Our son Grayson was born in March 2019 and was diagnosed on day one of life with Cobalamin G and began treatment immediately. His early diagnosis was due to our prior knowledge that our family was a carrier for a Cobalamin disorder. Our first son, Drew, was also born (2011) with Cobalamin G, however we did not know of his diagnosis until 2 months of age and damage caused to his brain resulted in his death. It was not picked up on his newborn screen. Only until recently were we able to do rapid genome testing through our metabolic clinic to find the mutations responsible for the defect.
*Grayson is the son of Cobalamin Steering Committee member Brittany.