Cleveland Clinic Results

Well, results from the Cleveland Clinic have rolled in fast. The main findings have been a vitamin D deficiency which we can try and correct immediately and a deletion in chromozome 22(del 22q12.3, 281.8 Kb, overlaps LARGE). To be honest I dont really know exactly what that means but Andrew and I have just sent our blood over to be tested to see whether this deletion is significant or whether it is just the way our genes are (a polymorphism). The results will probably pose some important answers and enable us to know whether our other two girls may be carriers. So as yet no real diagnosis, just a few clues.....