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 (ha ha) 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. 

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!

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

Visit From Dr. Narayanan

I just wanted to let you know that while we were staying at the Ryan House this past Thursday night, Dr. Narayanan stopped by to give us a quick update on where we are with the sequencing.  He said that he continually bugs the team to get the results to him ASAP.  I truly think that the TGen team will be very glad once our sequencing is finished.  :)  Anyway, Dr. N said that the current sequencing is complete and the team was working on getting all of the data compiled onto a one page spreadsheet.  Dr. N told them that he would like to have it done by Friday (yesterday) night so that he could take it home with him and begin analyzing it over the weekend.

That is all the news that I have so far, but I just thought I would let you know.  Hopefully soon we will have some more news/information.   We continue to pray for positive results!

Annalise's Results

Last Friday, Annalise had her MRI tests.  A couple of hours ago, I got an email from Dr. Narayanan.  Seriously, does that man ever sleep?  Anyway, here is the official report he got from the radiologist:

MRI is normal, MRA is normal, and MRS (spectroscopy) is normal.

Yes, you read that right.  Normal, Normal, and Normal!  Fantastic news, right?  Yes!  It is, don't get me wrong.  I am thrilled that, like Bryce, she too has shown progress in her myelination.  It gives me a new hope (again) that maybe our children don't have anything seriously wrong with them.  That maybe there is an easy answer and maybe even a cure!  I want to hold on to this hope, to not think any further.

But then I look around and the frustration sets in.  I want so badly to believe that everything is NORMAL with our children, but if this is the case, why is Bryce in a wheelchair, why can he no longer chew, suck, and swallow correctly, why does he stop breathing at times, why does he have to speak with me using his eyes instead of words,  why is he lying on the floor or sitting in a special supportive chair while watching his brothers run, ride their bikes, play ball, play video games and all the other things a NORMAL 6 year old boy would be doing?   Why do I still have two children in diapers?  Why is my daughter unable to run like she used to, why is it getting harder to understand her words instead of easier, why does she wake in the night because of pain and the inability to roll herself over or to get in and out of bed on her own like any NORMAL 4 year old can?

If everything is normal, why is it not?

Dr. N went on to share his thoughts:

"When I look at the MRI - I still have the feeling that there is some problem with the pace of myelin development.  There has definitely been some progress in myelination between 18 months and now; but just not at the normal rate I think.
This is also the same feeling I had when reviewing Bryce's latest MRI.  There is also the report compared to his prior MRI which suggested delay in myelination.  They say that the myelination patter is symmetric, and improved.  They also noted subtle prominence of the cerebellar folia (spaces between the ridges of the cerebellum).

I think this takes us out of the Aicardi-Goutieres syndrome group of disorders.  All the other classical leukodystrophies have been ruled out.  Still can't ignore the mild elevation in CSF neopterin in Annalise.Clinically, they both look like they have some white matter disorder."

He went on to tell me that he has one more hunch and will have to do some work to figure this out.  Didn't tell me what that hunch is, which of course makes me crazy curious and yet at the same time I don't want to know what he is thinking or I will research something else for hours and hours only to find out that it leads to another dead end.  He says that he thinks the best shot is to wait until the exomes on me and John are completed and then we will have a better idea.  I think he is right.  Hopefully this will be available in the next few weeks, he says.  I hope he is right.

I want to stay positive.  I'm trying, I really am.  I don't want to sound negative because the news that we have gotten about the myelin truly is wonderful news!  Definitely a blessing!  I am so thankful that this is what is happening in our children's brains.  

We truly have been blessed with a wonderful man as our children's neurologist.  He is working so hard and coming up short and never giving up.  Even though in so many ways, it feels like we are still so far away from knowing what is going on with our children, there is a part of me that believes the answers are right in front of us.  I can feel it!  If only we knew how to reach out and grab them.  

I know that when the time is right we will know.  I know that the Lord knows.  I know that we have family and friends on the other side helping us...both in finding the answers to our mystery and in helping us be patient until that time comes.  I definitely cannot see the whole picture.  I don't understand why our children have to go through all of this...especially if we do find out that it is something that can be solved, that with some small thing our children can be healed.  Wouldn't that be wonderful!  Oh how I hope and pray that this is the answer that we finally, someday soon will be given.  

We have been talking for a while now about looking into Make-a-Wish for Annalise.  Bryce had his wish granted back in 2010, one month before Annalise was "diagnosed".  It was wonderful and truly a blessing to Bryce as well as the rest of our family.  Something we will cherish forever!  Annalise loves Micky Mouse.  She loves water.  She talks about swimming with dolphins.  I think we will hold off just a bit longer.  Who knows, maybe she won't even qualify for a wish!  Wouldn't that be crazy...and wonderful!

All I know is that through this journey I have met some incredible people.  People who, very likely, I never would have met otherwise.  I have learned things that I never would have learned.  I have become a person who I never would have become without this part of my life.  My husband and all of our children have done the same.  I feel like everyday, even as I continue to learn, the less I know.  One thing I do know for certain though is that there is something so much bigger than us out there.  I know that we have a loving Heavenly Father who is fully aware of who we are and what we need.  There is a plan and every single one of us has a very important role in that plan.   

Not Leukodystrophy

Okay, I know I said in my very last post that I was not going to be continuing with this blog.  Guess what?  I have changed my mind.  I need to continue with the updates on our quest here on this blog...at least until we have some answers.  I will keep the facebook page going because it is a great place for quick day to day updates, pictures, and videos.  This blog will be used more specifically for updates and news on the actual journey to find answers to this mystery.  Then our family blog will be used for, well, everything, including more of my thoughts and feeling on the information I post here!  

So, on to the latest updates.  Bryce had an MRI/MRA last Wednesday.  Thursday morning when I woke up, I found that I had an email from Dr. Narayanan.  He had compared this MRI/MRA to the MRI's done in 2008 and 2010.  He had also read the official report.  He let me know that the MRA was totally normal.  Great news!  This was the first MRA Bryce has had done, so it was good to know that everything looked good on that.

Then things got interesting.  He said that the report stated that the MRI did not show significant abnormalities in myelin, and showed signs of continued myelination!  That is huge.  Do you know what that means?  Somehow, Bryce's brain is actually growing myelin again!   Awesome!   Totally unexpected, but awesome!

Another comment was that the folia in the cerebellar hemispheres were slightly more prominent than before-these are like the sulci in the brain.  I had to google that one and ask some additional questions of Dr. N, but yeah, it appears that this is good news too.

Then Dr. N shared his feeling on the results:

1)  Even though the myelination is improving, it doesn't quite look like it should for a 6 year old.
2)  Not a Leukodystrophy
3)  Still waiting on exomes from the rest of the family.

He then kind of thought out loud for a bit and said, "back to the drawing board".  He asked me to contact our pediatrician and get all of the neurology consultation notes from before Nov. 2010.  He is going to start again from the beginning, rethink through everything, and look at all the data again.

Since this email left me with a few new questions, I emailed Dr. N and got another email back.  I'm posting it here, because it is full of information and helped to explain a bit more of what is happening with Dr. N and the sequencing at TGen.

Dear Tammy:
The latest from TGen.
1.  In the first sequencing runs (whole exome sequencing) they did Bryce and Annalise.  They identified the same SAMHD1 variant that we knew about already.
2.  Based on our feeling that this was too much of a coincidence (clinical suspicion of AGS, elevated neopterin in Annalise; absence of calcifications), we decided that the next step was to see if there was a difference in the expression of the SAMHD1 genes (levels) between dad and the two affected children. We chose dad, because he also has the one SAMHD1 variant.  The idea was that if in the children, the levels of normal SAMHD1 was way low, then this could be why they had symptoms of white matter disorder, without us finding a second mutation.  The RNA sequencing on dad, and two affected children is done; still being analyzed, but a quick look at SAMHD1 levels shows that they have normal levels of the copy that they inherited from you (mom).  so this is not the answer.
3.  We had planned on sequencing (whole exome) mom, dad, and one unaffected sibling.  The preparation has been done, and they will go onto the machine next week, and we should have results in 3-4 weeks.  When we get this, we will analyze the entire family from scratch - without a preconceived notion that this might be AGS or might be linked to the SAMHD1 variant.  Just that it is autosomal recessive, and causes spasticity.
4.  The MRI result on Bryce just makes me question everything - including the idea that this is AGS; it doesn't look like a classical leukodystrophy. But his symptoms with loss of skills, spasticity, fits the AGS model.  Maybe something new.

I have to study this all over again, and having my early notes will help me.
I hope I am explaining things clearly to you.
Hopefully, we'll have more data in 3-4 weeks, and we'll get another attack at solving this puzzle
Vinodh

So there you have it.  You know as much as I know.

Exactly 5 years from the day Bryce began showing symptoms of regression (July 2008), we are back at square one.  The journey is long.  The mystery continues...

Time for Change

I've been thinking about this for a while and I think it is time to make a slight change.  As many of you know, in addition to this blog for Bryce and Annalise, we have a blog for our entire family.  As many of you also know, I have not been doing a very good job of keeping both of these blogs updated like I would like to.  I also feel like the things that I post on this blog belong on our family blog as well since that is basically my journal of our family.  So, as part of my attempt to simplify my life, I am (at least for now) going back to just keeping one blog going.  It will be the one at www.lifeontheclaytonfarm.blogspot.com   I will be continuing to update Bryce and Annalise's journey there as well as the rest of our family's adventures.  For any of you who would like to follow our family there, we would love to have you.

Another way to follow Bryce and Annalise on their journey (without having to read all about the Ho Hum activities of daily Clayton life), is to join the new group on facebook, Clayton's Quest.  I will be using this group page to share brief updates and news about Bryce and Annalise.  Just a warning though, the Clayton Quest group on facebook will include the good, the bad, the happy, and the sad of our journey.  I know some people don't like to hear about the hard/sad things that happen sometimes, but this is our reality and the reality of so many of our friends, so the posts in this group may not all be smiles and sunshine.  Although considering it is a page about Mr. smiles himself and his adorable sister, I'm sure there will be plenty of smiles and sunshine to share!

I plan to leave this blog open and maybe still write on it occasionally, but for now, I need to just have one blog for our entire family as my ongoing journal.  As always, we are so thankful for all of you, your support for Bryce, Annalise, and our entire family, your prayers, well wishes, and all of your heartfelt comments.  Thank you!  We are excited to "see" you soon!

www.lifeontheclaytonfarm.blogspot.com
https://www.facebook.com/groups/401948456587333/

Bryce's Own Option

Ha ha!  Leave it to Bryce to find another option.  If you read my post from last night, you know I was hoping for another option.  Well, in typical Bryce fashion, he has found another one...kind of.

I received an email from Dr. N this evening.  (Yes, on a Saturday.  Any other doctor, that would surprise me...Dr. N...not so much!)  He had a chance to take a look at Bryce's EEG.  I nervously read the email which included this about what he saw:


1)      Mild diffuse background slowing – this is consistent with a diffuse process, such as a white matter disorder; nothing specific
2)      Frequent right central-temporal spike discharge – this means there is a focus that is firing intermittently on the right side; does not mean that he is having seizures, but is consistent with that diagnosis.
3)      The decision about treating him is a clinical one.


He then went on to say what his initial thoughts are as far as treatment goes which will most likely include trying some type of anti-seizure medication.  He will get the official EEG report on Monday and he wants to talk with us next week.

John and I were talking about this on our date tonight.  Frequent right central-temporal spike discharge...John said it is like Bryce's left side of his brain  is tazing his right side.  :)   No wonder he stares off, sweats, and startles so easily!  We have always known that he is a little thrill seeker.  Sometimes you just have to laugh...it's often better than the alternative.

Anyway, so there you have it.  Bryce's mystery continues!  From the very first report that we got when Dr. N looked at Bryce's first MRIs back in 2009 and declared that they, "are abnormal, but not in the normal way." to today's report of he's not having seizures, but he is not NOT having seizure type activity either, Bryce remains consistent in one thing.  Choosing his own route.  He definitely keeps life interesting.

Another Option Please

We have not yet gotten the results of Bryce's EEG although I did get an email today from Dr. N asking me which hospital we went to for the test.  He said he will look up the record and let me know the results soon.  Since it is Friday night, I am guessing that will not be until Monday.  Although with Dr. N, you never know!

Anyway since Tuesday I have been thinking about what the results could be and what I am hoping for.  At first, of course I was hoping that he is not having seizures.  Honestly, seizures scare me and I really hope that is not what is happening.

But what is the alternative?  It is just my imagination and nothing is happening?  No, I'm afraid as much as I would like it to be just my over worried imagination, these episodes are real.  Something is happening.  If it is seizures, the doctor will start him on some medication to help them.  If it isn't seizures, what is it?

After hearing from a couple of friends about what their children have gone through and lots of thinking, I've come up with a couple of other possibilities.  It could be that he is having seizures, but they were not picked up on the 1 hour EEG.  So then the question is, if this one is normal, should we do a 24 hour one to be sure?

Then the other alternative which I really don't want to think about is that it may just be a sign of further progression of the disease.  More loss of the white matter, his body shutting down just a little bit more.  I don't like this alternative because there is nothing anyone can do for that.  However, when I think about it, this possibility seems all too likely.  It seems like if it were seizures, they would have been seen on the EEG a couple of years ago when he was having these episodes the first time.  Or at least they would have continued rather than showing up then and not again until almost 2 yrs later?

So really it seems to boil down to 2 options, either 1) it is seizures which means his disease is progressing, or 2) it isn't seizures but rather episodes of something more going on with the loss of white matter or in other words, signs that the disease is progressing.   I'll be honest with you...I don't like either one of these options and would really prefer another option please!  

EEG

When Bryce and I arrived at St. Joe's Hospital for Bryce's EEG this morning and went to check in at the admitting desk, we found that they had no order for him.  They asked me if I had brought one.  I told them no and that I was just told to have Bryce there by 9 this morning.  He said that he would have to do some calling around and see what had happened.  Well, it ends up that the EEG department called us to schedule an appointment but somehow forgot to send the order for it.  So...we ended up having to wait for about an hour for them to do whatever they do...write up the order, get prior approval from our insurance, etc.  For those of you who know Bryce, you know that he does not like to sit still for longer than about a half a second!  Since we had been sent to St. Joe's instead of PCH, there were no televisions with kids shows on to help entertain him either.  So I did the best I could to keep him from screaming out in boredom.  I really need to get this boy an iPad or something to take with us to appointments like this.

One of his favorite things is looking at pictures and videos of himself.  They crack him up.  So I decided to take some pictures of him.  The funny thing though is that he and his awesome little sneaky fun side threw a little curve ball into the fun.  As soon as he knew I was trying to take a picture of him, he turned away and starting laughing.  I would try to get him to look at me and he would just move into a different position, look anywhere but at me, and laugh like he was the funniest kid ever!  He doesn't have a lot of freedom of movement to do what he wants, so when he finds something he can have control of, he loves it.  He was cracking me up.  He seriously has one of the best personalities ever!

He started it off by giving me this look as if to say, "You want a picture huh?  Well, just try and make me to look at you and smile for the camera.  I dare you!"

Then he moved on to this...

Finally I think he got so tired from laughing that he finally stopped for a moment and actually looked over at me.  He is such a ham!  I just love this boy.

So after about an hour of taking pictures, walking around the hospital, holding Bryce while he twisted himself into all kinds of strange positions, and talking to multiple people who were having fun watching Bryce, they finally got everything in order and sent us upstairs to have the EEG done.  

Bryce wasn't so sure about having things stuck to his head, but he actually did really well, much better than I expected.  

The ones on the forehead were definitely the worst for him. 

 

 All wrapped up and ready for the test.

I was sitting next to him on the bed and they wanted me to keep his hands away from his head and keep his head in this position.  Again, for those of you who know Bryce, you know that he does NOT like to be still.  Explaining to him that he needed to keep his head in this position and keep his hands off of his head meant nothing to him.  Even though I'm sure he could understand what we needed him to do, he is just not able to lie still without having something to keep his smart, little mind busy.   We looked at pictures on my phone and then luckily I was able to find a video for him that helped keep him entertained.  It was also strange for me to have to keep his hands down, because until just a couple of months ago, he would not have even been able to move his hands up to touch his head.   He lost that ability within the first few months of his regression.  That is one of the things that he has regained since we started feeding him real food.  

So overall, the EEG went well.  Of course I don't know what the results of it are yet.  Hopefully I will hear from Dr. N with those results soon.  Then we will decide where we go from there.  

Busy Days

Days like yesterday make me really wish I had answers as to what is going on with our children and how to help them.  It was a very rough day for Annalise.

May was a very busy month for Bryce and Annalise.  It started with a quick weekend trip to Ryan House with Dad and their brothers while I stayed home and helped with the Finish Strong event, spent time with my mom, and taught my Sunday School class at church.  The Finish Strong event this year was to benefit some good friends of ours, the Winter's family.  It was a fantastic event and it was nice to be on the other side of it this time although I didn't really get to help as much as I would have liked to.  

Then the appointments began.  Outside of the ER trips and days of illness, the kids did have some scheduled  appointments in which we learned a few new things.  First on the 7th, Annalise had her feeding evaluation.  That was basically a waste of time.  The lady who did it was very nice, but you just can't truly see what is going on in just 10-15 minutes.  That is not how our kids work.  They can be fine one minute and struggling minutes or hours later.  I wish I had gone with my original plan to just take her to the GI, because he knows our children's story and on her request, that is where we are heading now anyway.  Thankfully, the therapist doing the evaluation did not hear anything that made her think Annalise is aspirating which is great news.  

On the 8th Bryce and Annalise had their neurology appointment.   I know I have said it before, but I will say it again, Dr. N is fantastic.  Denise Hauer went will me to help with the kids and to get some paperwork from Dr. N.  We got to the appointment about 15  minutes late.  I apologized to Dr. N and he gave me a hug and said, "No problem, we have until 10:30."  Almost 2 hours.  He had scheduled that much time to be with our children so that he could watch them and really see as much as he could and have time to answer any questions that I had.  It may seem strange that I am happy about a 2 hour appointment, but with Bryce and Annalise a lot can change in 2 hours.  It's nice when a doctor is willing to take the time to see as much as he can before telling us everything is fine, sending us for tests, or prescribing some other medicine!  Besides that, talking with Dr. N and my friend Denise for 2 hours is always nice...even if it is in an office.  Dr. N has become like a family member who just happens to be an outstanding neurologist.  A good man to have on your side!

While there, we discussed all that has been going on with Annalise.  The rapid mood swings, loss of appetite, decline in speech and speech that goes from understandable to basically incoherent within minutes, sometimes within the same sentence, the decrease in strength, etc.  Throughout our time with Dr. N, he was able to see all of what he referred to as the "complexities of Annalise's personality".  We decided that it was time to have both of the kids get another MRI since it has been about 2 & 1/2 years since their last one.  Annalise has only had one, so it will be interesting to see if there have been any changes and if so, what they are.  At the same time, both kids will be getting an MRA since it is common for children with AGS5 to develop aneurysms and we need to check for any signs of that.   He also agreed that it is time for Annalise to be seen by our gastroenterologist.  

As for Bryce, he pulled something there that he has not done in a long time.  First of all, when we first arrived and I was getting him out of the van, I noticed that he was really sweaty and clammy.  This seemed a bit odd since the air was on in the van and it really wasn't even that warm of a day, but I didn't think too much of it at the time because Bryce just does that sometimes.  

Once we got into the office, Dr. N noticed that Bryce's hypertonia has become worse.  The Orthopedic doctor noticed the same thing just a couple of weeks before.  He is increasing his baclofen with the hopes that it will not negatively effect his breathing like it has done in the past.  He also said that we may want to consider having botox done in his legs to help.   

Dr. N was impressed with the new things that Bryce is doing and seemed pleased that he is getting real food through his tube.   He asked me if Bryce has had any seizures.  I said no.  He used to have what looked like  silent seizures but he had an EEG a few years ago, when we were first noticing them, and it was normal.  We have seen a few of these episodes in Annalise as well.    

Anyway, so when it was time to go, Bryce was in his wheelchair and Dr. N came over to say good-bye to him.  Bryce didn't respond.  At first we all thought he was just ignoring him or in his own world or something, so Dr. N said good-bye again and touched Bryce's face.  Still nothing.  Denise and I looked at each other and then at Dr. N.  What was that?  Dr. N got down on Bryce's level and kept stroking his face and talking to him.  Bryce just looked ahead.  I'm sure it was just a few seconds, but it was definitely longer than any of the others we had noticed.  Then Bryce just kind of came out of it, smacking his lips some and looking around.  Then he suddenly broke into a sweat and Denise noticed that he was very clammy.   We are not sure what that was but I am so glad he did it while Denise and Dr. N were there!  So many time this type of thing happens when I am the only adult around and it is subtle enough to second guess myself and decide it is nothing, although this one was a little more than I had ever seen.  

Dr. N said to keep a close eye on him and if he did it again to call and he would set up an EEG.  So we said our good-byes and headed out.  It took us a while to walk down the hall, but before we even got out of the building, it happened again.  We didn't notice the staring off so much but all of a sudden he became sweaty and clammy.   It happened one more time after that as well.  I'm guessing that it had also happened just before we got out of the car that morning and that is why he was sweaty and clammy.  As soon as I got home I called Dr. N.  Bryce will be having an EEG done tomorrow morning.  

On a happier note, Bryce graduated from Kindergarten and Annalise has moved up to the 4 yr old preschool!  It's nice to have them around the house more, but I hope they don't get too bored this Summer.  

Last day of Kindergarten

First day of Kindergarten

May 2013

July 2012

Bryce's Big News!

Today, Bryce lost his first tooth!  We were at pack meeting.  His tooth has been loose for a while and this evening it was bleeding a little and I could see that it was very loose.  So while I was trying to figure out why he was crying, I reached in and pulled it out.  It came out very easily.  Ends up that all the crying was just because he wanted me to take him out of his chair and hold him...which I did after pulling his tooth.  He looks so sad when he cries, but all that crying made a great way to be able to get my fingers in there without getting bitten.

My baby boy is growing up!

Bryce: Trip to the ER

Wow, there is so much to update you on.  These kiddos have been busy!  I started this post a couple of days ago, got sidetracked, and before I got back to it more adventure had come our way.  Bryce became sick for the second time in a month at school this past Friday.  Last time was on Monday, April 22.  It was so sad because I was having surgery to remove some skin cancer on my nose and got a message saying that he had thrown up and needed to be picked up.  I panicked a bit, then called John.  By the time I had gotten a hold of John, the school had already called him and he had called and arranged for our respite workers to pick him up.  So nice to have good people you can count on.

Bryce ended up sleeping basically the rest of Monday, Tuesday, and all but about 3 hours on Wednesday.

Then Thursday morning he woke up and seemed fine.  He was back to himself wanting to play and not sit still.  It was so good to see his eyes and smile again.  I guess he just needed a whole lot of sleep to fight off what ever he had.

Fast forward to this past Friday.

This time it was a little different.  First of all, I was home to get the call from the school saying that Bryce had thrown up.  Although he was pretty out of it by the time I got there, it was evident that he had some extra neurological stuff going on as well.  Throwing up just takes so much out of him and can affect him in so many different ways.  On the way home he gagged and began choking.  I pulled over and within a matter of seconds (I'm sure) that felt like forever, was able to get things taken care of.  I was really wishing I had a suction machine that would work in the car.  That will definitely be a piece of equipment that we will soon be adding to our ever growing collection!

We got home and he threw up, just plain thick mucus a couple of times and then it changed.  He began choking up the mucus streaked with blood.  This has happened before and I don't worry if it is just a little bright red streaked blood because I know that this can just be caused by an irritated esophagus.  However, he then began throwing up what looked like a darker colored blood.  I began becoming concerned, but especially when it happened two more times and each time there was a little more blood involved.  (I took some pictures, but I will spare you!)  I decided I should take him in and have him checked out.  He coughed up blood filled mucus one more time before we left.

Luckily my parents are in town and they came to stay with the other kids until John got home.  My dad and my brother, Kevin, gave Bryce a priesthood blessing, and Jacob came with me in case Bryce had another apnea episode or pulled his little choking issue again while I was on the freeway.  My brother made dinner for my family.

We got to the ER and got checked in.   I am reminded of how rare our children's condition is almost every time I take my kiddos to urgent care or the ER, even if it is in a hospital where we have been multiple times like PCH.  This time was no exception.  I was asked by various nurses and doctors what Bryce's underlying condition is.  I would tell them Leukodystrophy and one of the following responses would occur.  1)  They look at me like I have two heads and made up the diagnosis and just move on.  2)  They continue on acting like they know what LD is, and then proceed to ask questions and say things that make it very obvious that they do not know anything about LD.  Or 3)  They say, now what type of Muscular Dystrophy did you say he has?  All of which happened Friday night.

They got us to a room, looked him over, got an IV in for fluids, zofran, and to draw blood for labs.  Then we waited.  Bryce was totally calm, not even responding other than to look at me briefly when they put in his IV, which to me is a huge indicator that something is not right.  That is just not Bryce!  The ER doctors/nurses see it another way.  They take his lack of crying as telling them that he is not in pain.  His rapid heart rate and high blood pressure told a different story though and finally they believed me (at least a little bit, I think) that I knew what I was talking about with my child.

They said that he was slightly dehydrated, but didn't really seem concerned about the blood.  They didn't even care to look at the pictures to see what I was talking about.  Finally a new doctor came on call and when he came in and said that he was going to finish up the paperwork and get us home, I just pulled out my phone and showed him the pictures.  I said, "so there really is no reason to worry about this?"

He looked and said, "Oh, there is blood in there!"  I think the others we had been dealing with thought I was just worried about the color.  This doctor acted like he didn't even know we had come in because our son was throwing up blood, so I'm not sure what was on the reports from the previous doctor.

By this point I wasn't sure if I should push the issue and have them check him further or just take my boy home, hope they were right about it just being a flu, and care for him the best I know how.  I decided not to push it and just get out of there.  I decided to take him home.  I knew that any healing he would receive that night would come from above due to the faith and all of the prayers being said on his behalf, not from the ER staff.

We got home about 10:30.  Bryce had very restless nights both Friday and Saturday with almost no sleep either night.  It was like his body would not let him sleep.  He was obviously in pain.  He just could not get comfortable and did not want me to be away from him.  He received another blessing from John.   He ran a low grade fever on and off for a couple of days.   Luckily he did not throw up again, although he continued to struggle with neurological issues including temperature control issues, central apnea where he "forgets" to breath, and increased spasticity, and clonus.

I'm not going to lie, we had a couple of scary days and the throwing up blood or dealing with the ER personnel was not necessarily the worst of it.  Bryce spoke to me with his eyes many times during those days.  I wish I could have understood better to know what he was going through.  He was there although he couldn't "talk" to me like I'm sure he would have liked to.  Luckily though, by late Sunday evening Bryce began responding to us a little more and by Monday morning we saw definite signs that he was on the mend.  There is nothing so wonderful and relieving to a mom's heart to see her son smile and laugh again after watching him go through what he had been going through.

Now we just wait to see if there will be any lasting effects from this illness as there always can be with these kiddos.  He is not completely back to his normal yet, but hopefully he will be soon.

Once again I am so thankful for the power of prayer!  I am thankful that prayers are answered.  I know they are not always answered in the way that we hope they will be, but this time I am thankful that ours were.  I am thankful for the many friends and family members who are so willing to help us with their kind thoughts, prayers, well wishes, kid care, meals, and just plain loving our children.  We are a very blessed family and very grateful to have our smiley guy back one more time!

Jacob stayed entertained while at the ER by playing games on the laptop.  

At about 9pm the nurse asked us if we had eaten dinner.  We told him that we hadn't, so he said he would bring something in for us.  He brought us sodas and all kinds of treats.  Jacob thought it was great.  I see how they stay in business.  Jacob drank the sprite.  I brought the coke home to use to clean my toilet.   

After a couple of days of Bryce getting all the attention, Annalise made sure to get in on the extra mommy time!

Finally getting a little sleep on Sunday morning 

His poor lips got so chapped.  Thank goodness for coconut oil, best lip balm ever!

Annalise and Bryce enjoying time together on Monday.  I love to see them smile!