Wednesday, May 21, 2014
Possible genetic cause
Fiona had an appointment in Cincinnati today. They've found a gene mutation on the STK4 gene. We don't know if it is manifesting or not. They need to do more tests to see if it is causing her immune deficiency. Her mutation is one that hasn't been described before, she may be the first person to have it. I'll write more later as the tests come back. Our doctor cautioned us not to get our hopes up because they haven't finished all of the testing.