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.

The CCHS Family network founder talks about CCHS

Click here to read the article from 'Yahoo! Parenting'.

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.
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