Sam's Story

Since a number of people come here for updates on Sam, I thought I'd keep the latest here for easy access. Sam was diagnosed with Hydrocephalus at our 18wk ultrasound. Holoprosencephaly (HPE) was diagnosed via MRI when I was 30wks pregnant, along with Agenesis of the corpus callosum, absent septum pellucidum, and fused fornices. HPE was confirmed via MRI when he was 6wks old, but at that point we were able to see that he did have a corpus callosum-it is just thin. At that point Rhombencephalosynapsis was also added to his diagnosis. We sent his scans to The Carter Centers for Brain Research in Holoprosenecphaly and Related Malformations in October in hope of gaining a more definitive diagnosis on the type of HPE and what we might expect for his future. In December we heard back from the research team with the news that they do not see HPE in his scans! How that is possible after multiple drs of different specialities had confirmed it for months, we cannot explain. We are in the process of sending his information off to another research study, this time for Rhombencephalosynapsis, in hopes of finding out more about that diagnosis, as it is fairly rare. He has defied every odd and expectation placed upon him before birth. He is meeting all of his milestones on time and is the happiest little boy one could imagine!