Day: May 9, 2015

So it was a really nice doctor – or two, who said in the summer of 2011, you have to take your daughter to a genetecist.  There are too many unconnected “dots” I was told.  Someone will be able to diagnose something.  But, having gone almost 8 years with her multiple surgeries, countless doctors appointments, and unexplainable ailments, I had my doubts.  I spoke for an hour with the genetic counselor before the visit.  I think it took the doctor all of 20 minutes to say, “It’s a PTEN mutation, most likely Cowden’s Syndrome.  We will test her today.  She will be positive, and you will be too mom.”

P – what?  Cowden’s Syndrome – What the hell?  How could he know that from looking at us?  Was I missing something – some kind of freaky attributes that made us so obvious?  I left more self conscious than curious, and…