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, September 27, 2010

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.       


Monday, September 20, 2010

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.  

Monday, September 13, 2010

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.    

Wednesday, September 8, 2010

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.  

Tuesday, September 7, 2010

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!!!

Monday, September 6, 2010

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.  

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