Hirschsprung disease

We finally received a diagnosis for Addyson 

What causes Hirschsprung disease?It’s not clear what causes Hirschsprung’s disease. It sometimes occurs in families and might, in some cases, be associated with a genetic mutation. Hirschsprung’s disease occurs when nerve cells in the colon don’t form completely. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.

What are the signs and symptoms of Hirschsprung disease?

In older children, signs and symptoms can include:

  • Constipation
  • Bloated stomach 
  • Fatigue
  • unexplained fever

How is Hirschsprung disease treated?

Hirschsprung disease is a life-threatening illness, and treatment requires surgery. Children who have surgery for Hirschsprung disease most often feel better after surgery. For treatment, a pediatric surgeon will perform a pull-through procedure or an ostomy surgery. During either procedure, the surgeon may remove all or part of the colon, called a colectomy.

Results of surgery
After surgery, most children pass stool normally — although some may have diarrhea at first. Long term, it’s possible to have continued constipation, a swollen belly and leaking of stool (soiling). 

Children who have Hirschsprung’s disease are prone to a serious intestinal infection called enterocolitis. Enterocolitis can be life-threatening. It’s treated in the hospital with colon cleaning and antibiotics.

Most often, the areas missing the nerve cells are the rectum and the sigmoid colon. However, some children are missing the nerve cells for the entire colon or part of the small intestine.

In short-segment Hirschsprung disease, nerve cells are missing from the last part of the large intestine.

In long-segment Hirschsprung disease, nerve cells are missing from most or all of the large intestine and sometimes the last part of the small intestine.

Rarely, nerve cells are missing in the entire large and small intestine.

In a child with Hirschsprung disease, stool moves through the bowel until it reaches the part lacking nerve cells. At that point, the stool moves slowly or stops.

Frontal image of body chart with stomach, colon, anus, rectum and small and large intestines

The large intestine, which includes the colon and rectum, is the last part of the gastrointestinal (GI) tract.

Eating, Diet, and Nutrition

If a surgeon removes the child’s colon or bypasses it because of an ostomy, the child will need to drink more liquids to make up for water loss and prevent dehydration. They also need twice as much salt as a healthy child. A doctor can measure the sodium in a child’s urine and adjust his or her diet to ensure adequate salt replacement.

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