harrisonjanetteb

I made a post to register on this site because of the above thread requesting information on Congenital Central Hypoventilation Syndrome. I have a child/adult now with CCHS and Hirschsprung's Desease (22 year old) and I am also on the board of the CCHS Family Network http://www.cchsnetwork.org/literature. My son is one of the most difficult cases seen and has also been one of the most successful http://www.youtube.com/watch?v=yIvZIVmVPSs. I can be of help to the doctors asking for assistance with care by sending them to the noted resources. Have them go to the CCHS Family Network website and source the Thorasic Society's paper on care http://www.cchsnetwork.org/images/stories/PDF/literature/CCHS-ATS.pdf as well as other information and physicians specializing on CCHS in the United states and others in Europe. There are some genetic resources mention on the website as well. It is comprehensive as to testing, genetic testing, evaluation and care criteria for a successful outcome. We have a parents group on Facebook and other families are always willing to help. It is quite distressing that physicians are not making contact with the resources and success stories for this population. Monitoring of O2 but primarily CO2 is critical. Other associated conditions can be present and not necessarily found in each case. Genetic testing can help with predicting the likelihood of severity and associated conditions but not precise. Homecare is very possible with nursing support, family support and a good medical team. Healthy regards, Jan Harrison