Wednesday, May 22, 2013

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!

Tuesday, May 21, 2013

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!

Wednesday, May 1, 2013

Genetic Testing update

I realized that I had not shared the latest information that I have received from Dr. Narayanan, Bryce and Annalise's neurologist.   This news came about two weeks ago.  First going back just a bit further since I can't remember if I shared this info here or not, a 6th gene mutation that causes AGS has been found.  When Dr. Narayanan met with John and I on a Saturday morning after sending this email to give us the updates on the genome sequencing to that point and explain things a little more, he told us that he had heard about this from Dr. Crow.  As soon as he found out about it, he quickly tested Bryce and Annalise for that mutation.  The test came back negative.  They do not have that mutation.  The other news that we received that day was that so far, all that has been found through the testing is that they do have the one mutation in SAMHD1 or AGS5, but nothing else has been found.  So, basically so far they have discovered what we already knew.  They will continue to search.

I received an email just a couple of weeks ago in which Dr. Narayanan told me that there at TGen where they are doing Bryce and Annalise's genome sequencing, they now have a small collection of AGS patients.  He went on to tell me that they have confirmed the genetic basis of the disease in all of the cases except for Annalise and Bryce.  He said that they will continue working to figure out what is going on with our children.