Hirschsprung’s Disease is a birth defect that affects the intestine and bowel of your child. In this congenital condition, nerve cells are missing within the bowel, in certain areas. This absence of nerves prevents the intestines to propel stool through the digestive tract — a process called peristalsis. In normally functioning intestines, peristalsis creates wave-like contractions that keep waste moving through the digestive system to eliminate it from the body. Without the ability to move stool forward, your child will have stool backing up in their abdomen, creating discomfort and constipation. Bacterial infections may result.

Although the condition is present at birth, depending on the severity of the condition, it may be identified within a few days of birth and in mild cases, it may not be detected until later in childhood. The definitive treatment for Hirschsprung’s Disease is the removal of the diseased part of the colon.

Hirschsprung’s Disease is congenital and occurs early in the development of the baby in the mother’s womb. There is scientific evidence that supports the fact that certain genetic conditions can contribute to the disease, but there is no testing for it.

What Are the Symptoms of Hirschsprung’s Disease?

The severity of symptoms will vary based on how much of the colon is affected and how great the effect is. For children who have small areas that are affected, the symptoms may be more subtle and take longer to manifest severe symptoms. Whereas, those children who have large areas of intestine affected, symptoms may be present immediately and be more intense.

In severe cases, the most obvious symptom will be a lack of bowel movement within 48 hours of birth in a newborn or have explosive diarrhea when the anus is assessed for perforation.

Other symptoms of Hirschsprung’s Disease include:

  • A firm, swollen belly
  • Vomiting — may be a green or brown substance
  • Severe gas and constipation
  • Listlessness
  • Failure to thrive
  • Bloody diarrhea

For cases that are not identified at birth, symptoms can include chronic constipation and abdominal discomfort. Many children experience gas, chronic fatigue, unexplained fever, slow growth rate, vomiting, or a distended belly.

How Alaska Pediatric Surgery Can Help

At Alaska Pediatric Surgery, our skilled pediatric surgeons have performed thousands of pediatric surgeries on the children of Alaska. Our skilled surgical team can treat your child’s Hirschsprung’s Disease. Removing or bypassing the diseased portion of the bowel typically results in an ostomy and helps improve the child’s condition immediately.

For more information, visit these online resources:

Rare Disease Information

Kids Health