Monday, June 13, 2011

How Many Roads

The blood gas that we did was absolutely normal. I love that the doctor calls directly. It's nice there are still doctors, a specialist even, who takes time to talk to the family directly, and not only when it's bad news. An absolutely normal test result, and she took the time to call to let us know! She hasn't gotten the holter monitor results (we were too late on Saturday getting to UPS, so it just got shipped back this morning), and she'll keep watching for that and let us know.

I am actually happy this time for a normal result. I think sometimes I wish for abnormal results because it will help us better know what the problem is. But this test wouldn't really tell us what was causing a problem, just that there was a problem. So it's good that we don't have this as a problem.

I read the news about Edison Pharmaceuticals EPI-743 getting Orphan Drug Designation, which expands access to this medication which has shown promising results to kids with Leigh's disease. Leigh's or Leigh-like disease is what Bridget's autopsy shows as a diagnosis. We have not done enough genetic testing to know if the known disease causing genes are in our family. But this study has me wondering if we should do more genetic testing.

Dominic and Bridget had sudden crisis events after weeks of seemingly mild symptoms. Apparently, this is not an uncommon presentation for Leigh's. The other kids we're most worried about have very similar symptoms to what Bridget and Dominic had. I mostly find reassurance when we look at other blogs about kids with mitochondrial disease because our kids aren't that sick. But as soon as I think about how not that sick Dominic and Bridget were, I don't feel so reassured. I try to reassure myself because Dominic and Bridget were infants when they died, and our youngest is now 3 years old.

I can't say how many roads I've been down trying to find the answers for our family. It's been about a decade now without really any progress. I read things like this then go searching through the gene testing we have done to see if I can understand it and if it relates at all to our family's results. I don't even know what fulminant means, and I will probably go look it up to find out, but may not remember next week when I read another study with the word. I used to be able to keep all the medical terminology in my mind and recall it, but with so many years and so much reading it all just blurs together now.

I am going to try to learn more about Leigh's disease. I am told perhaps even my older children are susceptible to a sudden event like Dominic and Bridget had, even though their symptoms are not as severe as kids with mito on so many of the blogs I read, and even though my kids are getting older now. I just want to see if there's enough going on to really look at the genes that the EPI-743 study recognizes as causing Leigh's so that if those genes are in my family, we can have the best chance at keeping everyone as healthy as possible.

But really, normal results just are the best kind. I will be very grateful if we can get to the end of all the questions and end up with an answer that explains Dominic and Bridget's deaths while removing concern that we're more susceptible because of genetics. I don't want to lose any more children, or maybe grandchildren. It's very painful to bury children. I am still struggling very much with this heartbreak. Tonight, I am grateful for normal.


  1. You are exactly right! Sometimes it is a relief to get normal results...other times, when you know something isn't right, they can be so frustrating.

    Yesterday we saw a mito specialist for the first time and she thinks KayTar defnitely has a metabolic disorder and there is a good chance it could be mito, so we're going through more testing. She said it is important to figure it out now, when KayTar is doing well, because you never know when that can change. I'm SO thankful KayTar is doing well, but I don't want to wait for a crisis to get to the bottom of things. So we just keep searching, hoping to figure it out one day.

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