Friday, June 24, 2011

Good-bye Elaina Faith

Today the world lost a beautiful girl to leukodystrophy.  She had AGS which is what we believe Bryce and Annalise have.  Although we have never met her in person, she has touched our lives.   My heart goes out to her parents and brothers and all who knew her.    She will be missed here on Earth, but now she can continue the fight against Leukodystrophy from the other side where she is able to run, dance, play, and continue to smile.  Enjoy your new freedom sweet girl!

Thursday, June 16, 2011

Therapy Day

Whew, we are finally finished with therapies for today.  Between Bryce and Annalise, we had 3 therapies, one evaluation for Occupational therapy for Annalise, and a visit from Annalise's support coordinator for some paper signing today.  It's been a long day.  I'm ready for a nap!

The great news of today is that Annalise's walker has been ordered so hopefully we will have that soon.  She will love being able to cruise around by herself again!

Sunday, June 12, 2011

Days of Regression

Here is a little bit of our current reality.  The good news first is that Bryce is holding his own pretty well.  I think that we finally have him on a pretty good mix and dosage of his spasticity medicines finally.  We (along with his spasticity/pain management doctor) have been trying a few different things to help him get through the muscle spasms and tightness that he has without making his upper body so weak that he has trouble breathing.  It's a tricky thing to accomplish, but he has been on the new amounts for about 2 weeks and seems to be doing pretty well.  He still is quite stiff and still wakes with some pain, but it is better than it has been and he seems to be doing OK with his breathing this time.  Hopefully this will work for him for a while.  I have also begun giving him small amounts of green smoothie through his feeding tube. I would like to eventually get him eating more real food through the tube instead of just the formula he is on.  It just seems like it would be better for him and I'm hoping that will eliminate the need for his daily Miralax.  I'll talk to the GI doctor and nutritionist about that during our next appointment and see how it goes.

Annalise on the other hand has had a rough week that unfortunately has resulted in some further regression.  We don't know exactly what is happening in their little bodies when this happens, but I have definitely noticed the signs.  It begins with a few days of irritability and then the weakness comes.  I don't know what exactly sets it off.  Some say immunizations although I have never noticed anything from the ones they have had. Illness and fever definitely seem to play a part.  She hasn't had any immunizations for months, but her brothers have had pink eye and little colds, so maybe she caught a slight virus that triggered this regression.  I don't really know.  She cries a lot now and wants to be held by Mom a lot of the time.  One thing that I find really interesting with her though is her intense desire to walk.  She is only able to do so now by holding on to someone's fingers and moving that way.  Even then it is very hard for her.  Even her little stroller that she has been able to use for a while is no longer able to support her well enough.  Her poor little legs cross so badly and she gets so frustrated when her legs won't just pick up and move the way they should, but she wants to walk almost constantly.  Three times this week she has woken up around 3 AM and tried to get a hold of my fingers and just kept saying, walk, walk, walk.  Finally I was able to get her back to sleep, but first thing the next morning, she would want to walk again.  So we do the best we can.  I am still hoping to get her little walker soon and hopefully it will give her enough support that she will be able to get around in that for a while.  In July we will be taking her to the Wheelchair clinic to begin the process of getting a wheelchair.

She has also become noticeably weaker in her trunk and upper body this week.  She has a very hard time playing on the floor without a lot of support to keep her up.  Crawling has become more difficult and her ability to roll over is gone.  If we sit her on the couch, she is unable to move into another position or to move off the couch without a lot of help.  She does sit well in Bryce's tumble form chair and enjoys doing puzzles or looking at books for a short time while in there.  She still loves her baths although she needs support to sit there as well.  I'm hoping to find a cheap bath chair that will give her a little support while still allowing her to move some in the water.  She will need a different high chair soon also since the booster that she uses now, no longer gives her enough support to sit up while eating.   It makes me crazy though that as soon as you put the words "special needs" in front of an item the price goes ridiculously high.  It's totally annoying.  However, it is helping us to become more creative in finding ways of making what we have work.

Annalise is still talking pretty well and learning a few signs.  It's really fun to watch her use her signs to help us understand what she wants.  She loves to "sing" songs like the Wheels on the bus, the ABC song, and Itsy, Bitsy, spider.  "I Am a Child of God" seems to help soothe her when she is upset.

She had her two year well check the end of May and the doctor thinks that an extra hour of physical therapy each week to help with her spasticity would be good.  We are in the process of getting all of that approved.  With that and her new Occupational Therapy (which should be starting this Thursday), we will be up to a total of 7 hours of therapy/week between she and Bryce.   She will also be going back next month for a weight check since that seemed to level off a little bit this time as well.  Her head and length are still growing well though, so that is a good thing.

I came across a scripture today that seemed to jump out at me.  It is  Luke 8:50 ‎"Fear not: believe only, and she shall be made whole."  It is so indescribably hard to watch Annalise regress and to see the pain and frustration that she is going through at this time, but it is so good to know that one day, she, Bryce, and all the children who suffer will be made whole.  That they will run again and be free from the limitations they have on this earth.  I know that angels are with her, with us, even now supporting her/us.  I truly believe this and that is what gets me through these times.  

Monday, June 6, 2011

Time for a quick update.  John was out of town all week last week for work, so I've been a little occupied lately.  Anyway, where to begin...let's start with some great news that has come as a result of many wonderful people.  The numbers are in and we have just hit our first goal of  $10,000!  Amazing!  Thank you so much to everyone who has helped us earn money for the genetic testing.  In light of all that is happening with Dr. Crow in England and the recent findings, I'm not sure what exactly we will now be needing, but I know that the money is now here whenever we need it.  Any money above and beyond what we need for testing for the kids will go toward research into a cure as well as the daily needs of these two amazing kids.  Thank you, thank you, thank you all for helping us give them the best life possible while they are here with us!

A little over a week ago, Dr. Narayanan emailed and asked me to meet him so that I could sign the consent forms from Dr. Crow to get everything started.  I went up that day, signed the papers, and had a great conversation with Dr. Narayanan.  I asked him a couple of questions and he grabbed a piece of paper and began explaining things a bit more to me.  He described more of what they are seeing in Bryce and Annalise and what they are looking for (with pictures...perfect for this visual learner!).  He showed me what Dr. Crow will be doing and explained that while Dr. Crow is working with the DNA, Dr. Narayanan is going to be working with their RNA to see what he can find and then once we get the results from England, they will be able to compare notes.  Just a few days ago I got an email from Dr. Crow saying, "We are just working up the new technique looking for deletions, and hope it will be operational in the next couple of months (sometimes these things take longer than one would wish however)", so it looks like it may be a couple of months before we have any further news.  It's all so new that they are both just trying things out and hoping to find what they are looking for.  It is amazing to be a part of this.  I am so thankful that we are working with such fantastic doctors.

As I sat listening to and learning from Dr. Narayanan, I couldn't help but feel an overwhelming feeling of how "big" this really is.  How incredible we as human beings are.  I've always believed in God and I know that he is in charge of everything that happens with us, but as I learn more about what is going on, even with just our little family, there is no doubt in my mind that we are such a small part of something so incredible and so well planned out that it is sometimes totally mind boggling.  That day I also got an overwhelming feeling that everything is as it should be.  I have no control of this situation that we are in right now...and it is OK, because our Father in Heaven does have control and he can see the big picture while I only see a very tiny piece of it.  I know that we are continually being guided through this journey called life!