Tag Archives: CHMP1A

We were fortunate enough to know within days of Dax being born, that he had Pontocerebellar Hypoplasia (PCH), but it all depended on the genetic results to diagnose his type. There have been approximately 115 cases world-wide with PCH and there are a handful of genes that are “commonly” seen as a reason for PCH.Continue reading “PCH Type 8.”