What is CCHS?
CCHS or “Ondine’s curse” is a complex rare syndrome of the central nervous system that is produced by a mutation in genes called PHOX2B with different severity levels. The syndrome was first described in 1962 and is named after the mythological nymph Ondine which fell in love with a human, and when she found him in another woman’s arms she cursed him to forget breathing when he goes to sleep – we believe we can remove this curse!
The syndrome is extremely rare and is defined as an orphan disease that appears in one out of 300,000 births all over the world. However, some researchers believe that many cases of “crib deaths” are actually CCHS patients that were never diagnosed.
Other complications CCHS patients experience include arrhythmia requiring pacemaker, digestive system often accompanied by Hirschsprung syndrome, problems regulating body temperature, vision problems and cancer.
Without the appropriate treatment of mechanical ventilation, the patients have no chance of surviving.
Unfortunately, there is no cure for this disease. The only treatment for it is dependency on artificial breathing machines which does not cure the syndrome, but only saves the lives of the patients every night.
Links to other CCHS groups
United states CCHS Family Network – Go to web
French CCHS Family Network – Go to web
Polish CCHS Network – Go to web
Japan CCHS Group – Go to web