Hirschsprung’s disease, or HD, is a rare bowel condition. It causes nerve cells known as ganglion cells to be missing from the muscle layers in the large intestine. In rare instances, they can also be missing from the small intestine.
Ganglion cells are required to push stool through the bowel to the rectum and out through the bottom. If these cells are missing, stool collects and continues to build up. This can result in constipation, blockages, gas, vomiting, lethargy, bloody diarrhoea, leaking stools, and a swollen abdomen. It can be life-threatening if left untreated.
The disease is named after Harrold Hirschsprung, a Danish physician who first described the disease in 1888. It is unknown as to why not all ganglion cells are formed when the child is developing in the womb. The disease is classified as a birth defect.
Hirschsprung’s disease affects 1 in every 5,000 births and is normally first detected when a baby does not pass meconium in the first few days after birth. However, it can also be years before the disease is diagnosed. Hirschsprung’s disease is generally more common in males and those who have relatives with the disease.
Hirschsprung’s disease is normally categorised into short-segment or long-segment disease based on the length of bowel missing ganglion cells. Treatment almost always requires surgery, with outcomes varying depending on the length of bowel removed. Prior to surgery, it is common for bowel washouts to occur to ensure that stool does not continue to build up.
Surgery for short-segment disease involves the removal of the section of the bowel that is missing ganglion cells with the remaining bowel pulled through and re-attached to the rectum. This is known as a ‘pull-through’ surgery. Surgery for long-segment disease also involves the removal of the section of the bowel that is missing ganglion cells. However, the remaining bowel is moved to an opening in the abdomen (known as a stoma) and connected to a bag. A pull-through surgery can be attempted at a later date.
Outcomes following surgery are generally positive, but ongoing bowel management is required in most cases. Toilet training may be difficult or delayed. Your child may continue to suffer from constipation or loose stools. There can also be serious ongoing complications, such as Hirschsprung’s associated enterocolitis. This may require a hospital admission.
Every case of Hirschsprung’s disease is different, and every child is different. This is what makes Hirschsprung’s such a complex disease.