How is Hirschsprung's Disease diagnosed? An ERNICA animation for parents and families

This animation aims to provide you with more information about how Hirshprung's disease is diagnosed. Hirshsprung's disease is also known as a ganglionosis of the colon. Babies with Hirshsprung's disease often display symptoms such as vomiting and a swollen belly. You may also notice that they do not pass meconium after birth and subsequent feces or poop. Meconium is a substance that builds up in a baby's bowel when it's still developing in the womb. If a diagnosis of Hirschsprung's disease is suspected, the clinical team can help to remove a buildup of meconium or fecess by using a special tube called a rectal cannula. This is called irrigation. Relief following this irrigation process can be a sign of Hirschsprung's disease. No relief of symptoms following this process could mean that your baby has a particular type of Hirschsprung's disease, called long segment Hirshsprung's disease. Or perhaps another diagnosis. Long segment Hirshsprung's disease occurs when ganglion cells are missing from most of the large intestine. If irrigation does not work sufficiently, surgery is needed to create an opening in the body for meconium or feces to pass through. This opening is known as a stoma. A diagnosis of Hirschsprung's disease can be confirmed after birth. Your baby's clinical team can carry out a test called a contrast enema. During this test, a special liquid is passed into a baby's bowel through their anus. Then an X-ray is performed. The liquid helps to show the colon and rectum more clearly on the X-ray. Normally the rectum is wide and the colon smaller and segmented. A baby with Hirschprung's disease will have a smaller rectum and part of the colon will be dilated, which means it is expanded. In order to confirm a diagnosis of Hirschsprung's disease, it is essential that samples of tissue from the child's colon, above the anal canal are taken. This procedure is known as a rectal biopsy. There are two types of rectal biopsy, a rectal suction biopsy and a full thickness biopsy. In a rectal suction biopsy, a medical instrument is inserted into the rectum via the anus. The instrument collects samples of tissue from the rectum. The tissue is studied under a microscope to check for the presence of ganglion cells and thickened nerve fibers. When a suction biopsy does not provide enough tissue or the child is older, a biopsy called a full thickness biopsy may be necessary. This is a procedure where a small strip is removed from the rectal wall for investigation. This procedure is done in an operating room with the child under general anesthetic. It may also be possible for the clinical team to obtain a sample of tissue from the colon during a surgical procedure. This type of biopsy can show the location of ganglion cells covering the bowel wall, because multiple tissue samples from different parts of the bowel can be taken if necessary. The samples of tissue need to be analyzed by a specialized, experienced pathologist. When a diagnosis of Hirschprung's disease is confirmed, and the length of the affected bowel area is known, surgery can be planned. Before surgery, irrigations can help to relieve the bowel. Parents can be trained to perform these at home. In surgery, the affected part of the bowel is removed, and the remaining bowel is connected to the anal canal.