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!

Our Visit with Dr. Vanderver

We left early Wednesday morning to fly to Washington D.C.  Although neither of them slept at all during the  flight, Bryce and Annalise did a great job on the plane.

Bryce loved watching the luggage fall onto the carousel.  He would laugh each time one came down.  

Other than an unexpected adventure as we headed out of Baltimore and into Washington D.C, the trip went very well.  We spent most of the day Thursday (from 8:30am to about 5pm) at Children's National Medical Center.  We did get a lunch break where we enjoyed a complimentary (thanks to the team of doctors we were working with)  lunch in the cafeteria.  The picture below is taken right inside the entrance.  The kids both loved looking up at the Hot Air Balloons.

The place was very comfortable (for a hospital anyway), and the people we worked with were phenomenal.  It was a long day but we got what we were looking for.  No, we still don't have any definite answers as to what is going on with Bryce and Annalise, in fact if anything, we may be heading back to square one, but we do have a few new game plans.  We got a lot of questions answered and some ideas for other medications that may help with Bryce and Annalise's spasticity and pain without the negative side effects we have seen along the way.   The physical medicine doctor, Dr. Evans, also helped us "fix" Bryce's chair since it has not been doing it's job well and it was really bothering one patch of skin after being in the chair more than normal while traveling.  Since being home, I've made an appointment with the wheelchair clinic here to take care of the other issues with his chair.  

Okay, so what did we find out from Dr. Vanderver and where do we go from here?  Bear with me, I have a feeling this short version is going to be kind of long.  After looking at Bryce and Annalise's MRI's, CT scans, and records (which she did  before we even got there) and examining the children, she said that she would not say that they do not have AGS, but she is also not willing to say that they do have it.  She said that if they do have it, it is not a classic case of AGS.  Although their symptoms do look a lot like AGS, their MRI's and CT scans do not!  We know that they are carriers of AGS, and she said that in extremely rare cases, children with AGS can show symptoms with only one gene mutation, but that since John is also a carrier...and has no symptoms...this is very unlikely to be the case with our children.

So, the first plan is to search just a bit further to see if it is indeed AGS.  There is a place in Denver that checks for deletions.  It is similar to what Dr. Crow in England did a while back, but their method of searching is different and thus worth trying that route.

The other thing she said that we could do is to send some spinal fluid from the kids over to a researcher in Paris...the only person in the world who does this specific test for AGS...and have him test it.  However, getting spinal fluid is much more difficult than drawing blood and since both of the children have had it taken before, she called to find out if either of the children had "left over" spinal fluid that we could use for this test.  Annalise did not, and Bryce did.  However, Bryce's was drawn back in 2008 and so the numbers could have changed drastically since then, making that fluid really not useful.  So, Dr. Vanderver suggested that we see what we find from Denver and then go from there.

Most likely the next step will be an entire exome sequencing.  She believes that this is actually the best next step considering what she has seen in the children's records and MRI's.  She said that they look very unique.  They just don't call out to her any specific disorder, especially one that has not already been ruled out by tests  that we have had done in the past!  This really means something coming from her, because as the genetic counselor told us before we even met with Dr. Vanderver, she (Dr. V) has a sort of gift for reading MRI's.  In about 25% she looks at the MRI and just knows what is causing the problem, in about 50% she doesn't know for sure, but has a pretty good guess and is usually right, and in the other 25% she really just can't tell.  We of course are in the other 25%!

The good news about the exome sequencing is that it has come down in price considerably over the past months and many insurance companies are beginning to pay for the sequencing.  The bad news is that the sequencing is actually the easy part and what ends up costing a lot and taking a lot of time is the analyzing of the data that comes back from the sequencing.  And in a case like Bryce and Annalise, the people doing the analyzing, don't really have a starting point.  They don't really have any "short cuts" they can take by what we already know.  They would just have to go through it piece by piece and that could take years and lots of money.  However, with all things considered, this looks like it is going to be the best...and possibly the only other option at this time...unless of course the people in Denver find something.

So, that is where we are at now.  While there we had blood drawn from all 4 of us and we have been added to a research study that they are conducting.  The children's blood has been sent off to Denver and so we now wait to see what comes of that.  Dr. Vanderver will be sending us a copy of all of her notes from our visit there and all of their suggestions which will be very helpful, since I am sure we have already forgotten many things that we talked about while we were there.  They are also going to continue working with us through our neurologist here, and helping us in any way that they are able to.  As of now, we do not have any plans of going back to their office in D.C., but that may be something that we will need to do in the future.

So, the mystery continues for these two little fighters.  It's really tough not having answers, not knowing what is causing the regression, not knowing what to watch for, not knowing the prognosis, not knowing what we can do to help, not knowing what to research, not really having any idea of what the future holds for our special children. 

I have decided that for now, since we don't have any concrete evidence that either of these two is going to leave us anytime soon, I am going to believe they will be with us for a very long time and I will work hard everyday to make sure their life is as happy and healthy as possible...all while maintaining as "normal" of a life for the rest of our children and our marriage as we can.  It is definitely a balancing act!  It is super hard every single day and would be completely impossible to accomplish without your prayers, support, and the constant help we receive from the Lord.  Thank you!

Medical Updates

2 appointments, 2 kids, 2 different places, one at 9am and the other at 9:30...it was an interesting morning!  Thanks to my Mom, it all worked out quite well.  I dropped her and Bryce off at PCH for his GI appointment and then headed over to CRS for Annalise's orthopedic appointment.  Luckily, we both finished up about the same time, so that worked out well.

About a month ago, Bryce had a weight check and had lost weight so they increased his calories and had him check in again today.  I'm not sure what his weight was today, but they have kept his feedings the same.  We do have to go back for a weight check in 2 months and then see the doctor a month later again.  His weight is always up and down, but he is holding his own pretty well.  Dr. McOmber was impressed again that the green smoothies that I have been feeding Bryce (through his tube) continue to keep him regular enough to stay off of Miralax.  He always gives me a bad time about it (in a joking way), but told my Mom today that he has other patients that he sees who could really benefit from something like this and he thinks I should share the info with them.  I would be happy to do that.  I love those green smoothies.  I also like that he is seeing them as a good thing.  Maybe as I talk to him more about switching Bryce to a "real food" blended diet rather than the formula he is on now, he will be open to working with me on that too!

Bryce's other appointment this week was with at the Spasticity clinic.  The doctor he sees there really wants to use botox to help loosen up his arms.  I don't really like the idea because so many people who have kids with AGS have had it done and then seen regression in their children.  I don't know if it is really worth the risk.  She increased his Baclofen a bit, so I think I will see if that helps at all first.  Hopefully the increase will not mess with his breathing like it has sometimes in the past.  She set up another appointment for 3 months and said to give her a call if we decide that we want to do botox before then.  Oh, decisions!

As for Annalise, it looks like she will be having surgery to loosen her Achilles tendon.  Her little legs are so tight, it is hard for her to walk.  She also had an appointment this past week at the spasticity clinic and they started her on Baclofen as well.  I have been able to see a bit of a difference, but not a whole lot yet.  The orthopedic doctor that we met with today said that it might help enough that we would not need to do surgery, but he thinks we should go ahead and schedule it and then I can always cancel if we decide that it isn't necessary.  She is not even able to wear the AFO's that are used to help stretch that tendon because even if I can stretch her enough to get her into it, her foot pops out because it is so tight.  The tightness and the rubbing the wrong way on the AFO's cause her pain, so maybe the surgery is going to be the best.  It is the same type of surgery Bryce had for his hips, just a different area.  That surgery helped him a ton!

Annalise also had an evaluation for an Aug Com device.  She still talks well for the most part, but there are times when she fatigues and resorts to pointing, signs, or trying to speak although we are not able to understand what she is saying.  Her speech therapists thinks we should go ahead and get her the device now so that she can use it when she needs it now and then when/if the time comes that she loses the ability to talk, she will already have another way to communicate.  The people who did the evaluation thought the same thing and she will be getting her own device withing a few months.  They tried out 3 different devices and since her upper body strength was too weak to push the buttons on two of them, she will be getting an iPad with the communication apps installed into it.  I'm pretty sure that her older brothers will think they need a "communication device" too when they see what she has.  :)

And last but not least, some very exciting news.  Tickets have been bought and all arrangements have been made for us to meet with Dr. Vanderver in Washington DC. in April.  We are really looking forward to meeting with her and hearing what she thinks about Bryce and Annalise's condition.  I already have a list of questions for her that I am sure I will add to as time goes on.  It will be so good to meet with someone who knows about AGS and other leukodystrophies and to get her opinion.  She also works with Professor Crow, the doctor in England that has been working with us, so that will be helpful as well.  Hopefully we will come home with a few more answers or at least some new ideas of what to watch for and be aware of as we try to help Bryce and Annalise through all of this.

March 3, 2012 FINISH STRONG!

The morning was beautiful.  As we arrived, we could already tell that the place was full of people.  We had hoped to get there a little early, but we didn't quite make it until just before 8AM.  The parking lot was already full of cars.  Balloons and banners greeted us as we entered.

The Run

It was very humbling to realize that all of these people, some we knew, many we did not,  had come out and were running to support our children.

John finishing his first 5K!  Great job!

I was so proud of William and Jacob.  Along with some friends from church and some from school, they completed their first 5K!  Way to go boys!  Their PE teacher from school, Mr. Palm, was there.  He gave dress down passes to everyone in the school who ran in the race. 

The morning started out a little rough for Bryce, Annalise, and Spencer.  I'm not sure if it was the time of morning or the crowd of people, but we had a few tears and some anxiety to start off the day.  I was a little concerned, but luckily a great breakfast of pancakes, bacon, and milk (along with a little TLC from some of my life savers Dacia and Heather) seemed to do the trick and soon they were all enjoying the festivities.

Christopher, Spencer, William, Jacob, and Nathan. 

There were silent auctions that went on throughout the day as well as a live auction toward the end of the event.  Many, many wonderful items were donated for the auctions and people were very generous.

The kids all seemed to enjoy the bounce houses.  Bryce was no exception.  He loved sitting at the end of it and watching the kids slide down.  Thank you Chris for helping him enjoy the day!

John and Annalise sliding down the slide.

The cotton candy was also a place that attracted many people.  

The line for the cotton candy.  I think our boys hit that line a few too many times throughout the day.

Even Annalise got to taste cotton candy for the first time.  She wasn't so sure about it with the first bite, but she tried it again and was hooked!

Yes, it truly was bigger than her head!

My mom, Bryce, and my sister Sheri.  

I'd say Bryce was very happy to see Aunt Sheri!  She is definitely one of his favorite people. 

Brother Cooper from our bishopric and his family took Annalise around for a while.  Here they are looking at the pony.  Bryce and Annalise both got to have a ride on the ponies!

Most of these photos, including the ones here of our family, were taken by my friend Erin from The Treasure Box Photo Studio.  She did a fantastic job!  Thank you Erin for donating your time and talents so that we can have pictures to help us remember this incredible event!

Our strong, Sweet Annalise!

William and Jacob

Our strong Bryce

What strong (and handsome) young men!

The strong Clayton family!

We are strong because of the many hands that hold us up and support us throughout our days!  Thank you!