"I'm Baaack!"

So today was one of the most tiring, frustrating days that I have had in a long time. However, somewhere between the early wake-up, the toilet flowing over, the multiple wet sheets (by one child), the clean kitchen floor suddenly covered in something sticky (which of course nobody knows anything about), the phone call telling me that my husband would be out of town all next week as well, the therapies, appointments, and hour long session with Bryce's case manager where I had to explain over and over again the fact that no, Bryce is not going to get better, No, he is not going to be able to eat by mouth, walk, talk, etc. again (yes, even if we set a goal for that), yes, it really does take over an hour to get him (just him) ready for the day,  and everything else that happened today, something really cool happened.   After Annalise's useless appointment at CRS this afternoon, we walked across the street to visit the staff at  The Ryan House and to pick something up from there that we had left during our last visit.  Annalise was in her walker and as we went through the front doors, she looked around and suddenly threw her arms up in the air and said loud and clear, "I'm baaack!"  (She is 2.  Where does she come up with these things?)  She then proceeded to walk right in and all around the place like she owned it. It was so funny.  I wish I had had a video camera.  There were two staff members there who we have worked with before who had just come up to welcome us.  The one said that this had to be the best entrance she had ever seen.

The other cool thing was that while we were at Ryan House, we got to meet Ryan, yes, THE Ryan of the Ryan House.  He is a really sweet 10 year old boy with SMA.  He was in a wheelchair and instantly began playing and racing with Annalise.  Him in his chair and her running in her walker beside him.  He would then race up to her like he was going to run into her and stop just in time.  She laughed and laughed.  SO CUTE!  It was like they were instant friends.  There really is something special about these kids!  I didn't get any pictures, so hopefully we will get to meet Ryan again some day.  I did sign us up for a couple more visits for later this year though.  I LOVE that place!

Anna's New Walker

Annalise finally got her walker today.  The minute it came, she wanted to use it.  It has a little flexible seat in it which gives her a little extra support, but as you can see in this video, it needs to be adjusted.  She seemed to think it was great fun just to sit and roll herself around.  I'll see what I can do with it in the morning, but for now, she is having a ball!

Sorry that the video is a little unstable.  William and I were having a hard time controlling our giggles as we watched her roll around...especially when she beeps as she go backward.  The things she comes up with are hilarious!  

Today, our girl became just a little bit more independent!

Clear as Mud!

Sorry about the confusion that my last post has caused.  I've had a lot of people ask me what our latest news means and if it confirms that the kids are just carriers of AGS instead of actually having it.  So, here is a little more information, I don't know much, but hopefully this will help clear it up a little bit.

First off, the fact that they did not find a deletion does NOT confirm that they do not have AGS.   It just brings us back to maybe they do, maybe they don't. The genes causing this form of AGS (AGS5) were only discovered a little over a year ago, so there are still many unanswered questions about it.   Dr. Crow also believes that there is at least one other type of AGS whose cause (gene) has not yet been discovered...so that may somehow play a role as well.   So, what we do know for sure at this point is that John, Annalise and Bryce are definitely carriers of AGS5.   (We will need to have the other boys tested sometime in the future to find out if they are carriers as well)   We also know that carriers do not usually show symptoms or if they do, they show up later in life and much more mild than what Bryce and Annalise have, often it's inflammation and Lupus like conditions I believe.   So something more than just being a carrier is going on...either they do have AGS and we just haven't found out the other defective gene, OR it may be some other type of LD which is not currently able to be diagnosed through testing, OR, it may be completely coincidental and they could have something totally different that just looks a lot like AGS Leukodystophy.  Clear as mud?!  I thought so.  = ) Hopefully that helps some.  The fact that it is not totally clear to me makes it really difficult to explain it and have it make sense.  Basically though, the bottom line is that we seem to have stumped the experts yet again and we really don't know any more today then we did 2 and a half years ago when this all started.   ...and so the journey continues!

News from England

I received an email from Dr. Narayanan this morning stating that Dr. Crow had just emailed him saying that no deletion was found in the children.  Totally not what I expected to hear.  Dr. Crow is going to think about it some more and get back with us.  Dr. Narayanan said he will be doing the same.  So...the mystery continues... Sure wish I could know what is going on with my babies. 

No News is Fun News

Well, it's been quite a while since I have updated here.  Luckily things have been going well overall.  The end of July we spent some family time in California and then the second weekend in August, we spent some time at the Ryan House in Phoenix.  Both trips were fantastic.  I have been working on blogging the full story of both trips on our family website, but here are a few fun pictures.  If you want the whole, long story you can visit www.lifeontheclaytonfarm.blogspot.com  Hopefully soon I will get all the pictures up there.

Bryce loved everything about the ocean from the first moment. 

Bryce and Jacob resting on the beach. 

Annalise warmed up to the water once she saw her brothers having fun in it.  She wasn't so sure at first. 

On the pier at Seal Beach.  Bryce was too busy looking at everything around him.  Couldn't stop to look at the camera. 

The Ryan House was amazing!  There were many wonderful people there who enjoyed playing with our children and making sure they had a fun time while Mom and Dad got some much needed rest.  We are already looking forward to our next visit! 

Spencer sporting the treasures he found in the dress up box.  All three of the older boys enjoyed dressing up...especially in the pretty pink clothes that they had.  Lots of fun stuff that we just don't have around our house. 

Annalise sharing a pop tart with Dad in the amazing Kitchen.  I fell in love with the kitchen here. 

Bryce with Kasha, one of our favorite people at Ryan House! 

One of the therapy dogs that visit while we were there. 

Jacob and William trying out the helicopters they made in the art room.  They are standing on the top of the wheelchair accessible play structure in the court yard.

Annalise LOVED this little car!  It was a great way to get her around the place.

Those were both good trips that will provide us with lots of great memories.  Once we got back from Ryan house, real life began again.  The boys are all back in school now. =(  Bryce, as usual, is loving school.  His teachers, aids, and therapists are all so amazing.  He is in the same preschool class as he has been the past year and a half.  I can't believe he will be starting Kindergarten next year and Annalise will be going to this same preschool!  

Last week Annalise had an appointment at the wheelchair clinic and one with a developmental pediatrician.  We were able to order a stroller type chair for Annalise that should be here within a few months.  Hopefully her walker will come this week.  She is still walking some, with help, but it continues to get harder for her.  Hopefully the walker will arrive while she is still able to use it!  Her favorite phrase right now it, "kick the ball".  She often wants to walk around the house while holding my thumbs (she has her own, exact way of doing this), while "kicking" a ball.  I need to get someone to video her doing it.  She has also gone to a little frog hop in order to get around.  She doesn't really crawl anymore.  Her upper body strength is just not enough.  She just moves her arms forward and hops her backside up.  What is cute, is that she has started saying, "ribbit" as she hops. I guess because people always say it looks like a frog hopping.  It is super cute although sad at the same time.  

She is beginning to really struggle with feeding herself as well.  I have ordered some adaptive dishes, silverware, and cups that will hopefully make it a little easier for her.  She will work at it for a while and then say, "Mommy's turn" and hand the fork or spoon to me.  She always wants to at least try on her own first though.  We have to watch her really closely too since she has begun choking on some items.  Water is the worst right now.  We will need to start thickening her liquids soon I'm guessing.  She continues to talk up a storm.  She is babbling most all the time.  Sometimes we can understand her and sometimes we just listen and answer as best we can.  She has learned quite a few signs that come in very handy.  She is so much fun to be around!  She has quite the little sense of humor.  The boys just love her to pieces!

Bryce has been doing really well over the last few months.  He has remained pretty stable, which in the case of Leukodysrophy, is a great thing!  We are currently waiting for a new seat shell for his power wheelchair.  Unfortunately it is unusable the way it is right now.  It is also a bit too hot right now to be outside working with him in it, so I think once it gets cooler and we get the seat, we will begin again.  

Bryce had an appointment today at the spasticity clinic.  They are going to keep his meds the same for now.  They are talking about doing Botox in his arms to help with that, but I have read/heard that botox can be very dangerous in children with AGS, so the doctors are going to do some research first.  I'll be doing a bit of my own in the mean time!

When I was loading Bryce into the van today, I saw Dr. Narayanan coming down the stairs of the building.  He came over to the car and talked with us for a while.  He asked how the kids were doing and said that he hasn't heard from Dr. Crow yet.  He said that he will email him this afternoon and see what he can find out.  Hopefully we will hear something soon.  

The Ryan House

www.ryanhouse.org

We are enjoying a wonderful, restful, weekend away at the Ryan House.  This is our first visit and we are so thankful for all of the staff and the many, many volunteers that make it possible for our family to enjoy a weekend away full of respite and fun.  Pictures of our California trip and our Ryan House weekend will be coming soon.

Just got an email from Dr. Narayanan saying that Bryce and Annalise's forms and blood samples have arrived in England.  Hopefully we will hear more soon!