Family Testing: Personal Stories from the Community
Celiac Disease Diagnoses for a Mother and Daughter
By Julie Kennedy, diagnosed with celiac disease in 2014
My 8 year old daughter, Abbey, and I were diagnosed with celiac disease in 2014 after I experienced years of unexplained gastrointestinal issues and food preferences. Abbey’s one and only symptom was her delayed growth beginning at age 2. From start to finish, it took about 6 years for both Abbey and me to get a true diagnosis of celiac disease. My symptoms started when I was young. I could never explain why I naturally avoided bread, pizza, and pasta. Everyone thought I was a picky eater, and my mother had some difficulty planning meals and packing lunches for me. People I met were always perplexed when I told them about my dietary preferences and could never understand why someone would choose not to eat bread! After I had my third child, I started noticing more and more gastrointestinal issues as I would wake up in the middle of the night with cramps and experience diarrhea almost every morning.
Two years after having my third child, I met a friend who told me she had recently decided to become gluten-free and that it made her feel better, but she had no real diagnosis from a doctor. When we discussed the different foods that she had given up, I realized everything she was avoiding was everything that I naturally disliked. It took a while, but I finally made an appointment with my doctor for a wheat allergy test, and she suggested testing for celiac disease as well. I was shocked to find out I was a very strong positive for celiac disease. This finding was later confirmed through an endoscopy. During my endoscopy, my doctor also discovered Barrett’s Esophagus, which is a serious complication of GERD, a condition resulting from the acid in the stomach destroying the lining of the esophagus. She biopsied the area of concern in my esophagus and found that I did have precancerous cells. I am currently on a daily acid reducer and must have periodic endoscopies to monitor the growth of these cells. At the time of our diagnosis, I didn’t even know what celiac disease meant. It was only after I started doing research online, reading books, and talking to friends with celiac disease that I learned about this disease, which I believe Abbey and I have lived with our entire lives.
Through my personal research, I discovered celiac disease was genetic, so I had all three of my children tested by their pediatrician. My oldest daughter, Abbey, was the only one who came back with positive results. We were very surprised, because she had never demonstrated gastrointestinal symptoms. In fact, she loved bread and pasta – her favorite food was mac and cheese! The only link we could come up with was her delayed growth. At Abbey’s two-year-old welnness check-up appointment, her growth chart plateaued and continued to do so for the next six years. She wore 2T clothes for three years. She is currently, at eight-years-old, the size of a five or six year old. Initially, her pediatrician tested her bone growth through a wrist x-ray and her HGH levels with a blood test, and everything came back normal. Her pediatrician never considered celiac disease and just chalked it up to genetics.
With her endoscopy in August 2014, we found she had significant damage to her small intestines as well as her esophagus. Her villi were essentially flat, which confirmed a diagnosis of celiac disease. Abbey was also diagnosed with esophageal eosinophilia, which stiffens the esophagus so that solid foods have difficulty passing through the esophagus and into the stomach. From the outside, our daughter was a completely normal, happy child who showed no obvious signs of this damaging disease. We are still uncertain gluten is the cause of the esophageal eosinophilia, but the doctor said it certainly could be. We should know more if and when we perform another endoscopy. As parents, it broke our hearts to see pictures of her small intestines and esophagus and to discover the food we were feeding her was doing such damage.
Since our diagnoses, we have officially gone gluten-free in our home. Abbey has shown major improvements with her attention at school, sleep patterns, and her appetite. At her follow-up appointment 6 months later, we found her antibody count had dropped significantly, but it still isn’t perfect. As a result, we have not yet seen much change in her height or weight. The doctor assured us it takes time to completely repair the damage. I, however, feel like a new person with increased energy levels and significant improvements to my running workouts. I almost instantly dropped my average mile time by 1-2 minutes. I had no idea I could feel this good!
Once we got our routine in place and truly understood what living with celiac disease meant, I decided to approach my parents and sister about getting tested. My parents were both very receptive and happened to be scheduled for a routine colonoscopy within the next few months. My father’s doctor decided to perform an endoscopy to check for celiac disease while doing the colonoscopy and my mother’s doctor checked using a blood test. Both tests came back negative. My sister has not yet been tested. The only person in our family who may have had celiac disease was my father’s mother, who died last year from complications from pneumonia. My grandmother struggled with intestinal issues her entire adult life and even had a portion of her small intestines removed. She was never tested for celiac disease, but I am almost certain she had it. I am still confounded by my father’s results and not fully convinced the doctor did a thorough investigation.
The reason I want to share our story is because it is estimated that 1% of people have celiac disease, and of those 1%, less than half realize they have it. My daughter and I were in that category and had no idea our “normal” was correctable by a change in diet. My goal is to potentially help other families who have unexplained issues find some answers and lead a happy, gluten-free lifestyle!