Hello. My name is Abby. I'm eight years old and I was diagnosed with Rett Syndrome when I turned two. My parents work hard to help me make sense of the world around me and this blog is meant to help others understand my world and my journey with Rett Syndrome.

Tuesday, December 28, 2010

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!!!

Monday, December 27, 2010

Abby at the Movies

I finally took Abby to the movie theater.  She led me to believe that she wanted to see Toy Story a few months ago, but we never made before it left theaters.  Last week, my parents were able to keep Logan for a couple of hours, so Abby and I went to see Tangled.  I'm so glad I took her.  She really seemed to enjoy the whole movie experience, including the dark theater, drinks, and snacks.  She slept for a few minutes during the movie, but paid attention for the rest of it.  Her favorite part seemed to be the music, which doesn't surprise me at all.  She looks pretty happy! She kept looking at me during the show and smiling.  She definitely enjoyed herself. 

I was a little concerned that she might be loud and distracting during the show.  Sometimes, Abby gets loud when she gets excited.  That was not the case during the movie trip.  She he was not loud at all.  In fact, she was very quiet, a little too quiet.  Now, I am used to quiet when it's just Abby and myself.  I talk, of course, but thats it.  I ask questions and try to get a response by eye gaze or yes/no cards, but it is just SO quiet.  It may not have been so bad had we not gone to a movie with hundreds of chatty little girls.  Its tough because it makes me see so clearly how much girls Abby's age have to say.  What does she want to say?  I have no idea.  We are making progress towards getting her a device that will help her express herself with eye gaze, so that's a very good thing.  During the movie, however,  I just really wished she could have turned and told me something....anything.    

It does help that she wore that huge smile the whole time we were out, though.  You gotta love that.

Monday, December 20, 2010

Christmas parties and Fire Trucks

Today Abby, Logan, and I went to a Christmas party at the center where Abby gets some of her therapies.  It included a visit from Santa, singing, and a puppet show.  They both loved the show.  The puppets danced to Christmas music.  It was so cute!  Of course, they also liked getting a gift from Santa.
After the show, however, I had a bit of a problem.  First, let me just say that it was cold out...very cold...and the ground was covered in ice.  Now, I was offered a hand getting the kids out to the car, but of course I didn't need any help.  Why would I?  I can easily push Abby in her chair and hold Logan's hand while we walk to the car, right?  No.  When we got to the parking lot, Logan refused to walk on the ice (which was pretty smart-he has seen all of us fall on the ice at one point this week).  He would not take one step.  He stood still, saying "mom, hold me".  Great.  So, I hold Logan and the gifts and push Abby to the car.  I start the car first to warm it up, then put the kids in.  I use the keychain (already in the ignition) to pop the trunk so that I can load up all out stuff and then promptly shut the door (wouldn't want to let any of the snow in).  Apparently, when I pushed the trunk button, I also pushed the lock button.  You see where this is going.  After loading up the trunk, I try to open my door only to realize that I locked myself out of the car, with the kids in it and the engine running.  Great.

Well, we have AAA, so I wasn't going to get too upset.  They would be there shortly after I called....except that my purse with my phone was in the car.  Great.  So, I borrowed someone's phone to call Wes.  He called Triple A and Pop-a-Lock.  I knew I had seen commercials that said if there were kids in the car they would be there immediately......I thought.  Their advice was to call the police because it would be over and hour before they could respond.  So he did.  The husband of the director of the center waited with me in the snow.  This was all very embarrassing.  While Logan was not happy, Abby was laughing so hard we could hear her on the outside of the car.  Real funny, Abby.  So, the police call his cell phone to verify where we are, only they inform me that they don't unlock cars anymore.  They will have to notify the fire department.  So, yeah, a fire truck pulls up in the parking lot....but there was a problem with that, too.  The fire trucks do not unlock doors anymore either.  They could only bust out the window.  Great.  So we just stood there and looked at the kids and the car and the door.  They were curious about why Abby couldn't just unlock the door herself.  I told them a little bit about her and Rett.  We must have seemed pitiful, because despite that fact that they "can't " unlock doors, they used a piece of metal wedged in the door hinge to pop it open.  Yay!  Crisis averted....finally.  

After it happened, my thought was that I had to tell Wes not to tell anyone about it.  I was so humiliated. Ugh.  But, after a couple hours, it became more funny than embarrassing.  Now, its just funny.

Friday, December 17, 2010

Wizards and Unicorns

For the next couple of weeks, Abby gets to test out the Dynavox Eyemax.  It's one of the three eye gaze communicators that are options for her to get sometime in the hopefully near future.  I picked it up yesterday, but was unable to get it calibrated until today.  I don't know if it is her glasses, or what, but it's not easy to get calibrated for her.  After much trying, we finally got it up and working this afternoon.  I am not familiar with this device and I honestly don't know much about setting up the pages for Abby to use.  If you don't set up your own pages, Abby can only use the preset pages, which are not very exciting or meaningful to her.  If we went with this device, I would make lots of pages that she would like better than the presets.  She did find one page that she liked.  I would not have guessed that she would find wizards and unicorns so entertaining, but what do I know?  I hope she remembers where she found this game because I have no idea.   

The screen is blown out at first, but gets better after a few seconds.  

For those of you not familiar with eye gaze technology, here is my understanding of how it works.  There is a bar/sensor at the bottom of the monitor that emits a ray that is reflected off Abby's retina.....I think.  We set up how long Abby looks at something before it is selected.  When her eye gaze "dwells" on something for the determined amount of time, it is selected.  

I am not sure what I think about the Dynavox yet.  I do know that I don't really like how it is set up-very labor intensive for the person setting up pages, which would be me.  I would still be giving her choices that I think she might want to say in a given situation.  I am hoping to find something that would give her even more freedom, but ultimately it will be up to her.  One of the other devices is set up without so many limitations, so maybe that will work better.  Time will tell which device will be the best fit.

Monday, December 13, 2010

After reading a post from an amazing mom who also has a little girl with Rett (Thanks Bridget), I find myself very inspired to step it up with Abby also.  It is hard to stay motivated to make Abby work and work and work when evidence of progress is hard to find.  This is especially true for me when it comes to physical therapy.  For the past 3 years, Abby has had PT on at least a weekly basis.  Some of the time has been in the clinic and some of the time has been on a horse.  I have been so happy with all her physical therapists.  They have given me lots of strategies to help her maintain and improve her walking, balance, flexibility, and strength.  Even with amazing therapists, follow-through at home, and lot of hard work from Abby, she was still better off before we started.  It feels at times like we are fighting a losing battle.

Here's the thing, though.  It's not hopeless for a couple of different reasons.  Regression doesn't last forever and regaining lost skills is possible.  And if it is possible then how can we not keep trying, right?  Sometimes it seems futile to help her walk up every step of our stairs every time when go up every day.  It would be much easier to carry her.  But, if facilitating her so that she weight shifts, so that she trains her muscles to make the movements without having to "plan" them out, that would be something worth while.  Even if she doesn't walk up the stairs independently.  If she doesn't loose the ability to put each leg up to the next step, that would be something.  Trying the same thing over and over again can only help. And she deserves it.  Also, I am confident that there will be a treatment or a cure that will radically change Abby's life.  I want her body to be ready, to be strong.

The problem I have had recently is that I lose track of all the exercises that we should do every day.  I have an ongoing list in my head of things that are helpful.  When she sits on the potty, I stretch her heelcords.  When she watches TV, she get E-stim for 30 minutes.  She gets on the treadmill a few times a day for a few minutes, walks up the stairs when there's time, bears weight on her hands when she will tolerate being on all 4's, practicing sitting to standing whenever possible and on and on.  The list has been accumulating over the past 3 years.

I think its overwhelming because this list is only in my head, completely unorganized.  I used to have a list for each of Abby's therapies in the past, mostly to let each therapist know what she is working on in her other therapies.  It's time to make them again.  If I had a list of things to do with Abby everyday, maybe I could fit it all in.  So often, I go to bed feeling guilty because I forgot or didn't have the time to do everything.  My goal this week is to talk to Abby's PT about this.  Hopefully, she can help me come up with a realistic schedule of all the things we need to do.

That's the plan.

Tuesday, December 7, 2010

I have such a heavy heart today for the loss of another child to Rett Syndrome.  Aidan O'Rourke lost his battle with Rett Syndrome this morning.  He was the sweetest little 3-year-old you would ever meet with a smile that could melt your heart.  Abby and I were honored enough to meet Aidan and his mom a few months ago.  He was such a special little boy who will be missed by everyone who knew him.  While I am happy for him knowing he will finally be free and will no longer have to fight this battle, I can't imagine the loss that is being felt by his family.   Please keep them in your prayers.

Saturday, December 4, 2010


Abby and Logan are blessed with lots of cousins.  They are awesome...all of them.  Tonight, Ryan and Kiley spent the night.  Abby and Logan had a blast.  

Ryan & Kiley play ball with Logan for as long as he wants.  Seriously, they never tire of catching and throwing.  Its great!  They played Pretty Pretty Princess because Logan asked to.  Yeah, Logan asks to play Pretty Pretty Princess.  I guess that's what happens when you have a big sister.  Ryan helped Logan with the pretty part and used the switch to take his turn.  

Kiley doesn't hesitate to help Abby take her turn.  She's a natural.  Abby loves Kiley and always smiles when both she and Ryan are around.    

They both make a soft pillow for Logan when he gets too tired to play, but too wired to sleep. 
Like I said, we have great cousins.  

Thursday, December 2, 2010

Christmas Shopping

I have thought a lot about what to get for Abby for Christmas this year.  It is very difficult to find toys that she can activate herself and that are age appropriate.  Abby can pat on things with her hands.  She loves activating things herself-its one of the few things that she can do without assistance, so I really try to find things that she can work by herself.  Unfortunately, most toys that have large enough buttons are designed for infants, while the princess computers and and age appropriate toys that she LOVES looking at in the store require way too much fine motor control.      

Tonight, Wes and I went out to do what we thought would be the majority of our Christmas shopping for Abby and Logan.  Fortunately, Logan is easy to shop for.  He is almost two and is interested in lots of things, especially balls.  It was so fun to find toys that we know he will love.  We left with nearly all of his gifts in the cart.  I know he will be so excited on Christmas morning.  I so wish we could do that for Abby.  I think I have some ideas that she might like.  We will have to buy them, try them out to see if she will be able to use it, then return what doesn't work.  Here's what I am thinking so far:
If the keys are easy to push, I think she will like this vanity/piano.  It plays music and a princess image appears in the mirror. What girl wouldn't like a princess vanity, right?  
This one is going to need some work.  When a small button is pushed, the rose spins, lights up, and music plays.  I know she will like it, but the button is way too small.  I think I can super glue a large knob (maybe an inch or so wide) over the button.  I still might need to tape it to the table so she doesn't knock it over, but it just might work....maybe.  There were a couple of different themed toys that work the same way, so if I can make it work, I could get her a couple different ones.  The music/light combo is a favorite of Abby.    

If the piano doesn't work, I am thinking about a projector.  I could hook it up to her portable dvd player and it could play her movies on the ceiling while she lays in bed.  I think she and Logan would get a kick out of it.  They  make them for kids that aren't top quality, but that will work okay and aren't too pricey.  

Abby does have toys that she needs assistance to play with.  We play with her Little People, books, and dolls together.  While I will continue to help her play with these toys, I think she will enjoy having a few new things to play with all by herself.