A bad case of the Mondays

Today was a bit of a struggle. I was able to hold Chase for just a couple hours. He kept having desats and bradys, and just couldn't get comfortable, so they made me put him back in his oxygen hood. It was so disheartening b/c he usually does really well when I hold him. I felt so helpless, and as though I should be able to help him and fix it as his mom, but I couldn't. The more I watch him struggle to breathe from his nose, the more I believe the tracheostomy will really help him. We are supposed to meet with the ENT docs tomorrow afternoon to discuss the procedure, ask questions, and I guess give consent for the surgery. More to come on that.

I did alot of research today on Chondrodysplasia Punctata (CDP). And I was able to get in contact via e-mail with a family who's son was diagnosed with CDP eight years ago at birth. It sounds like our story parallels theirs closely so far, so I think they will be a great source of information and support. A listserv has been started up in the last year for families who have children with CDPX1 (which is the type they think Chase has). This was developed in part by a genetics counselor from Johns Hopkins to connect families and to inform us of new developments surrounding CDPx1. I can't imagine that there are that many families affected, since this condition only affects 1 in 500,000 births (from what I've read). But I guess there are many different forms, so I'm not sure.

I have also contacted Dr. Bober, who is co-director of a skeletal dysplasia program at a children's clinic in Delaware. I reviewed Chase's case with him via e-mail to get his feedback, and to ask questions (I asked lots, more than could be answered by e-mail). He was kind enough to offer to talk to me by phone, so I hope to speak with him tomorrow and get more information.