When Becca went in for her 48-hour EEG, she had an eye exam as well. The eye doctor saw that her optic nerves were pale and wanted to schedule her for a full eye exam. This would involve using anesthesia so that they could easily get clear pictures of her eye.
This happened last Thursday and I'm happy to report that the day went very smoothly. Here's dear Rebecca all ready in her hospital pajamas. PS- They really should get new pajamas.
You can't tell from the pictures, but she was in very good spirits for the whole day. The exam took about a half hour and then we had to wait a little while after that before we got to see Becca. When they brought us in to the recovery room Becca was still in very good spirits and it was almost as if nothing had happened. I was so grateful because when she was put under for her MRIs she had a really hard time waking up and was unhappy for a day or two.
The results: 100% completely normal! They didn't tell us until after the fact that part of the reason they were doing this test was to see if she has something called Batten disease. I think they chose not to tell us ahead of time because it's a very depressing and fatal disease. But, well, no worries because everything was normal. The doctor even said that when they got a good look at her eyes he saw that the optic nerve wasn't even really pale (apparently Becca wiggled her eyes a lot for the other exam). So yeah, no new clues into our little puzzle girl, but we never mind getting normal exams! It's always nice to report good news.
Sunday, August 2, 2009
One thing that nobody's ever been able to find a good reason for is the state of Becca's hair. It's really curly, which I think she gets from me, and she tends to get a bit of a mullet because she spends so much time on the floor still; there's a swath in the middle of the back of her head where the hair never gets long because she's always laying on it... just like any kid that still spends a lot of time on their back.
But that's not the issue, that all makes sense. The question mark is that Becca's hair is still really fine. At least I think that's the problem. It seems like little babies have much finer hair than adults, and it gradually gets coarser or something. But Becca's hair is still really really fine, and hasn't grown in very thick, either. Although the thin thing might be because it comes out really easily. She usually loses a bunch if we put any ties in her hair. One time she was playing with her cousin Logan and he came over and yanked a whole clump of hair out of her head. She didn't seem to mind at all!
We've mentioned it to the neurologist and the genetecist, and they both seemed to dismiss it -- or at least, not bother addressing it in front of us. Sometimes it's hard to tell if doctors really hear you or not. When we mentioned it to Dr. Savage she said, "I assume she's had her thyroid checked." We said, "uh, no..." So we got that tested, since apparently that's a common cause of hair loss. The first time they tested her thyroid, it came back just slightly outside the normal range (now I can't remember if it was hypo or hyper... should have written it down before), so they tested it again and it came back normal that time.
The only reason I even bring this up is because none of the likely candidates for a diagnosis (Angelman, Rett, etc.) seem to list anything abnormal about hair in their list of symptoms. Nobody's ever said "oh, that's normal for kids with..." any of the possible problems Becca's got. So maybe it's a red herring, maybe it's completely unrelated, or maybe somebody somewhere will say "does her hair fall out really easily?" and we'll say "yes!" and they'll say, "well, then obviously is Kerbsmilter's Syndrome" or something like that.
I guess more importantly, because Becca's hair can't seem to get very long, we're at a complete loss for what to do with it. Most days she looks like Cindy Lou Who (or maybe Medusa) with her unruly curly locks. We've recently started putting a little pomade in it so at least the locks kind of clump instead of looking like a complete mess, but we'd love to hear any thoughts anybody has on what to do with this girl's hair.