Chromosomal and Genetic Conditions

Hirschsprung Disease

What Is Hirschsprung Disease?

Hirschsprung disease is a problem in the intestines that keeps stool (feces) from moving forward.

Healthy intestines squeeze with a wave-like motion to move stool along the digestive tract. Special nerve cells (ganglion cells) help the intestines make this motion. In children with Hirschsprung disease, these nerve cells are missing. Most often, ganglion cells are missing from the end of the large intestine (colon) or the rectum, where stool collects before leaving the body through the anus. In very rare cases, ganglion cells may be missing from part of the small intestine too.

Where ganglion cells are missing, the intestine squeezes shut, and stool stops moving. Your child can have ongoing constipation, or their intestines can get blocked completely (obstructed).

Hirschsprung disease increases your child’s risk for an infection in the colon called enterocolitis. The infection can be very serious. Enterocolitis can be treated, but it can threaten your child’s life if it is not treated the right way.

Hirschsprung Disease at Seattle Children’s

Because Hirschsprung disease is rare, most doctors see only one child with this condition in their lifetime. Seattle Children’s treats many children with Hirschsprung disease each year. We see patients from newborns to young adults and can provide all aspects of your child’s care. We also provide second opinions.

The experts you need are here

Care for Hirschsprung disease requires expertise to diagnose the condition, perform delicate surgery and keep your child healthy for life. Seattle Children’s has this expertise.

Your child will receive care from an expert on our Reconstructive Pelvic Medicine (RPM) team. RPM brings together providers from many areas of healthcare to treat your whole child. Most children start by seeing a surgeon who is experienced with repairing the intestines so stool can pass. Based on your child’s needs, the surgeon will involve other specialists, like a gastroenterologist or urologist.

Each child’s case is unique. Team members partner closely with each other and with you to develop the best treatment plan for your child. The team includes an expert from our Motility Program as well as Dr. Raj Kapur, who is a world leader in research on Hirschsprung disease. Seattle Children’s is also part of the Hirschsprung Disease Research Collaborative.

We treat newborns and older children

At Seattle Children’s, we see patients from birth through young adulthood. Many of our patients with Hirschsprung first come to us as newborns. Often, they are referred from their birth center because they have Hirschsprung symptoms. Sometimes, they are brought to our Level IV Neonatal Intensive Care Unit (NICU) because their intestine is blocked. Seattle Children’s had the first Level IV NICU in Washington.

We also see babies and children at any age who:

  • Haven’t been diagnosed but have symptoms that aren’t getting better with care from their regular doctor (pediatrician)
  • Have been diagnosed with Hirschsprung and need surgery
  • Had Hirschsprung surgery somewhere else and have moved to the Northwest, want to change doctors or want a second opinion about the best treatment for them

Your child gets long-term care and support

Surgery may improve your child’s bowel movements or even make their bowel movements normal. But it doesn’t cure Hirschsprung disease, and most children will have some bowel problems off and on. Seattle Children’s provides follow-up care to monitor your child’s health, prevent problems, manage symptoms and give your child the best quality of life.

For children with Hirschsprung, issues like constipation are not treated the same as for children without this condition. This is why it’s important to get long-term care from a team of experts dedicated to giving your child the best possible care.

We understand how a child might feel about dealing with Hirschsprung disease or related problems, and we are careful to take your child’s feelings into account.

For support, you have access to social workers, child life specialists and many others. The RPM Clinic offers a one-week Bowel Management Treatment Program for children who are old enough for toilet training and have trouble with bowel control after surgery.

Hirschsprung Disease in Children

This disease is congenital, which means a child is born with it. Certain forms of the disease can be passed from parent to child in the genes. But it’s not common for more than one family member to have it.

The condition affects about one in 5,000 children. In about half of these children, doctors diagnose the condition soon after birth. Most other children with Hirschsrpung disease are diagnosed by the time they are 1 year old. Rarely, the condition is diagnosed later.