Our daughter was born prematurely at 24 weeks due to placental abruption. After about 4 weeks in the NICU, she began to present with extremely low platelet counts (17) but because always transfused, we never knew her true platelet levels. A bone marrow sampling revealed she had no megakaryocytes. She passed away after her PDA ligation, but the genetic testing revealed she did carry only one mutation for CAMT. They believe the other mutation may have been located on an intron or deleted genetic material.
We have found that I carry the mutation she had. We are now in the process of IVF with PGD to have a healthy child. Would love to share stories with others who have experienced this condition.