k2bdeutmeyer Posted November 27, 2012 Share Posted November 27, 2012 (First off....I have no idea why part of this is bolded and part isn't......you'll just have to deal with it, lol) So, DD had her annual metabolic geneticist appt today. As far as her metabolic issues, we're doing well and managing effectively. We'll continue to follow her as if she has Glycogen Storage Disease Type 0, even though we can't say for sure that she does (she's definitely a carrier, but doesn't show the 2nd mutation required to call her "positive" for disease). BUT.....we walked away with 2 new referrals. Sigh. 1. She's being referred to a pediatric ophthalmologist. She has nystagmus. Basically, her eyes do not track objects smoothly. Her eyes bounce or almost quiver as she tries. Anybody know what they do for that or what it means? 2. She's also being referred to a pediatric orthopedist. I've noticed (for a few years) that her left hip pops/grinds deep inside during certain movements - it actually grosses me out. It almost feels like it pops out of the socket and then back in. The doctor commented today that while her legs appear to be the same length, the creases where her butt meets her legs are uneven (and they are....significantly). This could mean she has hip dysplasia. If that is the case, it would mean surgery and a body cast. Sigh. I can't imagine doing that with a HIGHLY active almost 6yr old. So....we wait for phonecalls to set up the appts. I swear it's always something. Quote Link to comment Share on other sites More sharing options...
Mom-ninja. Posted November 27, 2012 Share Posted November 27, 2012 :grouphug: Quote Link to comment Share on other sites More sharing options...
besroma Posted November 27, 2012 Share Posted November 27, 2012 Wow. {Hug} Quote Link to comment Share on other sites More sharing options...
plain jane Posted November 27, 2012 Share Posted November 27, 2012 I haven't been on the boards much to follow what is going on with your dd, but it sounds like a lot to take in. I'm sorry. I hope you get some real answers soon. I would be very frustrated too. Quote Link to comment Share on other sites More sharing options...
k2bdeutmeyer Posted November 27, 2012 Author Share Posted November 27, 2012 I haven't been on the boards much to follow what is going on with your dd, but it sounds like a lot to take in. I'm sorry. I hope you get some real answers soon. I would be very frustrated too. You didn't really miss anything :) The metabolic issues (what the appt was for) is really nothing new. We've been following her since she was 2.5yr old. She'll be 6 in January. Essentially, she can't maintain her blood sugar on her own for more than about 8-10hr without food, so anytime she gets sick and her intake is down, she requires hospitalization and a glucose IV. We realized there was a problem when she was 2.5 and had a stomach virus......when we brought her in, her blood sugar was 23. This appt was mostly just to make sure that the protocols we have in place were sufficient and working well (they are). However, because we still can't say for 100% certain what is causing her condition, they are always looking for new symptoms that could give them a clue as to what we're dealing with. A lot of these metabolic disorders go hand in hand with developmental delays and other physical abnormalities, so that's where the rest came from. Quote Link to comment Share on other sites More sharing options...
k2bdeutmeyer Posted November 27, 2012 Author Share Posted November 27, 2012 Bumping in hopes that maybe somebody has gone through the nystagmus thing and can give me a clue?!? Quote Link to comment Share on other sites More sharing options...
fraidycat Posted November 27, 2012 Share Posted November 27, 2012 :grouphug: Quote Link to comment Share on other sites More sharing options...
zimom Posted November 27, 2012 Share Posted November 27, 2012 Can't help with the nystagmus (although I know what it is), but my youngest has had two body (hip spica) casts. Not fun but survivable. A least one more surgery planned but her ortho has told her he isn't planning on a hip spica this time. Quote Link to comment Share on other sites More sharing options...
Forget-Me-Not Posted November 27, 2012 Share Posted November 27, 2012 :grouphug: I've been thinking about you. How are you doing pregnancy-wise these days? Still sick? Quote Link to comment Share on other sites More sharing options...
k2bdeutmeyer Posted November 27, 2012 Author Share Posted November 27, 2012 :grouphug: I've been thinking about you. How are you doing pregnancy-wise these days? Still sick? Um...significantly better than I was :) I've kind of hit another plateau. Eating is a chore & not pleasant. I can only eat what sounds good, and often don't feel well afterwards. I have far more aversions than I do cravings and my energy is next to nothing. But, I'm eating, and able to run the kids where they need to go most of the time, so I'm trying to not complain. Quote Link to comment Share on other sites More sharing options...
Forget-Me-Not Posted November 27, 2012 Share Posted November 27, 2012 Um...significantly better than I was :) I've kind of hit another plateau. Eating is a chore & not pleasant. I can only eat what sounds good, and often don't feel well afterwards. I have far more aversions than I do cravings and my energy is next to nothing. But, I'm eating, and able to run the kids where they need to go most of the time, so I'm trying to not complain. Glad things are better with that! Hope it's good news on your referrals :) Quote Link to comment Share on other sites More sharing options...
Tiramisu Posted November 27, 2012 Share Posted November 27, 2012 :grouphug: One day at a time. Quote Link to comment Share on other sites More sharing options...
k2bdeutmeyer Posted November 28, 2012 Author Share Posted November 28, 2012 :grouphug: One day at a time. You're so right.....but I'm so impatient, lol. Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You can post now and register later. If you have an account, sign in now to post with your account.