I found out today that I’m the proud carrier of the r117h gene. I have the pre mutation for Fragile X with 60 repeats and this cystic fibrosis gene. I’m rare. Yay! Go me! That means my husband carries the f508del. The pulminologist has recommended getting our older checked to see if they are carriers and if so what gene do they have. This means a blood draw. Can I just say how much I do not want to do this? I will. I have. It’s just one of those things you do. J is now 50lbs and 45″ tall. He’s not a little boy. A blood draw requires me wrapping practically my entire body around him so that one person can hold his arm and the other draw the blood. Surprisingly he hates being held down more than the blood draw. It’s not much better for A. She’s not little either. And I still have to get E’s blood work done to test for Fragile X. Cause you know, I need more going on.
The doctor again expressed her positive outlook for E.
It’s the small things you look forward to when dealing with medical or neurological issues. The small victories each day. Today E is healthy and looks great and J knows his numbers 1-10. A speaks more and more clearly every day. Today was a good day.
So far this evening I’ve been up twice with E. it’s currently 2:50 am. J decided to get up crying this evening too. First time in a long time that I’ve had to go in there. Now he’s awake and talking to himself. I can work with that. Sound off on the monitor and I can hopefully sleep.
It was a long night. E is drooling a lot so I think we’re starting the teething process which also makes sleeping rough. Rougher than it is.