you have to scroll down one more post to read it.
It's funny. You'll like it.
OK, now for my news!
*drum roll*
After five long years, we have confirmed
Aspie Boy's genetic abnormality!
*flying confetti, blowing noise makers, floating balloons, shouts of glee*
Wait, wait! There's more! This is the best part!
*more drum rolling, low, rumbling kettle drums this time*
*sounds of crickets chirping*
Yep. that's right. 14 duplicated genes on the tip of chromosome 19. We don't know the clinical significance of it because there is no research or data to demonstrate a link to the duplications and any identifiable syndrome. We can't even say if this is what caused his spectral disorder! Isn't that so cool?! My son is officially an unquantifiable research subject!
SO COOL!
So, I gave the geneticist carte blanche. If the lab that did the test turns up similar results with other patients, there might be interest for further study, review and research. Right now, not even the human genome results can signify the value of the 14 genes in question. As it stands, all that is known about these replicated genes is what we phenotypically observe in MY son![1]
It's official, when it comes to Aspie Boy, I know exactly what the doctors know. Maybe a little more because I live with him. That just makes me giddy.
Treatment plan is as follows: continue with current physician care. Report any new developments in his disorders and delays. Visit the geneticist annually, ad infinitum.
I always knew Aspie Boy was special. Now I have proof. He has 14 more genes than all the other sons walking the planet.
I'm so proud!
*enter big fat tongue hanging out of my mouth making annoying and sloppy raspberry sounds*
[1]I smell a PBS documentary ... LOL
6 comments:
It is so nice when our special kids can contribute something to society, even if they do not contribute knowingly.
Knowledge is always good- even when not very helpful! Congratulations!
Hum, yeah, he's only like millions of others who have a weird genetic abnormality that doesn't make sense to anyone... :-( I swear geneticists are not about to be without jobs any time soon! I hope that at least you get some sort of closure from knowing! :-)
How cool for a science geek! I'm a geek in something, haven't figured it out yet-I wish science wasn't so hard me.
WOW! Proof. If we could all have that to prove it to them. LOL
You totally crack me up! No one else I know could turn a genteic abnormality into a winning lottery ticket - well, except maybe Corey Waters or Christine Moers!
Post a Comment