Helping Hirschsprung’s Disease
Your son is six days old and he hasn’t made a bowel movement. The doctor has said that he will probably have to have surgery. He has Hirschsprung’s disease.
Hirschsprung’s disease is a condition of the large intestine. It causes difficulty with passing stool because of missing nerve cells in the intestinal muscles. It is present from birth (congenital) and has no known cause.
Hirschsprung’s disease can range from mild to severe. In mild cases, babies often have minimal symptoms and may not be diagnosed until early childhood. Severe cases may lead to bowel obstruction, necessitating emergency surgery. Most cases fall into the moderate category, which usually causes constipation or difficulty absorbing nutrients. The disease is more common in boys and sometimes is associated with other congenital disorders such as Down syndrome.
Symptoms can appear immediately after birth or may take several months or years to appear. In infants, symptoms include diarrhea, constipation, gas, failure to have a bowel movement after the first or second day of life or vomiting (especially vomiting green bile). Older children may experience infections of the colon such as enterocolitis (inflammation of the small intestine and colon), inability to gain weight, abdominal swelling and problems absorbing nutrients, which leads to weight loss, delayed/slowed growth and diarrhea.
Hirschsprung’s disease develops while the baby is still in the womb. At some point during the development of the colon, the nerve bundles that line it fail to form. This can occur throughout the entire large intestine or just a few centimeters up from the rectum. The longer the affected area, the worse the symptoms tend to be. It is not caused by anything the expectant mother has done or not done.
If you have one child with the disorder, there’s a greater risk of another child being born with Hirschsprung’s disease (because it is inherited, even if the parents do not have the disorder), and especially if that child has Down syndrome or is male.
According to the Cleveland Clinic, there are two types of Hirschsprung’s disease:
§ Short-segment: This is the most common type. It affects mostly males. Nerve cells don’t form in the last segment of the large intestine.
§ Long-segment: This type affects males and females equally. This occurs when nerve cells are missing from the large intestine.
Rarely, nerve cells don’t form in the large intestine and part of the small intestine. This condition is called total colonic aganglionosis. A minority of children have no nerve cells in the intestines at all. This condition is called total intestinal aganglionosis.
The majority of children are diagnosed within their first year of life. Your healthcare provider will check for a swollen abdomen and perform a rectal exam to check for stool buildup (impaction).
Your provider may also perform a rectal biopsy, abdominal X-ray, anorectal manometry and a barium enema X-ray.
An X-ray may help identify the presence of any retained stool and can be used to check for abnormalities of the lower spine, pelvis and anal areas. In certain circumstances, a barium enema, which is also an effective diagnostic tool in determining stool blockage, may be required.
Once the physician determines the cause of the problem, effective treatment may be established to help the child. The only treatment is surgical removal of the affected area of colon. Treating encopresis (involuntary passage of feces) may involve a combination of any of the following: enemas, suppositories, laxatives, multivitamin supplements, a high-fiber diet, regular bathroom visits and preventive counseling.
Follow-up visits to your doctor are important, because once this condition has been treated successfully, the goal is to withdraw the child from any medication he has been taking.
