Updates and haircuts!

Happy Tuesday and welcome back! It's only been a week since my last blog post, but as always there's more adventure on the horizon.

We met with genetics last week and had a nice long chat with our team. As most everyone knows, Jameson is clinically diagnosed with Cornelia de Lange syndrome. (Clinically meaning that he's diagnosed based on physical features.) There are currently 5 known gene mutations that cause this disease and Jameson has tested negative for all of them. So the question is, where to go from here? The next step for us in finding answers is doing a whole exome sequencing test. This is a blood test that looks for any mutations in a person's genes and DNA. For example, when a woman tests for the genetic mutation for breast cancer she's doing a small section of a whole exome sequence. The test they would do on Jameson would test ALL the genes known to cause diseases. And from there, we would hopefully figure out more about why he has developed the way he has. Obviously, this is a big decision to make. Not only will it look for things that we suspect, but it will find things we might not want to know about. Like whether he has a higher likelihood of cancer or dementia. It raises a lot of ethical questions about how much you need to know about his future and when you've gone too far. Would you want to know your future in that sense? It's a hard question to wrap your mind around.

In other news, little man will be getting a buzz cut tonight! (Pictures to follow later this evening ) I hate to cut it before it gets cold, but he will be getting an EEG on Monday and that means about 25 sticky electrodes all over his head.  I figure rather be safe than sorry!  Hopefully he doesn't mind too bad and we do love the cute hats that come with the cold weather!

Thanks for stopping by, I'll update everyone again next week after our big trip to University of Iowa!