quote:

not only a zebra but one with polka dots

She's unlucky to have this mutation; she's lucky to be connected to institutions that are interested in studying her case and incidentally possibly finding a cure or at least something ameliorating her symptoms. A lot of patients wouldn't have that possibility.

She has become one of those cases that help to tease out more details of how the human body functions. I've usually associated such discoveries with brain injuries, but with the advances in genetic testing, I expect we will see more and more discoveries of this sort. I just heard about one called VEXAS syndrome on tonight's news broadcast that is associated with a different mutation and also responds to steroid treatment.

Perhaps Jon can enlighten us further on the nature of such cases because I think he has had to live with the results of a genetic mutation, albeit perhaps one with a somewhat larger population.

Big Al