Hey, so...there's a lot of stuff out there on the interett (see what I did there?) You can get some beautifully worded details on this page from one of our fave Rett charities.
I'm gonna lay out some other stuff for you. Worded in a suuuuuper not official or sciencey way. If you're a clinician, you'll recoil.
If you're a lay person, this is for you.
I've found in my decade-long career as a Rett parent that there's a lot of misinformation and misunderstanding about the condition and what it's like to live with Rett.
I think some of this comes from the original documentation about the condition from the 60s. As I write this, we've been in the ICU for a week with pneumonia. And the main doctor told me yesterday, "I don't really know a lot about Rett. Just that the main symptom is intellectual disability."
Lady, you DEAD. WRONG.
This myth comes from the original description of the condition which, thanks to the everlasting effects of the internet, has been a very hard lie to shake. It doesn't help that we measure ability and intrinsic value based on completely arbitrary things. Like the ability to speak. Which of the Seven Dwarves was called Dopey? The one who couldn't speak. I rest my case.
We simply do not yet have the smarts or technology to measure the intelligence of these kids. To say they're intellectually disabled is really effing rude. Just ask Jo Picard, a teenager who happens to have Rett syndrome and uses her eye gaze computer to write the most brutal (and articulate) takedowns of ableism you have ever seen.
The number one most impairing thing about Rett isn't intellectual impairment (what they used to call "mental retardation").
Can you believe that? Apraxia! Do you know what that is? It's one of the -xias (cousin of dyslexia, sister of dyspraxia). Imagine you're driving (hey, stop texting!) and you turn the wheel left but your car veers right. You switch on the wipers and the volume turns up.
You hit the gas and NOTHING. HAPPENS. This is Rett syndrome. It's an inability to order your own body's movements. Stuff happens (cuz you're not exactly paralyzed) but it's not the stuff you're trying to make happen. Like hand wringing or tremors or weird breathing patterns.
And this is an example of why Grace can't eat anymore. Slowly, it became harder and harder to order all the movements required to eat. You have to engage your tongue, throat, jaw and breathing and as her processing ability diminished, so did her ability to do all those things at once.
You know from the other websites (or wikipedia) that Rett syndrome is (usually) caused by the mutation of a gene called MECP2 (said like "meck pee too"). That gene expresses a protein also called MeCP2 (note the little "e" learn about that here).
Well, that protein is like a conductor carrying messages through the nervous system. And when there's a mutation on the gene, its ability to express the protein is reduced so the messages don't get passed around.
The level of MeCP2 protein expressed by the gene is determined by where on the gene the mutation happens to be. There are different types of mutations with varying severity of disability and different commonly associated issues.
So it's like that car scenario from before. You floor the accelerator and your car just sits there. Or you hit the brakes and it keeps going. Or another scenario...that scene in 40 year old Virgin with drunk Leslie Mann trying to drive. The car is Grace. The driver is Rett. And me? I'm Steve Carell. Oh, and the other cars on the road are everyone we know (sorry about that).
It's endless, really. That's why I've been blogging all these years. Dive in and dig around to learn more about what it's really like to raise a kid with Rett syndrome. I also have posts taking more sciencey things and breaking them down in plain English. Many were written as supervised by a panel of top doctors and researchers so you know they're accurate!