willing to discuss this.)
9. Is my inability to get pregnant/are my miscarriages related to my celiac disease? (This is quite well established, and your doctor should talk to you about this if it has been a problem for you.)
10. What are other symptoms in addition to “gut” or stomach problems that I might expect? (Your doctor should be able to give you information similar to what you find in this chapter.)
The problem is that a lot of the doctors out there don’t listen to you, or they already have it in their head what’s wrong with you before they actually know. You need a doctor who will really listen to what you’re saying and take the time to do the tests you need. You don’t need a doctor who will say, “Just stop eating gluten and see me in a year.” You need a doctor who will hear you, not make you a case study or decide you are exactly like the six other patients that kind of seem like you.
A good doctor will ask you what you are eating, what vitamins you are taking, and will tell you what you should be doing to get healthy, not just stop the damage. Look for someone who looks at you as a whole, and at your body as a whole. You are not part of a group. You are an individual. Go with your gut and your instinct about your own health. If you aren’t being heard, you have the right to look for a different doctor—and when you find one, you will discover that they are worth their weight in gold.