![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
judifilksignThe 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]](https://www.dreamwidth.org/img/external/lj-userinfo.gif)
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.
They found us pleasantly well-informed, thought we asked good questions (thanks,
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.
no subject
Date: 2009-09-29 08:25 pm (UTC)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.
no subject
Date: 2009-09-29 08:48 pm (UTC)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.
no subject
Date: 2009-09-29 08:50 pm (UTC)no subject
Date: 2009-09-30 12:45 am (UTC)If I gave you a nickel for each point with which the pamphlet resonates, you'd have a tidy chunk o' change there!
no subject
Date: 2009-09-30 02:48 pm (UTC)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*.
no subject
Date: 2009-09-29 08:49 pm (UTC)