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 (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. 

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!