Just before his first birthday, Matthew came down with a high fever and became very lethargic. Laurie, his mother, took him to the pediatrician, who couldn’t figure out what was causing the problem. The fever would spike every afternoon, then come down again at night and through the morning. And the cycle didn’t go away.
A mystery illness
Laurie kept taking Matthew to the pediatrician as this went on, and then to a long string of specialists — a cardiologist, an oncologist and even an ophthalmologist. Over several months, he was seen by eight different specialists. Matthew stopped gaining weight. He didn’t grow, and he started missing the normal developmental milestones. He was clearly a very sick child, but the doctors who examined him couldn’t figure out what was wrong.
A gastroenterologist told the family that he thought it was celiac disease, a condition in which the body’s immune system reacts against gluten, but that it might be Crohn’s disease, which is a chronic form of inflammatory bowel disease (IBD). Laurie was very familiar with Crohn’s — she has it herself. But in her case, the symptoms began when she was a young adult, and she knew it was unusual for a toddler to have the disease.
The doctor suggested they go to Children’s Hospital of Philadelphia (CHOP). It was a bit far from their home in Long Island, NY, but he told them that the specialists at CHOP would know if it was Crohn’s, and, more important, would know how to treat Matthew.
Laurie and her husband, Brett, contacted CHOP’s Division of Gastroenterology, Hepatology and Nutrition (GI) and made an appointment to see Judith Kelsen, MD, Director of the Very Early Onset Inflammatory Bowel Disease (VEO-IBD) Program. In November 2014, five months after Matthew’s fever had begun, the family walked through the doors at CHOP and met with a doctor whose specialty is treating young children and infants with IBD.
Infants and children who have IBD from a very young age often experience different symptoms than older children and adults with the disease. They also typically do not respond to traditional treatments. These patients have what’s known as very early onset IBD (VEO-IBD), which requires specialized evaluation and targeted treatments.
A colonoscopy, endoscopy and other tests confirmed the diagnosis of Crohn’s disease. Dr. Kelsen also arranged for appointments with allergy and nutrition specialists at CHOP. And Matthew began the longer-term process of genetic testing under Dr. Kelsen’s care.
Matthew’s case was unusual in that the inflammation was in the duodenum (the uppermost section of the small intestine), rather than in the ileum (the lower section) or the colon, where Crohn’s usually appears. The biopsies and laboratory tests confirmed that he did not have celiac disease, but additional testing showed that he did have an allergy to dairy foods.
Dr. Kelsen prescribed medicine and the family worked with the nutrition and allergy groups to come up with a substitute for the dairy-based formula that had been Matthew’s main source of nutrition.
The medication relieved some of Matthew’s discomfort. He became happier, but he still wasn’t eating. As the months went by, his weight remained stuck at 22 pounds, and Dr. Kelsen considered other treatment options.
A nutrition breakthrough
Dr. Kelsen’s next recommendation was a nasogastric (NG) feeding tube, which would allow greater control over Matthew’s nutrient intake. Laurie and Brett went to a three-hour class at CHOP to learn how manage Matthew’s feeding with the NG tube — how to put it in, fill the bag with formula, connect and disconnect the bag and replace the tube.
With the NG tube in place, Matthew started to improve. It wasn’t an overnight change, but gradually, over a period of weeks, he started to gain weight. And he started eating more. Where he had nibbled on cereal or pasta before, eating only tiny amounts, now he was hungry for bigger portions. In the 11 months after the NG was put in, he gained 10 pounds and grew 7 inches.
“It was an amazing improvement. He was thriving. He was happy. And the tube didn't bother him. He never touched it, never tried to pull it off. He called it 'Mr. Tuby'— a name we gave it to make it feel like a positive thing. ”
Eventually, Matthew was eating enough that his nutrition intake was at normal levels and the NG tube was removed.
Matthew now eats like a normal 3-year-old. He’s not crazy about fruits or vegetables, but he eats almost anything else with enthusiasm. “He eats nonstop now,” says Laurie. Matthew is in the 85th percentile for his age on the weight curve. He’s also now in the 23rd percentile for his height — he was off the bottom of the chart for height when he was 2.
Today, Matthew continues on dietary therapy and avoids dairy due to his allergy. His parents still bring him to see Dr. Kelsen every few months to ensure that he’s progressing normally. Between those visits, Matthew is seen by a gastroenterologist on Long Island who did his GI fellowship at CHOP and knows Dr. Kelsen well. They are able to coordinate his care together and even call one another during appointments with Matthew to share observations.
With some tough months behind them and Matthew doing well, Laurie and Brett can look back and appreciate the care Matthew received. “It was a relief to be able to put our confidence in a doctor who specializes in early onset Crohn’s,” says Laurie. “Dr. Kelsen has been wonderful. I was emailing her all the time at first, and she worked with me. She always responded. She took the time to answer all our questions. CHOP is a fabulous place. You know you’re in good hands there."