How do you diagnose Hirschsprung disease?
According to the National Organization for Rare Diseases (NORD), between 85% and 90% of people are diagnosed with Hirschsprung disease in early infancy because of the inability to pass the first stool or meconium.The most common diagnostics tool used to detect the presence of Hirschsprung disease is a suction biopsy of the rectum. This test involves taking a sample of tissue and screening it for the absence of ganglion (nerve) cells. The presence of Hirschsprung disease is confirmed if nerve cells are not in the samples. Your doctor may recommend more screenings including abdominal x-rays to know if there is an intestinal blockage [4]. If there is an intestinal blockage, your doctor will confirm how persuasive or widespread the condition is.
Another form of testing may include an anorectal manometry to know if the rectum is in a good state. Your doctor may also recommend a barium enema or contrast to test the state and functions of the large intestines. In some cases, people with Hirschsprung disease may also experience other atypical development. Your healthcare provider will recommend a clinical geneticist to determine the underlying condition of atypical development is present.