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Monday, April 8, 2013

Genetics non-update

(The short version of this blog post is that we had a follow-up with the geneticist today and it was, as I had suspected, pretty much pointless. Nothing new was figured out, there are no more tests we can order (except one really invasive one that we agree is probably not necessary) and honestly, I don't know if we'll bother to go back in a year or not. So that's the short version. Now you don't need to read the long version unless you reeeeeeeeally want to. Oh, and her thyroid & dysautonomia labs were normal. big friggin surprise there.)

Genetics is another one of those specialties that I had high hopes for when we had our first consult but I'm kind of over it now. Our neuro ordered a bunch of genetic labs the first time we ever saw her, back when Raya was about 4 months old. Most things were normal and a few things were a bit off, but never enough to give us any helpful information. Many times over, labs have been done with similar results. Everything is always either normal or not far enough from normal that it helps add any pieces to the puzzle.

Then we had the microarray done the second time and came up with a duplication at 18p11.31 (which the geneticist said like this: 18p-one-one-point-three-one, just in case anyone else was wondering how you're supposed to say those genetic things). All that means is that she has some extra genetic material on her18th chromosome. Aaaaaaand what does that mean?? That's why we went back to see the geneticist last January. At that point in time, he said that there was no way he could tell if the duplication was of any significance without Donny and I having the microarray done as well. He said he'd have his staff check into whether or not our insurance would cover the testing. 9 months later when I still hadn't heard from them and it was time to schedule our next appointment with him, I called. That was when they told me that they don't have time for that sort of thing and if I wanted it done, I'd have to do it myself. (load of crap. insurance verification is part of the job. maybe if they'd told me that up front, it would have been different. *deep breath*) That was a week or two after we had moved, and I was up to my neck in unpacking, doing preschool transition stuff and prescription/pharmacy drama, so I didn't have time for it either and the testing never got done.

Today was our "1 year" follow-up, which was really a 15 month follow-up. It was kind of a circus. First, the lady at the self check-in kiosk sent me to the waiting area. We didn't have to wait very long in the waiting area, which was nice. I felt really self-conscious because Raya woke up completely without a voice this morning and was having a hard time clearing all the overnight gunk out of her throat so she kept coughing. The air quality is HORRIBLE today. It's not a junky, nasty cough at all but when you're in a hospital and your kid coughs, you get death glares no matter why they're coughing. I had her in the stroller with a blanket over it most of the time.

We did vitals and this time, fully clothed, she weighed  exactly the same as she did 2 weeks ago which means she's probably lost a couple more ounces. Her blood pressure was 73/35, which is definitely on the low end, at least for the diastolic pressure. Not that that's really important, it's just on the paper I'm looking at. :) Her weight was 14.3kg, which is 31.5 pounds (meaning 31lbs, 8 oz). It's still a good enough weight, but 2 1/2 months with no gain isn't a good trend. Digressing...

After all of that, we went into a room to wait for the doctor. One of the genetic counselors came in first to ask me a few questions. I knew fairly early on in that conversation that nothing productive was really going to come of it. She asked me why we were there or what concerns I had, and I told her that I wasn't sure how much we'd be able to accomplish since the parent testing had never been done. She probably didn't appreciate very much the way I explained the story to her because it turned out SHE was the one that told me they didn't have the time for verifying insurance for parent testing and I'd have to do it myself. She had also told me in that phone conversation 6 months ago that if we'd had the testing done at a different lab, the parent testing would have been free but of course nobody bothered to tell me that at the time either. *ugh* So props to her for being nice back to me when I told her that the dr's office staff had told me I'd have to do that part myself because she could have easily gotten defensive but she didn't. She asked me a bunch of questions about recent medical history and neuro stuff and took down some notes for the doctor, and then left. Let the boredom commence.
Playing on the dirty floor under the stroller... (anyone who wants to judge me for letting her play on the floor is welcome to accompany us to our next appointment and try to keep her from doing it.)
She didn't bring any toys with her but her "dancing hands" were all the toys she needed. They used the brake on the stroller as a platform to jump up and swing on the straps on the back of the stroller like a trapeze.
She was getting filthy but it was still better than having her hands climb on the garbage can with the big hazmat symbol on it. By that point, her throat had cleared a bit and she had a little bit of a voice. Just enough for it to be scratchy and make her sound like the super creepy kid from The Shining. red rum.... She was really impatient by that point and so was I. We had gotten there 20 minutes early because it's a good distance away and we never know what traffic will be like heading into Phoenix so I always leave really early. Our appointment was at 9:30 and by 10:30, we were both pretty sick of waiting.
My only entertainment was listening to her try to sing with her scratchy little voice. My favorite part was when I told her (again) to leave the garbage can alone and she growl-whispered, "I'M MAD A YOUUUUUU!" over and over again. She didn't appreciate me laughing but it was funny.

FINALLY the doctor came in. I shouldn't complain, we've had to wait a lot longer at other doctors' offices before, but it's still a bummer when you schedule a 9:30 appointment and end up waiting THAT long. Good thing I like him.

We went over the things I had talked to the genetic counselor about. There was some confusion and a LOT of missing information from her chart because the last time we saw him, it was at a different clinic. That's another whole story in & of itself, but bottom line was he didn't have the information from our last visit. I don't know if it would have changed anything but it would have been nice for him to at least see what HE wrote down about it rather than relying on the limited information I had from that visit. We talked about the whole parental microarray thing and what he said was good but irritating at the same time. He said that there are 4 genes that she has duplicate copies of, and that they've looked into those 4 genes and there are no syndromes or anything like that associated with any of those genes. In other words, it's very unlikely that her duplication has anything to do with her medical & developmental issues. On one hand, I'm glad to hear that because now I don't feel pressure to get the parental testing done but I'm also irritated that when he talked about it 15 months ago, he DID seem like it was something that he really wanted us to have done. That added a lot of stress & grief knowing that the testing he had wanted done was not getting done. Now we're off the hook for it since it probably won't help anyway, so I wish he would have just said that to begin with & saved me from stressing over it.

He asked a bunch of questions about her recent GI complications (i.e. reflux + delayed gastric emptying) and kept using the phrase, "...but it seems like something she'll grow out of." Thankfully I had my patience pants on today because normally that phrase is like nails on a chalkboard to me. I told him we had started to feel like she WAS moving past a lot of it early in the fall and then all hell broke loose when we moved. She may eventually move past all of the GI issues, but she's not going to just "grow out of it". Some of us have to bust our butts off to get her to "grow out of it". (pet peeve, can you tell?)

We also talked about mitochondrial testing. She's had several different labs run for that, and those were the ones that were a little off but not far enough to warrant further testing. He mentioned muscle biopsy today but we both agree that it's not necessary at this point. Several times, he asked me things like, "So she's carrying a CP diagnosis? Is she still carrying that diagnosis? Really? What type? Really? Hmmm..." YES. I get it. She doesn't LOOK like a kid with CP, nor would she ever be given that diagnosis NOW. I told him that if he had seen her during the time frame that her initial diagnosis was made, he wouldn't be questioning it. He did test some reflexes (which were normal) and the tone in some of her joints (some of which were stiffer than they should be, thank you very much) and the explanation that I gave him seemed to be enough for him. I'm sure she's not the only kid he's ever seen that doesn't present like a "typical" CP-diagnosed kid, but it sure does get old having to defend that diagnosis.

So this is what the appointment boiled down to. She does have a lot of unfortunate GI issues going on, but he doesn't feel like genetics can help figure any of that out. She does get sick & stay sick more often than I would like her to but not enough to warrant immune testing. She has mild tone issues, but has made great progress with that in the last couple years. She has a duplication, but it probably doesn't mean anything. She's had some abnormal labs, but they probably don't mean anything either. (are we noticing a pattern here??) He thinks she'll probably "grow out of it". To which I replied, "Whatever 'it' is, right?" He said we could pursue the parental testing if we wanted to and that we can follow up in a year just to see where things are at. If I remember to schedule that appointment in a few months, then I'll schedule it but that doesn't necessarily mean that we'll go. I think we've gotten as far as we can with genetics at this point.

There was one fun little thing that happened at the appointment. When the doctor opened the door & walked in, a cute, young doctor came in behind him and I recognized her right away. She had been one of the residents during Raya's very first hospital stay. I liked her, even when she said she was going to ask the GI on call if we could take out the NG tube before we went home, which gave me major anxiety. :) Here they are in January 2010:
I suppose I should have taken a picture today too but I didn't. Anyway, it was fun to see a familiar face.

1 comment:

  1. Speaking from the standpoint of a parent with an immunodeficient kid and also a second kid about to get tested for it, I say it is one easy test. They'd just test her IgG level including sublevels. It's like a day or two turn around, too, for results. I can't tell you how much Ilse improved sickness wise when we got her on a daily antibiotic. It was night and day difference! It'd be easy to have them throw in that test next time you need to get labs done, because if you could cut out the gigantic sicknesses she gets, her life and yours would be so much easier. Mine sure is now that Ilse is doing better. <3

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