KMT2D- the ribbon that ties everything together
I’ve flipped back and forth on whether or not to invite the world into our newest news- not because we don’t want to share, but because the implications are far reaching for Liam though we (and most of the medical community) know so little about it. For those of you who’ve seen Liam in person, he has some distinctive features: arched brows, incredible hair, and elongated eyelids. These are classic identifiers of Kabuki Syndrome which is incredibly rare and is a multi-system genetic disorder. We have known from the start about many of these systemic anomalies, but with this diagnosis we finally have the missing thread that binds them all together. It’s such a rare disorder that our last specialist (at Duke) with years of experience said, “I don’t have any experience with Kabuki.” As you can imagine, that was not very reassuring. The funny thing is, most medical professionals we’ve spoken to say something nearly identical and we’ve been forced to send scientific papers and ...