Two Weeks! Jan 3

It's hard to believe Baby Girl is already two weeks old! Part of me keeps saying "it's already been two weeks?!?" And the other part is wondering "how has it only been two weeks?!?" It's amazing how quickly we can adjust to a new "normal" or a routine when we have to!

We met with the geneticist today and now have an official diagnosis: non-lethal multiple pterygium (also known as Escobar Syndrome). It's an incredibly rare genetic mutation (like X-Men without the superpowers) that only occurs when both copies of a specific gene are changed. There's a 99% chance that both C and I are carriers of the mutated gene since there has to be two copies of the mutation present before the syndrome exists. The other 1% chance is that only one of us is a carrier and the other copy randomly mutated on its own (for whatever reason that causes genetic mutations to begin with.) While it's a huge relief to finally have a definitive answer, it also leaves us with a lot to think about and consider - and a whole new round of what ifs to deal with. For instance: there is a 25% chance that future pregnancies will result in babies with Escobar Syndrome as well; there's a 50% chance that Big Sisters are carriers, but their spouses would also have to be carriers for it to possibly effect their future babies (same with our siblings - Dr. R said it's possible this has been in both of our families for generations, but both parents have to pass along the mutated gene in order for the child to be effected); also lots of things to consider as far as treatment and therapy and what our lives will be like over the next years as she continues to grow and progress.

There is not a lot that is known about Escobar Syndrome so I haven't been able to do much reading about it - if you can find anything besides this website and this one please forward it to me - but  Dr. R did give us a couple of scientific journal articles that will probably take me about 17 years and two advanced degrees to understand, but my focus gets to be learning all I can to advocate for Baby Girl now. They also pointed us to this blog that I had glanced through while I was stuck in the NB hospital after she initially mentioned Escobar syndrome. It's a collection of stories from families with children living with varying levels of Escobar. Similar to Autism, Escobar is a spectrum with a wide range of severity. Fortunately, we seem to be on the less severe end of the spectrum because she does have a good range of motion in her arms and legs, her neck is mobile and all of her internal organs are functioning.

I'll continue to post more as I learn and discover what I can. 

In other news, we recast her wrists again - this round will stay on until Monday. The OT and PT are both very pleased with how well the casting is working. Please pray that success continues! The OT also worked with her some on her eating and said she was able to tolerate a tiny bit more before she became too tired and her breathing too heavy to keep going.

We had a visit from a friend of ours from church (who also happens to be an OT and I'm sure we'll be borrowing from her expertise in the coming years!) but I completely spaced and didn't get a picture with her like I have all of the other visitors :(

Tomorrow Dr. G will be back so we'll see what she has to say about all the progress Baby Girl has made over the past week! In the meantime, enjoy these sweet pictures with Daddy :)