Add it to the list …

I still really, really, really need to get an RV modified for Pearlsky and me and friends. And my plans are actually coming together somewhat.

I did find this one …

Clotho says that if it comes with those shoes, go for it!

There is this woman I was supposed to marry (no, not the one in the picture above) (but, if she does come with the RV, and those shoes, …). Met her when I was two days old. Really. I think I messed up by taking her to the opening of the original Star Wars before finding out she hated SciFi (this was 18 years after we first met). Anyway … she is now a big shot genetics lab director at a big shot hospital / medical school (happens to be the hospital where I was born!) (and yes, she is a month older than me, which makes her older than older-than-dirt). She happened to have been asked a few months ago if she would add to a nation-wide (or more) used prenatal genetic screen test a test for the amino acid deficiency that Pearlsky and David have by the very anal and infinitely brilliant and wonderful researcher who found the error (the error was first located in the genome because of Pearlsky’s and my cells). Today she tells me the test has been added to an expanded genetic test panel! In their testing, they have found that the mutation frequency is ~1:280 in my particular expanded gene pool, very low by their standards, incredibly high by mine. Somewhat confusing in that the first mentions of the “disability” concern my children just under twenty years ago. One would think that if the rate of carriers in my community is one in two hundred eighty, more cases would be known. Maybe we only procreate with outsiders. Leads one to wonder about all the undiagnosed kids …

I was supposed to marry her seeing that we grew up together, etc., but alas, Luke Skywalker killed that idea. She is a nationally famous genetics researcher-lab-director … maybe she can afford the RV …

Or not. But maybe some families will now be that much more informed.

How cool is this?


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