Remember those jokes about people who died because they “forgot to breathe”? It seemed funny because who need to be reminded about breathing? Isn’t it automatic? If only perhaps to force ourselves to breathe in slowly or deeply, yes, it could be controlled but not to forget to initiating it. But “forgetting to breathe” does happen. That is, if you have Ondine’s curse. It is a very rare disease and affects about 300 children worldwide (though it can happen in adults too, especially those who are victims of automobile accidents).
Today I came across a blog which tells of a baby who could be the first case of Congenital Central Hypoventilation Syndrome (CCHS) or, also known as Ondine’s curse, in the Philippines*.
Janis wrote about baby Hannah, daughter of her friend and former colleague. When Hannah was born via cesarean section, she was diagnosed to have pneumonia and doctors also thought she may have a congenital heart disease. However, Hannah still had difficulty breathing even after the pneumonia was treated. She has to be kept on mechanical ventilator all the time. Tests were done, congenital heart disease ruled out, and she was diagnosed to have CCHS. The baby needs some help right now, as treating CCHS is quite expensive, being that Hannah needs to be on ventilator all the time. If you are willing to help, just go to Janis’ blog for the contact info and other details.
What is CCHS?
Congenital Central Hypoventilation Syndrome is a failure of the autonomic control of breathing.
The syndrome is attributed to dysregulation of Autonomic Nervous System (ANS), which controls, among other things, breathing, temperature regulation, sweating, blood pressure regulation, and even motility of esophagus. These are bodily functions of which we do not have voluntary control of, which means patients with CCHS do not actually “forget” to breathe. Rather, patients do not have the rebreathing ventilatory response to changes in the amount of carbon dioxide and oxygen in the body. Patients fail to have the appropriate response in states of hypercapnia (excess of carbon dioxide in the blood) and hypoxia (deficiency of oxygen in the body tissues), which is to breathe. Patients who can maintain spontaneous breathing when awake probably rely on residual peripheral chemoreceptor function.
Most patients breathe normally when awake but hypoventilate during sleep. If the disease is severe, the infant has difficulty breathing in both wakeful and sleep states.
