Monday, April 26, 2010

Not Sure What to Make of It

We got a copy of the report on the genetics testing. It uses so many terms I am unfamiliar with. It lists some things that are associated with that certain whatever it is, but then I am not sure if it is suggesting those are risks for her or if they are just merely interesting things being noted. For the cost of these tests, you'd think they would at least translate it to more common speak for us.

Now my imagination is left to try to guess what we are dealing with. I have two children who are so underweight that the print out from the doctor's office plotting growth on the chart lists them in the ZERO percentile-- not even close to being on the chart. But the doctor does point out that their height is also on the same non-curve. Both of their heads are quite large in comparison, one in the range of the seventieth percentile, and the other in the ninetieth percentile. They also both have micrognathia, medical speak for small and recessed jaw.

You might think, so what? Failure to thrive. It's not that big of a deal. As long as they're still growing (and they are), what will it hurt them? I try to think that they don't look like those pictures you see of children starving in places like Ethiopia or concentration camps. Then you start thinking about other things. Why the low carnitine? Blame that one on not eating well enough, right? Okay, maybe. And easy enough we just give the carnitine supplement everyday.
But why the high CSF protein? Why the low CSF glucose, but the blood glucose taken at the same time is normal? Why the higher than normal iron, with a low ferritin (that's the way to see how well your body stores iron) . I've asked two specialists and our pediatrician, and none of them can explain it. But the low ferratin could explain the repetitive twitching during sleep
that the sleep study documented. The same sleep study that documented de-sating and apnea. But not CNS apnea.

So we are taking our youngest to have surgery tomorrow at the hospital where our two kids died. And that last word of that last sentence is why all the little things that don't seem highly concerning begin to concern me more. Both of our kids that died had failure to thrive. The few blood tests they had before their crisis events were relatively normal. There was nothing there that raised real concern with the doctors. But something was wrong enough that they stopped breathing and their hearts stopped without any warning it was coming. So why can't the doctors explain why? How is it that we can have so many tests and know so much but not be able to figure out how children can "look fine" but not be fine?

Well, all of it just leaves me quite unsettled. I go back and forth wondering if it is even necessary to go in for the surgery. What if there is something underlying-- a very real likelihood, which is why we keep trying these expensive tests to figure it out-- and since we don't know what it is, somehow the anesthesia or other medications don't work the way they think they are supposed to work? What if her body can't tolerate the stress of even a common, routine surgery? Why
should we put her, and selfishly-- me, through the stress of the hospital? A mom even without all the experiences we've had would naturally be worried. But I am just very much wanting to avoid this.

In subtle and not subtle ways I see reasons to be concerned. Tests come back that get the doctors both relieved and, if not concerned, at the very least curious. They tell us it is like taking several
different boxes full of puzzle pieces and Mixing all the pieces together, scattering some of the pieces around making them difficult to even find and having no idea what the picture each puzzle is supposed to make even looks like. But there is no current crisis, and then everyone wonders how much effort should we put into a puzzle that may not even be anything of significance in the end. I know they're doing their best, but I just start to think maybe they aren't. Maybe because there are so many kids who they are caring for who go to them
with their puzzle pieces all nicely inside the box with a clear image fixed on top that these doctors have their time and focus where their skills can be better utilized. The pictures on those boxes are clearly alarming. And then what if the next crisis comes because everyone gave up trying to figure out what the underlying problem is?

But again, my kids "look fine." (as long as they aren't mottled because they are out when the temperature dips into the low sixties or climbs into the mid seventies. Oh, and with the "heat" they become so weak and lethargic and suddenly not feeling well until you get them back into the air conditioned-climate-controlled-house. This is just one exception to how my normal-looking kids don't have normal lives). But that doesn't comfort a mom who had two other kids who"looked fine" and then suddenly didn't look okay anymore. My kids mostly act fine, even though the pH probe shows continuous and constant refluxing into the high part of the throat. Swallow studies show penetration with every swallow, but at least there is no aspiration. They mostly act fine (if fine is not running around and keeping up with other kids their age because they are too weak, tired, or exhausted and over-heat so easily, again just one of may examples of how my noraml-acting kids don't really act normal), so why should we worry?

I don't know what to make of it all. Am I crazy and just exaggerating every little thing that really is just normal with other kids? If I didn't have to live with the reality, knowing that when I tried to convince myself with my kids who died that I was just being paranoid about all their little "quirks" and " episodes" they would have, that I was really just being blind - I could probably more easily comfort myself with that.

So I go in circles. Not sure what to make of it. It's a challenge I see when I read of other families who are trying to put their pieces together. The box doesn't tell us if it's mito or something else. We just have to pick up the pieces every day, and keep hoping at some point it will make sense.

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