"Did you have testing done while you were pregnant?", "Did you know before?", "Was everything "fine during your pregnancy?" 95-100% of the time after someone meets Sonzee and we begin a conversation those or similar questions and/or comments are brought up. Grandparents, soon to be parents, friends of pregnant mothers, young adults, inquisitive people, you name it, everyone wants to know. My guess is people want to be told we knew and yes it can be prevented, but we must have made some choice to keep her. But the hard reality is, "Yes we did have testing, no we didn't know beforehand, yes, everything was fine while I was pregnant, and good luck."
"But if you had an amnio then you would have found out!" "Good luck", I say "because no we wouldn't have, not with her type of mutation". For those who respond that they had microarrays completed in utero for their unborn child, I say, "Good luck, Sonzee's microarray is normal". "Good luck" to those who are under the misconception that genetic means Sam or I passed down the mutation because "yes we did have testing and no neither of us have a mutation on our CDKL5 gene, Sonzee's mutation is de novo-it's hers, it's random, and she's the only one in the world currently with it, good luck."
It is hard to comprehend the complexities of genetics. It is hard to fathom that no matter how much prenatal preparation occurs, no one is exempt. To those who don't think about the possibility of rare, "good luck, we never did either". The truth is, CDKL5 and the approximately 7,000 other RARE genetic disorders that are currently known are rare, but not one person is immune and not one person is guaranteed that rare won't happen to their child, so I say, "good luck".