Hirschsprung’s Disease

What is Hirschsprung’s disease?

Hirschsprung’s disease is a rare birth defect that affects the large intestine (bowel). A normal intestine contains ganglion cells. These nerve cells tell the muscles in your intestine to push stools through the bowel and out of the body. A child who has Hirschsprung’s disease is missing some or all of these cells. Cells may be missing from a small part of the intestine near the anus. Or cells may be missing from a large part of the intestine. As a result, stools do not properly move through the intestine. It can cause severe constipation, blockage, and colon infections.

Symptoms of Hirschsprung’s disease

The earliest sign of Hirschsprung’s disease is when your newborn baby does not have a bowel movement. Normally, 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.

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

  • Chronic constipation.
  • Lack of weight gain or growth.
  • Swollen abdomen.
  • Diarrhea.
  • Frequentcolon
  • Anemia (a low number of red blood cells).

What causes Hirschsprung’s disease?

As a baby grows in the womb, the ganglion cells grow from the top of the intestine to the anus. Hirschsprung’s disease occurs when these nerve cells do not grow all the way to the anus. Doctors do not know what causes the nerve cells to stop growing.

Hirschsprung’s disease can be genetic, which means a parent could pass it on to their child. The rare disease is 5 times more frequent in males than in females. Children who have Down syndrome are at a higher risk as well.

How is Hirschsprung’s disease diagnosed?

Talk to your doctor if you notice any signs of Hirschsprung’s disease in your child. Most cases are found shortly after birth. The doctor will run tests to confirm the condition. These may include an X-ray of your child’s abdomen or an exam to check their intestines. The doctor may take a sample of tissue (biopsy) from your child’s rectum to examine it for missing ganglion cells.

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 pass it on to their children.

Hirschsprung’s disease treatment

Surgery is the only way to treat Hirschsprung’s disease. It should be done as soon as the doctor diagnoses the disease. The type of surgery your child has depends on the degree of the disease.

The most common type is a pull-through surgery. First, the surgeon removes the part of the intestine that is missing ganglion cells. Then, 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’s disease may need an ostomy surgery. First, the surgeon brings the end of the intestine through an opening in the stomach, called a stoma. Then, they attach it to a pouch, called an ostomy, 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 ganglion 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 their body needs. Feeding tubes can be inserted through the nose or the stomach.

Living with Hirschsprung’s disease

Hirschprung’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 as a result of the disease. These include diarrhea, constipation, or other problems passing stool. Some children develop an infection called enterocolitis after surgery. This can be serious, so call your doctor right away if your child has the following symptoms:

  • vomiting
  • fever
  • swollen stomach
  • abnormal fatigue
  • blood in the stool.

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 absorbs 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.

Questions to ask your doctor

  • My child seems to be constipated a lot. Does this mean they have Hirschsprung’s disease?
  • Which type of surgery does my child need?
  • How long does surgery last and what are the risks?
  • How long will it take my child to recover from surgery?
  • Is there anything special I should give my child to eat or drink before surgery?
  • What lifestyle changes does my child need to make after surgery?
  • Will my child be able to lead a normal life?
  • What will happen if my child does not have surgery?
  • If I have a child who has Hirschsprung’s disease, what is the chance my future children could have it as well?