Wednesday, November 10, 2010

Nuclear DNA Testing

Today we received a kit for sending in a sample to be used for a Nuclear DNA test that specifically is looking for gene defects that would result in mitochondrial disease. I've been in contact with our insurance, the geneticist/metabolic specialist that is following our family, and a rep for the company that does the test.

Outside of the cost, I'm contemplating many things about the testing. Is this going to set me up for more disappointment that we still are no closer to knowing what caused two of my children to die, and other children to have concerning symptoms? Will there be consequences for future health coverage if the test does have findings that identify specific gene defects? If we do get answers, is the condition treatable or curable? If we don't get answers, is it because we're asking the wrong questions? And if so, what questions are we supposed to ask?

My youngest has been doing remarkably well lately. But there are some things still persisting that worry me, and some new things, too. And our youngest son also has some things that still really make me hope to find an answer soon. There are other things going on with the kids that I wish I could know if they were related to some underlying thing, or just stand-alone problems. My own health seems to be declining (although I still consider myself in good health, with no major systems having too much trouble).

I go through lists of things to try and determine which direction to go: 1) There is something severe enough in our family to have caused two children to die, 2) there are a myriad of symptoms in the family that are consistent with mitochondrial disease, 3) testing we have done so far is inconclusive and does not give a clear diagnosis of mitochondrial disease, but at the same time does not rule it out, 4) and testing has not shed any light as to another direction for a diagnosis outside of mitochondrial disease, other than those things that have already been tested for and ruled out (cystic fibrosis, as one example.)

But I am reluctant. Why? I think cost is a big issue. I know that we are trying to work it out for insurance to cover most of the costs, and the company that created the test will work to absorb whatever remains. But we have been told that before but then been left with the hassle of bills we weren't expecting. Yet, I think about how when Dominic and Bridget were in the PICU and how I would start to worry about cost, and then I would think how I would pay anything to keep them alive. How much is it worth to know - even to have the chance to know?

I think my biggest reluctance is that I've hoped so many times for an answer. I think part of me is afraid of knowing that there is a problem. I would be facing a reality of something with a name. But, really, I think I'm more afraid of finding that of all the known answers there could be, none of them are our answer. It means I would still be facing the reality of whatever the problem is that took the lives of two of my children, and affects our other children in the variety of ways. But. We would still not have a name. And we would have exhausted all the ways we have to find a name. And that to me would feel like I've lost hope. I've felt it when I held the results of the last test result in my hands, looking over it again and again hoping somehow I could read something from it that would be the one thing they hadn't noticed that would reveal the answer to us.

So I have a kit here ready for us to use to send a sample in. And I'll wait to see what more comes from our discussions with the insurance, the specialists, and the rep from the company who does the test. And I'll hope. But I'll hope I don't hope too much.