Hirschsprung's Disease is a congenital condition which can cause extreme constipation, pain, and fatal intestinal blockage. Anemia, bloody stools and diarrhea may also be noted with the condition. Surgery, though intensive, can treat the causes and most children with Hirschsprung's Disease lead normal lives after surgery.
Hirschsprung's Disease manifests as a lack of appropriate nerve cells in the large intestine or colon. When the body cannot sense that the colon is full with waste products, the intestine can back up. In infants this may be seen as infrequency of bowel movements, which may be accompanied by painful spasms. Because of larger bowel movements, the sensitive skin around the anus can tear, causing blood in the stool. Blood may also pool in the large intestine.
Hirschsprung's Disease is often difficult to diagnose in infants who are formula fed. Sensitivities to ingredients in formula often result in constipation and painful stomachs. Often several formulas must be tried before finding one that is readily digestible. Formula, though used by many parents, cannot replicate the ease of digestibility associated with human breast milk.
Children with Hirschsprung's Disease who are exclusively breastfed are likely to receive earlier diagnosis because theoretically, nothing should interfere with the infant’s digestion and passage of bowel movements while on breast milk. In breastfed babies, bowel movements are usually quite soft and may occur several times daily. Lack of bowel movements should be noted to the pediatrician as this may also signify fail to thrive, or other intestinal disorders.
In some cases, even with breastfed children, a diagnosis of Hirschsprung's Disease is delayed because the breast milk can be affected by the mother eating certain foods to which the infant might be sensitive. In these cases, the presence of constipation in an infant may first be relieved by removing foods from the mother’s diet that might result in allergies in the infant. Foods like milk, chocolate, and coffee can all be suspect.
When allergenic foods are removed and constipation is still present, pediatricians may refer the infant to a pediatric gastroenterologist for further testing. The most common testing methods employed are barium x-ray and cell biopsy. Cell biopsy, though more invasive, is the gold standard test because the physician can note the absence of nerve cells and confirm Hirschsprung's Disease.
The normal treatment for a person with Hirschsprung's Disease is called a pull through surgery. The non-functioning part of the intestine is removed and the areas of the intestine with normal cells are rejoined. This results in a healthy intestinal tract and has a high rate of success.
Occasionally, children have developed significant infection in their large intestine prior to the pull through surgery and must undergo an ostomy. In this procedure, the infected portion of the intestine is first removed, and fecal matter collects in a bag outside the body. This procedure is usually temporary, and when the child regains health and strength, he or she will undergo the pull through.
Children who have not had an early diagnosis of Hirschsprung's Disease are at greater risk for life-threatening infections. They also may exhibit poor growth and development, and may vomit bile more frequently than healthy children. Symptoms of infection can include increased vomiting, diarrhea and high fever. If Hirschsprung’s Disease is suspected, such symptoms require immediate medical attention.
