Good-Bye Lisa

 Today I attended the funeral of a dear friend, Lisa Sawyer.  It was tougher than I had expected.  The church building was packed with hundreds of people who knew and loved Lisa.  The spirit was there.  I pray that her family will be comforted by that spirit throughout the difficult months and years ahead. 

I didn't know Lisa really well, but I loved Lisa from the day I met her.   That day was in March of 2004 when our family first moved to Queen Creek.  She was one of my first visiting teachers.  I was the mom of two young boys, ages 2 (almost 3), and 16 months.  I was 6 months pregnant with out third boy.  I remember her coming to my home with her young daughters and talking with me, sharing experiences with me, and helping me know that some of those overwhelming feelings I was feeling at the time were normal.  We became friends. 

About a year later, we moved to another home about 3 miles away.  Not far, but in the "Mormon" world, 3 miles can seem very far since that meant we were in a different ward.  As mothers of young children, we didn't really see each other much and soon it was mostly just in passing on some Sunday's in the halls of the church building.  Then, more buildings were built and the Sawyer's moved and Lisa and I saw each other less and less.  However, the friendship that I had with Lisa was one of those where you could go for long periods of time without seeing each other and then when you did, it was as if very little time had passed.  I loved visiting with Lisa every time I got a chance and looked forward to the next time that our paths would cross.  We would chat briefly and say that we really should get together some time.  I wish that we had.  She would always ask about our children.  She followed what was going on with Bryce and Annalise.  She was just one of those people who I always admired and really looked forward to talking with. There was just something special about Lisa. 

I will miss seeing her in the halls.  I will miss talking with her and seeing her smile.  I will miss the spirit that I felt when I was around her.  A truly wonderful person has returned to her Heavenly home and I will miss her until the day that I get to meet her in the halls of Heaven where we will be able to talk and laugh together once again.   I love you, Lisa!  You will be missed more than you know!

It's All Fun and Games

...until someone loses a tooth!

Notice anything missing here?

A few days ago I noticed that Bryce's top two front teeth were beginning to become loose.  They weren't real loose, just starting.  I figured it would be a few weeks still before he lost his two front teeth.  Well, it may have been that way except for the fact that today he got a little help with getting them out quickly.

Have you ever played Monkey in the Middle.  It's a game where there are 3 players, two on the outside and one in the middle.  The two on the outside throw a ball to each other and try to keep it away from the one in  the middle.  Well, this morning just after breakfast, I was in cleaning up the dishes and one of the boys said, Mom, Bryce's lip is bleeding.  Well, me being the great mom that I am, said okay and kept going with what I was doing. In my defense though, Bryce's lips often become chapped and I just figured that it was bleeding a little from that and that whoever had said that would just wipe it off for him.  

A couple of seconds later I heard a few things that caught my attention a bit more.  Things like, "hold his head to the side, so he doesn't choke on the blood." and "wow, that is a lot of blood!"  and "where is all that blood coming from?"  I grabbed some paper towels and quickly headed over to investigate.  

I went into the family room and saw Bryce with his mouth and chin covered in blood.  I quickly lifted him into my lap and began cleaning him up, trying to see where the blood was coming from.  I asked the boys what had happened and they said he got hit in the face with a ball.  What?!   I would ask more questions about that in a minute...once I figured out where the blood was coming from.  Then someone, I think it was John, asked if his tooth was missing.  I wiped his upper lip a little more, looked a little closer and sure enough, there was a tooth missing.  The boys looked on the floor where Bryce had been lying and there it was, a little tooth.  The tooth next to it is still attached, but I'm pretty sure it will be coming out very soon.  It is much looser than it was before!  Luckily these teeth were still baby teeth.

It ends up that the boys had decided to play Monkey in the Middle while they waited for General Conference to start.  They choose a soft ball "just in case it hit someone".  

Good plan!  Well, William was throwing it to Jacob and wanted to be sure Spencer couldn't get it, so he threw it nice and hard.  Let's just say, Spencer did not get the ball, but neither did Jacob!  Somehow the poor, innocent, other monkey who happened to be in the middle caught the ball...with his face! That is one way to get rid of some teeth fast!

He keeps moving that other tooth with his tongue, but puts up a stink if I try to get in there to get at it!

Another First Day

Today it was Bryce's turn to try out his new school for the first day.  He sounded kind of junky when he first woke up this morning, but otherwise seemed fine, so he went off to school.

I met with his teacher, Jaime, and his one-to-one aide, Teresa, for a little bit before school to go over all the basics of Bryce care.  Everyone that I have met who will work with the kids at the school seems wonderful and are very excited to work with Bryce and Annalise.  Teresa used to work as a Para at Ryan Elementary in one of the self contained classrooms, so she knows were Bryce is coming from.  She assured me that I am going to love it here at LIFE after working with Ryan.  That is nice.  She seems like she will be great with Bryce.

When I returned to school I was told that Bryce did well and seemed to enjoy himself there.  They said his favorite part of the day was Gym where he got to go down the big slide.  Yeah, I think he is going to love it there!

Annalise also enjoyed her day.  She spent this afternoon singing new songs that she is learning.  Both of the kiddos were very tired out by this evening.  They were both asleep before 7:30.  I think they worked and played hard at school today.  A great combination!

Before school, I tried to take some pictures of Bryce and Annalise together.  Neither of them was really into picture taking.  Bryce would absolutely not look at me and Annalise...well, she was just in her happy little world! 

New School of LIFE

So the write up of how we got to this point is still in the works, but as of today, Annalise is the newest student of LIFE Academy.

She and Bryce were both supposed to start today, but since he has been sick, Annalise got to be the first one to try out the new school.  We got to school this morning and she walked right up to the front door where her teacher greeted us.  She then said, "have a good day Mom." and walked on in.  She did turn around long enough to let me tell her I loved her, and then she was off for her day.  When I went to pick her up, she was busy working on a puzzle and had to finish that before we could leave.  The teacher and the aide that were in there both said that she was a lot of fun to have in the classroom and "a character".  She is a funny one that's for sure!

It was fun to hear her tell me about her day.  She said that she made new friends, but she didn't know their names.  They must have talked about Halloween being this month because she kept saying that we needed to go home and get ready for Halloween.

Instead we made a quick trip to Target to look for some Hi Tops for her.  We have noticed that she walks a lot better without her AFO's then she does with them.  We think they are just too heavy for her.  Her physical therapists also noticed that and said that perhaps a simple pair of  Hi Tops would give her enough support without needing the full AFO.  She still needs the stretch that the AFO gives, so we will try having her wear them at night and just the Hi Tops during the day.  At least for now until we figure something better out for her.  Not sure how the nighttime thing will go, but we will try it and see.

It was a lot of fun actually going down to buy her a pair of shoes.  I haven't been able to buy her a cute pair of shoes for years.  She didn't like the first few pairs we tried on.  She didn't want anything to do with any boots!  Who knows, maybe she remembers her boots from a year ago that didn't come off for 7 weeks.  She kept saying that she didn't need shoes because she could just go barefoot.  (A girl after my own heart!)  Then we came to some Hi Tops that were black and pink, filled with sparklies, and had Hello Kitty on them.  She was hooked. 
 

Luckily they are adorable and they had them in her size.  I think they were the most expensive shoes I have bought for any of my children so far, but hey...they had sparklies and Hello Kitty...what do you expect?!  We will give them a try tomorrow and see how they work for her.

While at Target, we of course had to walk through the dollar section and while we were there, Annalise spotted something she just had to try on.

She made such a cute witch, I had to take a picture! 

Then we quickly headed home so that she could have OT with Heather and I could meet the boys and start the Tuesday afternoon running around.  Overall a fun afternoon with my girl!  I'm glad she liked school and is looking forward to going back tomorrow.  If all goes well, she and Bryce will be going together!

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. 

Mesothelioma Awareness Day

I want to tell you all about a new friend of mine.  Her name is Heather.  She is an amazing woman.  When her daughter was just 3 and a half months old, Heather was diagnosed with Mesothelioma and given 15 months to live.  7 and a half years later, she is here raising awareness and spreading hope to others.  Sept. 26th is Mesothelioma Awareness Day.  Please read Heather's story here and then share it with others.  We could all use a little more hope in our lives!  Thank you Heather for sharing your story and your hope with the rest of us!

Proud Mom Moment

Today William spoke in Sacrament Meeting for the first time ever and let me tell you...HE ROCKED IT!  He did such a great job.   He made this momma proud! 

Yesterday afternoon he came to me and asked me if I had Brother Cooper's phone number.  I said that he did and asked him why he needed to call him.  He said that he needed to ask him some questions about the talk that he (William) was going to be giving.  That was the first I had heard about a talk, so I questioned him a bit further.  He said that Brother Cooper had asked him about a week ago to speak in church and told me what he thought the topic was.  He said that he had been thinking about it all week, but just hadn't told me about it.  Sheesh, kid!  Anyway, he then asked if I would help him with it.

I brainstormed with him a bit and helped him get it started and he took off with it from there.  Once he had it written he began practicing it.  He kept saying that he didn't want to just go up and read it and then that he didn't think he should even take his papers with him.  I assured him that it would be fine if he took some notes up with him just in case he got nervous or something and needed to look at something during his talk.

Well, we practiced many more times and it was really sounding good.  He was nervous, but I knew that he would do fine.  What I didn't know was just how fine he would do.  When it was his turn, he stood up and began talking.  I noticed that he did not have his papers with him and I'll be honest, I got a little nervous for him.  A little worried that he might need them sometime along the way.  But oh was I wrong.  That boy of mine (okay, John's too) stood up there, looking out at the audience, and shared his entire talk without even appearing nervous or using his notes once.  (I found out after church that he had put them in his pocket just in case) It's a good thing that you can't cheer in church because I may have just run up and given my boy a high 5 when he was finished.  I saved that for after the meeting!

William told me after church that he had been really nervous and that he was shaking through the whole talk.  He said that he just said a prayer, actually a few prayers before getting up and that he just knew he would be okay.   He said he was able to picture his talk in his head and he knew that he would have help as he spoke.

He received many compliments throughout the day.  What really impressed me was that a man from our ward who William does not even know very well called him, just to let him know how much he and his wife had enjoyed William's talk.  He told him that he was very impressed with how well he did and that it would be okay with he and his wife if William spoke every Sunday.  It was so sweet of him to do.  It made William's day! 

So for those of you interested in what William spoke on today, I will add his talk notes below.  I am so very, very happy with what a great young man our William is growing up to be.  He makes my heart happy!

1 Year Ago Today

It was one year ago today that Bryce and I headed down to Tucson to meet with Marsha Dunn Klein for the first time.  I was on a quest to find someone who would help us safely transition our son to a blended diet.  With only one small change, we have seen miracles happen.  We have witnessed him doing things that we believed we would never see him do again!  Switching him to a blended diet may have been the best decision I have ever made!

I've decided that in celebration of his "new food" anniversary I would make a list of some of the changes that we have noticed throughout this year.

You can see some of the earliest changes that we saw written here in a post from Nov. 2012 as well as  listed below:   

1. He seems to be more alert, aware, and involved in what is going on around him.  One of his physical therapists today described it as him being more "present" in the world around him. 

2.  He has had the healthiest November that he has had since becoming sick in July 2008.  I'm a little nervous to say that with a few days of November left, but so far, considering this is a month which I have come to fear and dread, he has done amazingly well.  The true test will be to see how January/February go.
 
3.  He gags less, has less reflux issues, and has good, regular bowel movements. He is also willing and wanting to taste more and more foods by mouth.  This first started when I began giving him green smoothies, but over the past month, we have all seen an even bigger improvement in this area. 

4.  His sleep has improved.  Less waking up during the night!
 
5.  Has more energy.  He is trying to roll over or scoot around more often and with more purpose in the movements  i.e. to get his feet to his sister so that he can kick her (seriously, he does this intentionally...typical big brother!)  or to knock over a stack of blocks that someone has built just out of his reach. 

6.  Starting to copy more sounds that others make.  The staff at Ryan House last week really noticed this.  Liz, one of the nurses there, kept commenting on how much better Bryce seems to be doing now than he was during our past visits. 

7.  He just seems to look and act better overall.

A few other things we have noticed since writing that post include:

1.  Although over the last few months we have seen a little more illness creep back in for him, he still seems to be healthier overall.  He definitely recovers from illnesses more quickly then he did before and doesn't seem to regress after an illness like he often used to.

2.  He is able to grasp things with his hands again.  Sometimes only for short periods of time, but he can do it.

3.  He is able to lift his hands up and make small marks on paper with very little help.

4.  He can now bring things up to his mouth and chew on them.  The first time he did this it took him almost 45 minutes of trying before he got the z-vibe to his mouth.  He was so determined and did not want anyone else to  help.  He just kept trying until he finally got it into his mouth.  Now he can bring something into his mouth on demand...within a minute or two!

5.  He doesn't gag when he does #4 above.  In fact he is able to tolerate having more things around his face.  We are able to have balloons, rubber balls, etc. in the same room with him again without them making him gag and throw up!  

6.  He is able to reach out and grab for objects again.  He is able to pull them to him or push them away from him.

7.  He is rolling again.  He first was able to roll from his back to his stomach and then just about 2 weeks ago, he rolled onto his back and was able to get all the way over and get his hand out from behind him.  I was so excited!  He was too.  I haven't seen it again yet, but I'm sure I will!

8.  He is able to lift his legs in a walking motion when he is being held up.  He loves "walking" from place to place all over the house!

9.  He continues to gain weight at a steady pace.  He is actually on the charts once again!

10.  He is down from 4 to only 1 prescription medication on a regular basis.

11.  He continues to be so aware and loves to interact with people and his surroundings.

12.  He has much better head control.  When lying on his belly and propped up on his arms, he is able to hold his head up to watch TV or something else going on that has caught his attention.  We have seen him hold his head up for up to 10 minutes at a time.  We used to count that time in seconds!

13.  Bryce's GI doctor who was so against Blended Diet in the beginning has come around completely.  Going from being totally against the idea of me changing Bryce's diet from canned formula to my own blended formula meal of real food, to now suggesting that I talk to other patience of his as well as telling them about the blended diet himself!  When I tell him of Bryce's latest accomplishments he says it is because of all that Green Love that I am feeding him.  :)

14.  The rest of the family is eating much healthier as well.  Bryce is still by far my best fed child, but the rest of us are coming around!  

15.  ...and probably the most exciting thing that we have noticed is the results from his MRI that did not come back as abnormal as his previous ones.  His Mylen, or white matter is growing back!  Unheard of!  Most of the things that he is doing, are not supposed to happen...medically speaking anyway!  He has stumped his doctors once again!

There may be more and I will add them as I think of them (or if others who work with him think of anything else) but, we are seeing miracles with this boy!  I can't say for sure that all of these things are happening just because I changed the type of food that he eats.  However, this is the only change that we have made over the past year and the evidence seems to speak for itself.  I know that these positive changes we see in Bryce are miracles.  They are things that we were not supposed to see our son do ever again.  They are miracles given to us by our Father in Heaven who loves us, loves Bryce, and has blessed me with the knowledge and determination to do what I needed to do so that Bryce could begin to heal.  

May the eating and healing continue!

Battling for Bryce

Like most of you, I would do anything for any one of my children.  When I gave birth to my first child at the age of 30, I quit my job in the "real" world so that I could be home to raise our babies.
 

 William April 2001

The day that first child was born I began a job that is completely unlike any other.  I vowed that I would do the best I could possibly do while working through that job.  I knew I could not do it alone.  I knew I wouldn't have to.  I knew there would be good days and bad days, happy times and sad times, fun times and not so fun times, but I had no idea the extent to which this job would pull my heart, mind, soul, and everything in me in so many different directions. 

Bryce 2013

There is a battle for Bryce going on at his school right now and as Bryce's mother, it is my job to be at the head of this particular battle.  It is a battle that Bryce would fight for himself if he could, but he cannot.  Yet at the same time, it is a battle that I could not be fighting for him without the help of his spirit and our Heavenly Father's spirit from above.  I love my son and every one of my children more than I will ever be able to express and I will continue to do everything in my power to fight for what they need!

Spontaneous

Spontaneous:  coming or resulting from a natural impulse or tendency; without effort or premeditation; natural and unconstrained; unplanned

On the morning of this past 4th of July, we got into a discussion with some friends of ours.  Some of them were leaving right after the breakfast to go camping.  Someone said that we should come up as well.  When I said that we would need more time than that to prepare, he said something to the effect of, "what kind of preparation do you need for camping?  Just throw some stuff in the car and drive off."  It got me thinking.

I have never been much of a planner.  I have trouble making commitments and love to do things on the spur of the moment.  I usually like change.  When John and I were first married, I was working for the airline so we could fly standby for free.  We loved flying to new places and having the ability to visit friends and family so easily.  One 4th of July we decided to fly to Utah.  When we got to the airport, we saw that the flight we were hoping to take had filled and there were no other flights to SLC with seats available.  So, what did we do?  We sure didn't go home.  Our bags were already packed.  We stood there looking at the departure board and chose a place to go.  We spent that night in Florida!

Once we had children, I quit working so that I could stay home with them.  Our love to "go" at a moment's notice didn't change much.  We went on a couple of family trips like the one to Disneyland with our friends the Crandalls.  They were going with their family (family reunion) and one of the families was not able to go at the last minute.  So they called us, we packed up our 3 little boys and left.  Best trip to Disneyland ever!  (Well, other than the fact that our stroller was stolen while we were stuck at the top of a ride..but hey, that just added to the adventure!)  Many of our friends also knew that they could call us almost anytime and we would jump at the chance to join them for a date night, family activity, or even camping.

But things have changed.  I knew that, but I think that this discussion with our friend really brought the reality of it to the surface for me and quite frankly, made me a little sad.  I think that for everyone as you have more children, the ability to be spontaneous becomes less and less.  But when you add in a child (or two) with special needs, it is an even bigger challenge.  A child who is medically fragile takes it to an even higher level of difficulty.

As I think about it, I think the last spontaneous trip we may have taken was our trip to Italy where we ended up in Holland.  Ha Ha!  That one sure wasn't planned or prepared for.

What a lot of people who do not have medically fragile children do not understand is how much work goes into taking care of these children behind closed doors.  How much it takes to get ready to leave the house for even a few hours.  How much equipment and medication has to be brought along for their basic needs as well as the "just in case" items that your child may need, possibly to keep them alive while you are away.   We have to think about having a power source to run their machines.  We have to prepare their food ahead of time, because stopping for a hamburger along the way just isn't an option.  The list goes on and on.

So, when I got a call last Wed. night from Melissa at the Ryan House stating that they had room available this week and would love to have Bryce and Annalise come stay for a few days, I was excited with the thought of a spontaneous trip once again.  We had to decide quickly if we could make the arrangements,  pull our kiddos from school, and make that Summer Staycation that never did quite happen this Summer, happen now.

-To be continued-

...after our vacation...

Friday, August 2nd, Annalise had her MRI tests.  Saturday night 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?

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...

2 Pounds and Continuing!

He did it!  Despite all the tummy trouble he has had since his last GI appointment 3 months ago, Bryce still gained 2 pounds!  Woo Who!

I was a little worried, but he pulled it off.  Dr. McOmber was pleased with that.  He gave me a hard time about the Green love, in a joking way throughout the entire appointment.  He also said that he had just talked to someone who had come in about the fact that I feed Bryce a green smoothie through his tube and how it has helped with his constipation and gotten him off of MiraLax.  We are becoming known around that office and other people are joining in!  It is so nice that he has come around to totally being okay with us doing a blended diet for Bryce.  It is hard to deny the facts of the benefits of eating real food when you see results like Bryce's right in front of your eyes!  Keep it up Bryce.  You are doing great things here!  Dr. McOmber really is a fantastic doctor and the appointment couldn't have gone better.

Last time we were in, Dr. M mentioned doing some blood work to be sure Bryce was getting all of the nutrients that he needs through his new blended diet.  He didn't mention it this time, so I brought it up.  I would just like to make sure Bryce is not lacking anywhere.  If he is, then we will know that and I can just adjust his feeds a bit and make sure he is getting everything he needs.  I love being able to do that!

Bryce showing off his nifty green bandage.

Bryce did a fantastic job with getting his blood drawn today.  No crying at all!  He was not happy about having to get it done, but he made it through without any tears.  I was so proud of my big boy.

Appointments like today's make me feel like all the extra work/money I am putting into feeding Bryce the right way, for him, is really worth it.  Sometimes it's just nice to have a little reminder of that.

Our busy day continued once we got home.  Bryce's one-on-one Para from last year came by to say hello.  She was here for about 4 and a half hours.  It was so good to see her again.  She has really been missing Mr. Bryce.  We found out on the last day of school that, by no choice of her own, she will not be returning to the school next year.  They told her that her job has been cut.  Her job was being Bryce's one-on-one Para.  Doesn't make any sense why that position would be cut.  He still very much needs a one-on-one person with him throughout the school day, not to mention it is in his IEP, not to mention they have a notice from Dr. N making it very clear that he is to have a one-on-one aide at all times.  I learned a little more today.  Unfortunately, some of my suspicions have been confirmed.  Looks like I will be making a call/visit to the school once the office staff is back from Summer break.  Leslie is a fantastic person and the new little girl  that she will be working with this next year is very lucky.  This story will be continued for sure!

I love this picture of them together! 

Ms. Leslie and Bryce.  Both happy to see each other again!

While Leslie was here, Bryce and Annalise had speech therapy.  Today, Miss Laura brought a cute hand flag craft to do with them.

It still amazes me that we are able to do this with Bryce.  Just months ago, even seeing the bottles of paint would have made him gag.  There is no way that we would have been able to put it on his hands! 

Maisey and Eliza, my nieces were over when we were working on the crafts, so they got in on the action.  

The projects turned out really cute!  While all of this was going on, the older boys had cousins and friends over.  We had 11 kids here total most of the afternoon!  Fun times!  Converting our garage into an area for the boys and their friends was one of the best things we have done in years.  Hopefully we will be able to finish the therapy room soon.

Happy Birthday Annalise

It's a day to celebrate!  Today my baby girl turns 4 years old!

 May 2009

May 2010

May 2011

 May 2012

May 2013

Happy birthday sweet girl!

Bryce's Big News

Yesterday, 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!

Happiness is...

being married to your best friend for 13 years

 

...and knowing that there is an eternity of adventure still ahead!

Wonderful Weekend!

Here is what made my weekend so great:

*Friday morning my little brother, Kevin, and his 4 children moved into our guest house.  He has lived in Utah since he got married so I really only saw them every couple of years at family reunions and things  like that.  It is so wonderful to have them so close now.  I am really looking forward to getting to know him better and getting to know his children.

*Friday afternoon, John and all 5 of our children left for a weekend stay at Ryan House.  I stayed home so that I could help with the Finish Strong event Saturday morning and go to church with my brother and his family on Sunday.  I knew my children would be in good hands and that they would all have a fantastic time, so it made it a little easier to be away from them.

*My mom came back into town on Friday and she and I were able to go out to dinner and run a few errands together.  I love being with my mom.

*Friday evening as I was preparing some items for my booth at the Finish Strong event, I was able to think back to how the event got started and all of the many miracles that our family and others experienced because of this inspired event.

*Friday night about 11:30pm I was stung by a scorpion for the first time in my life.  Now it may be strange that this event made my great moments of the weekend list, but here is the reason why.  I have feared being stung by a scorpion for a long time.  I have heard horror stories about it.  Well, now it has happened.  It wasn't fun, it hurt/stung for about 24 hours, my arm and hand were tingly and numb for a few hours, BUT I lived.  I now know that I am not allergic to them, I will not need to go to the ER if I ever get stung again, and it was not nearly as bad as I had imagined it.  I don't have to wonder anymore.  I now know what will happen if I ever get stung again and that is a good thing!

*Finish Strong event Saturday morning...best thing ever.  What a great turnout.  I loved visiting with people, friends from church, some friends I hadn't seen for a while, some I had never met before...many of which had been at the event for Bryce and Annalise last year who were interested in how they were doing and actually thanked me for how our family has helped them.  Incredible!

*4 & 1/2 hour nap Saturday afternoon!

*4 & 1/2 hour nap Saturday afternoon!  (Sorry, but that deserved two spots!)

*Saturday dinner out with Mom again.  Olive garden.  No responsibility to hurry home to.  We were just able to talk and enjoy some time together.  No rush.  I love spending time with my mom.

*My family was doing great at Ryan House and having a wonderful time!

*I got my start up kit to be an Independent Product Consultant for doTERRA.

*Slept through the night!

*I was able to be up, showered, and ready for church within a 1/2 hour.  When everyone is here, it typically takes about 2 hours to get everyone ready and out the door.

*Going to church with my brother and his children.  It amazes me how much I love his family.  I am so happy that they are here.  I am also thrilled with how kindly they were treated at church.  They all loved our ward and say that they feel very comfortable there.  They have become members of one of the best wards around!

*Sunday lunch with my brother and his children!

*2 hour nap!

*My family returned home from Ryan House.  All safe, well, and very happy.

It has been a fantastic weekend!

Priesthood, Sacrament, Church is Awesome!

So I am behind on some very important happenings in our family.  On March 31st, John was ordained as a High Priest.  He also has a new calling in the ward.  He is one of the assistants to the High Priest Group Leader.  John's dad was able to drive in to do the ordination and celebrate this wonderful day with us.  This day also happened to be Easter, so it was great to have him here to celebrate that with us as well!

On April 1st, our oldest son William turned 12.  On Sunday April 14th he received the Priesthood  and was ordained to the office of Deacon.  It was a wonderful day and I am so proud of our son.

My mom, my sister Sheri, my brother Kevin, and his children were all able to be here with us to celebrate this wonderful day.  In Sacrament meeting, the Bishop always has the newly turned 12 year olds recite an article of faith.  William had #13.  He did a fantastic job reciting it.  He has been practicing the memorization of all of them for a while now and has them down!

Then this past Sunday, William was able to pass the Sacrament for the first time.  He was so nervous!  There are some wonderful young men in our ward though and they helped him know exactly what he needed to do.  He did a fantastic job and it made me so happy to see him doing this.  Mom and Sheri came to church with us this day as well!

John also spoke in church last week.  Annalise had been up most of the night before, so I was only planning to stay for Sacrament meeting. I wasn't sure how she was going to do or if we would make it through the meeting.   Amazingly, she did very well.  As I carried her into the chapel, she lifted her arms up and said very clearly, "this place is Awesome!"  She was in such a great mood throughout the entire meeting.  What a blessing!

It is so wonderful to be a member of the Church of Jesus Christ of Latter-day Saints.  To be able to attend meetings every week where we can feel the spirit, where our children are able to learn about Christ and his teachings, and where we can "recharge" our spiritual batteries in preparation of the upcoming week.  I agree with Annalise...This place is Awesome!

Miracles Do Happen

4-18-13

Today was a good day.  So far, this week has been a good week for our family.  As of this morning, my brother Kevin and his kids are free!  His divorce is official and he has full custody of his children!  Now they can all relax a bit and start building their new lives here in Arizona.  I am so happy for them.  Of course I am sad to see an eternal family break up, but I was sad about that when I first learned what was happening.  I understand that sometimes, because of free agency and the choices that people make, sad things have to happen.  But in the end, everything will work out for those who are trying their best to do what is right.  I am so happy for my brother and look forward to seeing what his life ahead has in store for him and his children!  

Also this week we witnessed what I believe to be a miracle, a very significant one in my family.  A couple of weeks ago my dad, who had some cancer removed from his stomach a few years back went in for a check up which he does every 6 months.  His white blood cell count was high so they decided to do a CT scan and make sure everything was okay.  His stomach looked fine, but they did find something in his liver.  Tuesday of this week he went in for a biopsy.  The surgeon doing the biopsy said that since the mass was so close to his lung he wanted to do another CT scan to be sure of where it was and make sure he could get to it without puncturing his lung.  He took the CT Scan and saw nothing in the liver.  He did an ultrasound to see what was going on.  Again, he could not find anything there.  He had seen the original CT Scan and knew that less than 2 weeks earlier there had definitely been something in my Dad's liver and today it is not there.  They rechecked his numbers and guess what...they were down as well!  Not to normal, but lower than they have been in the past.  Prayers have been answered and we have witnessed a miracle!  I am so thankful for the power of prayer and fasting and thankful that miracles do indeed still happen!

As a side note, as for the rest of the story of  "My best day so far" post, I don't think I am even going to finish it now.  It seems like that week was so long ago now and I don't even remember all that happened, nor do I really want to go back and relive it at this point.  Let's just say that for about 2+ weeks things around here were very intense and basically non stop.  We still aren't back to our normal and I don't know if my laundry and house will ever fully recover, but life moves on.  Things are good.  Not perfect, but good and Miracles do happen! 

My Best Day So Far part 2

Back to the story...So that is what we did.  When we got to urgent care, they showed us the x-ray and we could clearly see the fracture.  We got a brace that mostly fit Jacob's arm, stopped at Costco to pick up a couple of things including a pizza for dinner, went home, threw a few things in the suitcase, tried not to look at the dishes in the sink, and left for a wonderful weekend away.

A few weeks back, our past Stake President, President Richardson told John that he felt inspired to invite our family to use their cabin for a little family get away.  We had decided that this past weekend would be a good time to do that.  Other than a slight nagging pain in John's shoulder/neck, we all were feeling great and had a fantastic time at the cabin. (More on that with pictures in another post)

Then we came home.  We got home Saturday night and I spent until about midnight getting clothes, dishes, etc. clean and ready for Sunday morning.  I also listened to our phone messages.  I realized from the two reminder calls that came from PCH, that someone has messed up and scheduled Jacob's Ortho appointment at 10:45 when he was supposed to check in for surgery at 10:15.  Oops.  No problem, I would just call and get it all cleared up first thing Monday morning.

So Monday morning came.  Yes, my best day so far.  I called the orthopedics's office and explained the mistake that was made.  The receptionist's response, "well, I don't have another appointment time."   Okay, so what should we do?  I explained that he had broken his arm almost a week before, he was still in pain, and we needed to get it set.  She just kept repeating, "I don't have another appointment time."  No offer of another day, or to squeeze him in earlier, or even an apology for whoever made the mistake.

So my mind reeled for a minute trying to figure out what to do, then I just said for her to cancel the appointment and I would take him somewhere else.  As I began looking for the names of the other orthopedic offices that I had gotten from our PCP, the phone rang.  That was my dermatologist letting me know that the spot on my nose was indeed cancer.  They told me they would call me with the results in 7-10 days.  I wasn't ready for that call just 4 days after the appointment.  It threw me for a loop.

So, back to trying to find an orthopedic doctor for Jacob.  Luckily the first place that I called, was very helpful.  A very kind young man listened as I explained our situation.  He then said that he would do everything he could to get William in right away so that it did not interfere with his surgery the next day.  He determined that the Gilbert office was the closest for us and looked at the schedule.  He said that they were totally booked, but that he would talk to his supervisor and see if they could squeeze him in, but it might be at the very end of the day or at the very beginning of the next day.  She would call me and let me know.

Okay, off to the grocery store to grab a few things.  While out, I got a call from the supervisor at the Core Institute.  She said that they could get Jacob in at 10:30 if I could make it.  The doctor had to leave by 11.  It was 9:55 at the time.  At first I said I could but then as I sat there with my groceries, I realized that there would be no way I could check out, get my groceries home, pick Jacob up at school, and get over to the office in time.  Besides I only had respite scheduled for Bryce and Annalise until 10:15.   She said that they could get him in at 2.  Perfect!

Our awesome respite worker was able/willing to come back that afternoon, which was great.  I did find out at this time though that due to sickness and unavailability for the next morning, I would not have any respite workers available Tuesday until 1:30pm instead of 7am like we had originally scheduled.  I would need to figure out another way to have Annalise taken care of while I took Jacob up for his surgery.  No time to figure that out now though, I would do it when we got home from his appointment.   Luckily Bryce would be in school all day so as long as all went well, it would just be Annalise and she is pretty easy.

At 1:30, I picked Jacob up from school and headed to the appointment.  I signed him in and the man behind the counter asked me what our last name is.  He looked at his computer and then back at us and told me that we were at the wrong office.  Ends up that the lady didn't schedule us at the Gilbert office, near Mercy Gilbert Hospital, but at the Mesa office on Dobson by Banner Desert Hospital, 16 miles away from where we were.  That would have been good to know earlier!  I explained that we would not make it there by 2 and that they were just squeezing us in.  Again, this young man was very kind and said that he would call them and let them know what had happened and that we were on our way.

As we headed back out to the car, I called our respite worker to explain that we would be a little longer than we had planned.  Then I realized that despite having charged my phone to 100%, the battery was low and would soon die.  I've been having trouble with my phone holding a charge and it no longer will charge with the charger in the car.  So it would soon die.  Not a big deal, I know.  However, when you have a medically fragile child at home who has a tendency to stop breathing at times, it makes you a little nervous to be without any way of someone getting a hold of you.  At least it does me!  I called John with the last bit of battery I had and told him what was happening and where we were going if anyone needed to get a hold of us...and off we went!  I explained that I had no idea when we would be home and that dinner would be late.  He reminded me that he had a meeting at 6.  I said that I would be home as soon as possible, but it should be in plenty of time.  He said, "I'll see you with a pizza in hand at 5:45.  I hadn't planned on pizza for that night, or being home that late, but he was right on!  Jacob and I walked in with a pizza for dinner at 5:45.

to be continued  (and finished) soon!