What is PCH?

PCH is a symptom caused by a group of genetic disorders. There are currently 12 groups of genetic disorders known to cause PCH.                                                         PCH is short for Pontocerebellar Hypoplasia.                                             The 12 genetic disorders branch off into their own realms depending on the mutation. Jake’s mutation, one of the rarer ones, is within the gene SEPSECs. So his PCH type is 2d. Hence PCH2D.  🥴 I know right!!                                      PCH causes the brain to either not grow properly in the womb or to shrink over time. For most of the children, it is degenerative and life limiting. Jake has had brain scans and unfortunately for him, his case his degenerative showing his cerebellum in particular already showing signs of atrophy. This genetic disorder is autosomal recessive meaning it has been passed on by both parents. So both me and Jamie carry this gene. Depending on what parts of the brain are effected will determine what sort of symptoms the child gets, the most common being seizures, muscle tone problems, mobility problems and feeding issues.