Katie loves the wind, she gets that from me. 🙂 We love to go to the boardwalk at Grey’s Beach and feel the warm, salty breeze on our faces. Sometimes, when we are walking and the wind sweeps by, soaked with rain, but not yet raining, she’ll stop and raise her face and close her eyes. I bet she likes the smell, too, of the salt, and the rain, and musky damp leaves. She even likes the wild wind (if it’s not too cold) and she’ll laugh, sometimes, with abandon.
Air, the invisible necessity of Life. It wants to fill you, be part of you, fill your lungs and feed your blood and body. But sometimes Rett syndrome has other plans.
Breathing abnormalities are prominent in Rett syndrome; most girls have an irregular breathing pattern when awake. They can hyperventilate- causing decreased CO2 levels in the blood leading to fainting. They can hold their breath-causing decreased 02 levels leading to fainting. Their lips turn blue. It’s frightening. It looks like they are fighting for every breath. And then they sleep, and it all goes away. I bet some parents almost wish they just sleep and sleep so they can see their child at peace, no war between their brain and body.
And then, sometimes it’s at sleep they have issues, as some girls have sleep apnea; luckily there are things that can be done for this. Katie had a similar problem-she’d choke in her sleep due to her kyphosis and hyperextension of her neck, now she has a bed that the head can be raised on, which took care of this. Usually, these types of issues, while uncomfortable and hard to watch, don’t rob you of your breath for long. That award goes to pneumonia.
Pneumonia. one of the BIG ones. One of the leading causes of death. Pneumonia. A word that strikes fear in the strongest hearted parent and caregiver. The most common kind is aspiration pneumonia. Here are some of the leading causes of aspiration pneumonia:
1. GERD (reflux)
2. Swallowing problems- dysphagia
3. Tongue thrust
5. Spinal deformities
6. The need to be fed by someone
Guess how many of those are common in children with Rett syndrome….all of them. For Katelin the first and last two are the most significant. There are other causes of pneumonia-disease, being on a ventilator, hospital acquired (guess where our children spend a LOT of time) which is often resistant to antibiotics. But Rett syndrome gets you there, too, as several of the same reasons for aspiration pneumonia make it difficult to recover from pneumonia caused by these other things. Now, I’m not going through these causes one by one, I’ll just skip to the one that worries ME the most- Spinal deformities.
There are two spinal deformities that attack our children-scoliosis and kyphosis or a combination of both. In layman terms, scoliosis is basically when your spine is twisted or bent sideways; kyphosis is when your spine bends from a vertical plane toward a horizontal plane, causing a hunchback. This is what Katie has. So here’s what I’d like you to imagine…
Picture yourself holding a wet sponge in your hand under a faucet. The sponge is the lungs of a Rett child, your hand is their back and the water from the faucet is air. Squeeze the sponge and let go. There it goes getting all filled up with water again. Works great, huh? Now, squeeze but don’t ease up on the left hand side. For extra measure, take your other hand and give the sponge a good, hard twist. That’s scoliosis. Each time you squeeze hold more and more of the left. Not too much water getting back in that sponge, is there? And that’s how it goes. Your own body squeezes the air right out of you and prevents new air from getting in. A lot of girls get surgery, but it’s major and comes with it’s own set of risks. For some, nothing can be done and the brutality of that is something I hate to imagine.
Now, imagine that same sponge, but instead of squeezing and holding one side, squeeze the whole sponge. And little by little, let up less and less, until your hand covers the sponge all the time, and the sponge is smaller and smaller as no water can get at it. That’s kyphosis. That’s what I watch for. I am waiting for the day the ortho doc says “the xray shows decreased lung capacity, time to do surgery.”
There is this quote: Life Is Not Measured By the Number of Breaths We Take, But By the Moments That Take Our Breath Away. For families living with Rett syndrome, Life is measured by both, but not in a good way.
Yet, despite all the things we worry about, the beauty of our children, their courage and strength, do take our breath away. And when a treatment/cure comes, that will be the best breath of fresh air.