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.

OUR MISSION

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

Find out how you can help - let's find the Cure!
Follow us on The CCHS Foundation Facebook page here.

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 FACTS

  • 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.