scoliosis and kyphosis
small hands and feet
breath holding
parkinsonian tremor
anxiety
compulsive hand movements
loss of motor control
poor gut motility
lack of puberty growth spurt
apraxia
loss of hand function
normal head size at birth
blue feet
vacant spells
reduced bone mineral density
nonverbal
innability to chew
dystonia
normal prenatal and perinatal history
teeth grinding
laughing spells
lower limb muscle atrophy
deceleration of head growth in first year
delayed from birth
eye pointing
Here are the ones she doesn't have(yet):
-seizures(not all have seizures)
-disrupted sleep pattern(she requires lots of rest/sleep, more than the average bear, but is that considered 'disrupted'? Not sure.)
Now, granted, kids with all sorts of different issues will show some of these things, but the key here is that Sarah shows all of them, except one or two.
So that's why I stick with Rett.
Sarah is turning out to be a teeny, tiny 14 1/2 year old. She holds at 4'10 inches and 69 pounds. She continues for the past 8 years to wear a size 12 toddler shoe. Her pants have remained a girls size 10 for the past 3 years. She is done growing and at this point I work to keep her weight up.
Lately, there are a few troubling trends. One is that she has more and more hand tremors which is starting to interfere with the one thing she does do purposefully with her right hand: turn pages of a book or magazine. I notice that sometimes she cannot get her hand to turn the page, it just tremors and seems stuck in space. At which point I help her and get it going again. Secondly, she is having trouble initiating a swallow. It only happens when I am giving her a drink. I hold the cup to her lips but it takes her 10 seconds or so to get the swallowing thing going while the liquid drips down her chin. She works hard to do it because I see her hands fist up and get tense. This has never been a problem before. And finally, she is not going to the bathroom unless I give her a suppository. TMI, I know, but it is a worrisome development.
The first problem I attribute to her increasing dystonia, the second to her increasing apraxia and the third? Not sure on that one. The first two make me sad because I watch her struggle to do something which just a few months ago was effortless.
Boo. Hoo.
On a good note, she is happy and healthy. She listens intently to what we are explaining to her and now, she listens to me on the phone when I call from work! This is awesome because before I leave I tell her I will call her on the phone. She understands what I am saying while she listens to me babble on to her about her evening. It's great to be able to connect with her when I am not there. Pretty soon we are going to have to start calling her brothers!!!! Ha! She does not speak, but she is listening.
Her cognition is growing, while her body gets stiffer.
Rett Syndrome is a cruel disorder.
Just saying.
