I think that appointment is going to live on in infamy in my mind for a very long time. Not only was it downright awful but those are the kind of days where you really "feel" your child's disability and how rare and debilitating it is. She is doing awesome, don't get me wrong, but days like that of poking, prodding and talking about it puts it all under a microscope. I hate days like that.
Anyway... first things first. What tests we do now. EEG to check for seizures. Yup, seizures. Fun! New genetic test to check for anything that was missed on her genetic screen done in 2008 which is apparently an inferior test to what is available in 2010. Full blood panel (done yesterday) to check her thyroid, endocrine function and her baseline numbers for general blood tests. We are looking for a culprit on why she eats so much but fails to grow. (At 30 months she is still at 22lbs.) If that blood-work is normal we will move on to a full metabolic and endocrine work up. Meeting with nutritionist to figure out her caloric needs. If she is meeting her caloric need but fails to grow we know we need to keep looking. Functional visual assessment to look at the dysmetria and visual processing issues. Sleep study to see what is waking her up in a blind panic. We can wait on this one until the others are done. She isn't going to need another MRI until after her next follow up but she had some thinning in the CSF in her cerebellum that we will need to monitor throughout her lifetime.
In terms of expectations he is very pleased with how she is doing. He unfortunately saw her falling episodes so got to see first hand how tough it can be for her. He feels that the ataxia and lack of protective reflexes are something that could improve in time but will require a lot of therapy and work.
She is now going to have to wear lower leg braces called Surestep braces. They will supposedly help with her leg ataxia. So we'll see how that works.
All in all it sounds like a lot (and I am feeling a little overwhelmed at the moment) but we really can't let anything slip. Something small could seem like nothing but for a kid with a genetic anomaly it could be huge in terms of their developmental and outcome. Hopefully all of this will yield some good information.
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6 comments:
Stay strong girlfriend. It would be easy to get overwhelmed but just think of how much easier it will be for her in 2010 and beyond with science and technology versus a decade ago. It's hard to accept the things that we cannot change (never more so than with our kids), but acceptance is just what your girls need from you. There's a happy place where true acceptance of their disabilities meets hope and effort towards some recovery. I pray that that place finds you.
Hugs to you! Good luck with some of those procedures - we've been through multiple EEG's, and a sleep study, and of course, we actually do deal with seizures, so if you need any help here I can help. Hopefully everything will be great. I can tell you that investing in a new movie or two, or a new toy or a portable DVD player for those procedures might be worth it. For Cici, it's not a big deal, but if I had to do those with Penny I would bring about a zillion distractions while the leads are being put on the head - they HATE that part. So, new, fun, distracting stuff, whatever works, I would get some! Stickers or whatever she likes. Go to the dollar bin at Target and go nuts! Good luck with the splints - there are a lot of different types out there - what does your PT say (do you have one? I forget).
Anyway, I'm here for you if you need it! Thinking of you!
They recommended Sure Step braces for her. I went to their website and they look like they would be great for her low tone and pronation. I just have to find an orthotist now... :D
It sounds like you are in good, capable hands. That has to be a relief. What's the deal with the night panic? Is it night terrors? One of my twins gets those a lot.
She gets night terrors about once or twice a month. Aside from those she wakes up a couple times each night crying. It doesn't sound like much but they get concerned if they always wake up crying because of possible apnea. It is doubtful that is the case but they want to cover their butts on every turn.
Thanks for the update. Ive been thinking about you guys!
Sorry Ive been MIA from MOMS..my computer is broken, and I don't have the link to it, or my password.
<3 to you guys!!!
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