CCHS: Congenital Central Hypoventilation Syndrome or Ondine Curse

Congenital central hypoventilation syndrome (CCHS) (formerly known as 'The Ondine Curse' after the mythical story - see below) is a disorder of the automatic control of breathing. In CCHS, the body "forgets" to breathe, especially during sleep. Researchers have identified a particular gene defect (PHOX2B) associated with congenital central hypoventilation syndrome, but how the mutation causes the syndrome is not yet known. It is also not known how frequently CCHS occurs, but it is estimated to be a rare disorder.

Infants born with CCHS may have symptoms ranging from mild to severe, including:
  • Poor breathing or complete lack of spontaneous breathing, especially during sleep
  • Abnormal pupils (70% of individuals)
  • Feeding difficulty due to acid reflux and decreased intestinal motility
  • An intestinal disorder called Hirschsprung disease (20% of individuals), in which part of the large intestine has no nerves.
In order to be diagnosed with congenital central hypoventilation syndrome, an individual must have the following:
  • Persistent evidence of poor breathing during sleep
  • Symptoms begin during the first year of life
  • There are no other respiratory or muscular conditions that could account for the breathing difficulty
  • There is no evidence of heart disease.
Some infants with CCHS may be mistakenly thought to have heart defects, or to have another type of breathing problem. Unfortunately, some infants with unrecognized CCHS may die and be thought to have had SIDS (Sudden Infant Death Syndrome).
If an infant is suspected to have congenital central hypoventilation syndrome, a sleep study is performed to determine how severe the breathing difficulty is. Other special tests of respiratory function can be done as well. Complete cardiac and neurological examinations are done to rule out any other type of disorder. Early diagnosis and treatment are important to prevent serious complications caused by periods of low or no oxygen.
Treatment focuses on providing breathing support, usually through the use of a respirator (ventilator). Some children with CCHS will need a ventilator 24 hours per day; others may only need breathing help when sleeping. In some individuals, a surgical implant in the diaphragm muscle can allow electrical stimulation of the muscle to control breathing.
Children with CCHS are able to lead active lives. They do, however, need close supervision while swimming or playing in pools, since their bodies may "forget" to breathe while underwater. CCHS is a lifelong condition, but with proper treatment it does not alter life expectancy.
This condition's name is a reference to the myth of "Ondine," a water nymph who had an unfaithful mortal lover. He swore to her that his "every waking breath would be a testimony of [his] love", and upon witnessing his adultery, she cursed that if he should fall asleep, he would forget to breathe. Eventually, he fell asleep from sheer exhaustion, and his breathing stopped.

I received this from a mother and received permission to share:
I found your blog about CCHS and wanted to comment or leave you with a quick note.

I am so glad that people in the medical field are talking about CCHS. I do understand that your were writting about CCHS with just a quick gloss overveiw of what the disease was about and not digging to deep. I have an 11 year old daughter with CCHS she is 20/26 here are some of the things I wanted to say about the stuff you wrote

•Persistent evidence of poor breathing during sleep -not all the time in fact there have been many who never knew they had the disease until they were in their 40's

•Symptoms begin during the first year of life - not always most yes

•There are no other respiratory or muscular conditions that could account for the breathing difficulty this is true

•There is no evidence of heart disease. they do (not all) but some have heart problems some at birth some not until later.

they also but not always have HD and NB as well.. they dont know when they are full or hungry or thirsty. they dont feel the urge to pee. Most all have eye problems

more and more babies are being vented with biPAP many are still being trached and few like my daughter are paced with breathing pacers.

I do not mean any disrespect at all and I am thrilled that you wrote about it. i just wanted to share my comments with you