Sunday, April 6, 2014

A Fluke?

Well, it looks like the fact that Bryce was telling time may not have been real after all.  Since that week they have worked with him some more on time telling and it appears that 1:00 is the only time on the clock that he consistently answers correctly.  1:00 is an important time to him though because at school, that is the time when the "work" part of the day is over and the social part begins.  Go figure!  :)
His teachers have decided to hold off a while longer before working any more on telling time which is fine with me.  They will still present it to him occassionally and see what they get, but obviously not try to push anything.  However, until that time they will continue working on the other things that he is catching on to.

Reading is one of those things.  He is learning site words...knows about 22 as of now I believe.  He is reading (silently of course) phrases/sentences using these words and then successfully matching them to the correct picture given an option of two. 

According to the report I get home each week, he has been completing "I see a ......" sentences based on a picture shown.  For example, if they show him a picture of a yellow ball, he will then choose, using eye gaze, the correct words to match the picture to complete the  "I see" sentence. 

In math, he is adding two groups of items together and choosing the correct answer most of the time.  He is also able to sort items by small, medium, and large.

He and Annalise both have begun Music therapy at school and are LOVING it.  I knew they would.  One of my favorite things is to hear Bryce "sing" along to songs while we are in the car.  I need to get some video of him singing one of the songs from Frozen or our Vocal Point CD.  He definitely has his favorites!

Friday, March 21, 2014

Telling Time?

Bryce has been holding out on us again.  Or maybe (obviously) I just haven't asked him the right questions to find out what he knows.  I learned this morning of something else Bryce is able to do.  He can tell time!  I knew that he would watch the clock and know when it was time for recess or something like that, but he could have just known what the clock looked like when it was that time...since it is the same every day.  I've wondered about this!

Well, today his Para at school said that she has been working with him and she now knows that he is able to actually tell time!  She has been holding up a clock, setting it to a certain time, 1:00, 3:00, etc, and asking him what time it is.  She then lets him choose (with his eyes) from multiple options.  She said that he has answered correctly with every one of the "on the hour" times that she has asked of him.  Every single time!  She did say that he made a couple of mistakes on things like 1:30, 3:30, etc, but otherwise got every other one correct!  She has just done on the hour and half hour so far, but who knows how much more that boys knows.  I'm guessing it's a lot!

What really amazes me is that no one has ever sat down and taught him how to tell time.  He just knows!  He has just picked it up by observing and listening to what is going on around him I guess. 

Unbelievable, okay, not really, but I am just so thrilled to know that his brain is working as well as I have always thought it was.  I love that someone outside of our home is actually discovering this and continues to find new ways to challenge him and discover what he knows.  

I cannot wait for this boy to get home from school so he can show off for me as well!  :)


Monday, March 10, 2014

Fashion Show Fundraiser

March 15th!  It's less than a week away!


I have to tell you, the goodness of people never ceases to amaze me.  A while back I got a call from my friend Luhanna Chesley.  She said that she, and her Mary Kay director, Linda Christenson, want to do a Mary Kay Fashion Show Fundraiser to earn money for Bryce and Annalise.  Linda is from California and will be coming to Arizona on March 15th just to do this fundraiser for our children.  She is also planning to do one in California as well.  Here is the information on the one here in Arizona.   We will be there with Bryce and Annalise.  Anyone and everyone is welcome to come! 
When:  Saturday March 15th at 1pm.
Where:  8220 E. Garfield St.  Scottsdale, Az.
Cost:  $10 at the door.  
There will be an awesome door prize, and other raffle prizes to be won!
The audience will be the judges, so we need as many people as possible to help cheer on their favorite model.  

I wasn't sure what to say when Luhanna approached me about this fundraiser.  It's a pride thing I guess, but it is hard to accept money from other people and to know that they are putting so much of their time toward helping our children/family when I know that there are so many other families out there who are in greater need and who go through so much more than our family does.  The volunteer models are regular people just like me and you who are giving up their own time to help our children.  Most have never met Bryce, Annalise, or anyone in our family and yet they want to help us.  Wow!  It's just amazing to me.

Luhanna has put my mind at ease through this process and made it a breeze for us.  I am so very, very thankful to Luhanna, Linda, and all of the people who are volunteering as models in an effort to raise money to help with our children's daily care.  Every bit of money that is raised during these fundraisers will go toward the daily costs of caring for Bryce and Annalise including feeding supplies, therapy supplies, durable medical equipment, medical supplies (that are not covered by insurance), and maybe even an adapted toy or two for Bryce.

Again, we are so, so very thankful to everyone who is working so hard to make this fundraiser a success.  I know that I will not even get to meet or thank most of you personally, but I hope that you know how much we appreciate every bit of time, money, thoughts, and prayers that are spent and said in behalf of our children.  We are very blessed!  Thank you!

Sunday, January 26, 2014

Month Full of Dr. Visits

Annalise and Bryce each have their own way of entertaining themselves while waiting for the doctors.  These pictures were taken while we were waiting for the Physical Medicine doctor.  Annalise had fun creating a puzzle with the blocks and Bryce had fun trying to kick over the bucket that held the blocks that Annalise was playing with.  He would kick it over and over and just thought it was the funniest thing. 
This is part of the mural that is going up on the walls of the new CRS building in Phoenix.  Annalise picked out this hot air balloon with Mickey on it right away.   They both love anything Disney.

Bryce and Annalise have had a very busy month.  In this month alone, Annalise has had 7 scheduled appointments and Bryce has had 3.   Unfortunately a couple of these appointments have led to other appointments being scheduled.

At every appointment that Annalise has had, she asked if the doctor was going to look in her ear.  Ever since her horrible ordeal in November, she is scared to death of having anyone look in her ears, for fear that it is going to cause a lot of pain.

One of these appointments was with the gastroenterologist.  There we found that Annalise had lost a couple of ounces and Bryce had gained a couple of ounces.  She now weighs 30 pounds and he weighs just over 40.  I wasn't surprised that Annalise had lost a little bit since she was so sick last November and really didn't eat much for about 3 weeks.  I was actually very glad that she had not lost more considering I have recently stopped using the pediasure they have had her on for so long now.  We are really trying to feed her more of the diet that I give Bryce since that seems to be helping him so much.  She is still eating by mouth and loves the taste of all things sweet so it is a little more tricky than it is with Bryce, but getting rid of two cans of chemical sugar water a day should help some.

Dr. McOmber scheduled a swallow study for Annalise just to check and make sure that she is still not aspirating food when she eats.  It has been pretty routine for her, every 6 months, over the last couple of years just as a precaution since eating/drinking has become more difficult for her as she fatigues easily.  Her studies have all been normal and I haven't noticed any new difficulties for her, so I figured this one would be the same.  It wasn't quite.

Annalise did a great job.  She sat up in the chair and ate all the cherry flavored barium food and drink they gave her...even asking if she could take the rest of the cookie with her.  Gross!  Okay, whatever.  She enjoyed watching herself swallow on the x-ray screen.  It was very different than Bryce's ever were.  He is always scared to death of all of it and cries through the entire study.  I always dreaded them, so it was nice that Annalise seemed to thoroughly enjoy herself.  Anyway, luckily there were no signs of aspiration, but this time around they did see a fair amount of penetration going on, which is basically when food or liquid does go into the trachea but stays above the vocal cords and then eventually (hopefully) moves to the correct place.  We will see what the doctor has to say about all of that this coming week. 
 This is the marble wall at PCH Mesa Campus.  Annalise had fun trying to count all the marbles.  I asked her how many she thought were there and she said, "ummm, maybe 30 teen!"


As for Bryce, our neurologist is concerned about the number of apnea episodes that he has been having and is wondering if possibly he is having some reflux that may be causing them.  We talked this over with Dr. McOmber and he agreed that this could be a possibility.  He is going to do a procedure that will measure the amount of reflux that is occurring in Bryce during a 48 hour period.  Since he will need to put him under to do this and since we had an appointment scheduled the following week with the pulmonologist , Dr. M decided to wait until that appointment to see if Dr. Woodward needed to check anything that would require anesthesia. The fewer times he has to be put under, the better.  Dr. Woodward does not, so we should be hearing from Dr. M's office soon to set up that appointment.

The pulmonologist does however want to do another sleep study for Bryce to check on the amount of apnea episodes he has during the night, how long they last, what type they are, etc.  Dr. N was glad to hear that we will be doing that because as part of the sleep study they attach electrodes to Bryce's head that will help us get another look at any seizure activity that might be going on.  So it will be good to check that out again as well. 

Outside of appointments, we have had some fun.  Yesterday was Bryce's Birthday.  I can't believe he is 7 years old.  It was a really low key birthday this year, but it did include singing the birthday song and lighting the candles many, many times since those are his very favorite part of a birthday celebration! 


Happy Birthday my big boy!

Tuesday, November 26, 2013

Crashing the System

Bryce and Annalise had their neurology appointment last Thursday.  I was hopeful, but not holding my breath for more information about the genetic sequencing being done by TGen.  Dr. Narayanan talked with Bryce and Annalise for a few minutes and caught up briefly with me on what has been going on with them lately.  Then he said, "Well, I want you to know we have not forgotten about your family.  The scientists at TGen are working really hard to get us some information."  As he sat down, he became a bit more serious and continued to tell me what has been going on over there.

Let me back up just a bit.  About a month and a half ago I had gotten a message from Dr. N  saying that there had been a glitch in getting our family's information all in one place.  A couple of weeks after that, I heard from one of the TGen scientists who said the same thing.  I didn't know what type of glitch they were talking about, but luckily at this appointment, Dr. N cleared things up a bit.  I'll do my best to explain!

He went into quite a bit of detail, even using the paper cover on the examining table to write things out as he explained them to me.  I will just give you the basics of what he said.   He said that TGen had first sequenced just Bryce and Annalise's exomes thinking that they would find something new along the AGS lines.  They only found what we already knew.  Next they sequenced John, since he is also a carrier of AGS, and put the information from the three of them together to look for anything new.  Nothing.  Next they tried sequencing me and one of our other children and adding us to the mix.  Still nothing.

While waiting for our appointment, Bryce entertained himself by pulling the cord out of this machine over and over again.  He would laugh every time he got it out.

At that point, Dr. N told them to basically stop beating around the bush and just to sequence the rest of our family's genomes so that  they could map it all out together.   So, that is what  they did...or at least tried to do.  The sequencing part of it went fine.  Then they tried to enter every one's information into the machine/computer (I'm not sure what it is) so that it could map everything together.  When they did that, the entire system crashed.  Yes, our family crashed TGen's million dollar machines.  Oops!  After multiple tries and multiple crashes, they decided that they may need to re-sequence everyone at the same time and then try again.  Basically, they would have to start completely over.  As they were getting ready to do this, one of the scientists came running out yelling that he had gotten it to go through!  Hallelujah!   I'm sure they were all very relieved!

That was about 2 weeks ago.  Since that time, they have gotten the results of the mapping back.  Dr. N went over how they narrow it all down, etc.  I won't go into that, but I will tell you what they know as of now.  They found about 10 gene pairs, or mutations (I think that is what they call them) that Bryce and Annalise have in common and that the rest of us do not have.

Once they get to that point, they look a those gene mutations and see what condition is connected in some way with these particular genes.  Then they are able to make a sure diagnoses.  Well, that is the way it is supposed to work.  However, in Bryce and Annalise's case, there is not one of those mutations that matches up to any known disorder that are in their database!  Yes, Bryce and Annalise very possibly have something that has not even been discovered yet.  I knew that was possible, but I didn't really believe that would be the case!

So, where do we go from here?  Well, TGen and Dr. N are now in the process of searching Data base's from all over the world to see if they can find any record of other people who have any of these gene mutations and symptoms similar to those of Bryce and Annalise.

 
We discussed the possibility of it being something caused by environmental factors, foods, or certain chemicals.  Because of the onset of their symptoms, it is very highly unlikely that this is caused strictly by an environmental factor.  (He told me of  a strange case he worked on where white matter depletion was caused by an environmental factor...weird stuff!)  He said that it could be that the combination of the mutated AGS gene and one of these other 10 mutations causes the symptoms that we are seeing.  It is possible that it may be an undiscovered form of AGS.  We just don't know at this point!

There are a few things that we do seem to know about "Bryce's syndrome"  as I've called it from the beginning.  We know that (at least in our 2 children) onset of the disease is at about 17 months of age with the child developing normally until that point.  We know that there is an initial period of rapid regression that begins with pain, irritability and possibly a mild illness.  We know that it affects the immune system.  We know that it causes trouble with inflammation and "lupus like" conditions.  We know that it causes "seizure like" activity.  We know that there are periods of rapid regression and periods of plateaus.  We know that it causes a child to have an extreme startle reflex and tonic neck reflex. We know that it causes central apnea as well as obstructive apnea.  Apnea episodes occur while the child is awake as well as while he is asleep.  We know that it causes spasticity  throughout the body.  Change in weather seems to increase the amount of pain caused by that spasticity.  We know that there is pain (in addition to the pain caused by the spasticity), although we are not sure exactly where that pain is coming from or what triggers the pain.  It is not constant pain, but random.  It appears that illness and fevers, even minor ones can cause severe fatigue and regression, some being temporary and some being permanent.  Good nutrition seems to be vital for maintaining, and possibly improving, their health, strength, and abilities.  Cognition does not seem to be affected.  Bryce and Annalise are very smart.  They are aware of everything that goes on around them.  Aside from their physical and neurological limitations, they are very much like other children their age.  

There are a few other things I have observed over the years with them, but I don't know if they really have anything to do with their condition or not.  Really, we just don't know a whole lot about what is going on with them and we have no idea what tomorrow or the next day, or any day into the future holds for them.  We have no idea how long they will be here with us.  It could be months or it could be many, many years.  Bryce and Annalise will continue to teach us as they continue to live their lives and take on their daily challenges like the warriors that they are. 


Dr. N assured me that he is not finished searching yet and that something may very possibly still turn up somewhere in someone's data base of information.  Only time will tell.  Until that day, we will continue to live life to the fullest and enjoy every moment of every day with each of our children. 

Thursday, November 21, 2013

Latest Happenings

So much has been going on lately.  I'm going to see if I can sum things up in a nutshell for you all here.

Bryce continues to do amazingly well.  He continues to do things that we never thought we would see him do again.

 5 minutes with his head held high! 

 
Um, Yes...that is Bryce SITTING on his own.  Sitting was the first ability that he lost over 5 years ago!   I honestly never thought I would see this day!  Miracles do happen!



A little motivation goes a long way!

Just a couple of kids hanging out watching My Little Pony videos.




The only real issues we are having at this time are his vomiting episodes over the past few months, the increase of apnea episodes over the past few weeks, and seizure like activity that we are keeping an eye on.  We don't know what is causing either of these things to occur.

The vomiting issues began about 8 months ago.  Within this time he has had 7 vomiting episodes.  The episodes are strange because of the timing of things.  It goes kind of like this:  Around either 9:30am or 2:30pm, Bryce begins vomiting without warning.  This continues for about 4 hours with him vomiting about every 8-15 minutes.  The first 2-3 times are quite violent and bring up his most recent meal.  Then it turns to just mucus type stuff that he is vomiting and, during the last 5 episodes, he also vomited blood.  He becomes pale and lethargic very quickly and has to be suctioned each time he vomits since he is not strong enough to "get it all out" on his own and will begin choking easily.   Because it comes on so suddenly and he needs suctioning almost immediately, we now carry his suction machine around with him everywhere he goes.  During the night, Bryce moans and seems to be very uncomfortable.  About 1 in the morning, he begins running a low grade fever, around 101.  That continues until about 10:00 the following morning.  That entire day, Bryce is very lethargic and continues to appear to be in pain.  He sleeps most of the day and has no interest in what is going on around him.  That night, he sleeps fine and wakes the following morning good as new!  He is then fine until the next episode occurs.  No one else in the house gets sick, so we have ruled out a stomach flu.  Cyclic Vomiting Syndrome, among other things, is being considered.   For my own record, here are the dates of these episodes:

March 29
April 22
May 17
July 18
Sept 2
Sept 19
Sept 28

The apnea episodes are something he has dealt with for years.  He used to have them quite often, then he went for a period of time (almost a year) with only a few here and there.  Unfortunately, they have become quite frequent again.  These are times where he seems to stop breathing for a short period of time.  Scary stuff!

Well, this post seems long enough for tonight.  I will continue with Annalise's latest happenings and the latest in our genetic sequencing adventure soon.  Good night all!

Wednesday, September 25, 2013

Annalise Walks!

Today Annalise took her first steps for the second time in her life.  At the age of 17 months Annalise was walking very well.  In fact, she had just begun to run.  Then suddenly, she began to lose her balance and before long, she was no longer able to walk without support.  She began using doll strollers to help her balance and walk.  Soon that became too difficult as well and she began walking with a walker.

She has been working really hard for months on being able to stand without assistance.  In just the last couple of months, she has gone from only being able to stand for about 10 seconds to now being able to stand up to about 3 minutes at a time.  Today her PT Lauren was here working with her and so was Lauren's supervisor, Ray.  We were talking about the things she is now able to do and he suggested we see how she would do if we asked her to walk.  So he did and she tried to take off really fast.  She didn't get more than about a half a step before falling into Lauren.  Then Ray explained to her that she should try just taking one step and then find her balance and then take another step.  To go really slow, like a turtle.  So she did.  She ended up taking up to 7 consecutive steps while walking today.

By the end of the session, she was very tired, but she was very happy as well.  I was also very happy and I will admit, still in a little shock.

Now for those of you who know about Annalise's journey, you know that medically this is not supposed to happen.  We have believed for years that she and Bryce had Leukodystrophy and that once the skills were lost, they would never be regained!  Well, it appears that God and Annalise have other plans!  Today we truly witnessed a miracle.

To see some very cool videos of Annalise's first steps join us on Facebook