Welcome to the CCHS Family Network!
CCHS - Congenital Central Hypoventilation Syndrome
CCHS is a multisystem disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or impaired. A CCHS patient’s respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is sluggish during awake hours and absent to varying degrees during sleep, serious illness, and/or stress.
The CCHS Family Network is a non-profit, tax-exempt organization registered in the United States. Our efforts focus primarily on education and support of our families and CCHS patients, inter-family and family-physician communication, and supporting and facilitating CCHS research.
CCHS FOUNDATION Give a Breath
CCHS RESEARCH ADVISORY BOARD Working to find a cure
*Watch as young Madi Yang, CCHS, night-time dependent only, gets ready for bed.
Click here to watch the video.
Mary Vanderlaan talks about CCHS
Click here to read Mary's article.
- CCHS is an orphan disease with little funding support from government or pharmaceutical industry.
- There are an estimated 1000 - 1200 diagnosed cases in the world currently.
- The condition results from a mutation in a gene called Phox2B – that gene controls the development of the nervous system. Most new cases are de novo, i.e. only the affected baby has the mutation not the parents or sibs.
- There are varying degrees of severity to the condition – some patients are only night-time ventilator dependent, others need ventilation 24/7. Fewer than 20% of patients also have Hirschsprungs disease, a bowel motility disorder. In some patients, cardiac pauses occur and require implanted cardiac pacers
- No matter the severity there is NO cure for CCHS. There are no medications to treat CCHS.
- The only treatment for CCHS is life-long mechanical ventilation for sleep, or, in some, day and night ventilation.
- With good care over the life-time and with early intervention a child born with CCHS can expect to live a long life, though annual testing and routine check-ups are required to optimize a CCHS patient’s lifespan.