Treatment in this situation should be carried out as recommended by a qualified surgeon. Dr. Geeta Kekre is a well-qualified and experienced pediatric surgeon in Pune. Very rarely, Hirschsprung’s Disease may not be apparent until adolescence or adulthood, although the defect has been present since birth.

Scientists are not yet sure what the precise cause of Hirschsprung’s disease is. Many genes have been found to play a role. As of today, it is not possible to diagnose the condition while the baby is still in the womb. If you have a child with Hirschsprung’s disease, there is a possibility that his or her siblings to come may also have it.

To make a diagnosis of Hirschsprung’s disease, a pediatric surgeon uses a number of tests. A plain x-ray can provide valuable information about a child whose bowel is completely choked. The surgeon may also do a special type of x-ray in which he or she instills a dye through the child’s anus. This type of x-ray will show the surgeon the shape of the intestine, which can be characteristic of Hirschsprung. A biopsy from the rectum will clinch the diagnosis in most cases. A small bit of tissue is taken from the rectum and examined under the microscope for the presence of ganglion cells. If there are no ganglion cells, Hirschsprung’s Disease is confirmed. The biopsy may be taken by performing surgery through the anus, or it may be taken using a suction biopsy device. The specimens obtained by each method are processed differently in the lab, so the choice of method depends on the available facilities. Finally, especially in older children, the surgeon might need to perform an anorectal manometry which is a test that measures the pressure and muscle activity in the anus and rectum when a child tries to pass stool.

The treatment of Hirschsprung’s disease is surgery. There are different operations that can be performed for Hirschsprung disease, and each surgeon may have his or her own preference. In all the operations the basic principle remains the same. The portion of the bowel that lacks ganglion cells is removed, and the normal healthy bowel is brought down to the anal canal to form a new rectum. These pull-through procedures can be performed by minimal access methods as well. (Click here to watch a laparoscopic Duhamel pull-through for Hirschsprung’s disease.) During the surgery, the surgeon will take multiple biopsies from the bowel and have the pathologist quickly examine them for Ganglion cells. That segment of the Bowel whose biopsy is found to have ganglion cells is then “pulled through” and used to create a new rectum.

In children whose bowel is severely choked, the surgeon may decide to create a colostomy before performing a definitive operation. The colostomy allows the body to expel all the backed-up stool. It allows the intestine to recover so that the child’s nutrition and health improve. The definitive surgery can then be delayed till the child gains some weight and builds some reserve. The colostomy may be closed at the time of the definitive procedure, or at a separate surgery later.

Constipation does not necessarily resolve immediately after corrective surgery. Many children continue to require rectal irrigations or enemas for a few months to a year after surgery. However, this constipation gradually resolves and the child learns to stool normally. Other children may initially show signs of incontinence and may require additional tests or therapy. Toilet training may be delayed in these children. However, most children with Hirschsprung’s disease ultimately develop regular bowel habits and good continence, enjoying a good quality of life.