Rett Syndrome Episodes- Answers for Abby

I first posted a version of this when it happened. September of 2012. Abby was not quite 8 years old then. Things have chaged over the years but i felt it was important for this info to be available for or families dealing with this, whenever they may find us.

This past week we got a last minute call from the Children's hospital to get Abby in for a 48 hour EEG the next am. She was a trooper when they started.

Getting a little annoyed at this point. Poor baby 8 pullouts of her cap,bandages,and wires we had to quadruple wrap h

Rett Syndrome Episodes: Finally Some Answers for Abby After the hour-long, smelly removal of the wires... she was done. I’ve been thinking for days about how I’d write this post. I want to be thoughtful—especially to other families living with Rett Syndrome. While we experience many of the same things, Rett isn’t the same for everyone, and neither are the outcomes. So please know this is just our experience. No offense intended—only understanding. We finally got the answers we needed for our Abby, and I feel good about it. I wanted to share what we found out. Abby suffers from what are referred to as Parkinsonian Tremors and Rett Episodes—what we thought were seizures. Daily. When she wakes up in the morning, she goes rigid and shakes. Her body trembles like she’s being electrocuted. She looks confused. Her eyes open, close, roll. It usually lasts several minutes. When she wakes up at school or on the bus, it’s similar—but worse. She looks terrified. Her eyes dart back and forth. The tremors come in bursts, often misread as cluster seizures. Sometimes she even bursts into maniacal laughter. When she’s startled awake at night—by a cough, a door slam, any noise—her little body completely locks up. Legs go straight. Arms cross and clamp tight to her chest. She hyperventilates, shakes, sometimes cries out. During her stay, Abby had three of these episodes while hooked up to the EEG and video. Each one was witnessed by at least two nurses, and the middle episode was witnessed in person by the neurologist. He came in mid-morning and said: “Good news. Abby’s not having seizures. She’s having tremors and what we call Rett-episodes.” As a Rett parent, I’ll be honest: I’ve always felt like "Rett-episode" was just a fancy way of saying, “We have no clue what this is.” I was ready to fire back. But before I could say a word, he leaned against the wall calmly and said, “Just hear me out.” We talked for a while. And this is the theory we—mostly he—came up with. Here’s how I understood it: Dr: “MECP2 is the gene that makes the protein that helps neurons fire correctly, right?” Me: “Yes.” Dr: “When our girls are asleep, it almost seems like they don’t have Rett Syndrome. No breath-holding, no hand-wringing, no repetitive movements—right?” Me: “Yeah... that’s true.” Dr: “Okay, so picture this: When the brain wakes up, it’s like a spark plug firing. Or like kickstarting a motorcycle. Everything turns on all at once. You following me?” Me: (light bulb moment) “Yes.” Dr: “Her brain doesn’t work like ours. We wake up slowly—stretch, blink, yawn. But they get brain fires all at once. Neurons trying to fire, crisscrossing, some hitting, most not. That’s what causes the tremors. That’s why her body reacts that way.” Me: “But she also shakes when she’s excited. Or scared. Or happy. Or hurt. Or anxious…” Dr: “Do you think your normal brain fires differently when you feel those things?” Me: “Oh my God…” Dr: “All those emotions—excitement, fear, joy, anxiety—they also cause her brain to fire differently. And it manifests differently because her brain and body work differently. That’s why we also call it a movement disorder. Her brain wants her body to respond, but it can’t communicate it correctly. So we see tremors. Rett Episodes.” Me: (Looking at her. Bursting into tears.) “I get it. I get it.” Dr: “We’re not saying she’s never had a seizure or never will. But based on what we’re seeing here—she isn’t. I hope this gives you some comfort and understanding. Her brain is intact. The neurons just aren’t firing to the muscles properly. That is the tremor. That is the Rett Episode.” I felt I had to share this for those of you dealing with the same confusing stuff. I know there are kiddos out there who are more severely affected than Abby. But if this helps even one parent better understand what’s happening—I’m glad I wrote it. No one ever explained it to me this clearly. And now I get it. I finally understand what’s happening to my girl. Thank you for reading. —Terri & Abby