Hirschsprung Disease

When a baby is developing before birth, sometimes the nerve cells stop growing toward the end of the bowel. Doctors do not know why this happens.

It is rare for more than 1 family member to have it, but some forms of the disease can be passed from parent to child through the genes (inherited).

Children with Hirschsprung disease need a team with the skills to diagnose the condition, perform complex surgery and provide follow-up care to keep them healthy for life. Seattle Children’s has this expertise.

• Our Reconstructive Pelvic Medicine (RPM) team brings together providers from many specialties to treat your whole child. Team members work closely with each other and with you to create the best care plan for your child.
• The RPM team includes Dr. Raj Kapur, a world leader in research on Hirschsprung disease. Seattle Children’s is part of the Hirschsprung Disease Research Collaborative. The group works to understand the genes that cause this disease and create personalized ways to treat it.
• Our surgeons who treat children with Hirschsprung have extra training in bowel disorders and are experienced in repairing the bowel. Children differ from adults in how they react to illness, medicine, pain and surgery. That’s why our surgeons are all board certified in pediatric surgery.
• We have all the experts you need. Besides a surgeon, your child’s team may include experts in newborn care (neonatology), the digestive system (gastroenterology) and nutrition. Our nurses and nurse practitioners will work closely with you and the rest of the team to meet your child’s needs.

Many children we treat come to us as newborns. Often, their birth center refers them because they have Hirschsprung symptoms. Sometimes, babies come because their bowel is blocked.

• Our transport team is very experienced in safely moving fragile babies.
• We have the state’s first Level IV Neonatal Intensive Care Unit (NICU), the highest level of care.

We also see babies and children at any age who:

• Have not been diagnosed but have symptoms that are not getting better with care from their regular doctor
• Have been diagnosed with Hirschsprung and need surgery
• Had Hirschsprung surgery somewhere else and want to change doctors
• Want a second opinion about the best treatment for them

• At Seattle Children’s, you have a full team behind you before, during and after surgery. We work together to meet all your child’s health needs.
• We take time to explain your child’s condition and help you fully understand your treatment options.
• These conditions can be uncomfortable and embarrassing for your child and upsetting for you. We partner with you to make sure your child feels safe and understands what is happening. As your child gets older, we include them in decisions about their care.
• Our doctors, nurses, child life specialists and social workers help your family through the challenges of this condition. We connect you to community resources and support groups.
• We work with many children and families from around the Northwest and beyond. We can help with financial counseling, schooling for kids in the family, housing, transportation, interpreter services and spiritual care. Learn about our services for patients and families.

We give follow-up care to keep a watch on your child’s health, prevent problems, manage symptoms and help your child have the best quality of life.

Although surgery may improve your child’s bowel movements or even make their bowel movements normal, it does not cure Hirschsprung disease. Most children will have some bowel problems off and on during their lifetime.

Seattle Children’s has programs focused on problems that some children have after surgery. These include:

• The only pediatric Motility Program in the Pacific Northwest for children who have problems with how food moves through their digestive tract.
• Bowel Management Treatment Program for children who have problems with bowel control. Having a plan to prevent soiling accidents helps children be more active, social, happy and independent.

If your baby has Hirschsprung disease, they may have 1 or more of these symptoms just after birth: 

• No stool passed within the first day or 2 after birth
• Swollen belly (abdomen) from gas
• Vomiting, which may be yellow or greenish

Babies with an infection in the large bowel (enterocolitis) may become very ill. They may be very sleepy or not very active and may have some or all of these symptoms:

• Fever
• Swollen belly
• Watery or bloody diarrhea 

If your baby has been diagnosed with Hirschsprung disease and has any of these symptoms, get medical help right away.

Older babies and children with Hirschsprung disease may have problems with constipation that do not improve much after regular treatments. Soft or loose stool may leak around hard stool that is trapped in the colon, soiling your child’s diaper or underwear. This is called fecal incontinence. It may seem like diarrhea, but it has more to do with being constipated.

In addition, older children may have: 

• Diarrhea
• A lack of red blood cells, called anemia, because blood is lost in their stool
• Slower physical growth and development than usual

If your baby has symptoms of Hirschsprung disease, the doctor will take X-rays to see what the bowel looks like. Your child may need:

• A regular X-ray
• A contrast enema (also called lower GI series) (PDF) (Spanish)

Doctors may need to take a small sample of tissue from the rectum to tell for sure if your child has Hirschsprung disease. This is called a rectal biopsy. They look at the tissue sample under a microscope to see if it has ganglion cells. Read about rectal biopsy (Spanish).

Sometimes doctors also use a test called anorectal manometry. During this test, the doctor inflates a small balloon inside the rectum. This test gives information about how the nerves and muscles work. Read about anorectal manometry (PDF) (Spanish). Our Motility Program provides many types of diagnostic tests.

To treat Hirschsprung disease, surgeons remove the part of the bowel that does not have special nerve cells called ganglion cells. This always includes the rectum, where stool collects before leaving the body. In some children, part of the large bowel (colon) also must be removed. Then the surgeon connects the remaining bowel to your child’s anus. This surgery is called a pull-through. It is often done soon after a baby is born.

There are several ways to do a pull-through. The main ways are called the Swenson, Soave and Duhamel procedures. They differ in how much of the bowel surgeons remove and how surgeons connect the remaining bowel to the anus. There is no evidence that one method is better than the others.

Also, there are different ways for surgeons to reach the bowel:

• Through small “keyhole” cuts in the belly (laparoscopic surgery)
• Through a single larger cut (open surgery)
• Through the anus (transanal pull-through)

Your child’s team will talk with you about what they recommend. You and your child’s surgeon will decide which surgery is right for your child. Your child will get medicine to make them sleep without pain during surgery (general anesthesia).

Many babies have surgery for Hirschsprung disease soon after birth. But some need another operation first if:

• They are very ill with an infection in the bowel (enterocolitis)
• The bowel is very stretched out from being blocked

This operation is called an ostomy. It helps the bowel rest and heal. Surgeons make a small opening in your baby’s belly so the bowel passes from inside to outside. This is called a stoma. It lets poop come out into a bag attached on the outside of their body.
If your child needs this, we will teach you how to care for the stoma and change the bag. The ostomy is temporary. The bowel will heal in a few months to a year. Then your child’s surgeon will do an operation to connect the bowel to the anus.

After surgery, your child will be in the recovery room and then go to a hospital room. Children who are very sick stay in our pediatric intensive care unit (ICU) or Level IV Neonatal Intensive Care Unit (NICU), where they get the high level of care they need.

We will give your child pain medicine for their comfort. It is likely they will also have:

• An intravenous (IV) line that goes into a vein to provide fluids.
• A tube that passes through the nose into the stomach. This is called a nasogastric tube or NG tube. It keeps their stomach empty until gas and stool can pass through the bowel.

How soon your child can feed by mouth after surgery depends on the type of procedure they had. We will explain your child’s eating plan and keep a careful watch to be sure your baby is growing well.

Our nurses and lactation specialists will do all that we can to support you in giving your baby breast milk. To keep your milk flowing and to build a milk supply for your baby, we help you with breast pumping and storing your milk. When your baby is ready, our nurses and feeding therapists help with the transition to feeding by bottle or breast.

You can expect your child to be in the hospital for 3 days to 5 days after surgery. Some children need to stay longer based on their health and the extent of their surgery. Your child will be ready to go home when they:

• Can eat well
• Have a bowel movement
• Have no fever or other signs of problems

Our nurses will help set up any supplies you need. You will have plenty of time to practice all your baby’s care before going home.

Seattle Children’s provides follow-up care to watch your child’s health, prevent problems and manage symptoms. Our goal is to follow your child until they reach college age to help ensure they are healthy and enjoy good quality of life.

At regular follow-up visits, the Reconstructive Pelvic Medicine team checks your child’s health. If your child is doing well, these visits may happen only once a year. If your child is having any bowel or other problems, we may see them more often for a while for treatment.

After healing from surgery, your child may have normal bowel movements. But surgery doesn’t cure Hirschsprung disease. Some children will have bowel problems off and on during their lives. These include constipation or soiling accidents (fecal incontinence). For children with Hirschsprung, these bowel problems are treated differently than for children without this condition. Ongoing care from an expert team can help.

These problems may happen when:

• Babies start eating solid food
• Older children add foods that are harder to digest
• Children resist going to the bathroom because they are distracted by other activities

There is also some risk of enterocolitis, even after surgery.

We offer many diagnosis and treatment options, such as:

• A full range of motility studies to diagnose and treat children who have problems with how food moves through the digestive tract. Seattle Children's has the only pediatric motility program in the Pacific Northwest.
• Medicines and changes to your child’s diet, activity level and toilet habits to reduce constipation and fecal incontinence.
• Injecting Botox into the muscle that controls the holding and release of poop (internal anal sphincter).
• Taking part in our 1-week Bowel Management Treatment Program.
• Having another surgery to remove part of the bowel that is not moving stool.

Any treatment will be tailored to your child’s and family’s needs. We will partner with you to make sure your child or teen feels safe, understands what is happening and takes part in decisions around their care, as fits their age or developmental level.