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

This animation aims to provide you with more information about Hirschprung's disease. This disease is also known as a ganglionosis of the colon. When you eat, food enters and passes through your stomach into the small intestine. The small intestine absorbs nutrients from the food into the blood. The food then leaves the small intestine and enters the large intestine. The large intestine is made up of an area called the colon and an area called the rectum. The colon absorbs fluid from the passing food. The food that remains is called fecess or poop. The feces are stored in the rectum and passed out the body through the anus. The small and large intestine together is known as the bowel. For this process to run sufficiently, the bowel must move in a certain way. This type of movement, called peristalsis, is needed in order to move food through the bowel. For peristalsis to take place, the wall of the bowel must contain nerve cells called ganglion cells. These ganglion cells cover the full length of the bowel and form during a baby's development before birth. Some babies are born with a bowel wall that is not entirely covered by ganglion cells. This makes its movement, peristalsis, difficult. This is called Hirschsprung's disease and is classed as a rare birth defect. The cause of Hirschsprung's disease is unknown, but it can be associated with a syndrome, such as Down syndrome, or with certain genetic defects involving a gene called the Rhett gene. In Hirshprung's disease, the absence of ganglion cells always starts at the rectum end of the bowel. Most of the time, ganglion cells are missing from the end of the colon. Ganglion cells can be missing from more of the colon or the small intestine, but this happens less often. Due to difficulties with bowel movement, your baby may not pass meconium or this may be delayed. Meconium is a substance that builds up in a baby's bowel when it is still developing in the womb. Your baby may also experience some unpleasant symptoms, such as vomiting, a swollen belly, and a buildup of feces in the body. Sometimes babies don't show symptoms straight away after birth. Symptoms can present later on. For example, when the baby starts to eat solid food. The feces that have built up in the colon can be removed through a special tube called a rectal cannula. This is called irrigation. If this process is not sufficient to relieve the bowel or other complications arise, it may be necessary to create an opening in the body for feces to pass through. This opening is known as a stoma. A diagnosis of Hirschsprung's disease is confirmed after birth, by taking a sample of tissue from your baby's rectum through the anus. This procedure is known as a rectal biopsy. When 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, which helps to bring back bowel movement. If the child has had a stoma, this can also be surgically closed. Your baby should be treated at a specialist center by a dedicated team of different professionals who have knowledge and experience of looking after babies with Hirsprung's disease. Although surgery can help to relieve symptoms, your developing baby may experience ongoing difficulties that require different types and levels of care. Difficulties may include constipation, which is when it is difficult to pass fecess, and a lack of control over bowel movements. Sometimes support with bowel management is necessary. Structured regular follow-up care by a team of different clinical specialists is essential for babies with Hirsprung's disease, ideally by a multidisciplinary team, or MDT. Identifying any complications or difficulties early is very important. Even if your child has symptoms after corrective surgery, these can improve as they grow older. Peer support can be accessed through patient and family support groups.