Tuesday, April 26, 2011

Long Term Care...Approved!

This morning I got a call from someone at ALTCS who informed me that Annalise has been approved for long term care.  That is such a huge weight lifted off our shoulders.  We are so thankful and happy that she was approved the first time around.  Now the therapies that she currently receives and any that she will need in the future are financially covered.  It will be nice to be able to get her more of what she needs without the worry of the cost of those items.  A few more respite hours will be a welcome blessing as well!

Saturday, April 23, 2011

A Mutated Gene Has Been Found!


Good news, bad news?  I'm not quite sure.  There are still many unanswered questions, but at least we finally have a definite step to follow and research.  OK, bear with me, this is a little difficult to explain (this goes way beyond what I ever learned in Biology!), but I will do the best that I can.  When we saw Dr. Narayanan  last Wednesday afternoon I got some very interesting information.  As of that morning, only 4 of the 5 gene tests for AGS had come back...all of which were negative.  So before we got up there, Dr. Narayanan got a hold of the person who was doing the gene testing and asked if he had the final results.  He said that he did, but they were a little confusing.  What he found was one mutation on the least common of all the AGS causing gene symbols (SAMHD1).

Now, the strange part about that is that AGS is an autosomal recessive disorder, meaning that in order for a person to develop the disorder he/she must receive a mutated gene from each parent.  Two total.  In Anna's case, only one was found which normally would be a sign that she is a carrier.  However, if she was just a carrier, she would not have any of the symptoms...which obviously is not the case.  So, where is the other mutated gene?  Well, Dr. Narayanan explained that one of two things could be going on here.  1)  She is just a carrier of this particular disorder and what she and Bryce actually have is still something totally different than what we have found, or 2) There is a deletion of a gene.  Now, as far as I understand it, this means that there is a gene (or exon, maybe?) that is completely missing.  The trouble is that these deletions do not show up in genetic sequencing and there is currently no clinical test to determine if there is a deleted gene.  Dr. Narayanan said that this may be his next move...to find a way to determine if there is a deleted gene and what it is.

So, where do we go from here.  Well, we signed some forms and sent them to the gene sequencing person (sorry, I don't know what he is called) and Dr. N sent off the blood he has stored for Bryce, John, and I.  They will first test Bryce to see if he has this same gene mutation.  If not, we will figure that Annalise is a carrier of AGS and we will continue on our search. They will also test John and I to see which of us is the carrier.  If Bryce does have the mutated gene, they will test John and I to see where that particular gene is coming from, and go from there.  Hopefully we will have the results in 3-4 weeks. Until that time, I will try to keep from going crazy with the what-ifs of it all.  My brain has been spinning since Wed.  Luckily we keep very busy these days so time should go quickly.  Then we can deal with whatever is found.  I will definitely keep you posted!

Sunday, April 17, 2011

Power Chair Videos







Bryce's New Power!

Last Friday Bryce had his first training in his new power wheelchair. Actually, this is just a loaner for him to use until he learns how to control it completely. Then he will get one of his very own. It is so cool and he LOVES the power, freedom, and independence that comes with it! He uses his head to control it. If he pushes on the head rest, he moves forward. If he touches one of the side switches, he moves in that direction and to stop he lifts his head off of the Head Array.

There are a bunch of pictures and they are all pretty much the same, but I just decided to put them all in here anyway.



















Saturday, April 16, 2011

New Pool

When John and I were out on our date last night (that we didn't know was happening until 5 minutes before we left) we stopped at Walmart to buy Annalise some new PJ's and walked out with PJ's and a pool! We have been working towards getting one for some time but hadn't planned to buy it last night. Oh well, I guess that's what happens when you go shopping with your husband on payday!

When we got home, I told the boys that we had a surprise for them that they would get in the morning. It was fun hearing them try to guess what it was. It took them a while, but they did guess it before we showed them...although we didn't tell them that they had. They really thought that it was the rest of the trampoline that has been sitting in our back yard for 2 years now. But no, that will have to come later.

So this morning after chores we headed out to show them the surprise. They brought these things that William had made to show that it was a great day celebration.

Once they saw that it was a pool we took it out of the car and went back to set it up.

The boys helped John set it up. The box said it would take 45 minutes to set up...it took us a little longer.

Bryce checking out the pool box


Annalise uses just about anything she can get her hands on as a walker.

Spencer kept escaping into the house to play on the computer.

More sorting.

Finally it starts to go up!


It was really hot out there today. Definitely a day that made a pool sound like a great investment!

Almost finished!

William was the first one in.

The water was very cold when you first got in. William, Jacob, Bryce, and I went into the pool as soon as it started filling up. After lunch, Spencer went in for a while on his own, but soon William and Jacob joined him.


Spencer "water bending" in the pool.






These are some pool toys that I bought 2 years ago on clearance that have been sitting in our closet ever since. Even after all that time, they worked great!


Three very happy boys!


I have always steered away from having a pool for fear of one of the little ones falling in. Well, this year we have been talking about it and the older boys are old enough now to know the rules and follow them, and they can swim pretty well. The younger two are no longer able to get close to the pool on their own so that takes away the chance of them falling in. Also, Bryce and Annalise's Physical therapist is talking about getting them into some aquatic therapy this year since it is so much easier for them to move in the water. Having a pool of our own may make this a bit easier. It has also become basically impossible for me to take all of the kids to the public pool on my own. This way, the boys will be able to be outside and do something other than the computer and Wii through the Summer.

I know I sound like I am justifying it, and maybe I am. I guess that is because I feel guilty spending the money on a pool when so many people are helping us to raise money for Bryce and Annalise's needs (which are growing by the minute it seems). But, like I said before, that's what happens when you go shopping and find what you have been looking for, and it is on sale for almost half the price of the others you have seen...especially when you go with your husband on payday!

Tuesday, April 12, 2011

Good News!

It's late and I am very tired tonight, but I just wanted to let you know that we got some good news at Bryce's Orthopedic appointment today. Bryce's x-rays looked really good. Dr. Schrader said that Bryce's hips have not gotten any worse and actually look a little better. Thanks to the surgery, the brace he wears at night, and many, many prayers said in his behalf, his hips are actually starting to move back into place! What that means is no more hip surgery for the time being. Hooray! Dr. Schrader did say that Bryce will most likely still need more intensive hip surgery later in life, but not anytime in the near future. And for now, that is great news! We'll take it!

Also after the appointment we stopped by the wheelchair clinic and had the lost break replaced. They took his chair back, put a new brake on it, and we were on our way. Now he will be able to ride the bus to school again...which he loves!

Thursday, April 7, 2011

Angels Who Call Themselves Aunts of Angels

A few nights ago while doing a quick check of facebook before going to bed, I came across a posting from my sister-in-law Elizabeth. In this post there was a link that led me here AuntsofAngels and into a discovery that filled my heart so full that tears began to run from my eyes! As you will see from the link, Aunts of Angels is a shop that some of Bryce and Annalise's Aunts have created on Etsy. It was a total surprise to me! I sat in amazement as I looked over the things in this shop and read what the plan was for the money earned. They are making and selling amazing items and donating all of the money earned to the Bryce and Annalise benefit fund to help us with further research and care of our precious angels. Thank you so much Elizabeth for having a dream and making it a reality and thank you to everyone who is helping this dream grow so quickly! I am so thankful to these wonderful angels who call themselves the aunts of angels. Be sure to check out their work...it is beautiful!

Also, if you are crafty and would like to contribute to the shop, please email Jodi Clayton at jodi.clayton@gmail.com

Friday, April 1, 2011

Happy Birthday William!

It's hard to believe that my little April fool has hit the double digits. William turned 10 today! I honestly cannot believe that it was ten years ago today that I became a Mom. Since he had his birthday party a week ago, we just did a little thing for him after dinner tonight.

We enjoyed the free cake from Bashas, although William had to scrap the frosting off of this one.

Everyone joined in the singing.


Bryce loves a good round of "Happy birthday to you" no matter whose birthday it is.



What a great boy we have!


Lego Sorry




Happy birthday William. I hope this year is a great one for you!