Saturday, March 22, 2014

Sights and Sounds of Rett Syndrome

I have a confession.  Rett Syndrome manifests itself in a wide variety of sounds that constantly come bullying their way out of Lucy. CONSTANTLY.  Except for when she is asleep. My confession is that sometimes, often toward the end of the week, when I have been with Lucy all day, every day, and sometimes at night when she wakes up for no clear reason, I feel as if I may just explode, or cry, or scream if I hear  Rett Syndrome force Lucy to make ONE MORE SOUND. It's ironic, since she can't speak, that Rett never stops making itself heard. 

For those of you who have never met Lucy, or any girl with Rett Syndrome, or who just haven't been around Lu much, I'd like to share with you some of the sights and sounds that Rett Syndrome plagues Lucy with each day. Again, keep in mind that the moment she falls asleep, she is free of all of these things. They just go away, and then return immediately upon waking.

Look at her here, at peace:

But here are some things that happen while she is awake:

1.) Never ending hand flapping. This will likely become hand wringing someday, (and has been in the past) and eventually maybe just a pair of clasped hands, but for now they never stop flapping and tapping. Because of this she sometimes pulls her feeding tube out during a feed, so we have to be very careful of where we put it and her. She smacks her own face by accident sometimes, but the most frequent victims of the accidental smacks are me and Chad, or whoever may be holding her. 
2.) Near-constant breath holding. When she holds her breath, it is also completely involuntary, like her hands. Her face can become very red, she arches her back, and contorts her body, and gasps, and makes a grunting sound similar to what it sounds like when she is trying to poop. So, she does this all day long. 
3.) Tooth grinding, also near-constant. Imagine someone running their nails down a chalkboard beside you all day. It makes me feel like that. And she is grinding one of her front teeth down more and more each day.  The tooth grinding plus dystonia causes Lu to hold her bottom jaw cooked and grimace sometimes. 
4.) Choking, gagging, coughing. This happens when she is eating by mouth. We still always have to be prepared for the possibility that she will choke or gag and vomit. A bowl still always sits near us at the table for catching puke. She has actually learned to request "mixing bowl" on her Tobii when she chokes or cough on something. 
5.) Hiccups. She gets hiccups often during her feeds. Sometimes they make her puke. Often they sound like fireworks exploding in her belly. 
6.) Similar to Lu's hand flapping, sometimes she has a low sort of moan/whine/cry that she really can't control either. Some days it is also nearly constant. ,

But, I am used to all of these things.  They are simply a part of Rett a Syndrome. As each of them has joined Lu's list of symptoms, we have checked with Dr. Sasha to make sure they are common, and "normal", and they are. And I barely notice them. But sometimes, when I am tired, or like I said, it's the end of the week and  I have spent five days in a row on my own, they begin to wear on my nerves. I can only imagine how they make Lu feel at, I cannot imagine.

Now, on top of those things, let's throw in that Lu can't walk and now weighs an amazing and triumphant 35 pounds. It is getting increasingly difficult to carry her around all day. I just feel like a struggling, tripping, exhausted fool for most of the day as I transfer her from one chair to another.  To the floor, to the potty seat, in and out of the shower, in and out of the van, in and out of her wheelchair, in and out of her stander or walker.  And then, add to that the times when she is also hooked up to her feeding tube and I have to drag that along with us. I painfully step on things that I can't see, or I trip and nearly have a heart attack. Frankly, I just get frustrated with how awkward every single maneuver that we have to complete can be. 

I hate when I write this kind of post. I know it is kind of, "Boo hoo, woe is me, whaaa!" I know, and I try most of the time to focus on the positive, but the fact of the matter is that there are just some really un-positive, downright miserable parts of Rett Syndrome. And I can't fix them or change them. I can't program the crap out of Lu's Tobii to make her quit grinding her teeth. There isn't a known therapy in the world, to make those hands stop flapping. So many things about Rett just "are" and we are supposed to deal with it and accept it. 

And Chad and I do a bang up job of that I think, but usually once a weekend I just need to escape for a couple of hours. The things I doing during my escape are never anything exotic, or exciting, or even "just for me". My escape usually includes getting groceries, stopping at the library, and maybe sometimes picking up a prescription. Occasionally I might have a special lunch date with my friend Diana and then we go to Goodwill and that is just for me, but those don't happen very often. So, back to my confession. I have said that those sights and sounds just wear me down eventually, and they do. One statement that I have never said out loud, even to Chad is this: I just need some time each week, no matter how short or mundane, to not see and hear Rett Syndrome. And that is the second part of my confession. I teared up just writing it because I feel so guilty to think and feel that way. I know that it doesn't not make me a bad mother to feel that way, but I often struggle with rational thinking over emotional thinking. But, it's not Lu I need a break from, it is just Rett and every freaking thing that goes with it. 

I learned the term "enmeshed" at my last job as a family-based counselor. It means too close. A relationship that is just too close. I imagine Lu and I are enmeshed, but I don't plan to change that, or even know if it is possible, or even want to.  We have to be; I am her legs, and her hands, her arms, and her voice. It is hard to not get enmeshed when a person relies on you so completely. I miss her when I am gone for two hours. I worry that something might happen to her while I am away. But...I must get away, if even for a short time, just to regroup. 

I can't remember if I have shared this picture before, if so I apologize for sharing it again, but I just love it. 


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  2. Yes. I'm trying to say more, but can't without crying. That says it all. Just, yes.

    1. Leslie, I am happy and sad that you know just how I feel. Take care.