Trip to Tucson

Annalise continues to recover.  We came home Friday evening.  The first night home was great.  She even slept through the night.  However, the nights since then have been a different story.  She does pretty well during the day as long is she is on the pain medicine, but at night, the muscle spasms seem to continue to come right through the meds.  She doesn't want me to leave her side, so we are spending some quality time together reading, coloring, and playing with toys that she got from my wonderful friend Bobbie and my Mom!  If you want to read a more thorough description of how she is doing and see pictures, feel free to check out our family blog.  I will be posting more there as I get some time.

Today, Annalise will be spending the day with Denise, one of our respite workers.  Hopefully she will do well.  I will be heading to Tucson with Bryce to meet with Marsha Dunn Klein to learn more about what type of blended diet will work for Bryce.  Laura Hinners, Bryce and Annalise's speech therapist, will be going with us.   We will be meeting with a nutritionist as well.  Although I wish I did not have to leave Annalise here, I am really looking forward to meeting with Marsha and learning from her.  It is a great opportunity!

Annalise's First Surgery and Hospital Stay

Wednesday morning Annalise and I headed up to Phoenix Children's Hospital nice and early for her surgery.  They had called the night before and asked us to come 2 hours earlier than we had planned, so I made a few arrangements and got to PCH by 8:30

 Our home away from home for a couple of days. 

All ready to go see the doctor 

Annalise was excited to get her "bracelet" that had two princess stickers on it. 

With Dr. Duck.  They gave her this animal when we checked in.  The man who gave it to her said it was a goose.  She said, "It's not a goose.  It's a duck!"  Dr. Duck 

 Wearing pants for the last time in 6-8 weeks.

I had to take pictures of her cute, soft, little legs before they got covered with hard heavy casts. 

 We then spent time checking out all the toys.  

Annalise's new friend, a very sweet little girl who was waiting for her surgery also.  

 They played Candy Land and then tea party together.   So cute!

Once they called Jersey back, Annalise played with just about every other toy there was. 

We actually ended up having quite a while to play with toys because Dr. Shrader had two ER surgeries that came up.  Finally at about noon, only a half an hour before our originally scheduled time, the nurse came to get her.

 She had her dog (Mya) and her duck ready to go with her.  This was the hardest part for me...always is.  I walk with Annalise and the nurse to a door.  Then I give Annalise a kiss and they head one way and I head the other.  

The surgery lasted just over an hour.  She did great.  She woke up for about 2 seconds in the recovery room  

and before long they had us up in her room.  Room 8147.  This is the first time that we have been in the new part of the hospital.  It is so much nicer than the times we have stayed with Bryce.  The rooms are much bigger, we have the room to ourselves, and there is a bathroom and shower that I can use as well.  So nice not to have to walk down the hall every time nature calls!

The view from our room is also pretty nice.  

Annalise slept until about 3 pm.  Then woke up and was ready to play.

Aunt Sheri came and brought Annalise a balloon and a book.  Annalise enjoyed playing peek-a-boo with Aunt Sheri. 

Annalise also loves holding on to the balloon and then letting it go and watching it go up to the ceiling. 

Also, my friend Ann stopped by to say hello.  I met Ann and her family one time when we were staying at the Ryan House.  She is here at the hospital with her son Jack.  She is the one who I first heard refer to this place as hotel PCH.  I like that!  When she came by, she gave me this necklace.   I love it!  

After work, John came by to stay with Annalise so that I could go to Ryder's End of Life Celebration.  It was beautiful.  Yesterday would have been Ryder's 3rd birthday.  It posted sideways here, but this is the program they had there.  Denise wrote the poem.  While at the celebration I saw many mutual friends.  It was a lovely night and I am glad that I was able to get away for a bit and be with Les, Denise, and their friends and family to honor such an incredible little boy!  

 While I was away, Annalise colored with her Dad.  

Also, her pain medicine began wearing off and she began having some pretty bad muscle spasms.  She threw up twice, once with John and once with me.   

Annalise's boots.  She choose pink and the lady who casted her decided to add the purple around the bar.   

 She keeps telling me that she wants her boots off!  It is so hard to see her so uncomfortable.  

 My poor baby had a really rough night the first night.  They ended up having to give her Morphine in addition to all the other pain medicine she was already on.  

It did help though and finally she was able to get some rest.  

It is now about 3am, Friday morning.  Annalise woke up about an hour ago in some pain, but other than that she has had a pretty good night.  Luckily they are keeping on top of giving her the pain meds and that is helping a lot.  I really like the night nurse tonight.  Not trying to be mean, but in my opinion she is much better than the one we had last night.  There is definitely a difference between nurses!

After getting Annalise settled back to sleep, I have not been able to get back to sleep, so I figured I would get up and finish off this post...then hopefully get a little more sleep before the sun and my daughter wake up.

Annalise woke up yesterday morning around 9 o'clock.  I figured she would take a nap during the day, but she ended up staying awake until almost 8:30 last night.  She had a few rough/painful moments through the day, but overall she seemed pretty comfortable...relatively speaking.  

Regression is always a concern with these kiddos because of the Leukodystrophy.  The only thing so far that I have noticed with her since her surgery is her speaking.  She is still babbling away just as much as she was before, but I am really having a hard time understanding her.  I hope and pray that it is just because she is on medication and that soon she will be back to her normal.  

 Watching some t.v.  I think that keeping this girl entertained is going to be the toughest part of the next few weeks.  She doesn't really like to sit and watch t.v. or movies a whole lot, so I am going to need to get a little creative.  Today we spent time reading books, coloring, and playing with some  toys.  

 We even got a few smiles out of her today.  

 She also discovered how to raise and lower her bed.  

She thought that was pretty entertaining.   

She also took lots of pictures with my phone.  Most were pictures of the t.v. 

Our view at night.

We were hoping to go home on Thursday, but they decided to keep her one more night to make sure she made it through the night without the extra pain medication or any more throwing up.  So far, she has done well, so hopefully we will be heading home later today.  I have friends who have had to spend many days/nights at a time in the hospital with their children.  I admire them and their strength so much.  We've only been here two days and I'm already going stir crazy.  Thanks to everyone for the visits, texts, prayers, and well wishes.  We have felt your love and thank you for that!   The prayers have been especially appreciated!  The strength and comfort that comes when so many people are praying for you is impossible to describe.  It has been a huge help to my baby girl and this very anxious mom! 

Families of children and young adults with disabilities were asked what they might have told themselves on the day their child was diagnosed. This is what they said.

Upcoming Surgery for Annalise

This coming Wednesday, September 5th, Annalise will have her first surgery and hospital stay.  Up until a few days ago when we met with the orthopedic doctor, we were planning on just an achillotenotomy which would be an outpatient surgery and only leave her with boot casts for 6 weeks.  However, as we, her physical therapist, and her physical medicine doctor feared, her adductors have also become so tight that she will need an adductor tenotomy as well.  This will require an overnight stay and she will be in a cast going from her hips to her feet and separated with a bar like this one      

that Bryce wore for 7 weeks when he had the same surgery done almost 2 years ago.  I am seriously not looking forward to going through this again!  I think the time in the casts will be especially hard for Annalise because she is still mobile...and she LOVES her bubble baths.  6-8 weeks without walking or taking a bath...she is not going to be a very happy camper!  We are really hoping that this surgery will release the tightness and pain that she has in her legs and hips and ankles.  We are also very hopeful that when the casts come off, Annalise will be able to walk a little easier and with less scissoring and pain than she has now.

Ryder and The Other Side of The Ryan House

I have written many times about how wonderful the Ryan House  has been for our family.  It is a place of respite where doctors, nurses, child life specialists, and many volunteers tend to the medical needs of Bryce and Annalise, and to the mental and emotional needs of our entire family.  I love that place and am so thankful to Ryan and his parents for opening the Ryan House here in Phoenix.  

The Ryan House is also a place where children can go to receive end of life care when that is what is needed.  The staff there provides support to the child and their family as the child moves from this life to the next.  It is a private time for them.  The other families staying at the Ryan House are not involved.  However, there have been two different times (that I know of) when we have been at the Ryan House while a family has said their final good-bye to their child.  Those times have brought many different emotions to me.  Neither of those families did we know well, one, not at all, and yet I felt a sorrow for them at the pain they were going through.  At the same time I felt joy for the child who was now able to run, laugh, talk, and play like other children, although I am sure they miss their earthly family as well.  One of these passings occurred while I was sleeping, but the other was in the middle of the day and although the staff does their best to keep other families from knowing what is happening, I knew what was going on.  I could feel it.  The veil between this life and the next is so thin.  I was not even in the room and I knew that there were messengers from Heaven who had come to welcome this young child back and to be with him throughout his new journey.  I could feel the spirit so strong!  

It was a wonderful feeling and yet at the same time a feeling of sadness, wonder, and even fear for the time that our family will be on the other side of that wall.  This past week, some very close friends of ours faced their time on the other side of the wall.  Denise, Les, Tyler, and Noah said their final goodbye to little Ryder last Wednesday morning.  They now know exactly how it feels  to be in that situation.  My heart aches for them.  I want to take their pain away, but I know that is not possible.  I do not have that power.  My only hope and comfort is that I know that in time, with the help of a loving Heavenly Father, they will feel peace again and that one day, they will be with Ryder again.  As long as we are on this earth, Ryder will always be missed and will be in our hearts forever!  We sure love you little man!

No News is Good News

Overall, that has been the case here.  Other than the horrible bout with croup at the beginning of the year, Bryce has been relatively healthy.  He even seems to have a little more strength than he has for a long time.    Yes, I am knocking on wood as I write this!  I am just so thankful that this has been the case.  The only thing we have been doing differently is that we have been feeding him more and more real food by way of a blended diet.  Although I have NO idea if this makes any difference or not, I like to believe it does! : )  I hope that he will continue to stay healthy as he begins his journey as a Kindergartner on Monday!

Yes, he will be starting kindergarten this coming Monday and Annalise will start preschool.  I am so not ready for school to start again!  I know they will both love it though, and that is what makes it all okay.  Annalise will be in the same preschool class as Bryce was for the last 2 and a half years.  It's nice to know the teachers already and  know that I like group there.  I was sad to hear that one of the aides there, Karen, has transferred to another school.  She was always so good with Bryce and even involved him in playing soccer with the other kids.

As for Annalise, she continues to move along...although a bit slower and more labored these days.  A couple of months ago, she and her oldest brother had Hand, Foot, and Mouth virus.  They ran a fever and had a mouth full of horribly painful cancer sore like blisters.  Although Annalise's symptoms seemed to clear up much faster than William's, she never has quite regained the strength that she had before she became sick.  For at least a month, I kept the hope that her regression was nothing more than lingering effects of the illness that she would soon "get better" from.  Unfortunately, it looks like that is not the case.  She is still able to walk in her walker, but for much shorter periods of time.  Her legs have become super tight again and she scissors constantly as she tries to move.  That along with her overall weakness makes it a challenge for her to move her little walker forward.  She will often walk for a very short distance and then say, "I just so tired, mommy.  I need you hold me."  We have had to use her wheelchair for her much more often when we are out.    It breaks my heart.  We are also having a harder time understanding her.  She slurs her words a bit more and has a hard time getting enough breath out to make the sounds come out at various times throughout the day.   Don't get me wrong though, she is still a little fighter and she continues to try hard to do everything she possibly can...by herself whenever possible!

I will be updating with some cute pictures and fun videos from our most recent trip very soon.  One funny thing Annalise did the other day:  we had just finished dinner and she was dunking the rest of her roll in her cup of water.  I cleared a few dishes and as I came back I saw her pour the cup of murky water right over her head.  As she sat there, hair covered in water and pieces of soggy roll, she said, "I take a bubble bath!"  She then picked up her peach slice that was sitting on her plate and running it across her hair, she said, "and now I combing my hair!"  She cracks me up!

More Information from Washington D.C.

I need to do a good update on Bryce and Annalise, but first I want to finish about our trip to DC.  There were a few others things that we discussed with Dr. Vanderver while in DC.  Sorry it has taken me so long to get to this update.  The first two are questions that I asked her and the last two are things that I had been thinking about, but that she answered before I even asked.

1.  What about Botox?  Is it safe for children with AGS?  She explained to us that the Botox in AGS children scare comes mainly from one family's experience.  She said that they have 2 affected children and had done botox multiple times.  The children also had multiple times of regression which were unrelated to the Botox injections.  However, after one of the Botox treatments, the children did regress and the family believes it is because of the Botox.

Dr. Vanderver and Dr. Evans said that they could not say whether we should or shouldn't have Botox done, but that they have many Children with AGS who have had Botox done multiple times without any issues.  They explained that it is an injection, so there are always risks, but that they have also seen huge benefits from it in these kids.  They said that if we do decide to do it, we should start with a small amount and see how Bryce responds.  They also gave us some other alternatives that we will discuss with our Physical medicine doctor when we meet with her again.

2.  I also asked if it is not AGS that Bryce and Annalise have, does she think that it is some other type of Leukodystrophy.  She didn't really answer that directly, but did give us some very interesting information.  She said that Leukodystrophy has become a word used to describe any disorder having to do with the white matter.  She said that she is on a team of professionals who are rewriting the definition of Leukodystrophy to make it much more specific.  These diseases with actually have another name...although I can't remember what that is.  She said that once that happens, many of the "leukodysrophies"  will no longer be a part of that group and that AGS is one that will most likely not "make the cut".  Very interesting!


3.  Will Annalise regress as far as Bryce has?  Not necessarily.  She explained that even if they have the exact same mutation, their symptoms and regression could be very different.  The reason for this is because of all the other Genes that make up who they are and how these genes work with the mutated ones.  So, that is very encouraging news!  It also helps to explain why Annalise has not regressed as quickly as Bryce.  Same disease...but still two very individual children!

4.  Should we continue to search?   What she had to say about this was very interesting to me.  The three main reasons that she gave as to why we should keep searching were the exact reasons I have for not wanting to quit and just take AGS as the diagnosis.  She did say that there are many good reasons why people sometimes quit looking although they do not have a sure diagnosis.  Many Leukodystrophies go undetermined.  Continuing to search takes a toll on a family.  It can be a very emotional, financial, physical, etc. burden on all members of a family and sometimes it is just better to enjoy the child and accept not knowing for sure.

However, in our situation, she assured us that if no deletion is found and we are still willing to keep searching, she will help us any way that she can.  She also said that as long as we are up to it, she feels very strongly that we need to continue to search...mainly because although our children have many characteristics of children with AGS, their MRI's/CT scans just do not look like that of a child with AGS...mostly because there is no calcification on the brain.  That is the one thing that has always bugged me about an AGS diagnosis.  Who knows, they may actually have something that can be cured!

Another reason to continue the search although we do not plan to have more children, is for the future of our other boys.  If we find out what Bryce and Annalise have, the boys can be tested so that when it comes time for them to marry and have children of their own, or if they begin to have any type of symptoms, they will know if they are carriers of a certain disorder.

And the final reason that she gave to continue to search is because if it is AGS5, they need to be monitored very closely.  Intracerebral large artery disease has been found in multiple children with the SAMHD1 mutation.  This has been known to cause fatal strokes, aneurysms, and hemoraging in these kids.  That right there is reason enough for me to find out if it truly is AGS5 and if so, to begin having our children monitored for this!