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!

Doing Better

It's been a few days and I thought I should let you all know that Bryce is doing much better.  He ran a low grade fever on Wednesday, but after taking a 4&1/2 hour nap in his chair, he woke up happy and fever free.  He continues to struggle with a small cough and is a little more tired than normal, but other than that he seems fine.

After he had been asleep for about an hour today, I heard him cry a little so I went in to check on him.  He just looked so cute and I couldn't help climbing into the bed next to him so that I could snuggle him for just a few minutes.  He curled right into me and looked up at me and grinned.  I loved that moment!  I then asked him if he wanted to get up and he shook his head just slightly from side to side so I asked him if he wanted to sleep a little longer.  He put his eyes up...which is his way of saying "yes" and then curled into me again and fell back to sleep.    So sweet.  I just love that boy and I just live for moments like that!

Change of Weather, Change of Health

The weather here has definitely become the nasty hot that we as Arizonans endure so that we can have beautiful weather throughout the rest of the year.  (At least that is how I see it!)  We have had some amazing Thunder storms the last few nights and the rain has been wonderful.  However, the change in weather wreaks havoc on my poor little one's bodies.  First of all the thunder and lightning terrifies Bryce so he and I have spent some quality time together through the night cuddling, counting, and singing to get through the storms.  The change in the weather also seems to affect their spasticity and causes their muscles to become tighter and more painful.  We do lots of stretching, massage, and of course pain medicine during these times.

The scariest symptom of weather change for Bryce is croup.  The wind, the dust, and the rain seem to bring it on every time.  Last night we ended up heading to the ER with him.  Just as I was heading to bed, he woke with croup and after doing all the "normal" things we do to help, he was still having a lot of trouble breathing and was still a bit blue.  We had our neighbor come over and John, Bryce, and I loaded up and started heading to the hospital.  As we drove, Bryce's breathing became a little lighter and he was able to relax some.  His color came back and by the time we got there, he was not struggling as much.  After seeing all the other people in the ER, we decided to just sit out in the humidity a little longer and see if Bryce would continue to breathe better on his own.  Luckily he did and we decided that it would be better to take him back home and continue with our own breathing therapies rather then take him in and expose him to something else in the waiting room.  We prayed some more, hoped it was the right decision, and headed home.

He and I spend the rest of the night sleeping upright on the couch.  Luckily he made it through without too many more issues and he seems to be even better this morning.  He is still pretty croupy, but at least he is breathing better.  He was scheduled to get new AFO's this morning since he has outgrown his others, but I changed that appointment and hope to just spend the day here and maybe get a little nap in this afternoon!

Still Waiting

Today Bryce and Annalise had an appointment with their neurologist.  I was anxious to see if he had heard anything from Professor Crow in England.  Well, he hasn't, but the reason he hasn't is what has me a little perturbed tonight.  The consent forms that I rushed in to sign over a month ago and the samples of the DNA have not yet been sent to England!  UGH!  He had a few different reasons for not having sent them, but the result is the same...nothing has been happening in the past month while we have been sitting here anxiously waiting for some word from England.  Dr. Narayanan said that he will send it off this week, so hopefully that is the case.

I guess I can't say that nothing has been happening since Dr. N and his team have taken a look at the RNA and compared the strands, but were not able to see any discrepancies in them.  He wasn't sure that this method would work, but gave it a shot anyway.  Hopefully now, he will just send off the info so that Dr. Crow can have a stab and it.  Sometimes I wonder if we will ever really know for sure what is going on with our little ones.  Kind of discouraging.

While we were at the office, Dr. N did put in a referral for Annalise at the wheelchair clinic and also with a speech therapist there for a feeding evaluation and swallow study.  I am so not looking forward to start swallow studies with her.  They were always horrible for Bryce.  She is having a harder time with chewing and swallowing though, so I guess it is best to check and make sure there is no aspirating going on.  I will be taking her in on Friday for a weight check as well since her weight gain had slowed a bit at her 2 year well check.  Hopefully she has gained and everything will go well with the swallow study so that we can continue on as we are in that area.

While waiting for the doctor today and throughout the appointment, Annalise kept wanting to "walk" around and Bryce wanted out of his chair and was super squirmy.  I was so glad that my sister had met me there to help.  When my sister brought out her phone to help entertain them, they both started squawking because Bryce was trying to see and Annalise wanted to hold it.    Dr. Narayanan at one point commented on how full of energy Bryce was and I thought again of how frustrating it must be for him to have all the energy and desires of a 4 yr old locked up in a body that he cannot use to move, run, or even speak.  It seriously is so unfair to him.  While walking the halls with Annalise, I saw a couple of 4 yr old twin boys playing together and laughing while their mom tried to keep them quiet and in one place.  They were having so much fun together.  The reality of what my boy is missing out on really hits when I see others his age and realize what he should be doing at this time in his life.  It's strange to imagine what he would say and do if only he was able to.