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!!!

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.

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.

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.

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.

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.

    

Cousins

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.  

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.          

  

  

Fashion week here we come!

Today, Abby took part in a fashion show for kids who are clients at the center where she gets her therapy.  About 80 kids with special needs participated, and the event raised money for the center, who doesn't turn anyone away because of inability to pay. It was inspiring to see all the kids making their way across the stage.  Some were wheeled, some walked, some use gait trainers, some ran, and a few even danced.  It was their much-deserved day in the spotlight, showing off their new duds.      

Abby got to pick out an outfit a few weeks ago (super cute red dress with silver tights and sweater).  She even wore a pair of magnetic earrings, which fell off before she hit the stage.  She wasn't thrilled about all the primping that took place this morning, but she was pleased with the final product.

She was anxious as she waited to go on the stage.  There were hundreds of people watching, and the noise and crowd were a bit overwhelming, but she did awesome.  She walked out with two volunteers, Lucas, and Julie. They were so sweet and Abby couldn't get enough of their attention.  Abby made an impression on the local high school basketball team that escorted the kids onstage.  It was a great opportunity to share about Rett Syndrome.  I'm sure it was a learning experience for high schoolers.  Abby's escort asked if I would take a picture of he and Abby to put on his phone.  Sweet.

She had quite a fan club that came to see her strut her stuff.  We have an amazingly supportive family.  All the grandparents and lots of aunts, uncles, and cousins were cheering her on.

A very early Christmas gift

I couldn't resist letting Abby have one of her gifts early this year.  Her Mamaw and Papaw got her this great chair.  I asked them to look for a recliner, or a chair that she wouldn't slide out of, and they found this awesome pink recliner that is just her size.  It's so soft and comfy. I wish we thought of it sooner.  She always looks so uncomfortable sitting on the couch (or sitting anywhere, really).  We reposition, and reposition, and reposition.  But she sits great in this chair without any sliding.  Love it!

Logan is still loving the chair his Nonnie and Papa Dave gave him last year for his birthday.  Clearly, they have the best seats in the house.  They're ready for a movie night!

     

Thankful for uneventful days

Today was an uneventful day, and I'm thankful for that.  Abby didn't do anything that made me call the doctor, search the internet, or read through our Rett Handbook.  I didn't feel the need to stare at the monitor while she slept or keep an eye on her lips to see if they were a tint of blue.  She roamed around the basement without assistance for the first time in a long time, which is so great.  She swallowed well most of the day and was in a pretty good mood.  

Last week it was a seizure one day, blue lips a couple of times for a few days, eyes rolling in the back of her head one day. There were the usual melting spells and periods when she wouldn't swallow.  She walked okay one minute, but wouldn't even stand up the next.  It was not the best week.  She stayed home from school so that I could monitor what was up with her breathing.  I am thinking she was having small seizures triggered by breath holding.  

I'm still not used to it.  I call the doctor and try to get some answers.  Why are her lips blue when she's not seizing and seems to be breathing somewhat normally?  Is her breath holding causing seizures?  Why would her eyes roll back?  Why would she have a seizure out of the blue when she hasn't had one in 8 months?  What should we do?  

Abby's pediatrician is consulting with her neurologist and a pulmonologist, but I already know what the conclusion will be.  She has Rett Syndrome.

One day I might get used to it, but I'm not there yet.  I know all of the above are common in RS.  I know there is very little, if anything, that can be done about it.  It just doesn't seem like that should be the case, I guess.



  

    

In the next few weeks, Abby will have a lot of new things to start working on.  She is set to restart hippotherapy (horse therapy) soon.  She did very well with hippotherapy in the past, but they stopped taking our insurance. Now that she is on the waiver, she can restart.  With all the trouble she has been having with her unsteadiness, hippotherapy is a great thing!  

Also, her PT is ordering her a gait trainer and a Convaid Stroller/wheelchair, or something similar.  Now that she's too big for a child stroller, it is necessary to have something comfortable for her to sit in for those times when she isn't able to walk the distance.  Since she is unable to step up on the bus, she will use the wheelchair to get on and off the bus.  I have put off getting one long enough.  Her little feet are hitting the wheels in her stroller, so I guess it's time.

Even when she is anxious and unsteady, she will be able to walk in the gait trainer, as it will prevent her from falling.  I am hoping that it will give her more confidence, making her less anxious about falling.  I should point out that the goal is still to keep her walking independently.  Today she did great, and was able to walk around for quite a while without help at all.  At other times, though, she just needs assistance to keep her safe.  I am thinking of it as a temporary fix to her unsteadiness.  I am confident that she will be able to walk independently again soon.  That's not entirely true, but trying to remain confident that she will.

The thing that I am most excited about is Abby starting private speech therapy again.  Our insurance has denied her speech, so she has only had it at school since January.  Now that she is on the waiver, she will get it on a weekly basis.  This means we can start the process of getting her a communication device.  I can't wait!!!  I read about them all the time.  I know Abby will thrive when she is able to have a voice.  As soon as we start speech, I want to start the process of getting a trial of at least these two devices to see which would be a better fit:
Eco2
Tobii  Ceye
I can't wait!! Though she isn't in speech yet, I have been in touch with a therapist who knows Abby, and we are completely on the same page.  I know it's a long painstaking process to get funded, but I can't wait!!

Logan

Most of this blog is dedicated to Abby and her journey with Rett Syndrome, but this post is about another amazing little kiddo.  Often, Logan plays the role of Abby's little brother, especially when he accompany's me at her school, therapy, or other appointments.  I'm sure he's had more therapy than any of his friends.  He knows all about communication switches and loves using them to tell stories.  He is one of the boys who is always jumping and running into things, yet he has never knocked Abby down, which is nothing short of a miracle.  They share smiles in their carseats-Logan especially likes Abby's sneezes and squeals.  Sure, he gets frustrated when she pats his head with her cast (ouch!) and is mad when he has to wait for her to finish on the potty before we are able go outside, but he is very gentle and sweet to her.  He runs to her bedroom to grab a pull-up and a wipe as soon as I take her to the bathroom.  They both like for him to feed her snacks, and he is happy to share his juice box with her.    He's a sweet little guy....feisty as any little guy I've ever seen, but sweet nevertheless.  

He is crazy about sports, or balls, or both.  It's an obsession, really.  Instead of playing at the playground, he wants to watch the people playing tennis.  I made a special trip to an amazing park that I though he would love, but he only wanted to stand and watch the UofL field hockey team practice across the field.  He can't get enough of Sports Center, and was loving laying on the couch watching the World Series.  I thought this was surely just a phase, but, when he starting grabbing the sports page, I began questioning that assumption. 

Fortunately, Logan is going to spend some one-on-one time with his grandpa tomorrow while Abby goes to therapy and the dentist. He is sure to have a blast hitting baseballs and shooting baskets.  

   

    

We have already been trick-or-treating twice, and we will go again before Halloween. There are so many Halloween parties.  Abby is loving it.  She likes the lights, music, and all the costumes.  She liked it much more than the pumpkin patch.  We've had a busy few weeks-here's a few photos.  

Abby and Logan loved trick-or-treating at the zoo.  Abby wore a witch hat with her cute tutu and Logan wore his spiderman pajamas costume.  

Yes, that is a hug!  Abby LOVED the princesses at the zoo, so we got her an Aurora costume for Halloween.  

Abby and I had a play date with Aidan, his brother Kade, and Karlie and her sister Emily last week.  Aidan and Karlie have Rett Syndrome also. Aidan's mom, Kerrie, was nice enough to have us all out to her house.  Her boys are just precious!  I am so happy that Kim and her girls made it, too.  Karlie is absolutely adorable!  It is always great meeting with other Rett families.  We decided that a girls night out is in order very soon.     

Abby's class had their Halloween party today.  She got to wear her costume, which she loved.  Unfortunately, she had a seizure at school this morning.  It was the first one she has had in nearly 8 months. Ugh.  She seemed fine after the seizure, just a little weak.  She still was able to stay for the party and even go to therapy.  Hopefully, it was just a breakthough seizure, and she won't have any more....hopefully.  In the rush to get to her school after hearing she had a seizure, I left my camera at home. She looked pretty sweet in her princess costume-you'll just have to take my word for it. 

Fall Photos

It seems necessary this time of year to take the kids to a farm and pick pumpkins.  It seems like they should love the hayride, the pony rides, the petting zoo, and all the fall festivities.  Somehow, it has yet to turn out that way.  Logan was less than impressed with anything the farm had to offer.  In a patch full of pumpkins, he found a.... bouncy ball.  Abby was a little irritated that she could barely take a step without tripping on a pumpkin vine and didn't love the sun in her face all afternoon.  They weren't upset or fussy, but they definitely would have had more fun at home or the park.  With that being said, one would think we will buy our pumpkins at the supermarket next year, but I doubt that will be the case.  Maybe next year they will have fun, maybe.      

Even though the kids didn't love the farm, we did get a few photos.  The smiles didn't come easy.  I looked ridiculous dancing around and singing behind the camera, but I'll do what it takes to get a cute photo.  After all, we had them looking all cute in their fall sweaters, drove across town, and carried them all over a farm-I was going to have something to show for it.     

    

Rett Syndrome Awareness Month

In honor of Rett Syndrome Awareness Month, I put together a montage of Abby. Well, I guess it just gave me an excuse. I have seen a few other ones lately and it gave me the itch to make one for Abby.   Anyway, here it is. Warning-It might be a little sad, or maybe its just me...but I can't watch it without crying. I didn't intend for it to be sad, but photos of little Abby are tough to look at, even though big Abby laughs when she watches it.  I think it will be useful to have a short DVD that gives information about Abby's journey with RTT.  I can give it to businesses/groups when it comes time for fundraising or getting grants etc.

Photo and video editing at www.OneTrueMedia.com

Ouch!

Miss Abby has fractured her arm again.  Sigh.  It's a small break, actually 3 small breaks, but a break nevertheless.  Again, we didn't figure out what had happened until the day after it happened.  Determining that cause of pain in a child that doesn't talk, can't point to a spot that hurts, and has a high pain tolerance is VERY difficult.  Wes and I laid her on the bed and started poking all over her body to see what made her cry.  Even with a broken arm, she didn't flinch when I manipulated her arm.  

She was upset a couple of times last night, so I thought she was just tired or was having acid reflux.  She would get upset for a while, and then calm down and sleep for a while.  This morning, however, she was even more upset and we noticed that she wasn't stemming with her right hand-a dead giveaway.  She always pats her chest with both hands.  We immediately took her to the children's hospital for an x-ray.  We went to a new one in the area, which was amazing.  They have made the hospital like a funhouse for kids.  We actually had a woman who came in to entertain Logan while Abby was getting her splint.  She brought toys and slushies.  It was fun for all, even Abby, who did not mind laying in bed watching cartoons and snacking all morning.  

Apparently, when she lost her balance yesterday and fell back, her arm was fractured, even though we caught her before she hit the ground.  Maybe her arm hit before we caught her?  Maybe it was fractured earlier in the day when Wes reached for her arm when she was losing her balance?  I don't know because neither incident was really all that noteworthy.  She was upset, but not inconsolable.  She has been getting very anxious about falling, so we thought she was just scared, not hurt.  She loses her balance a lot, but we always catch her.  I guess we are going to have to be more careful about how we catch her.  Honestly, I was waiting for child protective services to come in and question how it is that this is the second break in a year and we don't know how it happened.  But they didn't come and the doctors were very good, even though we had to correct a couple of them that Abby's diagnosis is Rett Syndrome, not Tourette Syndrome.

Abby is doing fine, though.  Now that her arm is in a sling, she isn't upset at all and  was told that she was the best patient that they had ever had at the hospital.  The hospital has only been open a few weeks, but I didn't tell her that.  She was beaming.  That's my girl!   

WE WON!!!

thank you!!

Thanks to the determination from Rett families and the support of all our friends and families, we won 500k for IRSF.  Pepsi awarded 250k, which will be matched by the Pioneer Fund, making a total donation of 500k.  That's a HUGE amount of money!!!  Thank you so much to everyone who voted.  The Pepsi contest could not have been awarded at a better time, as October is Rett Syndrome Awareness Month.  

thank you!!

We do not take for granted Abby's ambulation.  She walks, and that is a miracle.  For the past 6 months, however, for one reason or another, it has been difficult for her to walk unassisted.  I have tried endlessly to figure out why, but it is some sort of Rett thing.  We hope its not further regression, but rather due to anxiety.

It is important to keep her up and moving as much as possible.  I hold her hand a lot during the day, but there are times when I can't, and she ends up sitting and watching me do housework, clean, or play ball with Logan.  She looks at me like she is bored out of her mind, which makes me feel more than just a little bit guilty.  I know she would rather me walk her around the house.  Her PT and I have been trying to find a way for her to move around the house independently and safely.  One idea is to get her to walk in a gait trainer.  She hasn't been able to walk well in it yet, but it may take some time for her to get used to it.  We're borrowing a few different models to see if one will work for her.  We have cleared out a few rooms in the house, giving her some open space to test it out.  We'll see how it goes.  

This may sound crazy, but my backup plan is to let her walk around with a life jacket on.  It sounds ridiculous, so let me explain.  When Abby falls, she always fall backwards, hitting the back of her head on the ground. Ouch.  I have thought about putting a helmet on her, but it would still be a hard fall, and I think she would still get hurt.  She wore a life vest on the boat this past weekend.  It is very thick and soft. I think it would protect the back of her head, right?  This one is too small, so I'm going to order a larger size that will be more comfortable.  There is not doubt that she will give me the "what are you doing to me now" look, but it just might work.       

 

TriState Strollathon

We had a great time at the TriState Strollathon on Saturday.  The weather was perfect and there was a good turnout.  I am so happy to report that, after all the offline donations were added up, Team Abby raised $7,000!! That is SO much more than our original goal.  Thanks again to all those who made donations, especially to those who walked with us on Saturday.  Our team rocks!!!

Abby had a chance to test out one of the trikes that were available for demonstration.  She loved it, of course.  We have a trike that we got a couple of years ago, but she has never been able to push the pedals enough to make it move.  I think it weighs too much.  This one, however, is designed so that even just a minimal push on the pedal will move the bike.  She was SO happy on it.  

Video of Abby riding 

What if..

One of the most dangerous places for me to go is the world of the what ifs.  It is better not to focus on what could be, but to rather focus on how to make the best of the way things are now.  It has gotten easier to block out the what ifs.  Iv'e had a couple of years of practice.  Sometimes, a whole day goes by without even a single thought about what it would be like if Abby was not born with Rett Syndrome.  Other days, it's not so easy.  When the thought comes to my mind, I try to force them back, and continue with the business of the day.  In some ways, the busy days are the easiest days to not think about thinks that need to not be thought about.

It is when I am alone, which is not often, that the thoughts are most present.  When I'm with Abby, I don't have time to wonder what everyone else's lives must be like-I am taking care of her.  But, when I am free to watch others interact with their kids, it different.  Standing in line at the grocery, I notice how well a girl Abby's age can articulate what she is thinking, while she tells her mom every detail about her day at school.    I wonder what Abby would tell me about her day.  And there I am.....the what ifs.  It feels like a punch in the gut.  Like when a little girl grabbed Abby's hand at the playground and asks me if she can play chase.  wow.  What if....

So, you see, I try not to think about such things, and instead focus on the here and now.  And there is a lot in the here and now that needs focusing, so that's a good thing.  This week has been a little all over the place, though.  One moment I am compiling a video of photos from Abby over the past 4 years and I'm dwelling on what it was like before her diagnosis.  Lot of what ifs there. The next minute I am freaking out about a post that I read about girls with Rett whose pass away suddenly.  What if Abby is one of the girls who loses her life to Rett?  It isn't often that I go there, but it happens.  All over the place, right?  We also have our strollathon this weekend, so I'm excited about how much our team has raised towards a cure.  A cure.  What if..

It is probably a good thing that I have been reminded so much this week of the cost of Rett Syndrome on Abby and the other girls (and boys) like her.  It makes me more determined to do whatever it takes to find a cure.  Trying to not think about Rett Syndrome is sometimes a matter of survival, but allowing myself to see it for the ugly thing that it is makes me want to fight harder to stop it.    

Gotta love a tutu!

Thank you Maren for the absolutely adorable tutu! As you can see, she is quite pleased with it.  I love how it looks and she loves how it feels-perfect.  

So much good news!!

I am so happy right now.  First, Abby got off the bus with the same dry diaper that she got on the bus with over 4 hours ago.  Wow! Without words, she can communicate to her teachers that she needs to go potty.  She's pretty amazing.  Then, after eating lunch and going on the potty again, she went to sleep-and so did Logan AT THE SAME TIME.  So, I'm sitting here in quiet reading a book, which is awesome, when the phone rings.  The voice on the other end wants to discuss Abby's approval for the Medicaid Waiver!!! This means she can restart speech therapy right now and start the paperwork to get her a communication device.  She can start hippotherapy again and we won't be left with so many copays and deductibles.  Also, it will also give us respite and will lift a huge financial burden of medical and prescription expenses!  We have insurance, but they aren't paying for all the services that Abby needs, so this is such great news.  It's a lot to think about, but I AM SO HAPPY RIGHT NOW!!!

Not so light reading

Definitely not a light read, but there have been a few articles/interviews recently of particular interest to the Rett community. 

RSRT Blog 9/5

This post relates to the function of the gene that is mutated in Rett Syndrome.  

Research of IPS Cells and X-linked disorders

I can not possibly sum up any part of this article, as I am no scientist, but it's a good thing.

First Day of School

Today was Abby's first day of school.  She has been super excited!  It is a little overwhelming getting everything ready for the first day, so I thought I would share a few things that have helped Abby transition.  First, we pack a step-by-step communicator with a prerecorded message about some things Abby did over the summer.  It gives her a way to share with her teachers.  We also print out some pictures to go along with the message.  I don't usually send pictures to go with it-I don't have that much time, but I did have some cute photos from the summer.  She brings the communicator home everyday with a message about her school day.  She really likes using it to tell us about her day.  Also, I am sending this letter to school for all the new staff that will be working with Abby.  She will have the same teachers, but the bus drivers, monitors, and SLP will be new.  I am going to send this with Abby the first day as a way to introduce her....sort of.  It's difficult to sum up Abby and Rett Syndrome in a nutshell, but I attempted.   

Hello!

Abby has been looking forward to starting school, and is excited to meet all the new people that will be working with her this year.  Abby’s disability is very unique, so I thought I would take a minute to familiarize you with her disability, and share a little about her with you. 

Abby was diagnosed with Rett Syndrome when she turned two years old. Rett Syndrome is characterized by apraxia, or difficulty with motor planning, resulting in the loss of purposeful hand use, loss of expressive speech, and difficulty with ambulation. In addition to these characteristics, individuals with Rett syndrome usually have big expressive eyes, desire for socialization, and many show a love for music. Problems regulating breathing, chewing, digestion, sleep, body temperature are due to difficulty regulating the autonomic nervous system.

Abby is a very happy little girl, who loves to experience many of the same things as her typical peers.  She especially loves having stories read to her, listening to music, and playing in water.  Her disability prevents her from participating independently in many activities, but with help, she can be included and can thrive.   

You will notice that, although Abby is able to walk, she is very unsteady and needs assistance even while taking just a few steps.  There are days when she walks better than others, but it is safest for her to be supported at all times.  We have found that the most frustrating thing for Abby is her inability to communicate.  It is even more difficult for those who do not spend a great deal of time with Abby, as her communication cues are subtle and take time to learn. When she gets frustrated or over-stimulated, music will usually soothe her.  We pack headphones and an iPod in her bag, in case she needs them on the bus or throughout the day.

Although she has many obstacles to overcome, Abby is very social and is able to learn and communicate in her own way.  I have included a few resources if you would like to learn more about Abby and her journey with Rett Syndrome.  If you have any questions or concerns, please don’t hesitate to give me a call!    

Thank you for helping Abby to make this school year a great one!   

Amazing Generosity

Okay, so I was a little worried that I had waited too long to get our fundraising started for the Tri-State Strollathon, which is on September 18th.  We posted the link to our fundraising page on this blog, Facebook, Wes's blog, and his twitter page.  I can't believe the response!  As you can see, we have already met our goal.  Its amazing.  That is only from online donations! Wow.  Most of the people making the donations have never met Abby and have never heard of Rett Syndrome.  We will have so many more offline donations by September 18th.  I am so excited to see how much our team can raise.  As I write this, I am getting another email letting me know we have another donation.  Thanks so much for supporting Abby!  

New Glasses

After Abby's opthamologist appointment, we picked out some new glasses.  Don't they make her look older? We got an extra pair to use as a spare.  Hopefully this will reduce the number of times we have to go back to replace nose pieces and reshape frames.  When she was younger, she would pull them off a lot.  She doesn't bother them too much now, but Logan keeps taking them and bending them.  

As long as she wears her glasses to correct farsightedness, her eyes are aligned.  Without the glasses, her eyes strain to see causing strabismus (lazy eye).  Her right eye is turning in more than the left, so we are going to have to patch her left eye for about an hour per day.  That will strengthen the right eye.  I'm sure she will tolerate it, though.  We have done patching on and off for a couple of years.

IRSF Tri-State Strollathon

Team Abby is getting ready for our annual strollathon in Cincinnati.  We have participated in the event for the past two years.  There will be over 35 families with girls/boys with Rett, so there is sure to be a crowd.  The location is great-the riverfront makes a beautiful 1.5 mile walk.  There will be music, food, and entertainment for the kids.  Let me know if you would like to join our team-we would love all the support we can get!!  There will be more information to come.  I plan on getting some help from my nieces and nephews to tie-dye shirts for the walk (and maybe make a few banners).

Even in you can't attend the stroll, you can still be a part of Team Abby by joining our efforts to raise money for Rett Syndrome.  Visit our team's website to join the team or make a donation.  Thanks so much for your support!!!

www.firstgiving.com/annmcdermott

A Great Weekend!

Of Friday, we went to Birmingham for Abby's appointment with Dr. Percy and Jane Lane.  It went very well.  Abby is now 31 pounds and 100 cm.  She is growing on the same curve that she has always been on.  It's on the low end, but is normal for her.  We talked about new developments for her in the past 6 months including seizures, difficulty swallowing, and falling spells.

They are pleased that she is having no side affects with the Keppra she is taking to control seizures. It would be preferred to get a seizure on an EEG to confirm that they are seizures before giving medicine to control them.  He did say that if they weren't seizures, they wouldn't stop only when taking Keppra, so I'm confident that giving her the Keppra is the right thing for her now.  We also discussed her issue with holding saliva in her mouth instead of swallowing it.  She continues to have times throughout the day  where she doesn't swallow.  They agree that it is apraxia, and suggested that I talk to her OT about oral stimulation techniques.  It seems that it might be connected to anxiety as well.  They witnessed Abby having a falling spell.  Dr. Percy thinks it might be dystonia, triggered by anxiety.  While she is falling, she often holds her breath or stops swallowing.  When the spell is over, she often swallows and begins breathing regularly.  Long story short- Although she doesn't appear to be overly anxious, the swallowing and falling issues might be triggered by anxiety.  We'll just monitor to make sure the swallowing doesn't interfere with nutrition/weight gain and to make sure the falling doesn't affect her mobility too much.  Some girls are on medication to help with anxiety, but they don't think it is needed for Abby at this point.  I feel much better after talking to Dr. Percy and Jane Lane.  The fact that they were not concerned about the issues Abby has had since our last visit calms my nerves a bit.          

Since UAB is a 6 hour drive, we stayed overnight and made the most of it. 

Abby and Logan swam and hung out watching cartoons.

Logan gives great luggage cart rides!

We spent the day today at the Birmingham Children's Museum.  It was a blast.  They especially loved all the water exhibits.   

On the way home, we stopped at Mammoth Cave.  Well, it rained while we were on the trail, so we all got soaking wet.  As you can see, there were no complaints.  Last year, we never would have tried to do so many new things with Abby.  She would have had so many meltdowns. We have had our fair share of issues this year, but I can't get over how much more relaxed and less frustrated she is.  We drove 12 hours is 2 days and she didn't get upset in the car once.  crazy.  Now Logan in the car- thats another story.    

A little bit of everything..

Last weekend I spend a few days in Las Vegas with 9 amazing moms of girls with Rett.  It was so nice to relax with other moms who are dealing with so many of the same issues as we are with Abby.  Rett is such a unique disability.  It's nice to know we're not the only ones going through this craziness.  While I hate Rett Syndrome,  I love that it has brought such wonderful and supportive people into my life.  Thanks ladies for a great weekend!

Abby has 2 more weeks before school starts.  She's all smiles when I talk about it, so I think she is excited.  I am glad she has the same teacher and aids.  She loves them so much, and will be so happy to see them.  I'm so ready to get into the school routine.  It will give me some time for Logan, and it will give Abby some interaction with people other than myself.  Her classroom will have some new touchscreen computers and communication devices that I'm anxious to see.      

Abby is sleeping tonight in foot orthotics.  I'm not sure how well she will sleep, as I can hear her wiggling around upstairs while I write this post, but we'll see.    She didn't get upset when I put them on, I just got the "what are you doing now" look.  She will let me try just about anything.  Her heel cords are tight, so this orthotic will stretch them slightly while she sleeps.  The hope is that this will correct the heel cords, and nothing else will need to be done.  Having tight heel cords can impede her ability to walk.  I don't think it is the culprit in the "melting spell" issue, but maybe.  We see Dr. Percy tomorrow as a part of the Rett Syndrome Study, so we will get some information about it then.    

Camera shy? not so much

That smile....I love it!

I had to post a video of Abby walking around today.  She was so happy to have a little freedom.  I am usually holding her hand or the back of her shirt.  She was steady today, so she got to walk around without help.  She still likes to stay close, though.  I think she knows that she might fall. I can tell when she is getting ready to have a spell by the look on her face and the way she starts to shuffle her feel.  When it starts, she tries to walk over to me  (or whoever is nearest).  Its so smart that she knows to get near someone who can catch her.  We need to get these falling spells under control, but in order to do that, we need to figure out why the heck she is having them.  We see Dr. Percy at the Rett Clinic next Friday, so hopefully he can give us some insight and suggestions.  

She is definitely my little diva.  When we are outside, she wants to be in the pool-in her chair-in the shade.  I don't blame her, though, it has been SO hot!

This is pretty much all Logan wants to do.  He is obsessed with balls now.  

SWISHHH!

At Best Buy tonight, Abby was a bit taken by the big screen TV's-this one in particular.  I have said it before, but I'll say it again.  Abby communicates a lot without words.  Staring and laughing for 5 minutes at a Toy Story preview means "stop talking about how you don't know how I will do in a movie theater and TAKE ME TO SEE TOY STORY!!!"