Big words...as if Thanatophoric wasn't big enough...

Cohen has had a really good day. He came off of his room air today and has done well with that. He has had a good day with bottles as well. He is a little off schedule and seems to be becoming a bit of a snacker late afternoon but he is handling his feeds so that's good. He does still seem to drop a little in his oxygen saturations when he is eating but was much better about that today then yesterday. He has a bit of a temper - he got really angry when the nurse took the tape off of his face from the tubes. It apparently did not feel good and he took quite a while to recover. His lungs may be small but he sure knows hot to use them when he needs to.
The geneticist came by to see us today. He and the folks in Germany have an idea of what they think Cohen may have, but we are still waiting for the Thanatophoric Dysplasia tests as well. There are no tests to confirm what they are thinking so it's sort of an observation diagnosis and a wait and see as he develops. They think he may have something called Odontochondrodysplasia. It is a short limbed skeletal dysplasia that also involves a narrow chest like Cohen has. The two main things that are tipping them off to this is the lack of facial abnormality that most skeletal dysplasias have and the x-rays of his spine. His spine bones are very flat and they are not very dense. It is extremely rare. It seems that as long as the children don't run into respiratory distress due to illness and if their chest grows well enough for their lungs to support their growing bodies that they are able to live a long time. Because it is so rare, there is not a lot of conclusive info about life expectancy. The disorder does not seem to have any mental disability connected with it. It seems that most of the kids are able to walk eventually. The "odonto" part is due to problems that the children have with their teeth.
We just got all of this info this morning and haven't completely had time to process it all. What we do know is that God has given us Cohen for 13 days so far in spite of his tiny little chest and lungs and for that we are beyond thankful. We continue to praise God for what He has done.