My name is Benjy Files. I created this website with the hope of finding others with a clinical diagnosis of CCHS with negative PHOX2B testing. The vast majority of information I’ve found on CCHS refers to patients with mutations in PHOX2B. However, there are hints that there may be a few of us out here, as discussed in the articles referenced on the homepage.
My goal for this site is to provide a point of connection and hub for resources. Eventually, I’d like to conduct a survey to gather information.
I don’t want to be alone with this extremely rare, mysterious disease. And if that’s you, too, please reach out! There is strength in numbers.