Undiagnosed Reflux and Immune Reactions: Leonardo’s Story

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For months, Leonardo was too sick for the 90-minute trip to Children’s Hospital of Philadelphia, where a team of experts was trying to determine the cause of his strange symptoms. Today, after running many tests and asking many questions, they’re getting closer to finding answers.

Leonardo Leonardo’s mysterious symptoms started when he was a baby. He vomited often, and when he did, he would sometimes stop breathing and his lips would turn blue. The digestive problems did not affect his growth, but they did cause discomfort. “He cried all the time,” says his mother, Lesley. “He just wanted to be held.”

The family’s first consultation with a GI specialist led to treatment with medication, but that didn’t help. Then, when Leonardo was a year old, Lesley came across a description of the Integrative Health Program at Children’s Hospital of Philadelphia (CHOP). The program combines mainstream medicine with complementary health practices such as nutrition, mindfulness and yoga. The team looks at “the whole child” and works with other members of the child’s medical team to identify the best treatments.

It looked like they were taking a different approach, and that appealed to me.

Lesley brought Leonardo to see Maria Mascarenhas, MBBS, a pediatric gastroenterologist and nutrition pediatrician who is the Medical Director of CHOP’s Department of Clinical Nutrition and Director of the Integrative Health Program.

“Dr. Mascarenhas asked questions no one had asked before,” says Lesley. “She took the time to understand all of Leonardo’s symptoms.” First, Dr. Mascarenhas had Leonardo tested for blood in his stool; the test came back negative. Then she looked carefully at his diet. Lesley was instructed to track and report on Leonardo’s food intake for three days. The foods were evaluated for nutritional content and considered as possible sources of allergic reactions. Blood tests showed that he was anemic, though he was getting plenty of iron in his diet. Dr. Mascarenhas prescribed an iron supplement.

Soon after that visit, Leonardo became very ill. He came down with pneumonia, then, when he recovered from that, he had hand-foot-and-mouth disease. He had chronic croup and a series of ear infections. He developed skin rashes, including a rash on his face that got so bad that it bled. For four months, he was too sick for the 90-minute drive to CHOP.

Gluten-free could be the answer

When Leonardo next saw Dr. Mascarenhas, she found that his anemia had worsened. She tripled the dose of the iron supplement. The facial rash led her to suspect a food allergy, so she made an appointment for him at CHOP’s Food Reactions Clinic, which looks at food reaction test results as well as environmental, lifestyle and dietary factors to understand food reactions that are difficult to diagnose. She also asked Lesley to try removing dairy from Leonardo’s diet for a week. When that was found to make no difference, she suggested removing gluten.

Going gluten-free was an easy change for the family: Leonardo’s older brother, Luca, was already on a gluten-free diet. Gluten caused him diarrhea and skin rashes, and both problems were resolved with dietary changes.

A gluten-free diet has helped Leonardo, too. Now almost 2, he is happier and has more energy for basketball and the many other sports he enjoys. However, it’s too early to tell whether gluten alone is the cause of Leonardo’s health problems. His medical story isn’t finished. But Lesley is reassured by Dr. Mascarenhas’ thorough approach, and she is confident that the medical team at CHOP will find an answer.

“Dr. Mascarenhas is an advocate for what we believe in: not just medicating but healing,” says Lesley. “She wants to know everything. She asks us how Leonardo sleeps, and about all of his illnesses. She has never rushed us. She takes the time to listen to the whole story, and it’s not a simple one.”

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