Diagnosis, Treatment, and Recovery

Hirschsprung's Disease

When a child is born with Hirschsprung's disease, part of their colon does not have nerve cells. These nerve cells are important because they help push stool through the intestines. Without them, the colon cannot move stool properly, which can cause constipation, swelling and stomach pain.

Diagnosis of Hirschsprung’s Disease

Most babies with Hirschsprung's disease are diagnosed within the first few days of life, especially if they have difficulty passing their first bowel movement, called meconium, or experience severe bloating and vomiting.

Diagnosing the condition involves a combination of medical history evaluation, physical examination, and specialized tests:

  • Medical and Family History: Your health care provider will ask about your baby’s symptoms and any family history of Hirschsprung's disease.
  • Physical Examination: This may include checking for abdominal swelling and performing a digital rectal exam to evaluate for stool presence and muscle tone.
  • Diagnostic Tests:
    • Imaging Studies: A contrast enema X-ray can highlight areas of the intestine lacking nerve cells.
    • Rectal Biopsy: The definitive test where a small tissue sample is taken from the rectum to check for the absence of nerve cells.

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Treatment of Hirschsprung’s Disease

Surgical intervention is the primary treatment for Hirschsprung's Disease, removing the affected portion of the colon.

If your child is unable to undergo surgery immediately, your surgeon may recommend a temporary stoma (a small opening in the stomach that allows stool to pass from the intestine into a bag) until surgery is possible. This allows the bowel to decompress and heal before the main corrective procedure.

For corrective treatment, the Swenson pull-through surgery is a common surgical treatment for Hirschprung's Disease. During this procedure, the surgeon removes the part of the intestine that doesn’t work and reconnects the healthy intestine so your child can pass stool normally.

Step-by-step Swenson Pull-through Process

Anesthesia and preparation

Your child will undergo anesthesia so they will be safely asleep during the procedure.

Removing the diseased colon

  • The surgeon uses a tiny camera and instruments to guide the surgery (laparoscopy) from the abdominal side.
  • The last part of the diseased colon near the sphincter muscles is resected through the anus.
  • The part of the colon that doesn’t have nerve cells is carefully removed.

Pulling down the healthy colon

  • The healthy intestine is brought down and connected to the anus (the opening where stool comes out).
  • Frozen section histology is used to determine what piece of bowel is healthy and safe to pull through
  • You will not see any incisions on the bottom, as all the joining up is done internally.
  • Connecting the healthy parts of the colon together creates a normal pathway for stool to leave the body.
  • After the procedure is complete, the incision is closed, and the body is given time to heal.

Recovery from Swenson Pull-Through Surgery

In the first few days, they may receive IV fluids for hydration and nutrition until their intestines start working again and they can feed normally.

In some cases, if healing needs more time, a temporary stoma may be needed. The stoma is removed after a couple of months when the bottom has healed.

Some children may need stool softeners or dietary adjustments to help with bowel movements. Your doctor will likely schedule regular follow-ups to monitor healing and address any concerns. While every child’s recovery is different, many go on to have normal bowel function and a healthy life.