Geneticist Appointment

I am not sure why I was taken aback when I got the call about Henley having a genetic abnormality. I mean, at this point very little surprises me. I had just been at Target with Haven and we were getting ready to pull out of the parking lot when I got the phone call. The nurse from our neurologist office said that she had just received Henley's micro array genetic test results and explained that she has what is called a "copy loss of her 16th Chromosome". Uhm, okay? Times like this I wish I had paid more attention in school. I quickly rummaged around to find a scrap piece of paper and a pen to write down what this woman was telling me. I knew this would be one of those things I needed to take home and google to make sense of it. It was like another out of body experience for me in which I only heard key phrases "can effect cognitive development and speech" "Higher risk of Autism" "Autistic characteristics". The nurse told me that we needed to call and make an appointment with one of the geneticists at Cook's as soon as possible to discuss Henley's case and work on getting Adam and myself tested for these same things. Reason being that if we had somehow passed this abnormality on, it was possible that Haven & Zane might be at risk as well. However, if this is a new thing in Henley then we can probably rest assured that the other two don't have it. I called to make an appointment and the soonest we were going to be able to get in was mid February! I told the girl that Henley was scheduled for brain surgery in three weeks and that some of the complications from this genetic abnormality were our reasons for doing this surgery. I told her that we really needed to talk to a geneticist ASAP so that we could make absolutely certain that we were making the right choice for her. Our thought was, if her problems are mostly due to a genetic abnormality that we can do nothing about, then what is surgery going to accomplish? The scheduler put me on a wait list in hopes of someone else canceling their appointment and us being able to get in earlier. While we were in the hospital for Henley's 24Hr EEG I got a call that an appointment had opened up for Tuesday. I love how God orchestrates things! In the meantime I was able to speak at great length with a genetic counselor and she directed us towards a couple of great websites to read up on Henley's abnormality before our appointment if we wanted to. Adam studied up on this information and was able to explain most of it to me. Fast forward to the appointment. We met with the geneticist and after looking Henley over and talking with us about her, she stated that she was not concerned because it appeared that Henley was developing normally despite this abnormality and because this particular abnormality only appears in 3 out of 10,000 people in the general population there was little known about this particular deletion. We told her about the Chiari and wanted her opinion on the surgery etc. She told us that in her opinion the two items were not related and that the Chiari was a separate deal all together and that we should continue on with our plan to do the surgery. After checking her reflexes she noted that Henley did show some muscle weakness and delayed reflexes (both possible symptoms of Chiari). We left this appointment with another firm confirmation that surgery was the way to go.