Hirschsprung’s disease is an intestinal disorder that often requires surgery and long-term coordinated care to manage abnormal bowel function. This video explains how the Pediatric Colorectal Program (formerly called the Pediatric Anorectal Continence Evaluation, or PACE Program) at Children's Hospital of Philadelphia works with families to establish a successful bowel management program in the years following surgery for Hirschsprung’s disease so that a child can lead a normal, healthy life.
Hirschsprung’s Disease: A Team Approach to Surgery and Care
Edward Doolin, MD: A toddler who does not have normal function for his bowels or bladder has a severe handicap because it's interfering with most of his life's goals. Restoring a way for them to not have their life interfered by their disability removes their handicap.
If the bowel is left to its own devices, it will squeeze and never relax. The ganglion cell creates the stimulus that makes the bowel relax. Children with Hirschsprung’s disease, their bowels tighten up so they can't have a bowel movement.
Karen Barnaby, RN, MSN, CRNP: The cause is the absence of those specialized ganglion cells. Parents might observe their baby's belly's to become swollen, either very few or no poop at all. They might notice a lot of vomiting and inability to tolerate any kind of feeding, weight loss, and they might have made several trips to the pediatrician with formula changes and various ways of trying to deal with this and nothing else is working.
Nancy, Jarrid's mom: He was born and he refused to feed, and then that night he started throwing up green bile and his stomach was swollen so they transferred him to the NICU.
Jarrid was sick from the day he was born and was not correctly diagnosed with Hirschsprung’s disease until he was 3.
Edward Doolin, MD: The diagnosis of Hirschsprung’s disease can actually be very complicated. Some biopsies are done at a level where they erroneously miss Hirschsprung’s disease.
Nancy, Jarrid's mom: We got the diagnosis of failure to thrive, poop withholding, poor eater, poor weight gain and reflux, that was a big one. They kept telling me that he just had GERD. Finally, I happened upon Children's Hospital.
Edward Doolin, MD: PACE is Pediatric Anorectal Continence Evaluation Program. It's a program to study and help children who have dysfunction with their bowel movements.
Gina Kroeplin, MS, CRNP: The PACE program sees a variety of conditions that specifically focus on patients’ bowel management habits. That can be Hirschsprung’s disease, the imperforate anus, cloacas, functional constipation, motility disorder. From the start, you develop this relationship with the families where you get to know the child, and you're constantly working with them on the well-being of the child and giving them the anticipatory guidance for what is to lie ahead with the several surgeries that they're going to need down the line.
Edward Doolin, MD: Pull-through procedure is the ultimate corrective operation for Hirschsprung’s disease. The diseased bowel is either removed or bypassed and normal colon is put in its place.
Karen Barnaby, RN, MSN, CRNP: You bring the part of the intestine that has the cells down to a very short segment of intestine right at the anus, and you sew the two ends together so the baby can poop to the outside world.
Edward Doolin, MD: After a child has a pull-through procedure for Hirschsprung’s disease, the first few months there's very close follow-up. Children who’ve had a pull-through procedure are at risk for some infectious complications called Hirschsprung’s-related enterocolitis. They're also at risk for complications of bloating and something called an anastomotic leak. These are rare, but they require close follow-up.
Once a child recovered after a couple of months, then we do frequent follow-ups so that we can monitor their patterns of bowel movements and eating and make sure they thrive.
Jarrid: I was 4 and a half when I got my pull-through.
Nancy, Jarrid's mom: So after Jarrid's pull-through, he improved tremendously. I … we've noticed right away that he was eating more, he was keeping it down, his energy level was up, he was no longer napping. He could finally play with the other kids on the playground and have the energy level that they were having.
Edward Doolin, MD: Well, after two months, there's really no risk of a surgical complication, but the medical vitality of the children really has to be monitored because they still have an abnormal setup.
Gina Kroeplin, MS, CRNP: It's not something that you have surgery and then you're done and then we don't see them again. It's a very close balance because even after they're corrected and we have the regimen that's working well for them, they can hit these struggles and then they may need diagnostics down the line.
Nancy, Jarrid's mom: The doctor needs to be dedicated, you need to be dedicated, you all need to be consistent and on the same page.
Karen Barnaby, RN, MSN, CRNP: The surgery's only the beginning of a very long journey, and I'm glad that we have a program that's willing to spend the time with these families that it takes.
Nancy, Jarrid's mom: So every other day we do the ACE, antegrade, meaning from the top. So you're irrigating him that way. So from the top down instead of a regular enema where you're going from the bottom and then he goes to the bathroom, you're irrigating him from the top, but he still has a bowel movement through his bottom. And we do that every other day, and it helps him to stay clean and empty and healthy.
Karen Barnaby, RN, MSN, CRNP: They know that they can call us no matter what time of day or night it is. There's always either one of the nurse practitioners or surgeon that can answer their phone calls. And that we are always there for them no matter what.
Edward Doolin, MD: We also support these children so they get the appropriate accommodation in school, such as easy access to a bathroom, early dismissal and medications being given. All this requires a community — a community of our program, a community of the family, a community of the pediatrician, and the community of the school.
Karen Barnaby, RN, MSN, CRNP: The families that come to our clinic and follow through with our recommendations find that their children are much more successful in school and social settings such as sports.
Jarrid: I could now like run, and I can play with my friends, and I can play football now, and I don't like have to stay home sick and stuff like that.
Edward Doolin, MD: Jarrid felt better once he was treated. His personality changed from before to after. His outlook on life changed. The family dynamic changed. The other kids and Jarrid became more communal. Everything settled into a good lifestyle despite his disease.
Karen Barnaby, RN, MSN, CRNP: For the clinician to see a child going from being a sickly little person to thriving, happy, successful is immensely satisfying because you know you've made a huge difference in their quality of life.
Topics Covered: Hirschsprung's Disease
Related Centers and Programs: Pediatric Colorectal Program, Division of Pediatric General, Thoracic and Fetal Surgery