Following Up.

Today was KayTar's follow up with her mitochondrial specialist. It wouldn't be a visit to that particular clinic without a little insurance drama, so at check in they told me AGAIN that they don't take our insurance and I explained AGAIN that the doctor is in network for our insurance and we have seen her successfully before and our insurance has paid for it. She called billing and said that we would have to pay for the visit out of pocket and then file for reimbursement...it is never awesome to hear you are going to have to pay 300-400 dollars our of pocket as a surprise, but we didn't want to back out of the visit at that point, so I agreed. I have no doubt my insurance will pay as I've called them about 15 times about this situation and they always, always insist the doctor is IN NETWORK and needs no further authorization. It is a very frustrating situation, but hey...a few years ago we didn't even have insurance to get frustrated about, so I know it could be much worse than this. And the truth is that insurance is more than willing to pay, the clinic just doesn't seem to want to do the legwork.

On to the actual follow-up part of the appointment...R came with us again, in case KayTar needed a little attention while I was talking to the doctor, but it was unnecessary (but fun to have her company, as always) as KayTar was completely entertained with the two brain models that were in our room, along with a clear plexiglass head to put them in. She pretended to do brain transplants for most of the visit. At one point she changed from a brain surgeon into a zombie and cut the brain into "brain pie" and served it up to us from the head/bowl. So many fun things to do with brains! She really, really wants her own model brains (and tuning fork) now. As for the medical part of the visit, KayTar's labs came back within normal limits and her MRI was read as normal, too. I'm somewhat confused about the MRI as she has had 2 previous MRIs that were abnormal. I'm not complaining about a normal brain, but I'm not really sure how it went from abnormal to normal. She hadn't looked over her previous films (she didn't realize she had them), so she couldn't really explain it to me. She did say that certain metabolic diseases can present with brain abnormalities that later normalize. Also, two vials of KayTar's blood from last time was lost, so we had to re-draw labs for the acyl-carnitine panel and glycosylated tranferrin panels. KayTar was not a fan of the lab work, BUT the tech got it in one stick, so I was pretty pleased. The doctor said she is not going to diagnose her with mitochondrial disease because in looking through KayTar's medical files, she thinks that KayTar may have a treatable metabolic disease and she isn't ready to stop looking at this point. After mitochondrial disease is diagnosed, the search is off and we're not there yet. I nodded my head and said, "Yeah, okay." and she said, "Wow, you took that better than I thought." I guess some people come in there really looking for a diagnosis and take it hard when it isn't there right away....or maybe she is secretly reading my blog (yeah, right) and knows how much I want an answer for all of this. Yes, I'm looking for a diagnosis, I practically dream about it...BUT I want the right diagnosis when all is said and done. We started seeing this doctor because we were told she is the kind of doctor who cares about finding the right answer, whether it is mito or something else, and thinks a diagnosis is important. In our experience, many doctors don't feel this way, so I'm glad that she is committed to helping us figure it out, regardless of what the ultimate outcome is. She is referring us to a metabolic geneticist that she works with regularly and after we see her, the two of them will formulate a plan together...it will likely include another fasting study which is my absolute least favorite test of all time. I wonder if *I* can be sedated for this one. ;)

After the appointment, M (who is my savior in this clinic, she has been so patient and helpful through all of this which allowed me to keep my sanity!) came in and said we didn't have to pay up front, because she told billing they had to bill my insurance, because we already have proof they will pay. She told them that they either need to get their doctors pulled out of our plan so we can apply for out-of-network care or just agree to bill the insurance. Yay! But then I came home to a message about KayTar's pulmonology visit next week at the same facility...they said if we don't self-pay up front for the visit, they won't see us. The same goes for further appointments with the doctor we saw today. Since the metabolic geneticist we are being referred to also works out of this office, I'm sure the same goes for her. AGH! It took over an hour to get KayTar's pulmonology visit scheduled because the schedulers were insistent that they do not take our insurance...so I know the same will happen when I call to get her in with the geneticist. All of these doctors are in our provider directory, but that office just doesn't want to deal with our insurance because the clinic is not contracted with our plan. So now we are looking at possibly switching plans to see if we can get both our hospitals and all of KayTar's medical team covered, which span the two different hospitals and affiliations with two different medical schools...but I'm a little scared to switch based on a provider directory, as I've learned just how WRONG they can be! All of KayTar's doctors are listed in our current directory, but we are still having major issues with it. It doesn't really seem right that if insurance is willing to pay, the clinic can still keep us from being seen, but it seems there is little that I can do about it. I guess I should look at it as a learning experience, because by the time I am on the provider side of the medical billing process, I'm going to know more than I ever wanted to know about things like this!

The Appointment.

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!

Oh, that KayTar.

Yesterday was supposed to be KayTar's hospital follow-up appointment with endocrinology, however, I had midterms...so I called 3 separate times to cancel it and reschedule. I attempted to get in touch with a Real Person, but it is increasingly more difficult to speak with a real person in the hospital clinics, so I settled for leaving a message each time. After midterms yesterday, I came home long enough to have lunch before heading to the kids' school to help with Book Fair. The phone rang and it was the endocrinologist. She said, "KayTar was supposed to have a follow-up appointment today, is everything okay?" I explained I had tried to cancel it several times, but evidently no one had been checking messages. Halfway into our phone conversation, I got a call on the other line from the scheduler, she had FINALLY check her messages, just a tiny bit too late. It all worked out well, though, because we did the follow-up over the phone and it saved me about 3 hours.

Long story short, 4-5 out of 20 items on KayTar acylcarnitine profile were abnormal and she had a small elevation of her free fatty acids. For those of you who are not native speakers of Medicalese, this indicates that KayTar probably has an underlying metabolic condition. Based on these specific labs, it is likely to be a fatty acid oxidation disorder, but no one knows at this point. In fact, all of this may lead nowhere in the end...as we've found to be the case more often than not. Her lab results received an automatic flagging in the hospital system and the metabolic clinic was alerted, so we'll be following up with them as well. I'm glad they did get a bit of a lead from that horrible, horrible study, though...it makes me feel just a little less terrible about all of it.

Regardless of how the results turn out in the long run, KayTar is doing very well now that we have added cornstarch to her morning feed. All of her numbers have been in the 80-90 range! She was sick recently and although she did get ketotic, she never became hypoglycemic. We're pretty pleased with how well it is working!

Enough medical talk, though. It has been a while since I've done a Quotable KayTar post, so I'd like to leave you with a few of my favorite recent quotes:

"Mrs. M's (the librarian at school) lipgloss makes her lips look so plump! She's like a hot lady!"

At cub scouts on Monday, the scout leader started to do announcements and KayTar piped up, loudly, "Yadda, yadda, yadda..." Josh almost DIED from embarrassment.

When telling my mom that her friends at school don't believe that she got to go to NYC for a photo shoot and be in a magazine, "You know, everyone is SO jealous of me."

While we were in the hospital she said, "I don't really want my skin to get darker, so I'm not going to eat any melons." I asked, "Okay, but why aren't you going to eat melons?" And she said, "Because of the MELANIN!" (she knows melanin is what makes skin darker, and she assumed it came from melons, LOL!)

Last week, KayTar got a conduct mark for kissing a boy in PE. When I asked her why she did it, she said, "Because I was looking for a little romance!" This one takes the cake.

Liver labs, re-redux.

Last Tuesday after KayTar's hearing check up (still half deaf...well, profoundly deaf to be more precise, but only in one ear), we had her ALT/AST labs drawn for the third time this summer. They didn't use enough EMLA cream and her skin was NOT numb. They had to stick her twice. She was uber displeased, but at least it was better than the four pokes it took last time. For three sets of liver labs, she was poked a total of SEVEN times. Boo.

Anyway, I got the results today...ALT is still slightly elevated! So that means...(drumroll, please)...MORE TESTING. I have to call GI tomorrow to get her back in there for a visit, then we go from there.

Still.

I got the results of KayTar's LFT recheck labs yesterday. THIS time her ALT is mildly elevated and her AST was at the high end of normal. LAST time her AST was mildly elevated and her ALT was within normal limits. Aye yi yi. More abnormal and nonspecific results!

However, I was doing some reading and it sounds like this is a typical laboratory finding in kids with GSD 0, which genetics is currently working her up for. Interesting. Of course, none of her doctors put this together.

Endocrine called Gastro (quick aside for you non-medical folks: gastroenterology also handles hepatology, hepatology focuses on the liver, LFTs are liver function tests) about the results, since they were still abnormal. Gastro wants them checked a THIRD time and will order further testing if they are still abnormal. Anyone want to place a bet?

Today I called Genetics to let them know about the test results, in case they need to tack some other test on to the retest panel. All of the clinics run off the same system, but unless someone CC's them specifically, they won't look at any labs but the ones they ordered until her next appointment, so if I want labs to be condensed into as few sticks as possible, I should probably let them know.

I'm feeling...something...today. I'm in a little bit of a funk. It's not because KayTar's labs were abnormal, I mean seriously, they are ALWAYS abnormal. I'm not worried. Maybe it is because I still CARE that her labs are abnormal, that there is still a little part of me that is always hopeful that this will be the set of off-kilter labs that breaks the case, that someone will pay enough attention to connect the dots and figure this out. Doctors look at constellations of symptoms to make a diagnosis and by this point, we're looking at an effing GALAXY full of them. Four years worth of them. This Sunday is my birthday and all I want, still, after all of this time, is for someone to look up into that metaphorical sky and finally recognize what it is that they are looking at.