Friday, June 24, 2011
Overall, the appointment went well. KayTar was in TRUE FORM, so it was good that we invited my sister-in-law/best friend along. When the doctors needed to get a word or two in, or I needed to answer a question, she occupied KayTar perfectly...but when they wanted to talk to KayTar, oooh boy, did they get the full experience. She was hilarious. She made everyone who came in the exam room laugh, then Dr. K took her out to the nurse's station to entertain everyone. After we left and went over to the lab, my SIL went back to ask a question for me and they were still chuckling and talking about KayTar. I can't even remember exactly what was so funny...I know there was a line of jokes that came from the resident mis-hearing her describe her lunch as "chicken and flies", another line of jokes with KayTar insinuating the resident was trying to steal KayTar's pretend cell phone for her own daughter, and the hilarious way she lifted up her shirt and said "Wa-BAM!" when they asked to see her g-button. Oh, the doctor also tried to set KayTar up to marry one of her other (cute and funny) patients and even showed her his picture, but she still insists she is going to grow up to marry M, her Kindergarten boyfriend. If you have to be at a specialist's appointment, I recommend going with KayTar, because she brings the funny.
On to the business portion of the visit! First, there were insurance issues. The doctor is covered, but the facility is not...or something, so we've been dealing with since we made our appointment. I *think* it is worked out now, but we'll see if we get a big bill in a few weeks. Second, our hospital (where KayTar has seen nearly all of her specialists and had nearly all of her testing done) JUST sent their records over TODAY. GAH! I sent requests over a month and a half ago and it was only supposed to take 2 weeks to get them sent out. She did have time to go over them before the appointment, but they failed to send some important stuff like her LP results and imaging studies. Ugh. I have to go fetch those by hand and deliver them so it doesn't take 100 years for them to release them. Other than those blips, it went smoothly. She feels like KayTar has a classic presentation of a metabolic disorder (due to the systems that are affected and her history/symptoms) and that the abnormal pathology on her muscle biopsy was such that mitochondrial disease is a possibility. She said there have been a lot of testing advances since her biopsy 2-3 years ago and they can diagnose a lot of conditions more easily now, and in 6 months or 12 months it will be even easier...so she thinks we'll figure it out. She thinks it is important to figure it out, which was a relief to me, because most doctors are content with the "she's doing well, so let's not worry about it" mentality (with the exception of her awesome pediatrician). She IS doing pretty well and we are thrilled, but in 6 months or a year, she might not be doing so hot...so I think we should do what we can while we aren't in the pressure cooker of some sort of crisis, so we know what to do if we get into one.
During the exam, she noted two new things, bilateral ptosis and upgaze paresis. That is fancy talk for droopy eyelids and her eyes turning inward when she looks up. It actually made her feel sick to track the object upward, because her eyes were doing this. Her eyes always seem to be causing her one kind of trouble or another (tonight she got another head/eye-ache...too much excitement today, perhaps)!
So, the plan is this: today KayTar had metabolic labs drawn (lactate, pyruvate, acyl-carnitine profile, plasma amino acids, ammonia,) along with some blood for genetic testing for glycosylation disorder, mtDNA, CMA, POLG1, and urine organic/amino acids. They are ordering a new MRI. Then we will follow-up in September to go over the results and decide where to go next. She said they may want to reorder an EEG, inpatient fast (nooooo!), and maybe even a new muscle biopsy, depending on how things go. Part of me hates that we're going to put her through this testing rigmarole again (especially testing that has been done before), but part of me is hopeful that maybe it won't be a total waste this time, with the right doctor reviewing the results. She was definitely displeased about getting labs done today, and did give a pretty loud scream for both her pokes (first one started to blow and stopped giving blood), but at the end of the day she rated the talking part a 100, the lab part a 0, and said it all averaged out to a 100 for her anyway (I'm sure the post-labs bribe helped somewhat). So yeah, it sucks to put her through this stuff again...but if SHE can look at things with such a good attitude, then so can I. Maybe this time when it is all said and done, we can look back and say it was worth the trouble!