Just got an email from Dr. Narayanan saying that Bryce and Annalise's forms and blood samples have arrived in England.  Hopefully we will hear more soon!

Doing Better

It's been a few days and I thought I should let you all know that Bryce is doing much better.  He ran a low grade fever on Wednesday, but after taking a 4&1/2 hour nap in his chair, he woke up happy and fever free.  He continues to struggle with a small cough and is a little more tired than normal, but other than that he seems fine.

After he had been asleep for about an hour today, I heard him cry a little so I went in to check on him.  He just looked so cute and I couldn't help climbing into the bed next to him so that I could snuggle him for just a few minutes.  He curled right into me and looked up at me and grinned.  I loved that moment!  I then asked him if he wanted to get up and he shook his head just slightly from side to side so I asked him if he wanted to sleep a little longer.  He put his eyes up...which is his way of saying "yes" and then curled into me again and fell back to sleep.    So sweet.  I just love that boy and I just live for moments like that!

Change of Weather, Change of Health

The weather here has definitely become the nasty hot that we as Arizonans endure so that we can have beautiful weather throughout the rest of the year.  (At least that is how I see it!)  We have had some amazing Thunder storms the last few nights and the rain has been wonderful.  However, the change in weather wreaks havoc on my poor little one's bodies.  First of all the thunder and lightning terrifies Bryce so he and I have spent some quality time together through the night cuddling, counting, and singing to get through the storms.  The change in the weather also seems to affect their spasticity and causes their muscles to become tighter and more painful.  We do lots of stretching, massage, and of course pain medicine during these times.

The scariest symptom of weather change for Bryce is croup.  The wind, the dust, and the rain seem to bring it on every time.  Last night we ended up heading to the ER with him.  Just as I was heading to bed, he woke with croup and after doing all the "normal" things we do to help, he was still having a lot of trouble breathing and was still a bit blue.  We had our neighbor come over and John, Bryce, and I loaded up and started heading to the hospital.  As we drove, Bryce's breathing became a little lighter and he was able to relax some.  His color came back and by the time we got there, he was not struggling as much.  After seeing all the other people in the ER, we decided to just sit out in the humidity a little longer and see if Bryce would continue to breathe better on his own.  Luckily he did and we decided that it would be better to take him back home and continue with our own breathing therapies rather then take him in and expose him to something else in the waiting room.  We prayed some more, hoped it was the right decision, and headed home.

He and I spend the rest of the night sleeping upright on the couch.  Luckily he made it through without too many more issues and he seems to be even better this morning.  He is still pretty croupy, but at least he is breathing better.  He was scheduled to get new AFO's this morning since he has outgrown his others, but I changed that appointment and hope to just spend the day here and maybe get a little nap in this afternoon!

Still Waiting

Today Bryce and Annalise had an appointment with their neurologist.  I was anxious to see if he had heard anything from Professor Crow in England.  Well, he hasn't, but the reason he hasn't is what has me a little perturbed tonight.  The consent forms that I rushed in to sign over a month ago and the samples of the DNA have not yet been sent to England!  UGH!  He had a few different reasons for not having sent them, but the result is the same...nothing has been happening in the past month while we have been sitting here anxiously waiting for some word from England.  Dr. Narayanan said that he will send it off this week, so hopefully that is the case.

I guess I can't say that nothing has been happening since Dr. N and his team have taken a look at the RNA and compared the strands, but were not able to see any discrepancies in them.  He wasn't sure that this method would work, but gave it a shot anyway.  Hopefully now, he will just send off the info so that Dr. Crow can have a stab and it.  Sometimes I wonder if we will ever really know for sure what is going on with our little ones.  Kind of discouraging.

While we were at the office, Dr. N did put in a referral for Annalise at the wheelchair clinic and also with a speech therapist there for a feeding evaluation and swallow study.  I am so not looking forward to start swallow studies with her.  They were always horrible for Bryce.  She is having a harder time with chewing and swallowing though, so I guess it is best to check and make sure there is no aspirating going on.  I will be taking her in on Friday for a weight check as well since her weight gain had slowed a bit at her 2 year well check.  Hopefully she has gained and everything will go well with the swallow study so that we can continue on as we are in that area.

While waiting for the doctor today and throughout the appointment, Annalise kept wanting to "walk" around and Bryce wanted out of his chair and was super squirmy.  I was so glad that my sister had met me there to help.  When my sister brought out her phone to help entertain them, they both started squawking because Bryce was trying to see and Annalise wanted to hold it.    Dr. Narayanan at one point commented on how full of energy Bryce was and I thought again of how frustrating it must be for him to have all the energy and desires of a 4 yr old locked up in a body that he cannot use to move, run, or even speak.  It seriously is so unfair to him.  While walking the halls with Annalise, I saw a couple of 4 yr old twin boys playing together and laughing while their mom tried to keep them quiet and in one place.  They were having so much fun together.  The reality of what my boy is missing out on really hits when I see others his age and realize what he should be doing at this time in his life.  It's strange to imagine what he would say and do if only he was able to.

Good-bye Elaina Faith

Today the world lost a beautiful girl to leukodystrophy.  http://www.elainassmiles.org  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!

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!

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.