The Challenges of Diagnosing Celiac Disease: A Firsthand Account

Celiac disease is an autoimmune disorder that affects over 2 million people in the United States. Ninety-seven percent of people with celiac disease are undiagnosed. Living with celiac disease that is undiagnosed can cause major health complications–but simply diagnosing the disease can be challenging. There are approximately 300 known symptoms for celiac disease, but many people with celiac disease show no symptoms at all. Some common symptoms are abdominal bloating and pain, chronic diarrhea or constipation, vomiting, weight loss, fatigue, pain in joints, failure to thrive, psychiatric disorders, and complications from malnutrition.

Diagnosis is further complicated by the fact that gluten intolerance affects 6-7% of the population(roughly 18 – 21 million people), which also presents a wide range of its own symptoms. To diagnose celiac disease, genetic and blood screening can be used, but it is ultimately diagnosed with a biopsy. Non-celiac gluten intolerance was only recognized as a distinct condition in early 2012 by a panel of international experts. Clinical evidence shows it exists, but it is not well understood. Two great resources to learn more about gluten intolerance are the Gluten Intolerance Group and the University of Chicago Celiac Disease Center. There is currently no medical test for non-celiac gluten intolerance. Generally, a positive response to an elimination diet or gluten challenge are the best ways to determine gluten intolerance. It is recommended that this be done under the supervision of a trained professional.

As someone with a severe gluten-intolerance, I know first-hand the challenges related to diagnosis. I suffered from a wide range of symptoms, and none of my doctors could tell me what was wrong. At various times, I suffered from the following:

  • Extreme abdominal pain, bloating, and constipation (It felt like I was digesting glass)
  • Extreme fatigue (It felt like I always needed to go to sleep. Day to day activities were exhausting and I could barely make it through the day.)
  • Cloudy thinking (It felt like I had a permanent hangover)
  • Extreme weight loss (lost 30 pounds)
  • Inability to sleep (If I have gluten, I am guaranteed to be up until four or five in the morning laying in bed. It is like my body goes into super fight or flight mode and cannot come down.)
  • Joint pain
  • Rashes
  • General weakness
  • Irritability and mood swings
  • Heart palpitations

I underwent a ton of testing to determine what was wrong, but it wasn’t until I eliminated gluten that I began to feel better, and the root cause could be determined. To achieve my diagnosis, here are the tests that I underwent:

  • Multiple blood test for white blood cells, etc.
  • Heart EKG
  • Celiac screening – blood
  • Endoscopy
  • Colonoscopy
  • Biopsy
  • Sleep apnea test
  • Elimination diet

Basically, the first day of being gluten-free, it was as if a fog had been lifted and I could see and think clearly for the first time. Over time, the gluten-free diet restored other aspects of my health back to normal and am still on some levels recovering to this day.

Many celiac and gluten intolerant people struggle with diagnosis and have similar stories as me. What about you? What was your journey to diagnosis like? Let us know by posting a comment below.