Natural History Study

Abby had a visit with Dr. Percy and Jane Lane last week.  We see them every 6 months as a part of the Rett Syndrome Natural History Study.  They collect data on Abby and we get a chance to talk about any concerns we are having with Abby.  It's so great to talk to doctors/nurses who know Rett Syndrome.  I think Abby is developing a crush on Dr. Percy.  She giggles nonstop every time we see him.  She has a way of falling on people when she wants them to pick her up.  He had to hold her....a lot. She's a flirt.  

Overall, they think she is doing well.  Like us, they are excited for her to get an eye gaze device.  They want to check her calcium and vitamin D levels because she has had a couple fractures this year.  Although her anxiety has increased a lot this year, they don't think its at the point of requiring medication at this point.  Its good to know that they have seen success with medicine though, in case her anxiety worsens. I attribute a lot of her not-swallowing episodes and not-walking episodes to anxiety, at least partially....I think.  It hard to tell.      

There are some concerns that she is getting a curve in her spine.  Bummer. We know the likelihood of scoliosis in people with Rett is very high, but we were hoping to avoid it.  It doesn't seem to be the case though, as she is leaning quite a bit to her right lately.  She has an appointment for an x-ray scheduled in a few weeks.  Dr. Percy noticed that one of her legs appears a little longer, which could cause her to lean.  Hopefully that is the case, but an x-ray will give us a better picture of what is going on. There was another time that her doctor suspected scoliosis, but an x-ray showed that her spine was straight. I am really hoping that is what happens again!!!  

Another concern is her BMI.  It has been decreasing for a while, and is now 13.8.  We were told that it needs to stay above 13 to avoid supplemental tube feedings.  To keep it from getting that low, they suggest two nutritional drinks per day that are high in fat and calories (Boost Kids Essentials 1.5).  We have tried this before, but the high fat drinks aggravated her reflux.  We're hoping that we can increase calories and fat without causing other issues. We may have to adjust her reflux meds, but surely we can figure out a way to get some weight on little miss skinny.

It wasn't the "everything's looking great" kind of visit, but we got some good information and have a few steps to take to get things moving in the right direction.      

Rett Syndrome Featured on ABC's The View

Rett Syndrome was in the spotlight yesterday, as the Gutierrez family spoke openly about how the disorder has affected their daughter, Anna. Monica Coenraads, from the Rett Syndrome Research Trust, was also there to comment. Hopefully, the exposure will lead to an increase in giving and awareness, and a closer date to our treatment or CURE!!!

Happy Birthday Logan!

In the past, Logan's birthday's have been a little...eventful.  He was born right before an ice storm that left us without power in freezing temps. for over a week.  We had to pack up Abby and a 4-day-old Logan and stay at a hotel.  Not fun.  

We didn't do too much for his first birthday.  Abby had her first seizures that week, and we had spend several nights at the children's hospital trying to get them under control.  When we came home, we weren't much in the mood for celebrating and we didn't want to overstimulate a very drugged-up Abby, so we canceled his party that was scheduled for the day after we came home.  Not fun. We did have a get together a few months later, but still...

But this year was great!!  I think 2011 is going to be our year.  Logan had a party with some of our family on Saturday, and shared another birthday party at Gattiland with his cousin, Kaden, on Sunday.  Two birthday parties=lots of fun! He had a blast!  I think he is still on a sugar high from all the cake.

He got lots of balls for his birthday, of course.  The sports obsession continues.

I am holding Abby up, obviously, and Logan didn't turn 28. He shared a party, and a cake. Happy 8th Birthday Kaden! 

Little boy in a big bed

Logan absolutely LOVES the book his aunt Victoria made for him.  That's right, she made it.  It's a great book about sports that has lots of things to manipulate in it.  This is his favorite page...so far.  He loves moving the basketball in and out of the net.  Thanks Aunt Victoria!      

I am so thankful that the weekend could be all about Logan.  Abby didn't seem too upset that Logan was getting all the attention.  Well, maybe not all the attention....

Back on the horse!

Abby had hippotherapy today for the first time in over a year.  She is receiving occupational therapy in a clinic for 30 minutes, and then her therapist puts her on the horse for another 30 minutes.  I'm thankful that she was able to get the same OT that she had before.  Katie is great with Abby and already knows her needs.  As you can see, Abby was pretty excited.

 

Her  OT goals are to restore hand function to the level that it was prior to her breaks (bring drink to her mouth, grasp food and bring to mouth, etc.) and increase ability to bare weight on her arms. I hope that being on the horse with help with her walking by increasing her balance, strength, and flexibility.

Abby seemed genuinely excited to go to therapy today.  She had quite a few meltdowns last year when we had hippotherapy and did not hesitate to let us know when she was finished with both the horse- and the therapy.  That was not the case today, and I'm hoping that she continues to enjoy herself.  

I was surprised to see that the other little girl riding in the arena with her also has Rett Syndrome.  What are the chances of that?  I have only met a two other kids with Rett in this area. I'm looking forward to chatting with her grandmother while the girls get a work out.    

Good Bye Naps!

Abby is just about finished with naps, unfortunately.  She will sleep on a car ride, but even then its just for a few minutes.  She will lay in her bed and have some down time when she gets home from school, but, again, only for a few minutes. She's just over it for now. 

Here's a few photos of her sleeping over the years.  I love photos of her sleeping.  I actually have a whole file on my computer titled, "Abby sleeping".  She falls asleep in the strangest position and places. Even so, she looks so peaceful, like her body isn't going crazy.

Yeah, she slept in a laundry basket sometimes.  It was clean and new, I promise.

Abby always sleeps in the car.  It is usually the only nap she takes anymore.  They are short, only a few minutes, but at least it is something. 

 Abby had an invisible-to-the-rest-of-us rash on her bum for about 2 years that she could not get relief from.  We used ointments and usually put onsies on her to sleep in so she wouldn't scratch all night, but nothing seemed to help.  On this particular night, I forgot the one-piece pajamas. She woke up in the morning with her hand in her pajamas. Funny.  

at the strollathon...sleeping

We knew it was time for a bigger bed

She went through a phase where she could still sit up, but she couldn't lay back down.  It was weird.  She also went through a phase where she could stand up, but couldn't get back down.  She would fall asleep sitting up, and just fall over.  The motor planning issues were a sign of things to come. 

Good bye, nap.  I will miss you dearly!  

Gym time!

When Abby was younger, we used to take her to this local gym to play.  It is a huge fun dome kind of place with trampolines, inflatables, tumbling equipment, foam pit, and much much more.  Oh yeah, and open gym time includes a hundred running and screaming kids.  It is not surprising that Abby didn't love it.  She put up with it, as she almost always does, but she wasn't overly enthusiastic either.  We weren't fooling her.  It was therapy.

I have been meaning to take Logan for a while.  I knew he really would love it, which he did.  He joined in with all the other typical kids jumping and climbing and running.  I was pleasantly surprised, though,  at how much Abby enjoyed herself.  She especially like walking on the bouncy floor.  I think it is meant for tumbling, so it has a little bounce in it.  She walked so well on it.  I am thinking I need this floor in my house.

That would be great.  




After this video plays, advertisements for other youtube videos show up, some of them not so appropriate.  Is there a way to stop that from happening?

And Abby is sporting a new haircut thanks to her Nonnie!

Fun Fun Fun!!!

Good bye 2010!

This has been a rough year for Abby's little body.  Many of the scary Rett things that I hoped she would never face have presented themselves this year.  It has become clear that Abby does not have the mild case of Rett that I told myself she had, if there even is such a thing.  After the year she's had, denial is no longer an option.

I didn't completely lose it though. Even though I am up to my eyeballs in all things Rett, I am not nearly as overwhelmed as I was at this time last year.  As Abby's symptoms increased, so did our understanding of her disorder.  I went to my first IRSF conference, met with a long list of specialists, and formed relationships with other Rett moms. Sharing this journey with others who "get" our girls has made all the difference.  It is still sad and frustrating. There are still many times where Rett Syndrome keeps me up at night, but my goal this year is not to obsess over every thing that Abby does that's not normal.  Abby has Rett and her body doesn't work quite right.  Now, that's the understatement of the year.  Even so, there are things we can do to help it work better.  So we will do those things.  Worrying like crazy is not one of those things, so I'm going to try not to do it.  I'm going to try to be positive.  Even as I write this, though, I am struggling not to think about what more Abby will lose before this time next year.  Ugh.  It's a struggle, but I'm trying.

The good thing is that Abby's spirit has not taken the beating that her body has.  She remains the happiest little girl I have ever seen.  She has become less frustrated this past year and she seems more comfortable in her skin.  Over the holiday, for instance, when she got overstimulated, she took a nap. It sounds simple, but it that has not always been the case.  In the past, she would have screamed, cried, and bitten me or anyone else holding her. There would have been a routine of singing particular songs or playing certain movies to calm her down.  If that didn't work, we would have left.  This year she just fell asleep.  It was awesome.  

She fell asleep in the middle of all the action at nearly all of the family gatherings.  I was so happy for her I took photos.  

Despite her Rett issues, she seems comfortable, and I am so thankful for that.  I am also thankful that Logan is healthy and happy.  He has changed so much this year.  He has become a sports fanatic and a comedian, always keeping us laughing. This is what happens when he is asked to smile.  He cracks me up.  He will be two in January.  Unbelievable.

While there is much to be thankful for in 2010, I am looking forward to 2011.  I think Logan has spent the past 12 month in an early version of the "terrible two's", so I'm thinking this year will be a breeze, right?  I am excited for Abby to get more ways to express herself and I can't wait for the research breakthroughs that this year will bring.  I really hope a treatment happens soon for our girls.  I hope research gains even more momentum this year and a treatment will be available SOON!!!