judifilksign: (Default)
judifilksign ([personal profile] judifilksign) wrote2009-09-29 03:47 pm
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A long time in a meeting that said not a lot.

The geneticists said that Sparkle's deletion was small, and they don't know how significant it is to her autism.  There isn't anything in the literature or publications about anyone else with this specific deletion.  Hey, will we be part of their study?

They found us pleasantly well-informed, thought we asked good questions (thanks, [livejournal.com profile] jenrose!) and weren't phased by Sparkle's bouncing off the wall behaviours.  Sparkle had to have more blood samples taken, because they hadn't tested for fragile X syndrome, and they wanted to be certain she didn't have that before proceeding further.  The nurse there smiled at me and my death grip on my protesting child, although Sparkle didn't cry.  All her fussing was for us to let her *go*, nothing about the needle.

The upshot is that there is no known other syndrome attached to this deletion, we're pretty much the first family they've noticed with this particular one, and it might not even be significant, because in the population of people all over the world, lots of people have random deletions that may or may not affect them.  Keep up the therapies for the autism, looks like we're doing a good job.  Unless the fragile X comes up, they don't need to see us back.  No current researchers researching this branch of the chromosomal tree, no other families with it, and no syndrome associated with it.  Well, at least we'll be a blip on the data they're collecting, and if the same thing shows up in other families, then maybe they'll have something.  And we can be a support for the next folks.

My darling husband and I, agreeing to participate in their study, needed to have blood samples, too, so we dropped Sparkle back off at school, and went to a Children's Hospital lab and got it done today.  My poor husband kept holding his breath and his fists, and was unhappy psychologically, but said he was physically fine.  When my turn came, I have to say I have never, ever had such an easy blood draw.  I never felt the needle go in, she got the vein on the first try without any wiggle games, and the vein stayed open for all of the vials.  She totally rocked.

My husband had two friends who work at Children's, so we stopped by to see them, for like, two minutes.  I was stunned at how satisfied all the male geeks in the very short conversations were with such short interactions.  It took longer to wend our way through the halls than the visit itself took!  This must be one of those Y chromosome things.
 
jenrose: (Default)

[personal profile] jenrose 2009-09-29 08:25 pm (UTC)(link)
Oh, and that pamphlet is in double-sided booklet order, so watch the page numbers at the corners of the pages or it becomes a VERY confusing read.

PLEASE contact prisca@rarechromo.org and see if she can hook you up with other families. Join UNIQUE (rarechromo.org) and my bet is you will hear from other families within a few months if not sooner.

Only case.... Meh.

[identity profile] judifilksign.livejournal.com 2009-09-29 08:48 pm (UTC)(link)
I'm thinking that this geneticist is looking primarily for causitive agents for autism specifically. Sparkle's deletion, being so small, is in her words unlikely to be a sole reason for her autism, and it is much more likely that a number of reasons/genes are the cause. Certainly we're the first in *her* database with this deletion and this study.

My husband comments that the geneticist said that Sparkle's deltion was a small one within the 9p23, so the researcher might actually have what segment within the gene narrowed down even more specifically, and not have matches for that piece.

Sparkle does not have many of the hallmarks of a lot of the things expressed on 9p, although she does certainly have some.

But yeah, I'll be contacting this UNIQUE group in the UK. More support than "boy aren't you all doing such a great job with her" is always good.
jenrose: (Anatomically impossible)

[personal profile] jenrose 2009-09-29 08:50 pm (UTC)(link)
Bet you a nickel that the pamphlet resonates at some level with your experience.

[identity profile] judifilksign.livejournal.com 2009-09-30 12:45 am (UTC)(link)
*laughs*

If I gave you a nickel for each point with which the pamphlet resonates, you'd have a tidy chunk o' change there!
jenrose: (Anatomically impossible)

[personal profile] jenrose 2009-09-30 02:48 pm (UTC)(link)
No syndrome, my ass.

Brainy doctors do everything in the journals they get in paper, and can't be bothered to GOOGLE.

Dingbats.

They were probably searching for her exact deletion. I just plugged in 9q23 chromosome and *BAM*.

jenrose: (humancontact)

[personal profile] jenrose 2009-09-29 08:49 pm (UTC)(link)

[identity profile] fuzzyvanman.livejournal.com 2009-09-29 08:42 pm (UTC)(link)
I was an adult before a doctor game me this really sound bit of advice regarding needles:

If you relax your muscles, it's like I'm sticking this needle into a ball of yarn.

If you tighten up, it's like I'm sticking this needle into a baseball.

For me, that just made sense. Needles have been much less painful since...

[identity profile] johno.livejournal.com 2009-09-29 10:47 pm (UTC)(link)
I'm the guy in basic training who didn't get set of shot scars from the high pressure vaccination guns (in the 80s the military was still using them.)

I walked up, relaxed my arm, kept it relaxed while I got hit with 4 in a row. Meanwhile some of the other guys were so tense and jumped, that they got cuts.

[identity profile] judifilksign.livejournal.com 2009-09-30 12:47 am (UTC)(link)
Don't they still use them in Africa, when they vaccinate in remote areas where sterilization and disposal of needles is a problem?

I didn't realize that they scarred. Why did we stop using them?
ext_12246: (Dr.Whomster)

[identity profile] thnidu.livejournal.com 2009-09-30 01:11 am (UTC)(link)
Would you mind telling me what the deletion is, if you know more precisely than 9p23? I doubt I can contribute any useful info, but I was the research administrator of this project, and there's just an off chance I might be able to find something helpful.
jenrose: (Anatomically impossible)

[personal profile] jenrose 2009-09-30 02:49 pm (UTC)(link)
If you want more to look for, try 4q21.1-21.3. Assume everything that is easily googleable I've read already. I've also read but mostly not understood OMIM.