Hirschsprung’s disease is a disease of the colon discovered by a Danish physician called Harald Hirschsprung way back in 1886. It is a rather rare congenital disease, affecting just 1 in 5000 births, and is thought to be caused by the interaction of two mutant genes known as RET and EDNRB (with arguably another six genes that are also implicated through their interactions with these two key genes). It is also known as congenital aganglionic megacolon and the main symptom of the disease is that of an enlarged colon. Fortunately there is a treatment for the disease that is highly effective although it does involve some pretty invasive surgery.
This enlargement of the colon is caused by an obstruction of the bowel that results from the aganglionic section of the colon, i.e. the section of the colon that lacks the ganglion nerve cells that would normally be present there. This problem with the affected section, which can be anything up to a foot in length, leads to chronic constipation. It can be diagnosed using a barium enema or through a rectal biopsy, looking for a lack of ganglion cells in the area.
In the past the treatment of the disease would have involved a colostomy being performed on the patient. This would have seen a cut being made in the large intestine and through the abdomen. The contents of the bowel would then have been drained out into a bag. This would have had to be used until such time as the rest of the operation could be performed. A child may have had to wait a few years for their physical condition to be right for the operation, for example.
But the colostomy operation is no longer a necessary step in the treatment because of the quicker diagnosis and the greater understanding that the doctors have of how to keep the colon clean. Now the treatment of the disease involves just the two stages of surgery. In the first stage a so-called resection occurs, where the diseased part is removed from the colon.
The second stage of the surgery then involves a physical stretching of another part of the colon where the necessary ganglion cells are to be found intact, over the area where the ganglion cells were missing. After this second stage of the surgery, the so-called pull-through surgery stage, the area can then be sown up. In 85% of patients this operation allows them to function normally, although the other 15% will have to use laxatives in the future.