Monday, June 8, 2009

Recent Developments

We have had some exciting news to report. Haley rolled over from her back to her belly twice this past weekend. Now most people with "typical" children will think that is "so 10 months ago" but for Haley this is a huge milestone. She has never purposefully rolled over before. There for a while when she was very young (around the age when this is normally happening) she rolled over a few time belly to back, but I think this was mostly due to gravity. Haley has a HUGE head (off the charts in measurement terms) and I think just the weight of it pulled it down and therefore flipped her body over. But the fact that she was able to coordinate her movement to roll her entire body over is great!!! And rolling in the direction she did (back to belly) is much harder than the other way around.

Also I finally heard from Dr. Maria today. I contacted him back in April when we first got the JS diagnosis and sent him a copy of her MRI. For those who do not know who Dr. Maria is, he is one of the nations only Joubert Syndrome experts, and is also credited with helping discover the brain abnormality seen on MRI. He was working in Charleston, but has now moved to Augusta, which was the major cause in the delay to contact us. He said he reviewed her MRI and, as expected, her's is very characteristic of JS. However, the rest of her brain looked very good. We briefly talked about Haley's history and what she was doing now. Of course, he cannont give me much of an idea over the phone on her severity or prognosis, but seemed to think she may be on the milder end. He wants to see us once he gets established in Augusta, which will be late summer or early fall. I wish we didn't have to wait that long, but for now we are getting the appropriate care.

He did want us to follow up with the geneticist and also suggested starting to think about alternative communication devices for Haley. We are already trying to learn baby sign language, but he also mentioned getting some sort of laptop or assistive communication device. I'm going to have to do some more research about that. The reason behind this is because language is always the last thing to develop and because she is delayed in every other area, it is only natural to be delayed in speech. This is apparently very common in JS.

We have had an unbelievable response to the fundraiser we are having. It is almost overwhelming how generous you all are. We cannont thank you all enough for your kindness.

1 comment:

Christina said...

I'm sooooo proud of her!!! Way to go baby girl!!!!