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It’s a cycle that’s vital to life — we eat food, digest it, and excrete what we can’t use.
Excretion, though often a subject of disgust or humor, is very important. It usually begins on the first day of a baby’s life, when the newborn passes their first stool, called the meconium.
But some babies have trouble. If a baby can’t have a bowel movement, they may have Hirschsprung’s disease, a condition in which there are missing nerve cells in the large intestine.
Hirschsprung’s disease is congenital — that is, it develops during pregnancy and is present at birth. Some congenital conditions happen because of the mother’s diet, or because of an illness they had during their pregnancy. Others are because of genes the parents pass on to the newborn.
Researchers don’t know why some people have Hirschsprung’s disease, though they believe the disease is related to flaws in DNA instructions. Though the disease can be deadly, modern medicine is able to fix the problem with surgery, and help children who have been treated to live relatively normal, healthy lives.
What are the symptoms of Hirschsprung’s disease?
Symptoms vary with age. Eighty percent of children with Hirschsprung’s disease have symptoms in the first six weeks of life. However, children who only have a short segment of intestine that lacks normal nerve cells may not exhibit symptoms for several months or years. Their primary symptom is constipation.
Each child may experience symptoms differently, but common symptoms in infants include:
- failure to have a bowel movement in the first 48 hours of life
- abdominal distention (stomach bloating)
- gradual onset of vomiting
- constipation or failure to pass regular bowel movements
Children who don’t have early symptoms may experience the following signs of Hirschsprung’s disease as they get older:
- constipation that becomes worse with time
- loss of appetite
- delayed growth
- passing small, watery stools
- abdominal distention
What causes Hirschsprung’s disease?
Scientists aren’t sure why the ganglion cells don’t migrate down to the end of the rectum completely. However, genetic factors may be involved, especially when longer lengths of intestine are involved or when someone else in the family also has the condition.
For instance, there is an increased chance that a couple will have a child with Hirschsprung’s disease if one of the parents has the disease. (The chances are higher if the mother is the one with Hirschsprung’s disease). If a family has a child with Hirschsprung’s disease, there is a 3 to 12 percent chance that another baby from the same parents will also have the disease.
Hirschsprung’s disease occurs five times more frequently in boys than in girls. Children with Down syndrome have a higher risk as well.
Your child may need to undergo one or more tests in order to be properly diagnosed with Hirschsprung’s disease (also called congenital a ganglionic megacolon).
Most newborns will have the following tests:
- Abdominal x-ray
- Contrast enema. This procedure allows the doctor to examine the large intestine for abnormalities. A special dye that can be seen on x-rays is given via the rectum as an enema. This provides a clearer x-ray and gives your child’s doctor a better picture of what is going on.
- Rectal biopsy. This gives us a sample of the rectum to examine under the microscope for the presence or absence of ganglion cells and the presence of hypertrophic nerve trunks (thickened, enlarged bundles of nerve fibers).
There are other tests that, when abnormal, suggest that Hirschsprung’s may be present. Your child may need to have more testing or a biopsy to confirm or to rule out this diagnosis.
Treatment of Hirschsprung’s disease consists of surgical removal (resection) of the abnormal section of the colon, followed by reanastomosis.
Hirschsprung’s disease is a very serious condition. But if found quickly, it can help your child live a relatively normal life.
Doctors will usually do one of two types of surgery:
Pull-through procedure: This surgery simply cuts out the part of the large intestine with the missing nerve cells. Then the rest of the intestine is connected directly to the anus.
Ostomy surgery: This surgery routes the intestine to an opening made in the body. The doctor then attaches an ostomy bag to the outside of the opening to hold the waste from the intestine. Ostomy surgery is usually a temporary measure until the child is ready for the pull-through procedure.
After surgery, some children may have issues with constipation, diarrhea, or incontinence (lack of control over bowel movements or urination).
A handful may get enterocolitis. Signs include rectal bleeding, fever, vomiting, and a swollen abdomen. If that happens, take your child to the hospital at once.
But with proper care — especially a proper diet and plenty of water — these conditions should subside and most children are able to experience normal bowel movements within a year of treatment. Other children will have bowel issues on and off into adulthood throughout their lives. Because Hirschsprung’s disease is congenital, it means it is a lifelong issue that should be monitored.
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