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OVERVIEW

What is Hirschsprung’s disease?

Hirschsprung’s disease is a birth defect that affects the large intestine (bowel). This condition occurs while a baby is in the womb.  It is caused by missing nerve cells in the intestine. These nerve cells tell your intestine to push stools through your bowel. Cells may be missing from a small part of the intestine near the bottom (anus). Or cells may be missing from a large part of the intestine. This causes stools to back up in the intestine. It causes severe constipation, blockage, and colon infections.

SYMPTOMS

The earliest sign of Hirschsprung disease is when your newborn baby does not have a bowel movement. This should occur in the first 24 to 48 hours after birth. Other symptoms include:

• Constipation or gas, which may make your baby fussy
• Poor appetite
• Swelling of the stomach
• Vomiting bile (a green liquid) after eating
• Bloody diarrhea
• Inability to pass a stool
• Infrequent or explosive stools

Sometimes, symptoms are not present at birth. This may mean your child has a milder case.  Symptoms in older children include the following:

• Chronic constipation
• Lack of weight gain or growth
• Swollen abdomen
• Diarrhea
• Frequent bowel movements
• Anemia (which is a low number of red blood cells)

CAUSES & RISK FACTORS

What causes Hirschsprung’s disease?

As a baby grows in the womb, their nerve cells may not grow from the top of the intestine to the anus. Healthcare providers don’t know why the nerve cells stop growing.

Hirschsprung’s disease can be genetic. His means a parent could pass it on to a child. The rare disease is 5 times more frequent in males than in females. Children who have inherited or congenital conditions are at a higher risk as well. This includes Down syndrome.

DIAGNOSIS & TESTS

How is Hirschsprung’s disease diagnosed?

Contact your healthcare provider if your child has any of the symptoms listed above. Most cases are found shortly after birth. Your healthcare provider may do a physical exam and ask about your family history. If your healthcare provider suspects Hirschsprung disease, they may order imaging tests, such as an X-Ray of your child’s abdomen. Your healthcare provider may take a sample of tissue (biopsy) from inside your child’s bottom. A baby cannot be tested for the condition while in the womb.

PREVENTION

Can Hirschsprung’s disease be prevented or avoided?

Since the cause of Hirschsprung’s disease is unknown, you cannot prevent or avoid it. However, parents who have the disease can unknowingly pass it on to their children.

TREATMENT

How is Hirschsprung’s disease treated?

Surgery is the only proven way to treat Hirschsprung’s disease. It should be done as soon as it is diagnosed. The type of surgery your child has depends on the severity of the disease.

The most common type is a pull-through surgery. The surgeon will remove the part of the intestine that is missing nerve cells. They reattach the healthy part of the intestine to the anus. During surgery, the surgeon may need to remove all or part of the colon as well.  Once your child heals, they will have a functioning intestine.

Children who have more severe cases of Hirschsprung disease may need an ostomy surgery. The surgeon brings the end of the intestine through an opening in the stomach, called a stoma. They attach it to a pouch called an ostomy. The pouch sits outside the body to collect stool. This creates an alternate way to remove stool from your child’s body. The pouch should be emptied regularly to dispose of the stool. When the surgeon attaches part of the large intestine to the stoma it is called a colostomy. When the surgeon attaches part of the small intestine to the stoma it is called an ileostomy.

Your child may have this surgery prior to the pull-through procedure. It allows their intestine to heal. In this case, the ostomy is a temporary solution. If nerve cells are missing from too much of the intestine, the ostomy may be permanent.

During either surgery, your child may need a feeding tube. This helps them receive the nutrients they need. Feeding tubes can be inserted through the nose or the stomach.

Living with Hirschsprung’s disease Hirschsprung’s disease cannot be cured on its own. It can be fatal for children who do not have surgery.

After surgery, most children lead normal lives. They may have minor health problems because of the disease. These include diarrhea, constipation, or other problems passing stools.  Some children develop an infection. called enterocolitis (digestive tract inflammation). This can be serious, so call your healthcare provider right away if your child develops the following symptoms:

• Vomiting
• Fever
• Swollen stomach
• Abnormal fatigue
• Blood in the stool

Some problems can occur after pull-through, including:

• Narrowing of the anus
• Constipation
• Diarrhea
• Leaking stool from the anus
• Delayed toilet training
• Enterocolitis (digestive tract inflammation)

Children may need to make some lifestyle changes to help manage their condition. For instance, eating foods that are high in fiber can help reduce constipation. The large intestine collects water and salt that the body needs. If your child has to have a large portion of the intestine removed, it will absorb less.  Make sure your child gets plenty of fluids and salt to make up for this.

Your baby and older children will feel better after ostomy surgery because they will be able to pass stool easily. Adjusting to life with an ostomy pouch will take time and may make your child feel different. Your child will need to learn how to care for the stoma and how to change the ostomy pouch. With a few lifestyle changes, children with ostomies can lead normal lives. An ostomy nurse can answer questions and show your child how to care for an ostomy.