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!

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.  

Stomach Flu?

Well, Bryce threw up at school yesterday and was running a fever this morning.  He has been sleeping on and off most of yesterday and today.  So, maybe Annalise just caught a little stomach bug and she just needs a little more time to recover.  It's really weird when you hope that your child JUST has the flu!  

11:45--She is finally asleep!

That was 11:45am this morning.  I'm not sure what is happening with Annalise.  I only wish I knew.  This week, she has had her ups and downs.  On Monday, she went to the dentist and did a fantastic job!  Such a big girl.

After the dentist, we made a stop by the pediatricians office to get a weight check.   Luckily she is holding on to that 3% curve by a thread!  The doctor did say that we may want to supplement her feedings with some pediasure.  She already gets 2 a day.  Even that drives me crazy because although she is getting the calories, I know it is not healthy for her.  The doctor is having us get a feeding evaluation and a swallow study done.  Then we will decide from there what direction to go.

Other than a little bit of allergy issues and some irritability, Annalise had a couple of really good days the beginning of this week.  By Thursday morning, I was almost thinking that maybe I had jumped to conclusions too fast and hoped that maybe we would just see a small regression and she would be fine now.  The roller coaster ride this disease takes us on is so hard.  I remember it vividly in the first few months with Bryce.  One moment he was doing well...we had hope, next moment he had lost another milestone.  Back and forth, sometimes multiple times within the same day.

Anyway, Annalise had a few good days and then Friday hit.  She was back to being super clingy, super irritable, etc.  Not horrible, but obviously something was just not right.

Saturday came.  I spent the morning in Tucson at a conference with Marsha Dunn Klein and then headed over to my niece's baptism on the way home.  When I got home, Annalise grabbed a hold of me and would not go to anyone else.  She was fussy and just seemed irritated.  It's hard to explain, but this irritation/frustration/whatever it is that they go through is different than say a normal 3 year old tantrum or irritability or even the way a child acts when they are sick.  I don't even know how to explain how, but it is different and I have learned to recognize it as that.  She will go from happy and having fun to angry and crying in a matter of seconds and usually for no real apparent reason.

We all headed over to the park to celebrate my niece's special day with my brother and his family.  Annalise settled a little while we were there, ate a few bites of food, had fun going down the slide with Dad and rolling the ball with her cousins.

 Eliza, Maisey, Annalise, and William

She even let Grandma hold her for a few minutes!

Then we came home.  She seemed okay, still a little irritable, but overall okay.  She played for a bit and then I gave her a bath and put her to bed.  About an hour and a half later I checked on her as I was heading to bed myself.  She was fine. By the time I got across the house to my room, I heard her cough and then heard a strange sound.  I went in and she had thrown up.  Now when I say she threw up, it isn't like regular "I have the flu" throw up.  It is hard to explain, but it is different, clear, mucusy, foamy, thick when Bryce and Annalise have their episodes.  (I've seen it with Spencer a couple of times as well, but we are not even going there right now.)  She threw up like this 3-4 more times, slept on my lap for a few minutes and then woke up. This was about 10:30.  She did not go back to sleep for the rest of the night.  Seriously, wide awake all night long.

I held her, we watched a movie, I rocked her, everything trying to help her fall back to sleep.  She didn't.  By this point, she wasn't fussy or anything, in fact she seemed very happy.  She just wasn't falling asleep.  She wanted to play the iPad and I was having a hard time staying awake, so I finally decided to just let her sit next to me and play while I slept for a bit on the couch.  That kind of worked.  I was able to sleep in between times of her waking me telling me all about the game she was playing or asking me for something.  I gave her water throughout the night hoping to keep her hydrated.  Luckily she kept it all down, but she never did fall asleep.  All night long!  Not until 11:45 this morning!  Crazy.

She then slept until 5pm when John woke her up.  She was irritable and clingy on and off all evening and fell back to sleep about 9:00 tonight.  She is still asleep now, so hopefully she will have a better night tonight.  I just wish I knew what was happening in her little body right now.

I dread tomorrow because I will be away from her all day.  As much as she does not want to leave my side right now, I do not want to be away from her for even a second.  I will be having Mohs surgery for a spot of skin cancer on my nose in the morning and then her brother, Jacob, is getting his cast off.  It will be hard to be away from her, but luckily she will be in good hands with some of her favorite people.  I am so thankful for our helpers!  

Awake

It is almost 2 am and I cannot sleep.  That is not normal for me.  Usually just minutes (sometimes seconds) after my head hits the pillow, I am asleep.  I spend many of my evening hours exhausted and love that moment when I get to climb into bed.  Tonight I have been to bed multiple times, but have not fallen asleep.  I have too many things on my mind.  I'm hoping that by coming here, I will clear my mind and be able to get some sleep.

I had a fantastic time with some of my friends tonight playing Bunko, talking, and laughing.  After everyone left, I had cleaned up a little bit, and put my boys to bed, I hoped onto face book.  I wanted to see how my Leukodystrophy family was doing.  I saw that my dear sweet friend Denise, Ryder's Mom, is really struggling.  Understandably she is struggling.  She is getting the help she needs and for that I am very thankful, but my heart aches for her.   I love Denise like a very close sister.  I know that she is a strong, amazing woman.  She is hurting.  Please keep her in your prayers!

Another thing that has been weighing heavily on my mind is accepting what I need to do for Annalise.  She is definitely going through a period of regression.  I've been able to see it for a few weeks, I think Mom's almost always notice these changes first.  I didn't want it to be, so I said very little about it.  It becomes impossible to ignore though when it begins really affecting her quality of life, when she becomes frustrated and is in tears trying to get us to say the right thing when it is obvious to her that we did not understand what she said.  Or when her older brother says,"Mom, why is it so hard to understand Annalise now?  I have no idea what she is trying to say."  It is not my imagination, it is not just my fear,  it is real and there is nothing I can do about it!  I hate that!

She is also more weak, in her jaw, in her legs and core.  She struggles to eat, to swallow.  A couple of nights ago she woke up crying.  I went in to her and realized that she was trying to move from her back to her side so that she could lie on her pillow pet.  She couldn't do it.  I helped her and she fell back to sleep.  She woke up not much later struggling again.  I pulled her close, told her I loved her, and snuggled with her.  We both went back to sleep.  Lately when she wakes up in the mornings, she often says that she had a bad dream.  She seems more fearful of going to bed now.  It could just be her age, but I can't help but wonder if some of these moments of not being able to move into another position feel like bad dreams to her.  I know it would be a nightmare for me!

Her shoulders are becoming more stiff.  Luckily we have wonderful therapists who help us deal with the changes going on with her, to show us more stretches and activities to help with range of motion.  I wonder if it is time to visit Dr. Gray, Bryce and Annalise's psychologist, again to get more ideas on how to help Annalise emotionally handle these changes.  She gets very frustrated.

It is definitely time to take her in for a weight check, to have a swallow study done, and I'm guessing to start having a GI doctor follow her progress.  I guess I've known that for a while as well, but in my crazy mind, I sometimes think that if I don't take her in to check these things, everything will stay the same.  It only becomes truly real when a doctor tells you it is, right?  So if we avoid the doctor, she will continue to be fine.  See, this stuff does mess with your mind!

My 10 year old said something last Sunday that is also stuck in my head.  For some reason Bryce has been gagging and throwing up a bit more the last few days.  We are tweaking his feedings just a bit to see if that will help. As of now, I honestly think it is just that and not something more serious.  However, children do not always understand this.   Sunday Bryce threw up his dinner.  After watching this, sweet Jacob said, "I hate to say this, but I think I know what this means.  I think it means that Bryce is closer to dying.  Bryce and Annalise are both not doing good right now are they?"  The look on his face when he said that and the fear I saw through his tears the next day as he watched Bryce struggle for a breath after throwing up again are etched in my mind forever.  We try to keep our older boys from witnessing these things as much as possible, but  they are smart and they know what they see.  We are honest with them.  I tried to reassure him that although they are struggling, it does not necessarily mean they are closer to dying.  We just need to remember that our Father in Heaven knows the plan, the big picture.  It will all be okay.  We need to keep praying and helping them however we can.

Thank You for the Prayers!

Here is something I wrote on facebook Sunday morning.  I wanted to put it here as well, because it applies to all of you!

Thank you so much for all of the prayers! You are all very powerful pray-ers.  Bryce had a fairly uneventful night and sounds so much better this morning. I seriously am amazed. God is great and miracles do happen! Hopefully Bryce will be able to keep some liquids down today. His poor lips are so dry and cracked, but I think he is on the mend. Thank you all so much. Happy Easter!

I truly feel that it was a miracle that he did not have to go to the ER Saturday night.  He was really struggling.   I believe so strongly in the power of prayer.  I often do not feel that my faith and prayers alone are enough to pull my children through some of these times, but with the prayers and faith of all of you, I have witnessed many miracles over the years.  Bryce and I were not able to attend church on Easter Sunday, but we were all able to be home and together as a family...and for that I am very grateful!  

Although not yet completely out of the woods, Bryce continues to heal.  Today he was able to keep some food down, mainly bananas, applesauce, oatmeal, some coconut oil, and coconut water.  It is so great to be able to feed him real food through his tube.  I was able to feed him small amounts of the foods I would feed any child who was recovering from a stomach flu.  It feels so good knowing exactly what is going into his body and knowing that he will not have any ill effects from added chemicals or other things he does not need as he is trying to heal.  I love it!    

He continues to run a low grade fever and is still struggling with a cough and some lung congestion, but shows signs of improving and feeling better.  Yesterday we got a few smiles out of him.   It was so good to see that smile again.  He let me know multiple times that he wanted a bath, so before I bed, I gave him a nice, long bath.  Annalise joined us by playing peek-a-boo at the side of the tub.  It was so cute!   

Today Bryce wanted to play the iPad and spend some time on the floor.  I was thrilled to see him roll over onto his tummy again today and then onto his back.  It is always a bit scary as these kids go through illnesses as these are the times that we often see further regression, so I can always breathe a little bit easier once they begin to return to their normal.  We are praying that he will be completely well and back to his normal soon!   

Annalise on the other hand is still struggling to get back to her normal.  She seems to be over her illness, but continues to struggle with her strength, swallowing, and speaking.  We were beginning to notice a bit of regression in these areas before she became sick, but there has definitely been a noticeable change over the past week/ week in a half.   She has been much more cranky (even for a 3 year old :)  and wants to be held or close to mom most of the time.  "I need you" has been her phrase of choice many times throughout the day.   It makes me smile and cry all at the same time.  She talks, but we are having a very hard time understanding the words that are coming out of her mouth.  She is resorting to a lot more signs and pointing as she tries to get us to understand.  She tires very easily.  She gets so frustrated!  I don't blame her though.  I can't even imagine how tough it must be to talk to someone and have them no longer be able to understand what you are saying...especially when they could just a very short time ago!    We are hoping and praying that these are just lasting effects from her illnesses during the past month and that she too will soon be back to her normal.  I am not ready to accept that this is her new normal.  I just can't do it yet!