Hirschsprung disease (HD) occurs when nerve cells (also called ganglion cells) are absent from the lower part of the colon. The segment without nerve cells is called the aganglionic segment and it always starts at the bottom of the colon affecting the lower end. It can also extend up the colon, even into the small intestine. The absence of ganglion cells leaves a portion of the colon essentially paralyzed and unable to propel waste products along its length. This is the reason why babies born with HD are often unable to pass their first “meconium” stool and children diagnosed later in life have severe constipation. In addition to having difficulty passing stool, infants and children with HD also typically have abdominal distension and sometimes develop vomiting and loss of appetite.

My son Malachi was born in November 2008. Malachi was born with short segment HD. We had one long terrifying month spent in Intensive Care Unit trying to figure out what exactly was wrong with Malachi. All I knew was that my son was “failing to thrive,” a phrase that in other words means we have no clue what is going on. All of which is understandable given the fact that HD only occurs in 1 in 5000 births.

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