Thursday, September 29, 2011

"I'm Baaack!"

So today was one of the most tiring, frustrating days that I have had in a long time. However, somewhere between the early wake-up, the toilet flowing over, the multiple wet sheets (by one child), the clean kitchen floor suddenly covered in something sticky (which of course nobody knows anything about), the phone call telling me that my husband would be out of town all next week as well, the therapies, appointments, and hour long session with Bryce's case manager where I had to explain over and over again the fact that no, Bryce is not going to get better, No, he is not going to be able to eat by mouth, walk, talk, etc. again (yes, even if we set a goal for that), yes, it really does take over an hour to get him (just him) ready for the day,  and everything else that happened today, something really cool happened.   After Annalise's useless appointment at CRS this afternoon, we walked across the street to visit the staff at  The Ryan House and to pick something up from there that we had left during our last visit.  Annalise was in her walker and as we went through the front doors, she looked around and suddenly threw her arms up in the air and said loud and clear, "I'm baaack!"  (She is 2.  Where does she come up with these things?)  She then proceeded to walk right in and all around the place like she owned it. It was so funny.  I wish I had had a video camera.  There were two staff members there who we have worked with before who had just come up to welcome us.  The one said that this had to be the best entrance she had ever seen.

The other cool thing was that while we were at Ryan House, we got to meet Ryan, yes, THE Ryan of the Ryan House.  He is a really sweet 10 year old boy with SMA.  He was in a wheelchair and instantly began playing and racing with Annalise.  Him in his chair and her running in her walker beside him.  He would then race up to her like he was going to run into her and stop just in time.  She laughed and laughed.  SO CUTE!  It was like they were instant friends.  There really is something special about these kids!  I didn't get any pictures, so hopefully we will get to meet Ryan again some day.  I did sign us up for a couple more visits for later this year though.  I LOVE that place!

Friday, September 9, 2011

Anna's New Walker

Annalise finally got her walker today.  The minute it came, she wanted to use it.  It has a little flexible seat in it which gives her a little extra support, but as you can see in this video, it needs to be adjusted.  She seemed to think it was great fun just to sit and roll herself around.  I'll see what I can do with it in the morning, but for now, she is having a ball!

Sorry that the video is a little unstable.  William and I were having a hard time controlling our giggles as we watched her roll around...especially when she beeps as she go backward.  The things she comes up with are hilarious!  

Today, our girl became just a little bit more independent!

Friday, September 2, 2011

Clear as Mud!

Sorry about the confusion that my last post has caused.  I've had a lot of people ask me what our latest news means and if it confirms that the kids are just carriers of AGS instead of actually having it.  So, here is a little more information, I don't know much, but hopefully this will help clear it up a little bit.

First off, the fact that they did not find a deletion does NOT confirm that they do not have AGS.   It just brings us back to maybe they do, maybe they don't. The genes causing this form of AGS (AGS5) were only discovered a little over a year ago, so there are still many unanswered questions about it.   Dr. Crow also believes that there is at least one other type of AGS whose cause (gene) has not yet been that may somehow play a role as well.  

So, what we do know for sure at this point is that John, Annalise and Bryce are definitely carriers of AGS5.   (We will need to have the other boys tested sometime in the future to find out if they are carriers as well)   We also know that carriers do not usually show symptoms or if they do, they show up later in life and much more mild than what Bryce and Annalise have, often it's inflammation and Lupus like conditions I believe.  

So something more than just being a carrier is going on...either they do have AGS and we just haven't found out the other defective gene, OR it may be some other type of LD which is not currently able to be diagnosed through testing, OR, it may be completely coincidental and they could have something totally different that just looks a lot like AGS Leukodystophy.  Clear as mud?!  I thought so.  = )

Hopefully that helps some.  The fact that it is not totally clear to me makes it really difficult to explain it and have it make sense.  Basically though, the bottom line is that we seem to have stumped the experts yet again and we really don't know any more today then we did 2 and a half years ago when this all started.   ...and so the journey continues!

Thursday, September 1, 2011

News from England

I received an email from Dr. Narayanan this morning stating that Dr. Crow had just emailed him saying that no deletion was found in the children.  Totally not what I expected to hear.  Dr. Crow is going to think about it some more and get back with us.  Dr. Narayanan said he will be doing the same.  So...the mystery continues... Sure wish I could know what is going on with my babies.