What is Hirschsprung's disease?
Hirschsprung's (HURSH-sprungz) disease, or HD, is a disease of the large intestine.*
The large intestine is also sometimes called the colon. The word bowel can refer to the large and small intestines. HD usually occurs in children. It causes constipation, which means that bowel movements are difficult. Some children with HD can't have bowel movements at all. The stool creates a blockage in the intestine.
Sometimes Hirschsprungs shows up later in life in young adulthood, or late teens.
If HD is not treated, stool can fill up the large intestine. This can cause serious problems like infection, bursting of the colon, and even death.
Most parents feel frightened when they learn that their child has a serious disease. This booklet will help you understand HD and how you and the doctor can help your child.
Why does HD cause constipation?
Normally, muscles in the intestine push stool to the anus, where stool leaves the body. Special nerve cells in the intestine, called ganglion cells, make the muscles push. A person with HD does not have these nerve cells in the last part of the large intestine.
Healthy large intestine: Nerve cells are found throughout the intestine. HD large intestine: Nerve cells are missing from the last part of the intestine.
In a person with HD, the healthy muscles of the intestine push the stool until it reaches the part without the nerve cells. At this point, the stool stops moving. New stool then begins to stack up behind it.
Sometimes the ganglion cells are missing from the whole large intestine and even parts of the small intestine before it. When the diseased section reaches to or includes the small intestine, it is called long-segment disease. When the diseased section includes only part of the large intestine, it is called short-segment disease.
What causes HD?
HD develops before a child is born. Normally, nerve cells grow in the baby's intestine soon after the baby begins to grow in the womb. These nerve cells grow down from the top of the intestine all the way to the anus. With HD, the nerve cells stop growing before they reach the end.
No one knows why the nerve cells stop growing. But we do know that it's not the mother's fault. HD isn't caused by anything the mother did while she was pregnant.
Some children with HD have other health problems, such as Down's syndrome and other rare disorders.