A Young Boy's Journey with Eosinophilic Esophagitis
Pediatric Specialists Help Five-Year-Old Manage Rare Allergic Inflammatory Disease
Even when Drew Mastrino has stomach pain all morning, he is anxious to go outside and play with his buddies. His parents, Kristina and Andrew Mastrino, worry but let their five-year-old son run off to the park.
"He'll say 'I can get past this because Batman can,'" Kristina Mastrino said, explaining that Drew often draws on the strength of his favorite superhero to help him cope with his struggles related to eosinophilic esophagitis (EoE).
EoE (formerly called EE) is an allergic reaction to food that results in chronic inflammation and swelling in the esophagus. It occurs when a food allergy causes an excessive amount of eosinophils (a type of white blood cell) to infiltrate the tube that brings food from the mouth to the stomach. Symptoms include difficulty swallowing, choking, abdominal pain, vomiting and weight loss. Because these symptoms can come on slowly and are similar to ones seen in other gastrointestinal disorders, eosinophilic esophagitis often takes a long time to diagnose. When the diagnosis is reached, the condition requires lifelong symptom management.
Helping Drew and his family manage his EoE is a team of pediatric specialists at the University of Chicago Medicine Comer Children's Hospital that includes an allergist/immunologist, a gastroenterologist and a dietitian.
Drew first came to Comer Children's as a baby for treatment of intestinal intussusception, a serious condition in which one part of the intestine "telescopes" into another. Exploratory surgery for the recurring disorder revealed enlarged lymph nodes, suggesting a problem in his digestive system. At the same time, Drew's parents observed worrisome signs in their young son such as refusal to eat some foods, reflux and frequent vomiting. Doctors here suspected EoE.
Pediatric allergist/immunologist Raoul Wolf, MD, did skin testing on the toddler. While this type of allergy testing is not conclusive for EoE patients, it is an important first step in diagnosing the disease. "Allergists play a supportive role in the initial management of EoE," Wolf said. "Our findings help narrow the list of possible allergens."
Timothy Sentongo, MD, a specialist in pediatric gastrointestinal problems that affect growth and nutrition, performed an endoscopy in June 2011. While Drew was sedated, Sentongo inserted an endoscope through his mouth and into his digestive tract. In addition to visually checking for inflammation and other signs of EoE, he took a small tissue sample from his esophagus. A biopsy showed extremely high levels of eosinophils in the tissue. "This confirmed the diagnosis," Sentongo said.
Eliminating Allergic Triggers
Identifying the foods responsible for EoE through an "elimination diet" is the first phase in designing a dietary therapy, the only known treatment for the disease. During this trial, the six food groups that trigger most allergies in EoE -- dairy, wheat, soy, eggs, nuts and fish -- are eliminated and then individually reintroduced in small amounts over time. Two months after each food is added back in the diet, an endoscopy is repeated to check for inflammation and the presence of eosinophils. If the levels of the white blood cells are high, a patient is allergic; if levels are low, the food can safely remain in the diet.
Pediatric dietitian Lara Field, MS, RD, guided the Mastrinos during the elimination diet process. She counseled the Naperville family on how to avoid nutritional deficiencies, outlining suitable food substitutions and giving tips on reading food labels to avoid accidental ingestion. "My job is to educate the family and help them navigate an allergen-free diet," Field said. "It's a lot to follow. It takes patience to get accustomed to new foods but eventually it becomes second nature for many families."
"It's a journey for Drew and his family," Sentongo added. "We do everything we can to reduce his symptoms, to keep him growing and to help his parents manage the disease."
By winter 2012, Drew's parents had some answers. Their son tolerated nuts and wheat, while soy, dairy and eggs increased eosinophils levels in his esophagus and triggered allergic reactions. They decided to hold off on the fish trial; it isn't a food group that interests Drew. Kristina Mastrino says they see progress and are getting the condition under control. Still, it's difficult for the preschooler when he has to skip the snacks and treats served at school. He wishes he could eat dairy, telling his mom. "I'll get it back someday." Although he doesn't vomit anymore, he still experiences stomach pain and choking.
These challenges will probably bring more trips to Comer Children's, although maybe fewer and further between. "Of course we don't like being at the hospital," said Kristina Mastrino, "but I do feel like Comer has become a second home to us. We have such good doctors and the nursing staff is great. And they always remember us when we come. We have a heart for Comer."
The family hopes and prays that awareness and research will bring a cure for the disease. Soon after she received Drew's diagnosis, Kristina Mastrino founded an EoE support group in the Chicago area that now meets regularly. This past summer, her family and friends hosted a festival in Naperville to raise money and awareness of the disease. Proceeds went to CURED, an organization that supports research in eosinophilic disease.
Eosinophilic Esophagitis Research: Looking for Answers
Although still considered rare, doctors are seeing more and more cases of eosinophilic esophagitis. Through basic and clinical research, scientists around the country are working to understand the underlying mechanisms of EoE and to improve therapy for the debilitating disease.
In an ongoing study at the University of Chicago Medicine, pediatric gastroenterologist and researcher, Tiffany Patton, MD, examines the good and the bad bacteria that live in both a normal esophagus and in one affected by eosinophilic esophagitis. To collect the bacteria, Patton joins Sentongo in the endoscopy suite when he performs a procedure on a patient with faint or active symptoms. Sentongo swabs the lining of the patient's esophagus with a soft brush and hands it to Patton. She walks it back to her lab where the samples are stored and processed for research.
"The bacteria appear to be dissimilar," said Patton, who has been collecting and studying samples for the past two years. "If we find even subtle differences, this information could help us direct therapy for the disease."
In addition, pediatric gastroenterologists at Comer Children's collect data on every patient, tracking patterns, studying growth issues and looking at how different individuals respond to treatment.
"We are trying to find answers for EoE," said Patton. "And we are looking for better ways to diagnose and control this serious disorder."