One Gutsy KidA family’s determination to save their infant son led them to the nation’s top experts in inflammatory bowel disease at CHOP.

Recently, Eric Lichtenstein and Laura Schutzel told their 4-year-old son, Jacob, that when he was a baby, he was very sick. His response was quick and confident: “No I wasn’t! I wasn’t sick!”

That was music to his parents’ ears. Because, in fact, Jacob’s first two years had been a constant, exhausting battle to keep him hydrated and nourished as a brutal disease ravaged his small body: very early onset inflammatory bowel disease (VEO-IBD), a form of the disease that occurs before the age of 5. 

The first symptom, blood in his stool, appeared at just 4 months of age. Jacob’s pediatricians weren’t concerned — perhaps a milk allergy, they thought. But as time went by, there were eight, ten, twelve grim diapers a day. Jacob developed chronic fevers and began to reject both breastfeeding and bottles, often vomiting what little his parents could coax him to accept. He fell off the growth chart and several times had to be hospitalized for dehydration and malnutrition.

“Honestly, there were times we thought he just was not meant for this world,” says Schutzel.
      
Visits with a series of medical specialists in New York, where the family lives, led to the diagnosis of VEO-IBD, but despite high doses of steroids, no one was able to get Jacob well.

“When you live in New York City, there’s a certain chauvinism that the city has the best of everything — of course it will have the experts that we need,” says Lichtenstein. “But when it comes to pediatric care, there’s a tremendous dearth of specialists in pediatric GI.”
      
Recommendations led them to The Children’s Hospital of Philadelphia and David Piccoli, M.D., a physician in the Center for Pediatric Inflammatory Bowel Disease, the Fred and Suzanne Biesecker Endowed Chair in Pediatric Liver Disease, and chief of the Division of Gastroenterology, Hepatology and Nutrition.

“Unfortunately, his case is typical,” says Piccoli, “in that children with very early onset disease often have severe symptoms and don’t respond to the therapies that work in older children and adults.”

Like many patients in the IBD Center, Jacob is participating in several research studies, including one on VEO-IBD that is shedding new light on his disease and the ways it is immunologically different from later-onset IBD.

After a two-hour consultation with Piccoli, Jacob’s parents knew they were in the right place. Piccoli made adjustments to Jacob’s treatment, and he and his team kept in close contact with the family. When Jacob’s condition deteriorated, Lichtenstein and Schutzel drove directly to CHOP, where Jacob stayed for nine days.

Schutzel felt like she could finally exhale. Keeping Jacob alive had been the focus of her life for 18 months. Now she could entrust him to the experts and relax.

At CHOP, Jacob was nourished and hydrated back to health, and his fussiness gave way to smiles. Repeatedly, his parents held Jacob only to find themselves soaked in his urine. They were thrilled — finally, he was hydrated! The nurses taught the family how to insert a nasogastric tube at home, setting them up with all the products and services they would need. “CHOP knew the right way to do everything,” says Lichtenstein. “We hadn’t found that before.”

Unfortunately, once home, Jacob’s medication and tube feeds weren’t enough to defeat the disease. He needed surgery for an ileostomy, which diverts food from his small intestine into a bag outside his body, allowing his colon to rest. Within 24 hours, the transformation was under way: Jacob saw his father eating a chocolate cookie and wanted one too. It was his first bite of food ever. Schutzel was so overjoyed by Jacob’s interest that she immediately bought six more boxes of cookies.

While it took effort from his parents and therapists to work on skills like eating that he had missed, Jacob soon became a normal kid. He’s back on the growth curve and no longer needs medication for his IBD. The ileostomy may someday be reversed, but for now, wearing the bag is normal to him.
      
Jacob has turned into a brave, forward, personable kid. Strangers are just friends he hasn’t met yet. His signature line: “Hi, my name is Jacob! Do you want to come over to my house? I have a lot of toys.”

He is tenacious and strong-willed, and his parents wonder if those early years shaped his personality. “He needed to fight more than most little kids,” says Lichtenstein. “He toughed it out.”

— Julie Sloane