Hirschsprung's Disease
What is Hirschsprung's disease?
Hirschsprung's disease occurs when some of the nerve cells that are normally present in the wall of the intestine do not form properly during fetal development.
During digestion, intestinal muscles move food forward in a movement called peristalsis. In order for this movement to occur, these special nerve cells are required.
Because these nerve cells are missing in children with Hirschsprung's disease, normal peristaltic movement cannot occur. Consequently, stool backs up, causing either partial or complete intestinal obstruction. Eventually, a bacterial infection can develop in the digestive tract, causing serious problems. Severe worsening of the obstruction can lead to perforation and overwhelming infection.
All children with Hirschsprung's disease require surgical treatment.

What is Congenital Central Hypoventilation Syndrome?

CCHS, Congenital Central Hypoventilation Syndrome, is a disorder of the central nervous system in which the autonomic control of breathing is absent or impaired. A CCHS child's respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is typically sluggish during awake hours and absent (to varying degrees) during sleep and serious illness or stress.
While most CCHS children breath adequately, though shallowly, while awake, they do require observation for their respiratory status, and, they require mechanical ventilation for sleep or illness. About 17% of CCHS Children require 24-hour ventilation (many of these children use phrenic nerve pacing during the day) and about 13% of the children suffer from Hirschsprungs Disease.