In the summer of 2013, a diagnosis was produced by whole exome sequencing (WES), the sequencing of the coding part of the genome (the exome). This new methodology succeeded in linking the complaints of the child to Kabuki syndrome, which was already described in the biomedical literature. While Kabuki syndrome is described by the geneticists and neurologists as a once and for all representation of the reality of the child's condition, this chapter attempts to reveal how it is accommodated in a variety of meaning giving activities – biomedical, caring, social and spiritual. It describes that the diagnosis offers new possibilities for stakeholders to interact with it, but also demands them to close off other ways to talk and think about it, and deal with it. The chapter presents a brief biography including three snapshots: a first encounter in the doctor's cabinet, a first interview with the parents and a diagnosis for the disorder.