Tuesday, April 26, 2011

Approved!

I got the phone call this morning...Annalise was approved for long term care!  We are so excited and thankful.  Prayers are being answered.

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!

Evaluation Results

The evaluation went well although initially Annalise does not qualify for long term care.  However the lady doing the evaluation was able to see that ours is a unique situation and that although Annalise does not fit into the state's normal criteria of a child in need (which is so frustrating!), she will indeed need long term medical assistance.  So, she is going to go ahead and pass the paperwork on up the chain with a long description of what Bryce has been through and where he is now and where Annalise is heading.  I gave her the notes I have from the neurologist and faxed the rest that I could get a hold of.  I also faxed a description of Leukodystrophy from the ULF website since most people don't know much about it.  She said that if worse comes to worst and Annalise is denied, we can apply for long term care again.  I know that is possible, and exactly what I would do, but I really hope we don't have to go through that again.  Bryce wasn't approved until the second time around and it is just a waste of everybody's time and money, not to mention, emotionally draining.  Anyway, I guess we will know in 2-3 weeks if she qualifies or if we start the process all over again!

Monday, April 18, 2011

Long Term Care

Within the hour, someone from the state will be here to do Annalise's evaluation for long term care. They called Friday and set it up for this morning. This kind of thing just puts my stomach in knots. I really hope that she qualifies. Wish us luck and keep the prayers coming! I'll let you know how it goes.

Sunday, April 17, 2011

Bryce's New Power!

Last Friday, Bryce had his first training in his power wheelchair. He LOVES it! I think he looks great in it too so I had to share!





Bryce already enjoys his new independence! He can actually get out and play with the other kids. It makes a mom's heart happy.

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 the 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!

Thanks for the prayers! Have a good night!

Monday, April 11, 2011

Surgery Results

Tomorrow morning Bryce returns to the orthopedic office for x-rays to see if the surgery he had last November did what it was supposed to do in helping his hips. Hopefully they have moved back into place and he will be done with that type of surgery for the time being. Please pray with us that it has!

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!

Saturday, April 2, 2011

Back to School!

After almost 1 and a half months, Bryce finally returned to school this past week. Between sickness and Spring Break, it has been a long time. He was very excited to go back! The school has hired a new aide to work one on one with him. Her name is Anja and she seems very nice.

This picture was taken on William's birthday. Bryce loves lit candles and the birthday song...no matter who they are for! I love his smile.




On the last day of Spring Break I took the kids to the park. Annalise was so excited to walk.
Using her little stroller as a walker, she does pretty well. She walked around for almost an hour. She was pretty tired and in some pain that afternoon, but boy did she have fun walking!

We're still waiting on most of her test results. One has come back that was slightly elevated, which indicates that she may have issues with her immune system in the future, and one has come back normal. There are still 4 results that we are waiting on. These are the gene tests which are testing for AGS.

Here is a great quote that I came across the other day:
Let go of the life that you have planned, to accept the life that is waiting for you!