11.24.16 De Novo KCNQ2

Yesterday I got a confirmation phone call from the genetics lab that there were zero KCNQ2 genes in either Ed's or my blood.     They are confident that this is a sporadic mutation, which means that although it is in the gene, it is not inherited. 

However, they cannot give us a 0% chance of having another child with the same genetic mutation. There is a slight possibility of germline mosaicism, though this risk is approximately 1%. The medical recommendation is amnio testing on any future pregnancy, which they estimate to be near 100% accurate for gene mutation. This doctor would recommend termination and said that he would not see why another course would be chosen. 

Obviously, Ed and I had already made a decision to continue having children without waiting for a diagnosis. We knew it would potentially be a risk. This is not a simple decision to make, but we see Aimee as valuable and worth raising. We would be very grieved if there was a reoccurance, but we would not consider missing out on bringing a precious person into our family whether disabled or fully able. To be clear, I can understand the great pain that would cause a family to choose termination. I can understand, though it breaks me, because I also know how much we would have missed without Aimee. 

That being said, one of my primary questions after we received Aimee's diagnosis was for Caleb and Elliot. Could they possibily be carriers? Blessedly, no. There is 0% chance that they would pass this mutation to their own children. If they had received a single mutated cell, it would have been in all their cells, meaning that they would have been in the boat with Aimee. They have no chance of passing KCNQ2 on to their children.