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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7 thoughts on “Add it to the list …

  1. That *does* seem high – wouldn’t it mean that one out of every 280*280 births had the same genetic defect? That would be 1 out of 78,400, meaning there’d be almost 90,000 bearing the defect from among the world’s 7 billion people…

    Single dad, I’m a reader (with a disabled child) who never posts comments. Every few weeks I check in on you and the other bloggers you link to–I think I came to you first from the “life with a severely disabled child” blog. From your links, I found the blog by Christopher’s mom Kelly, in “Unlock the Secret Voice”, and her story became important to me too. I just went to click over to see how she is doing, and the blog has vanished. Do you have any news?

  2. My head exploded sometime around the area where numbers and percentages were being discussed. Couldn’t process.

    The girl is super hot though, maybe that is what is distracting. So is the thing rare or not? She says low, you say high…what is it? How does it stack against other so-called rare conditions or disabilities? Is there a pie chart somewhere?


  3. For RV . Look in Florida RV dealers. I have seen from a small van to a Prevost coach . With lifts track systems roll in showers , med lockers ,

  4. Maybe you could start a fund raiser so if you hit a certain amount, we could see you in those shoes? I am only of course interested in finding ways to help raise $$ for the RV and the thought of a picture with you in those shoes has NOTHING to do with it ;)

    The inclusion on the test is so absolutely fantastic. It really does not matter high/low percentage, the potential to offer families advance information and possible therapies is so phenomenal it gives me goose bumps. The implications are astounding, the more diagnosed, the more researchers will become interested, the more pharmaceuticals may take notice, the more money for research so the pharmas can “develop” their market, the more advertising for the market, the more John/Jane Q public knows, the more testing there is. Rinse and repeat.

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