Emily's Geneticist Appointment

This afternoon Emily had her appointment with the geneticist. It was nice that they offered a clinic at our pediatrician's office so that we didn't have to travel to burlington or even farther for it.

Our pediatrician wanted her to be seen by the geneticist because he was concerned that the bones in her skull fused together prematurely (before she was born) and that may have an underlying syndrome associated with it that was causing her inability to fight off these infections.

When we got there her favorite receptionist spotted her and they quickly started to play. Emily even got brave and traveled through the window to go play with maureen for a little bit, while we were waiting to be seen. When we finally got sent back we were greeted by 2 med students, an intern and the actual geneticist. Can you tell they came from the university hospital? lol

They first started with a gazillion questions about our family medical history, and about her brothers (even asking to see pictures of them!) Luckily I had a few not so great ones on my phone that I had taken a day earlier. Then came a TON of measurements - seriously they measured every little part of her body. (She is now up to 18 pounds, up just shy of a pound since the last time she was weighed a few weeks ago). Emily definetly could tell she was the center of attention and milked every minute of it. She played with the med students and went for a "walk" holding the hands of the geneticist down the hall. She had to show off what a good walker she was.

The geneticist explained that sometimes the bones in babies heads fuse together before birth which can cause problems, and would require surgery. She said if you imagine the bones in a babies skull to be like the earth plates, when they collide in an earth quake ridges form. That can also happen in babies (cranial stenosis). As their brains develop and grow their bones collide and form ridges (which emily does not have any ridging). She did say that emily's eyes were wideset which we knew all along but that will not cause any problems in the long run, rather that it is a "sign of beauty" - she also said that her forehead was a big head, my response was ummmm you obviously haven't seen her daddy ha ha ha. That she definetly got from him lol.

So nothing genetically is causing her immune problems. Thank goodness! We are supposed to follow up with the geneticist in a year, t make sure she still doesn't have any ridging, but they weren't really worried.

So we still aren't much closer to figuring out why she can't fight these infections. We are slowing checking off possible causes one baby step at a time. Our pedi wasn't in the office today, so I imagine we will hear from him either tomorrow or sometime later this week, as to our next steps.