Thursday, April 15, 2010

Results?

Normal. That's all I know for now, and they'll send more in the mail. I don't know what else they'll mail to me if the result is "normal." I'm irritated, but grateful not to be waiting to know that they know that they don't know. I had told myself not to get my hopes up, but at the same time I'm thinking, "Now what?"

Did Dominic and Bridget really die from the same genetic condition, as the doctors have suggested? If so, what is that genetic condition? We have done thorough genetic testing now. Both the whole genome microarray analysis, and now the whole mtDNA-genome sequence analysis. So if there was really a genetic problem, wouldn't we see something on these tests? Also, they have run other testing for specific genetic conditions. Why do you need to do all these individual tests if the whole genome tests can tell you where to start?

Part of the problem I am having is trying to learn all the complex details of genetics without ever going to medical school, let alone having any clinical experience with it all. But I do have some very real life experiences that make this such an important thing for me to understand. My kids have died, and I have more kids who have medical concerns. Why? What now?

Well, we have surgery in a week and a half. It's just a same day tonsil/adenoid-ectomy, but with the history and size and age, we'll stay overnight for observation. Maybe that will be enough and all these other odd quirks will go away. FTT will resolve...

It's just what it was before. Only now we can cross another test off the list, and expect another bill. For those of you considering testing, I don't know that this is meant to be advice. Just be aware that you can put a lot of hope and money into promises that aren't sure.

2 comments:

  1. Aaarrrggghhh! I've been checking your blog every day this week to see if you've gotten your results back and that's how I feel! I'm so sorry you've been through all this waiting and hoping and now are back to exactly where you were before the test just minus one more test and more money. Argh! Not that this means you regret it or wouldn't do it the same way if you could go back, it's just this is all so so tricky!!! Not a place anyone should have to be. I feel for you! I'm so sorry that there still aren't answers, it's like living in a fog... Love- Molly

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  2. Hi Marie...It is me Sophie.....I want to e-mail you but I don't know how to. Can you go to Zach's site http://www.caringbridge.org/visit/zacharyszilagyi and e-mail me or leave you e-mail on his guest book next time for me :) Thanks!!!!!!!

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