Monday, June 29, 2009

I was looking back through the blog today, and 2 years ago today I got the faint positive pregnancy test......now look where we are, time flies.

Here are some recent pics. Also, I know I've been forgetting to update the Picasa album....I updated it just for you Matthew!!!

"Nose"

"Chillin"


Wednesday, June 24, 2009

Hallelujah!!!!!!

Haley has never been much of a drinker. She maybe drinks 16 ounces of anything all day long, which isn't very much. I finally found something that she will very happily drink.....for the time being anyway.

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Its vanilla flavored and is pretty tasty!!!!

Monday, June 22, 2009

Gratitude

Sorry it has been so long since I last posted, we have been busy as usual with a few added activities. The Pampered Chef fundraiser party was last Thursday and it was a total success. Along with that and some donations from some truly kind and generous people we raised almost enough money for the conference. I never thought we would come anywhere close to actually paying for the whole trip, all I had hoped for was to maybe cover the cost to get up there and the hotel. We are extremely blessed to have such wonderful people in our lives, I can't thank you all enough!!!

Haley has rolled over a couple more times in the past week and is rolling onto her side at night and sleeping for several hours that way. She took one or two steps with a walker today in therapy. She is starting to make more sounds. Last week she started saying "mmmmmaaa". I'm not sure if she means "ma-ma" or if its just a new sound she has discovered. We are still trying to get her to learn some signs. So far the only one we have tried is "milk". We can do the sign for milk and she will grab her milk cup and drink, but she is not signing it back yet.

We go see Dr. Nelson, her neurologist, tomorrow for a follow up. I'm sure not much will happen at that visit. Hopefully he has researched a little bit more on what JS is and how to help us. I'm not faulting him for not knowing about JS, so far no one we have worked with had ever heard of it, but I would just like to be able to have a real discussion with a medical professional about JS and it not be me explaining it to them. If that makes any sense :) That is partly why I am so excited about the conference. We will be surrounded by people who will know anything and everything about JS.

Sorry, but no pictures this time. I have been really slack with pictures again. But soon, I promise!!!

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.

Friday, June 5, 2009

Haley's New Tricks

Its been FOREVER since I have posted a video. Haley has discovered a few body parts and knows them by name. When I ask her to do "Itsy Bitsy", that means "Itsy Bitsy Spider", her favorite song right now. Seems like she does something new everyday!!! Enjoy!!!

video

Monday, June 1, 2009

15 Month Well Check

Haley had her 15 month pediatrician appointment. Can you believe it....15 months already!!!! She weighs little over 20 lbs and 31 3/4 inches tall putting her in the 10th percentile for weight at 75th for height. She is following a good and steady growth pattern. This is the first time we have seen the pediatrician since we got the Joubert Syndrome diagnosis. Of course, he had never heard of it, not that I had expected him to. I printed out some information on JS and the guidelines for yearly monitoring for complications for him. Other than the JS, she seems to be a happy and healthy little girl. She only got one shot today, and she did very well with that.

We all went to IKEA for the first time on Memorial Day weekend (I think there must be an IKEA in Heaven....I love this place!!!) We found the cutest little table and chairs for her. She and Will sit and color everynight before bed at the table. Her little legs aren't quite long enough to reach the gound yet, so she just sits indian style in her chair, it is so cute.

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And here are some pool pictures from this weekend. This girl just loves water!! It may actually be therapeutic for her too. One of the suggested therapies on the JSF website is water therapy.

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