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.

Monday, August 30, 2010

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.   

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!   

Friday, August 27, 2010

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!  

Wednesday, August 25, 2010

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.

Sunday, August 22, 2010

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!!!


Saturday, August 21, 2010

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.    

Thursday, August 19, 2010

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.    

Monday, August 9, 2010

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.  

Monday, August 2, 2010

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!!!"