Hirschsprung’s Disease: Luke's Story

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These days, Luke is a healthy, active 15-year-old. He plays soccer and baseball, plays percussion in his school and church bands, and likes to fish and hunt. He has no memory of the surgery that saved his life when he was a baby.

Luke in a suit standing at home His parents, Chris and Esther, remember that time all too well.

Luke was a big baby — 9 pounds, 8 ounces and 22 inches long at birth. For the first two days in the hospital in Voorhees, NJ, where he was born, he seemed fine. Then, on the morning he was scheduled to go home, his parents were told there was something wrong.

Luke had thrown up, and he wasn’t eating. He also hadn’t had a bowel movement yet. The combination led his doctors to suspect he might have Hirschsprung’s disease — a rare condition in which the ganglion cells that trigger contractions in the colon or lower intestine are missing, causing the movement of food through the digestive system to slow down or stop. Severe cases can be life-threatening.

Luke’s case was worrisome. His doctors decided to transfer him to Children’s Hospital of Philadelphia (CHOP) to confirm the diagnosis and get him the care he needed from a team with experience treating infants with complex diseases like Hirschsprung’s. Each year, more than 50 children with Hirschsprung’s disease are cared for as inpatients at Children’s Hospital.

“It was all such a shock to us,” Chris remembers. “We were about to bring our new baby home, and suddenly we’re being told about a disease we had never heard of. I looked it up on the internet and found a lot of scary information.”

Finding answers for Luke

At CHOP, Chris and Esther met with Holly Hedrick, MD, a pediatric and fetal surgeon, who explained the condition and described the surgery required to correct it. A portion of Luke’s colon would need to be removed, the section without ganglion cells. She had experience performing the surgery and was confident it would work.

“Dr. Hedrick was a blessing to us,” says Esther. “She took the time to explain everything and answer our questions. She was straight with us — this was a serious condition — but she was encouraging and positive.”

When Luke was just 3 weeks old, he underwent his first surgery, which lasted several hours. At Children’s Hospital of Philadelphia, newborns who will require surgery immediately or soon after birth are treated by a unique Neonatal Surgical Team. Made up of a neonatologist, pediatric surgeon, surgical advanced practice nurses, specially trained neonatal surgical nurses and others, the team specializes in performing surgery on the smallest patients. They even transform the N/IICU into an operating room to avoid the risks of moving these medically fragile babies to another room.

During the procedure, the surgical team discovered that Luke had what’s called “total colonic aganglionosis.” This is the medical term for an extreme case of Hirschsprung’s disease in which ganglia are completely absent from the colon — and in Luke’s case, from the lower portion of the ileum (the lower portion of the small intestine that connects with the colon) as well.

The entire affected section of his intestines would need to be removed. It was one of the most severe cases of Hirschsprung’s disease that Dr. Hedrick had ever seen. As part of the procedure, Dr. Hedrick created a small hole in Luke’s abdomen and brought a portion of his ileum up to the level of the skin, allowing stool to come out easily and be collected by a small bag called an ileostomy bag.

After surgery, Luke was sent to the Newborn/Infant Intensive Care Unit (N/IICU) where he could be closely monitored during his recovery.

“The nurses in the N/IICU were wonderful,” says Esther. “They were so gracious and patient. It was a process just to hold him, with all of tubes and wires, but they took the time to carefully shift all of that and lift him into my arms. We couldn’t take him home until we had learned how to change the ileostomy bag, and they spent time teaching us how to do that.”

After Luke’s bowel function stabilized and his family was comfortable with caring for the stoma in the N/IICU, Luke was able to go home. A few months later, Luke returned for another surgery where Dr. Hedrick connected the ileum to just above the anal opening so normal bowel movements could replace the use of the ostomy bag.

A critical time

The first two years after surgery were an especially critical period for Luke. His parents had to take extra care to make sure he didn’t catch the flu or a stomach bug. Without a colon to absorb liquids into the body, a flu could leave Luke severely dehydrated. A sickness that would keep an otherwise healthy child in bed for a couple of days could have been fatal to Luke.

To prevent bringing sickness home, the entire family, including Luke’s older siblings William and Christie, went into a self-imposed quarantine. They didn’t go to church or out to eat. They rarely had friends over and never allowed other children in the house.

The family eventually moved to Florida to keep Luke safe from the viruses that often accompany the harsh Northern winters. Once Luke was about 2 years old and his immune systems was stronger, the family was finally able to let their guard down.

From hospitals to high school

Luke school picture Talking to Luke today, an outsider would never know what he had been through as a baby.

Those two early surgeries were all that was needed to correct Luke’s condition and restore his digestive function. But because an important section of his digestive system was removed, he doesn’t absorb fluid in the same way, and food passes through his system more quickly and leaves with extra fluid and acid.

To counteract that, Luke has to drink extra fluids to stay hydrated, so you’ll always find him with a water bottle by his side.

“I’m different, but I look the same as any other kid,” he says. Now a sophomore in high school, Luke knows how to take care of himself, and does it well. He has good friends and recently attended his second homecoming dance.

“CHOP will always be very near and dear to us,” says Chris. “They saved my son’s life.”

Surgery Patient with Childlife Specialist

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CHOP’s Pediatric Colorectal Program provides comprehensive treatment for children with long-term bowel management needs.