The actual process of diagnosing Celiac Disease is rather straightforward (from a diagnostic testing point of view). The process of getting to that point, however, can be a journey. Particularly when you’re diagnosing a tiny human that can’t tell you what’s actually wrong.
This article is about the journey (well, our journey anyway) of getting to the diagnostic testing. If you’re wondering about the testing itself, see this article instead.
Our two-year-old was diagnosed with Celiac Disease in 2019; but, she had been showing symptoms for almost a year. We just didn’t know it. We always had a baby that was… well.. we called her strong-willed. She slept well, but she didn’t always nap well. She was never the baby sleeping on your shoulder or chilling in the stroller. In fact, she did a lot of vomiting and spitting up as a baby, which we were told was reflux and we were given some anti-reflux medications to try and it seemed to work while she was a little baby.
When she was 12 months old, she had a febrile seizure that landed her in the emergency room. The doctors all brushed it off as a febrile seizure or breath holding spell and told us that she’d grow out of it. We settled on them being breath-holding spells because she always seemed to black out after a minor injury or something that startled her. Nothing to worry about.
Just before her two-year-old birthday was when we really started to notice the telltale symptoms. First, her belly started to stick out. Like, REALLY stick out. It was firm to the touch. She also had really never been a solid pooper.. lots of soft and runny stools. And lastly from a physical standpoint, she started to vomit. A lot. She would throw up after eating pizza. She would throw up in her sleep. She’d throw up at the playground.
One of the most troubling symptoms we experienced though was an extreme change in behavior. If you would have asked my wife or I at the time, we wouldn’t have been able to tell you if this was just a REALLY bad case of the terrible twos or if something more was going on. We just had no idea being that this was our first child. The girl that loved to play outside and see the neighborhood kids didn’t want anything to do with that anymore. She wanted to stay in and sleep. She would cry for hours. She’d have temper tantrums that would never seem to end — about everything. As new parents, we were absolutely at our wits end. Do we see a child behaviorist? Doctor? What the hell is going on.
Our first thought was that it was an allergy. Dairy? Eggs? We tried the basics of elimination and started to keep a log (super important). We noticed her getting skinnier, which only made her belly more apparent. At her two-year-old pediatric check-up we were very surprised to learn that our little girl who was typically in the 50th-percentile of almost everything was suddenly less than the 1-percentile in body weight.
Our pediatrician sent us to the E.R. for some additional testing (read more on that little scare here) where she was diagnosed with constipation. They gave us Mirolax and sent us home the next day. Holy smokes! Our little girl was back and smiling. We took her out for burritos and scheduled a follow-up visit with a pediatric gastroenterologist at the request of her pediatrician.
When we visited the G.I. and explained her symptoms and history, her immediate response was that she would “bet heavily on Celiac Disease”. Though we had come across Celiac in our own Google searches, this still came as a surprise to us. Looking back, I’m not quite sure why. What did this mean and how did we know it was the case? How could our daughter have this disease? Do we? How did she get it?
To determine for sure that this was the case, more diagnostic testing had to be performed. She needed a Celiac panel to be completed through bloodwork (the poor girl hates giving blood, but she took it like a champ) and then, if positive, a follow-up endoscopy to confirm.
Needless to say, her bloodwork came back showing very positive signs of Celiac Disease. More on the diagnostics here. Additionally, we learned that her intestines were very inflamed, which was an “a-ha” moment for us as to why the original constipation diagnosis and Mirolax actually helped her feel better. This also explained the size of her belly. She had so much inflammation that her food had nowhere else to go but “up”.
She needed to remain on a gluten diet until the endoscopy could be performed, which we were able to get done within about a months time. The process took about a full morning and involved light anesthesia. Our G.I. performed the procedure and took pictures of the inside of her upper G.I. tract. Sending her away with the doctors was heartbreaking. What she was looking for were the clear signs of damage to her villi on the lining of her intestines. The test, for us, was merely a confirmation of what the bloodwork told us and the very next day we began a heavily emotional journey into gluten-free living. That said, our daughter was herself again — laughing, smiling, and feeling incredible.