Appropriately, I am at the point in the book where the geneticists have found the G-8 Marker and are now able to test pre-symptomatic individuals who have a 50% chance of developing the fatal Huntington’s Disease. With no cure or therapy in sight, why would anyone want to know? The O’Brien family, 7 At-Risk siblings, is like a microcosm of how at-risk individuals across the world answered this question. Some said yes right away because the uncertainty was eating them alive; others were cognizant of the fact that once the information was known you could never again live in denial; and others wanted to believe in hope and the power of prayer. When I started writing Mike’s story I was sure what I would do if I were placed in the same predicament: I would want to know, absolutely, because I would make different plans for my life based on the information. But as Nancy Wexler, 
individual herself, has so wisely counseled, “why don’t you just choose to live your life that way, regard
less?”
Monday, October 13, 2008
Test Results
Today is the day I should receive my test results. Results which will not affect my health and wellbeing or even my financial future in any significant way and yet my stomach is in knots. For 3 months I have been able to live in denial and now, slowly, that protective defense is disintegrating, at the same time I am rereading Alice Wexler’s “Mapping Fate- A Memoir of Family, Risk, and Genetic Research.”
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1 comment:
Denial is not just a river in Egypt.
When I went to the Shwachman-Diamond Syndrome conference in Chicago in the spring of 2004, I learned that the statistics showed that SDS patients were pretty much 100% likely to develop leukemia by age 40. But I didn't really worry about Melanie's health. How could I - the alternative was to panic.. and then what. So I stuck to the cold science of it.
The sample was tiny, they only had a hand full of patients they were tracking. The data was no where near being a sufficient sample to get any sort of statistically significant result out of. Then there was the "Well, Melanie has a very mild case of the symptoms that come with SDS, so she'd be outside of that sample group anyway." line of thinking.
At the same conference, there was discussion of genetic testing. While they had identified the gene,they still did not have a test for it. I was thinking I really wanted a test. Melanie, having SDS, was a carrier. If I was a carrier, our kids would have the disease. I'd not want to have kids knowing they were going to have that illness... so it started affecting my family planning train of thought.
In the end, it didn't mater... Melanie did not escape being 'in the sample'.
Still, I'd want to know.
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