Thursday, November 21, 2013

Rett Syndrome 101

Rett Syndrome 101

First, I want to say thank you to everyone that has decided to join our journey and follow our blog to see where this path takes us.  Your kind words and support mean more than I can write. Today I thought I'd share an article that really explains what Rett Syndrome is and help you understand what Charlotte has and how the syndrome has affected her.  Again, this is all from my perspective and observations.  In most cases, the syndrome does not present itself until 18-36 months old in most girls.  These girls typically develop normally and then begin to lose skills.  This does't appear to be the case with Charlotte.  I noticed delays in her as early as five months old and had her in a variety of therapies by the time she was nine months old.  Did this help her from regressing, I don't know.  This is what I do know, she is able to walk though with an unsteady gait but she is not in a wheelchair.  She cannot talk but we have always felt that she could understand us.  It must be so frustrating for her to want to communicate and not get her body to cooperate with her.  She is able to laugh and giggle and yell at us when she's mad.  I think this inability to communicate has made many of us think that she is far more cognitively delayed than she is.  She has use of her hands - not great coordination but is able to point and finger feed.  She likes to play the piano :)  She has no breathing issues.  She does have absence seizures where she stares off or zones out for a few seconds.  We seemed to have these  under control with medication.  She tries to be a great sleeper but often wakes during the night - I don't know if she's had a bad dream, is ready to start the day or just wants company.  Sometimes she goes right back to sleep and other nights it could take a couple hours.  She loves being with people and is always ready to give kisses and a smile.  She loves music too and to be sung to.  I have a terrible voice but no longer hesitate to belt out "You are My Sunshine" in a public place if that is what is going to make her happy!  Her favorite show is Mickey Mouse Clubhouse but we are hoping to encourage to advance her interests.  Her favorite movie is Monsters, Inc and we have watched it at least once a day since she was 2 years old.  I feel like I should be a shareholder in Pixar!  She is able to use the bathroom and signals to us that she needs to go by scratching the back of her neck - she came up with that on her own and it is very discreet - that is if you are paying attention otherwise she will yell at us.  She does still wear diapers for those times we can't get her there fast enough or someone doesn't understand.

So here's a link to what Rett Syndrome is and hopefully this will give you an idea of where we are.  As we are flying to NYC to see a Rett neurologist as I type this, I hope I will have more information about Charlotte in the next day or so.

I'm so happy to be taking this journey with Charlotte.  She continues to keep me on my toes and encourages me to continue learning and growing as a person.  Some say she is lucky to have us in her life but it's quite the opposite, we're lucky to have in our lives.  You'll never truly know what unconditional love is until you've spent time with Charlotte!

Until next time and a New York update,
Lots of love,
Andrea and Charlotte

1 comment:

  1. I love reading these updates and learning about Charlotte! You are all lucky to have each other!