We had our 6 month appointment with the geneticist this week. We were there for over an hour going over updates, checking her out, wondering, planning. I love this doctor. While the first time, it was hard to hear him describe Hope's features with such medical terms, he always mentions how cute she is and that seems to help. :) We spend about 20 minutes with the genetic counselor, and then the doc comes in and spends over 30 minutes with us. It was probably closer to 45 with Isaac interjecting and wanting HIS head measured, and HIS arm length checked, etc. They are very patient over there, that's for sure.
While Hope's growth curve for height, weight and head circumfrance all continue to grow parallel to one another, her head circumfrance continues to be off the charts. We hope each appointment that the gap will begin to close and her head growth slows down, but that's not the case yet. The doc noticed a few new things, but nothing that would ease him into a diagnosis of any kind. So, we still don't really know if we're working with anything at all, or something that has a real name. We will likely be getting a Microarray test done soon, which is a simple blood test that will determine what Hope's chromosones look like - if there are mutations, additions or deletions from what should be. About 10-20% of these tests turn up helpful info, so it's likely it won't do a whole lot of good, but with insurance covering it all, worth the shot.
In addition to the geneticist, we met with one of the speech therapists one on one this week. She brought up her thoughts about Hope's development and wondered if she might have Childhood Apraxia of Speech
(Apraxia info) rather than just a delay. Reading through the info, it seems very likely. She and the other therapists are going to pay specific attention to her in the next few playgroups and do a little diagnostic work with her to see that's what it is. If it is, the playgroup we're in now (Hanan "It Takes Two" program - 2 1/2 hours a week) is good, but not sufficient. It would require much more intentional work with her to bring her up to speed.
The next few week to a month will likely bring more answers in both of these arenas - which may or may not be connected.
I continue to feel a peace about it all - knowing that God has made my little girl as his beautiful daughter and that we are doing all we can to see if there is more we should be doing or not.
