27 January 2013

a ruby update

so, i know some of you have been waiting to hear about how ruby's neurology appointment went on tuesday. i've been waiting to update here until i had kinda processed the appointment and wouldn't send myself into a downward spiral by re-hashing it all again. but, i am managing it all okay right now, so here goes!

we took ruby to children's hospital on tuesday & she met with a neurology fellow (about to graduate, so that's good!) and an attending. they got a developmental history from us & did some checking out of her, as far as how she looks crawling, walking, etc. they said their first impression of ruby is that there is something going on specifically related to the nerve functioning in her lower half. in general, they noticed that ruby's weakness seems localized to her lower half & isn't more generalized. they ordered a blood test to rule out muscular dystrophies, which we did that same night. secondly, they said they'd like to schedule a nerve conduction and EMG. both of these will give us an idea of the level of nerve functioning in her legs. lastly, they want to schedule an MRI to make sure her spine looks okay.

it was all a lot of information to take in & pretty scary but the doctors were very knowledgeable & comforting, so that helped a bit. i still cried the rest of the night, of course, but that's just par for the course, with me.

dr. verma (the neuro fellow) discussed the blood test results on wednesday with me. he said that ruby's blood results are not indicative of muscular dystrophies, which is very good news, to say the least. he did say that her CK levels were slightly elevated (300, when a normal reading is about 170. CK levels in children with muscular dystrophy are in the 1000's.) he said that he would like to run a blood panel for SMA (Spinal Muscular Atrophy) Type 2 due to the slightly elevated CK levels, as that can sometimes be a symptom. we are praying for ruby to not have a diagnosis of SMA, as it is a degenerative disease. there are no real prognosis predictions for it because every diagnosis is different, but we do not want it to be ruby's diagnosis regardless.

the blood test takes 4 - 6 weeks to get back, since it is genetic testing. and I have to take her in for a blood draw AGAIN for it, which is a big bummer. we are going to go tomorrow morning and just get it over with. in the meantime, we did schedule the nerve conduction & EMG for the end of february. hopefully we will have the blood results by then, too.

but until then, we won't really know anything else. the waiting is hard. at the same time, it is more time for us to continue on like we are without having to acknowledge a diagnosis that we really don't want (IF that turns out to be the case). I guess what I'm saying is if it's bad news, I don't want to know. but if it's not horrible, the sooner the better. i've stopped googling all together. i don't even look at the babycenter boards anymore. i have been trying to stay off my phone & just focus on ruby & T & our time together. i hate that it's taken me this kind of an experience to do that, but it's the embarrassing truth.

so, until the end of february, i hope to not freak out too much & to just enjoy our family. any prayers are appreciated. thank you, to those of you who read this. the support we have had from friends & family has made all the difference for us on this journey. so consider yourself virtually hugged.

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