A Parent’s Guide to Hirschsprung Disease

Hirschsprung disease is not a common condition and only occurs in 1 out of every 5,000 births, but it can still have a dramatic impact on young children and their families. If you or someone in your family has been diagnosed with this disease, read on to find out more about why this disorder happens — and what can be done about it.

What is Hirschsprung Disease?

Hirschsprung Disease is a condition caused by missing nerves in the intestines that interfere with peristalsis, the movement of muscle that pushes food through the digestive system. People with this condition can have problems passing stool and it is the main cause of intestinal blockage in newborns.

Doctors have known about Hirschsprung disease for a long time now — it was actually first described as far back as 1691! — and made well-known by Dr. Hirschsprung in 1891. It was not until the middle of the 20th century, however, that the cause of this disease was more fully understood.

How do You Know if You have Hirschsprung Disease?

Signs and symptoms of this disease will vary depending on how severe they are.  Also, it will be different depending on the age of the child involved.

Signs and symptoms of this disease in infants include:

• No bowel movement in the first 24-48 hours after birth
• Jaundice (yellowish skin)
• Swollen belly
• Vomiting
• Gas
• Poor feeding
• Poor weight gain
• Constipation or diarrhea
• Fussiness

Signs and symptoms of Hirschsprung disease in older children include:

• Chronic constipation problems
• Swollen belly
• Gas
• Malnutrition
• Slow weight gain/slow growth and development
• Fatigue

What Causes Hirschsprung Disease?

The exact cause of Hirschsprung disease is unclear, although researchers have found that changes in certain genes are implicated and that this problem tends to run in families.

These genetic mutations cause a lack of nerves in certain parts of the intestines and this makes it very difficult to pass stool and is responsible for many of the signs and symptoms of this condition.

Are There Complications from Hirschsprung’s Disease?

The most serious complication caused by Hirschsprung’s disease is a condition called enterocolitis.

Enterocolitis happens for two reasons:

• The buildup of the stool in the intestines causes a serious overgrowth of bacteria.
• The buildup of this stool also puts pressure against blood vessels in the colon and eventually leads to damage of the colon wall.

This can be a life-threatening condition and requires someone to be hospitalized so that they can be put on antibiotics and have their colon cleansed.

Who is at Risk for Hirschsprung’s Disease?

While this disease can develop in any patient, there are many risk factors for this disease, including:

• Family history. Those who have siblings with this disorder are more likely to get it themselves.
• Asian Americans are three times as likely to get Hirschsprung’s disease as are other ethnic groups.
• This disease occurs five times as often in males compared to females.
• Medical history. People who have Down’s syndrome, congenital heart defects and other disorders are more likely to have Hirschsprung’s disease as well.

How Does the Doctor Know if You Have Hirschsprung’s Disease?

There are several tests that doctors can run if they suspect that you may have Hirschsprung’s disease.  These include:

• Abdominal X-rays. For this test, a contrast dye will be placed in a bowel through the rectum; this dye helps the doctor to visualize any absence of nerves and provide a silhouette of the colon.
• Manometry test. This test measures the muscle reactions of the colon: a small balloon is inserted into the anus and inflated: this should cause the muscles to relax. If they do not, it is a sign of Hirschsprung’s disease.
• Colon biopsy. This is when a small sample of tissue is taken from the colon; it is considered the surest way to identify and diagnosed this condition.

How is Hirschsprung’s Disease Treated?

Treatment for Hirschsprung’s disease revolves around surgery on the colon, where it is resectioned and an ostomy sometimes placed in order to help the colon rest, then the health portion is reattached to the anus.

The amount of colon that has to be resectioned and whether the treatment is early can determine how effective this surgery is.  Some kids will still have problems with incontinence or constipation after surgery.  The constipation can be helped with a high fiber diet, more fluid, regular activity and the use of laxatives if needed.  However, for most kids who have the disorder, the outlook with surgery is good.

In short, Hirschsprung disease is a rare of serious disorder of the intestines that makes it difficult for kids to go to the bathroom normally. However, with surgery, the outlook for kids with this condition is generally a good one.