OK all you who know me know I am VERY Type A. VERY. Brian and my girls certainly know. I really work hard at not being overbearing and controlling - but it is hard.
So...being the type A person that I am I want to know everything...NOW...
So imagine waiting "patiently" for Salem's blood work results...chromosome analysis, karotyping, blooding clotting tests and PTPN11 gene test. They came AFTER our appt with the geneticist on Tuesday. I went to get a copy today. I've started keeping a copy of her medical file at home. It makes it easy getting things to three different specialists (possibly 4).
I don't even get to the car before I start reading...
This GTG banded analysis shows a normal cell line and an abnormal cell line containing a supernumerary dot like marker chromosome of unknown origin. The marker was C band positive indicating it is composed at least partially of inactive heterochromalin; the presence of actively coding euchromatin cannot be excluded by cytogenetic analysis.,
Parental chromosome analysis is recommended to determine if the marker is familial or de novo. If familial, array CGH with a heavy concentration of SAC clones is the pericantromaric regions should be considered. Familial cases have been reported in which a parent carried a marker derived from a pericentromeric region; it has been excised from a chromosome and hence the parent was balanced. The child received the parent's normal chromosome and the marker and thus has the unbalanced karotype.
UM WHAT? Seriously - I am one of those obnoxious people that know a little about a lot of things. Sadly enough - genetics is not one of those things. I have no clue.
What I do know is that NS is caused by a mutation in a gene - different than a Chromosome (but I don't know how to explain that. So now to have this worry that there is an unbalanced karotype - ACK. Seriously...
So I call the geneticist. She's out to lunch. I call Sarah her assistant - she's out of town. More thank likely I won't reach them for at least at week. Our ped doesn't understand the results either.
So Monday before I leave to go camping with LaRae, A'Lisa, Deanna and the kids I am sure I will be burning up the phone lines trying to figure this out so I don't go mad.
I know the bible says cast all your cares on him - that includes your kids. But ohmygosh it's hard. I want to know NOW.
NOW.
UGH!
13 years ago
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5 comments:
Did you find anything else out? Were you able to get ahold of anyone?
I'm so sorry you have this worry. You are right though. We have to give it up to God.
HUGS!
Well through massive research and a lot of trial and error and hoping I am not wrong I think it's where her developmental delay as a baby and her speech delay comes from. I hope I am right. That is "simple" enough. Some of the ones I saw were AWFUL.
It came down to researching her cytogenetic result: 47,XX,+mar[16]46,XX[4] LOL that's almost more confusing!
I found a pamphlet on some of it, here's the link :
http://www.med.uni-jena.de/fish/sSMC/Small%20supernumerary%20marker%20chromosomes%20(sSMC)%20FTNP.pdf
Please, tell us what it means as soon as you find out!!!!
Thanks Kimmie I'll check that out.
Dorothy I'll update as soon as I know.
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