Teddy's initial diagnosis was Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 1. That mouthful was a lot to remember, but it was ingrained in my mind from the first genetics appointment. Since then, we've heard a couple times (at the National Institutes of Health and at the Congenital Disorders of Glycosylation conference last year) that they are changing the naming structure to refer to the affected gene name. Since then we've been calling his diagnosis CDG-PIGN (although I think we're supposed to call it PIGN-CDG).
This came to mind again when new families are joining our Facebook group because some of them are still getting the MCAHSS1 diagnosis, the acronym for the full name. I think the switch with naming happened a few years ago, but it's clearly not universal.
I simply wanted to revisit this from an education standpoint and to put it out there for those searching for either diagnosis to hopefully find this nugget helpful.
No comments:
Post a Comment