Celiac Disease :: Our Journey to Diagnosis

Did you know that 1 in 100 people have celiac disease but only 5% of those knows they have it?

For years we were that 95%.

It began when our oldest child (now 10) turned two years old. We spent two years in and out of doctors offices before we were accurately diagnosed.

Almost overnight she developed digestive problems, mainly in the form of chronic constipation. Her tummy was stolen and distended. A weekly bowel movement (if that) was our norm, and it would almost always clog our toilet. Bad.

We tried everything to cure her of this – change in diet, medication, home remedies. She was even hospitalized once for severe constipation. Deep down my husband and I knew something wasn’t right, and I was growing weary of the doctors recommending the same things and subtly suggesting that everything was our fault (not feeding her well, for example).

We had a second child, another girl. A few weeks in to having her home she began projectile vomiting nearly all of the contents of her stomach after nursing. She had to be upright most of the time to prevent the vomiting spells. She was fussy, almost always uncomfortable, and was very tiny. The doctor prescribed baby Zantac for her, thinking she had infant reflux (GERD). This helped slightly but did not improve her quality of life by much.

After four-to-five months the vomiting episodes were less frequent, but our youngest was not gaining much weight. Measuring in the 25th percentile at birth she steadily declined with each check-up, and eventually weighed in at the 1st percentile. Her iron levels were low. She acted lethargic most of the time. By the time she was three-years old she developed new symptoms in addition to the ones she already had: leg, arm and body pain & stomach pains and also loose stools/diarrhea. It got so bad at times she was in tears. Doctors told us she was just tiny and that she suffered from growing pains and occasional constipation. But deep down inside my husband and I knew something wasn’t right. (By the way, our oldest daughter, now four-years old, still had bowel movement issues.)

About this time we had our third child, a son. When he was 8 or 9 months old he began to have bowel issues as well: very frequent and very foul smelling, mucous-y stools. Doctors were baffled by him and told us that he had toddler diarrhea, but would grow out of it. Deep down my husband and I knew something wasn’t right so we sought out second opinions for all three of our children.

I made an appointment with the pediatrician (again) and requested that my children’s be tested for celiac disease. The doctor was somewhat hesitant and unsure when I asked him if all of my children’s digestive problems could be celiac disease. The impression I got (from him and several other doctors in the practice) was that I was a neurotic mom and that my children were fine. But I was not satisfied with their diagnoses. They all seemed to suggest the same things: change in diet, reduce juice, take Miralax daily indefinitely.

Deep down I knew something wasn’t right.

The doctor tested them for celiac disease. A week later I got a call from my children’s pediatrician. With amazement and surprise in his voice he explained that my middle child (the one who vomited so much and was diagnosed GERD) tested positive for celiac disease, but that my oldest child (severely constipated) and son (severely poopy) did not. I had mixed emotions relief that something was discovered and we could move in the direction of treatment

I was overwhelmed at the new world we were about to enter. It sounded daunting.

I was confused over what could be wrong with my other children

I was frustrated with our pediatrician’s office for their lack of support or knowledge

I felt vindicated that I wasn’t a neurotic mom, that I fought for my children and didn’t give up until I got an answer.

Perplexed about my other two children, I sought the second opinion of a pediatric GI. She noticed my oldest child, in a technically sense, had blood test results that were “negative” but those levels were in borderline range (something the pediatrician never told me). The GI listened to our journey with our oldest’s constipation issues and recommended an intestinal biopsy to rule out/confirm celiac disease (biopsy is the only sure-fire way to know). My oldest’s biopsy results were positive, too. She had celiac disease, too. Relief, confusion and frustration returned.

In only what I consider to be God’s divine providence I learned that celiac disease runs in families. My father had been diagnosed with celiac disease just a few years prior, and neither he nor I knew it was genetic. I started connecting the dots.

With two of my children testing positive and my father having celiac disease I seemed to be the missing link. Fairly unsymptomatic, I was also tested for celiac disease. I passed with flying colors. The doctor’s exact words were “your readings were through the roof.” I also had celiac disease.

Once making the switch to a gluten-free diet we almost immediately noticed pain and discomfort were the first symptoms to disappear. Some of the other symptoms took a little longer to decrease, as it can take several months for the intestines to heal and repair themselves.

Curious about my son? Because it’s much more difficult to diagnose a child under the age of 3 he was re-tested 6 months after his initial test. This test also came back negative. Eventually his DNA was examined in order to identify the presence (or absence) of the genetic marker celiac disease. He tested positive for the gene and lives on a gluten-free diet as well.

A gluten-free diet has helped him, but not all his problems were solved through this change. After undergoing an EGD we learned that he has digestive enzyme deficiencies in addition to having celiac disease. A gluten-free diet, enzyme supplements and avoiding a few foods have allowed him to live a full and healthy life.

One of the main reasons I share this story with you is because I know many of you reading this are struggling with health concerns that have been plaguing you long enough to concern you. And perhaps your family doctor is trying address it but things are just not getting better. Or perhaps despite your physician’s advice something just doesn’t settle well with you. You know something is not right, you just don’t know what it could be.

May I encourage you to ask your doctor to test you for celiac disease? Usually bloodwork is done first. If you have bloodwork done, ask to see your results and compare your number with what is normal, abnormal and borderline. An EGD is the only sure fire way to get an accurate diagnosis, so you can even ask for this test as well.

Some people don’t want to go through all of this, and assume to just go gluten-free to save time and money of testing. I highly encourage you to NOT take this approach. If you have celiac disease you need to know it because it’s even more critical that you avoid gluten at all costs. It can also be helpful if you have further medical concerns down the road. Knowing you have celiac disease can impact courses of treatment. Some people are intolerant of gluten, but intolerance and celiac disease can have similar symptoms … but an intolerance means you can still ingest gluten but in very small quantities if you so choose.  If you eat gluten and have celiac disease you can increase the likelihood of you developing other health complications down the road.

Infographic: What are the symptoms of celiac disease?

All About Celiac Disease from the MayoClinic


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