16p13.3

Another surreal moment. I've had a lot of these in the last few years. I will always remember where I was when my doctor called me to tell me I was pregnant. I was driving down a gravel road to a farm to see one of my First Steps clients. That call changed my life forever.
Thursday I got another call that turned into another surreal moment. I was in the middle of cooking dinner and answered my phone, fulling expecting it to be David but it was the kids doctor. He started by telling me about all the tests that came back negative and as he's telling me this I'm thinking why is he calling me to tell me this, why did he just have his nurse call. Then he tells me that the chromosome test shows that Nolan has a partial chromosomal deletion and he thinks that is the big player in Nolan's delays. He also stated that Nolan has a partial deletion of a gene, but he doesn't think that is playing into his delays. The doctor tells me that he doesn't know much about this so he is referring us to a genetic counselor, that also happens to be a neurologist. I'm then asked if I have any questions. I'm in shock and all I can ask is what chromosome is it and which gene is it. He tells me, I write it down, thank the doctor and hang up the phone. I look at the kids watching tv and try deep breathing to try to not burst into sobbing tears while cooking dinner. I suspected one of these tests would come back with something but didn't want to hear it.
I call my closest friend because I need to tell someone and know she will understand completely what I'm feeling. I didn't call David because he would be home within 15 minutes and I'm sure me crying on the phone about something the doctor said might alarm him.
Later that night I decide I'll do research so that I can have some questions to ask the doctor. But the first thing I read says something about children passing away in early childhood and quickly decide that I'd rather be ignorant and just talk to the genetic doctor.
I'm still in shock and cry easily when I think that my baby having something wrong with him that we can't fix. I'm so very thankful that my dearest friend has been doing research and informing me on support group sites and that Nolan doesn't seem to have the severe complications that the articles talk about.
By the way, I did burn dinner that night. I also have been having pains with my left arm starting immediately after dinner, which is probably stress but David thought for a moment that it may be a heart attack. I guess I'll be going to the doctor next week but I also think I need some girl time. With all the therapies/doctor's appointments we have going on I rarely get social time and it looks like we'll be scheduling more soon. For my friends reading this let's meet up, even if it's for a play date.