Hirschsprungs Family Connections

What is Hirschsprungs Disease (HD)?

HD is a rare condition which affects the nerve cells (known as ganglion cells) of the bowel. The ganglion cells control the muscles of the bowel, and these muscles push along the bowel contents.

There is no known cause for HD, although it can run in families. It occurs in 1 in 5000 babies and is more common in boys than girls.

In HD the ganglion cells are missing from the bowel so the contents are pushed along until they reach the affected part of bowel where the content slows and a blockage occurs.

HD affects the rectum and a variable length of the large bowel above it. This length is usually only a short segment of bowel but sometimes may affect the entire large intestine (colon).

Many babies with HD present at around three days of age having never had their bowels open. They may be reluctant to feed and may vomit a green fluid called bile which would normally pass through the bowel. However, some children are not diagnosed with HD until much later having passed meconium at birth. For these children and their families it is a battle to get a diagnosis.

Although surgery, known as a 'pull through' procedure, removes the part of the bowel affected by HD it is not a cure and many children with HD suffer with long term problems that can require medication, treatments and further surgery to help with these problems. These children can also develop a very serious infection called Enterocolitis.

Enterocolitis is an infection of the large bowel and is a potentially very serious complication of HD. It is treated with antibiotics (given through a drip into a vein) and regular bowel washouts. Some babies / children who develop enterocolitis may need to have a stoma formed.