Q: My newborn nephew was born with something called an imperforate anus. It greatly affects his and his parents' daily lives. It's a sensitive subject among family, but lately my own son, who is 11 years old, has been asking about his baby cousin. How can I explain my nephew's condition in a way that my son will understand?
A: This diagnosis can be particularly difficult to discuss and explain. After all, it deals with very personal bodily functions. But it is also a diagnosis that may be more common than some realize.
As many as one in every 5,000 babies is born with anorectal malformations, also known as imperforate anus. This is a congenital defect that happens early in pregnancy, but no one knows why some babies are born this way. In some cases, there is a family history.
At birth, doctors will always check to make sure that a newborn baby's anus is open and in the correct position. Because newborns pass their first stool within 48 hours, internal malformations are usually detected quickly.
With this defect, the baby's anal opening (where stool exits), the rectum (the last part of the large intestine) and nerves that tell the body when it's "time to go" do not develop properly, preventing the child from being able to have normal bowel movements.
Some patients with this condition have other defects including spinal malformations, kidney and urinary tract malformations, congenital heart defects, defects in the windpipe or other digestive tract defects.
This condition requires specialized surgical repair, but the exact procedure depends on the type and severity of the defect. With a properly done operation, the vast majority of patients have the ability to have normal bowel control. As they grow older, some patients may require participation in a bowel management program. With this program, patients can be reliably clean and in normal underwear.
-Dr. Marc Levitt is the surgical director of the Center for Colorectal and Pelvic Reconstruction and a pediatric surgeon at Nationwide Children's Hospital.