About 1 in 5,000 people are born with Hirschsprung Disease condition. Most people diagnosed shortly after birth although few instances people not diagnosed. Until well into their adult life as late as their 70s. Hirschsprung disease is a form of megacolon that occurs when part or all of the large intestine. In antecedent parts of the gastrointestinal tract have no ganglion cells and therefore cannot function
The Hirschsprung disease (pronounced hirsh sproongz) paved the way for others describing similar cases. But it took until the mid-1900s before the causes of the disease became clearer. A breakthrough in our understanding of Hirschsprung came in 1948. when two American doctors found an absence of nerve cells in the large bowel of children with the condition.
Today, we know that the disease sometimes occurs in families and might be caused by genetic mutations. But the causes of the disease are complicated, as more than one gene is thought to be involved. When consuming food, you control putting the food into your mouth, and you control when the food exits the body. But you have no control over what happens in between. This depends largely on the action of muscles in the gut which are under involuntary control from the nervous system. The intestines are a tubular structure with multiple layers, some of which are muscular. These muscle layers are connected to an automatic nervous system, which controls many of your organs.
Enteric Nervous System (ENS)
In the gut this takes the form of a network of nerves called the Enteric Nervous System (ENS). This system is responsible for moving the gut, helping it work to move food along the intestines, helping break food down and finally compacting it to form faeces when everything of use removed.
The connection between the nervous system and the gut is made very early in life, in the early stages of development in the womb. In Hirschsprung’s, the nerve cells fail to migrate to the gut during development, and the connection is impaired. The consequence is that the muscle layer which lines the intestines is no longer under full autonomic control, and the gut cannot move faeces along. So it accumulates, causing swelling of the bowel.
The first 48 hours following birth are critical for detecting the disease. Newborns usually have their first bowel movement within 48 hours. If the newborn baby doesn’t have a bowel movement during this period, it can be a sign of the disease. Doctors will usually perform some tests, such as x-rays and biopsy, to confirm a diagnosis.
At the moment, the only effective treatment for Hirschsprung’s disease is surgery. This involves removing the non-functioning part of the bowel (the bit with no nerves attached), and then connecting the remaining functioning part of the bowel to the anus. This procedure is called “pull-through”. But there are new treatments on the horizon. The part of the nervous system which controls the gut (ENS), has its own subset of stem cells. One possible solution is to use a patient’s own ENS stem cells to repopulate the section of bowel that is devoid of them.
A second therapy is to use genome editing CRISPR technology to correct mutations in genes that cause some variants of Hirschsprung’s. This should help nerve cells to reach the gut during the crucial early stages of life in the womb. Although these treatments are still a long way off, they appear to be promising. With a bit of luck, in a couple of decade’s time, cases like Hai’s will be consigned to the history books.