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!

Bryce and Annalise video

Here is a link to the video that they played at the fundraiser on Saturday for Bryce and Annalise.

http://www.youtube.com/watch?v=gH_EhYMn4ds

Feel the Love...Finish Strong!

What an incredible day we had yesterday!  I planned to write this post last night, but ended up falling asleep while putting Bryce to bed and didn't wake up until 5:00 this morning (still fully dressed in yesterday's clothes)!  Everyone slept through the night which is a miracle in and of itself.  I guess we all wore ourselves out during this wonderful event!

I want to say thank you to everyone who had a part in the Finish Strong fundraiser for Bryce and Annalise.  The items that were donated were incredible!  The turnout was astounding!  The generosity, love and support that we felt were very humbling!

There will be many more pictures coming and a full story on the day, but for now, we just want to send out a

huge, heartfelt

Thank you

to all of you!

Sometimes I Hate

I know many people do not like to use the word hate.  In the past I have even been known to tell my children, "we don't hate".  But today there is something I hate.  It is this horrible disease we call Leukodystrophy!  Although there is so much good in our children, there is NOTHING good about Leukodystrophy!

Leukodystrophy has taken the lives of two more children!  A sweet baby girl just 6 months old, and a beautiful 6 year old boy.  The 6 year old had AGS and passed away after a three week battle in the hospital due to a respiratory infection.  My heart goes out to their families.

Once again, these children are children that I only got to know through the internet and yet my heart hurts for their families and for the short lives they had here on this earth.  I dread the day that one of my close friends loses a child to this horrid disease, or the day that one of my own children no longer has the strength to overcome something like a common cold and I have to tell them good-bye.  How do you ever prepare for that!  Oh how I hate, loathe, despise this disease!

Reasons You Should Think Twice Before Messing with a Special Needs Mom

A fellow special needs Mom shared this on Facebook so I thought I would share it here
.
REASONS YOU SHOULD THINK TWICE BEFORE MESSING WITH A SPECIAL NEEDS MOM
1. Some of us have given up on social skills and don't care what we say or do.
2. We're not afraid to have A serious "meltdown" of our own.
3. We are tired and all the patience we have is for our kids
4. We have A far shorter fuse for nonsense as a result of our responsibilities but A FAR thicker skin.
5. We can get you in a hold/lockdown position in less than 3.5 secs.
6.We can shoot you a look that would make a linebacker tremble in his boots.
7.Chances are it's been awhile since we've had a full night of sleep and that will give us a reason to plead insanity.
8. Our tolerance and patience is for our kids who didn't choose to have special needs, not for someone who CHOOSES to behave inappropriately and is ABLE to control their actions.
9. We're probably already on edge and it would be stupid to push us over.
10. We are sleep deprived and already defensive, and we spend all of our patience on our children, doctors, therapists, social workers and teachers, why would we waste an ounce of it on a total stranger?
11. We've had to fight from the moment of our child's birth so by the time you make us mad we're seasoned battlers and could win a war.
12.We devote our lives to our children and don't need more stress and people who don't understand our life.
13. Wherever there is a cub, there is a mama bear...We're always watching!