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This rare disorder can cause a lifetime of chronic, dangerous constipation.

Anthea Levi
June 13, 2017

Almost everyone knows that bloated, clogged-up feeling brought on by constipation. But being so constipated that you're carrying almost 30 pounds of built-up stool is another story.

That's exactly what happened to one 22-year-old man. According to news reports, the man had been constipated virtually since birth, and though he was able to go number two with the help of laxatives, his abdomen slowly became more and more distended. Finally, doctors determined that his intestines were so full of fecal matter, they could explode at any moment. So they surgically removed 28 pounds of poop from his body.

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Of course, this wasn't your ordinary case of constipation. Doctors determined that it was the result of Hirschsprung's disease, a congenital disorder that occurs when the inside of the large intestine lacks certain nerve cells, called ganglion, that help stool move along to the bowel.

People with Hirschsprung's are unable to propel their stool forward, so it backs up and obstructs the bowel. “The stool essentially gets collected until a patient can’t hold it anymore,” explains Lisa Ganjhu, DO, a gastroenterologist and clinical associate professor of medicine at NYU Langone Medical Center.

The result is more serious than your post-brunch bloat. A person can experience extreme constipation, swelling of the abdomen, infections, and a loss of appetite over time. “They may also start vomiting," adds Dr. Ganjhu. "The digestive tract is basically like an assembly line, so a blockage downstream can cause upchuck upstream.” 

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While it's rare, Hirschsprung's disease is not as uncommon as you might think. It affects about 1 in every 5,000 people and is four times more common in boys than girls. “We also tend to see it more in individuals who have other chromosomal abnormalities, like Down syndrome,” adds Dr. Ganjhu.

Hirschsprung's is usually diagnosed shortly after birth, which is why it’s surprising that this man unknowingly lived with it for 22 years. That said, it's possible that he only lacked ganglion cells in a small portion of his large intestine, which can delay the onset of symptoms for months or years.

While symptoms can start to present in an infant just 24 hours after delivery, it’s not impossible for the disease to be overlooked at first. “Since it’s a fairly rare disorder, doctors or parents may just keep giving children laxatives or prunes or Miralax to counteract their constipation,” says Dr. Ganjhu. “What they don’t realize is that this is more of a neurologic issue than not eating enough fiber or drinking enough water.” 

To diagnose Hirschsprung's, doctors use a combination of abdominal X-rays, enemas, and rectal biopsies. If the disease is confirmed, a colectomy is performed to either remove the entire colon, or just the segment of the organ that’s abnormal.

“By reattaching healthy tissue to the anal sphincter, people are able to have more regular bowel movements,” says Ganjhu. In fact, about 95% of Hirschsprung's patients who have been treated for the disease end up with normal digestion habits and minimal constipation.

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Still, if this man's situation taught us anything, it's that you shouldn't poo-poo a bad bout of constipation. For many people, getting unclogged is just a matter of consuming more fruits, vegetables, and other fiber-rich foods. But if you find yourself feeling backed up all the time, it's a good idea to check in with your doctor—even though it's highly unlikely you have Hirschsprung's.