Yesterday afternoon we had Louise's appointment in the National Centre For Medical Genetics which is based in Our Lady's hospital, Crumlin (imagine,all these things that are going on in the country that you never know about, interesting.) I didn't really know what to expect and just guessed it'd be a matter of taking our bloods and some talking. My guess was pretty accurate apart from the bloods. We met with the Professor of Genetics who had already seen Louise when she was in hospital immediately after she was born and another doctor.
He said that although PHACE seems to be genetic, so far there is no evidence that it's hereditary so there's no need for any of the other children, or indeed Louise, to worry when they are having children that this could happen again. There was no need to take any more bloods from her as they already have her DNA, genetic and chromosomal reads from her cord blood which was collected at birth. Incidentally he said all her results so far have been normal, which is good. As we know, finding a gene when you have no idea what you're looking for is like trying to find someone in Tokyo when you don't know what they look like, what their name is, where they live or where they work.
Well I think so anyway.