Hudson seemed like any other healthy newborn. He was excited to eat, made lots of dirty diapers, and slept a lot. But seven days after birth, when his parents, Kristen and Jason, switched his formula, Hudson suddenly stopped pooping. His belly became hard and round like a bowling ball and was so swollen that his skin had red stretch marks.

The pediatrician near their home in Gilbertsville, PA, about an hour west of Philadelphia, sent him for an X-ray of his stomach and initially thought it was just gas that would pass once Hudson had a bowel movement. But when Hudson threw up bile the next day, his parents and the pediatrician became concerned.

Confirming the diagnosis of Hirschsprung’s disease

The pediatrician suspected Hudson had a rare and very severe condition called Hirschsprung’s disease and recommended the family take Hudson to an emergency room immediately. Children with Hirschsprung’s disease lack ganglion cells in their digestive tract, which are necessary to trigger muscles to squeeze and relax to move digested food through the intestines. Left untreated, the condition can be life-threatening.

The family drove directly to Children’s Hospital of Philadelphia (CHOP). As they made the trip, the pediatrician called ahead to CHOP’s Emergency Department (ED) to inform physicians there of the suspected diagnosis.

“Hirschsprung’s is so rare that a lot of doctors don’t know it,” says Kristen. “We were really blessed that our pediatrician noticed the signs and called ahead.”

At CHOP, Surgeon Holly L. Hedrick, MD, took control of Hudson’s care and evaluation. Hudson was admitted to the hospital and underwent a number of tests including an abdominal X-ray, contrast enema, and suction rectal biopsy — all of which confirmed the diagnosis.

Fortunately, only a short segment of Hudson’s intestines were affected by the disease. The plan was to give him a colostomy (a surgically created opening in his bowel), which would allow him to poop into a small bag. Once his swollen intestines healed, Dr. Hedrick would perform a pull-through procedure, an operation in which the abnormal segment of the intestines is removed.

Giving families confidence to care for Hirschsprung’s disease at home 

While CHOP clinicians taught Kristen and Jason how to care for the colostomy at home, Child Life specialists helped educate their 4-year-old daughter, Ryleigh, about the colostomy in an age-appropriate way.

“Child Life was fantastic,” says Kristen. “After Hudson’s surgery, we weren’t sure how to explain the colostomy bag to our daughter. Child Life came and taught her about it using a special doll that had an ostomy. They taught her how to be a great big sister to Hudson.”

The family returned to CHOP when Hudson was 5 months old for his pull-through procedure. Two months later, Dr. Hedrick reversed the colostomy, closing the opening in Hudson’s bowel and abdomen.

Since then, Hudson has been doing well overall. He had to be hospitalized a few times when he spiked a fever to monitor for signs of enterocolitis, a life-threatening condition that can occur in children who have had a pull-through procedure. But fortunately, he never got it.

He has been taking stool softeners to prevent constipation, which makes his stool very watery. This wasn’t an issue when he was in diapers, but now that he’s 4, his parents are working with Dr. Hedrick and Myron Allukian, III, MD, attending pediatric surgeon, on bowel management strategies.