Welcome to the CCHS Family Network!

CCHS Network Partners With NORD To Create Disease Registry

The CCHS Network is excited to announce that after a competitive selection process we have been chosen by NORD, the National Organization of Rare Diseases, to develop a Natural History Study of CCHS. The project will be funded by NORD, supported in part by a cooperative agreement with the U.S. Food and Drug Administration (FDA). NORD President and CEO Peter L. Saltonstall said in today's announcement, “Our goal is for the 1 in 10 Americans with rare diseases, most of whom are children, to have a treatment and cure, and we developed NORD’s Natural History Study platform to eliminate challenges standing in the way of that target."

Natural history studies are longitudinal studies that aim to fill research gaps to help medical researchers better understand how diseases progress over time. They can yield vital information that is essential to clinical trial design, such as biomarkers, demographics, important clinical symptoms, genetic and environmental variables, and patient perspectives. To see the full announcement, please go to https://rarediseases.org/nord-announces-20-rare-disease-patient-groups-selected-to-develop-natural-history-studies-as-part-of-fda-cooperative-agreement/ .

The CCHS Family Network is honored to have been chosen for this important research initiative and thanks NORD for giving us this opportunity to better serve the CCHS community.

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.


Find out how you can help - Let's Find The Cure!

Follow us on The CCHS Foundation Facebook page here.


*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 from Jeff Martini on Vimeo.


  • 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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