How Rare is Eosinophilic Esophagitis Anyway? A Family’s Story Brings Awareness

According to a story from the Washington Times-Reporter, Michelle Marcinak’s three sons– John Henry, Leo, and Rafe– were all diagnosed with the rare gastric condition eosinophilic esophagitis. Early symptoms of the condition are often nonspecific. Children may complain of nausea and stomach pain, which can easily be dismissed as a more common ailment. Although the diagnosis was scary at first, Michelle’s sons are responding well to treatment.

About Eosinophilic Esophagitis

Eosinophilic esophagitis (EoE), is a condition in which the esophagus become inflamed due to an allergic reaction that involves the activity of eosinophils, a form of white blood cell. Generally, the allergic reaction is triggered by some type of food that the patient has eaten, but it is often difficult to determine which specific food item is the cause. Symptoms of eosinophilic esophagitis include difficulty swallowing, nausea, painful swallowing, heartburn, rings in the esophagus, narrowing of the esophagus, blockage of the esophagus, and vomiting. Current treatments involve medication to suppress the immune response, eliminating known food allergens, and expanding the esophagus. Many people with the condition also have other autoimmune problems, such as celiac disease or asthma. To learn more about eosinophilic esophagitis, click here.

Getting Diagnosed

Michelle ended up playing a pivotal role in discovering that her oldest son, John Henry, had the condition. When he continued to complain of stomach disturbances, he received treatment for acid reflux, which was having no effect. During a visit to the allergist, Michelle happened to discover a brief article that described eosinophilic esophagitis. To her shock, the symptoms appeared to match perfectly. Like many rare illnesses, eosinophilic esophagitis is a challenge to diagnose because of the variation in symptoms and their intermittent nature. Nevertheless, Michelle’s story is a testament to why it is always important to keep researching.

Why Many Patients Are Not Diagnosed

Her youngest son Rafe had a piece of food blocking his intestine, which was the first major warning sign that he also had the condition. Many people may go undiagnosed, and some patients develop coping strategies, such as chewing extensively, avoiding hard or crunchy foods, eating food in very small pieces, or eating very slowly. Others may wash down a meal with a large beverage in an attempt to push food down.

Eosinophilic esophagitis definitely runs in families, as the Marcinak’s case would suggest. Thankfully, the boys seem to respond well to steroid treatment, which, for the time being, is keeping their symptoms in check.


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