Hello, my name is Stephanie and my daughter has Rett.
First,
this site is NOT for parents with a newly diagnosed Rett baby. If you are a parent with a young child diagnosed with Rett, you need to go visit the well known and established sites, which I link to below.
Secondly, I will tell you is that this blog is NOT affiliated or associated with any Rett Syndrome organization in any way, and does not reflect the opinions of or represent anyone other than myself.
That being said....
Here are some links to well-known Rett Syndrome sites. Firstly,
IRSA, because they do such an outstanding job of raising awareness. And, secondly,
RSRF, because, from everything I've seen, they are leading the field in funding RS research. These sites are for organizations I am familiar with, but are not necessarily the "only" sites out there.
Now, to explain what this site is. This is a personal opinion page, a vent page, a "harsh realities" page, and will be full of my own experiences and perspective on what Rett Syndrome is, what it does, and what the Rett Journey really means to our girls - or at least to mine.
To officially define Rett Syndrome, I offer IRSA's definition from their site:
"Rett Syndrome (RS) is a unique neurodevelopmental disorder which begins to show its affects in infancy or early childhood. It is seen almost exclusively in females, although it can occur rarely in boys. It is found in all racial and ethnic groups throughout the world. "That's a pretty broad definition. More specifically (and in my own experience), Rett is neurological disruption that doesn't show up until your daughter (there are only a handful of living RS boys) is between 6 months and a year old, or sometimes not until they are older - maybe even in Kindergarten. This disruption of normal neurological function and growth takes away the skills your daughter has already acquired (talking, using her hands, toiletting, etc.) and regresses her ability to function so severely that she cannot even comprehend the world anymore. The nerves aren't functioning right anymore and ordinary input is either too overwhelming, or not recognized at all - sometimes switching between both states. It's all too confusing for her. Additionally, she has suddenly been cut off from everthing she did know and is now trapped in a world she doesn't understand. To add to that, she still sees her Mommy and Daddy (or whoever), but now, for reasons she has no way to understand, she can't even get them to understand what it is she needs. She is scared. She is angry. She is frustrated. She is depressed. She is lonely. She is grieving.
Imagine suddenly not being able communicate anything anymore. You know you are speaking, using words you've used before, and to you it sounds like you are saying the right words, but no one around you can understand you anymore. You're a 1 year old little girl, and just a few weeks ago you're mommy understood you just fine when you said "pup" or "ungee." You try saying it again and realize that it just didn't come out. You cry and you get picked up and your mommy tries to figure out what it is you need, but you can't seem to understand what she's saying anymore. You're frightened because being picked up and rocked makes you dizzy now. Sitting in your swing in Grandma's backyard scares you because you feel like you're going to fall, but you know you liked this just a few weeks ago. You remember. You squealed with glee the first time you were in it - laughing and clapping the whole time. You remember clapping and try to do it again, only to have your hands grip each other and not let go. Now, you can't control your hands anymore. What's happening?!? Your hands are tingling and itching - they feel funny. Why can't anyone help?
This would drive many sane adults to insanity. How could a child possibly cope? They don't. The chaos causes confusion and fear and their young, inexperienced, minds can't handle it.
Next time, I'll write about what's called the "rapid destructive phase" and my take on what may really be going on there.
