Cerebellum dysplasia with cysts

laurding

I know this is a long shot. They have identified the syndrome and gene that is causing our daughter's issues and although there is no official name yet, I thought I would see if I could find some of you mommas on here. We are working with Malformations of the Hindbrain Research Institute in Seattle and I understand there are 14 kiddos worldwide that they have found to be affected. Roughly 10 families, so this is a long shot, especially without an official name. This is the 'working title' that the researchers are using. Our daughter has thinned retinas, cysts on her cerebellum, weak muscles, etc. she also has hydrocephalus, but not all kiddos with this do. At first they were looking at different forms of MD. If this sounds like you, send me a PM! I would to start a specific community. Again, I know it is a long shot, but I am an optimist