Guest guest Posted August 31, 2004 Report Share Posted August 31, 2004 Something just dawned on me....but its not about , or MDS...but it is about Mosaicism...and who better to ask... My daughter, Jaeda, is 8 yrs old. Since I've been out of school this semester, I've had more time to sit with the kids and help with homework. I've become worried about Jaeda~ we can go over the same concept 10 times in 10 ways, and I'll think she's getting it, but the next day here comes the same type of homework, and we're back to square one. Her SAT scores from last year came back as all " below basic " level. Half dozen other examples of why I'm concerned... I just kept asking myself " why isnt she learning??? " I don't mean to sound terribly cocky...but I have a higher than average IQ... my 12 yr old son has a higher than average IQ... my 9 yr old son has never been tested, but I always get told how he reads at the highest level in his class, etc... I always assumed my only daughter would be just like me as far as that goes...but lately I've been finding myself getting frustrated, and actually thinking how working with her is very much like working with . Oh my gosh... have I overlooked something SOOOO major?!?!?!?!?!?! I had an amniocentisis when I was pregnant with Jaeda. It came back that she had a MOSAIC chromosome deletion. 1/3 of the cells (SKIN!!) showed a deletion of the petite leg of the 20th chromosome. We were watched closely the entire pregnancy, but they weren't seeing what one normally sees with 20p- (but there were NOOOOO recorded mosaic cases to compare with) which is skeletal deformity, fused bones, etc. I had her blood tested from her umbilical cord at birth, and it came back NEGATIVE. All these years I've said the amnio was a total screw up... What if it wasn't??? we know things about mosaicism now we never knew then... especially that it can be a different ratio in different organs. How many of you can attest to that... normal blood work, but the MDS was detected in the SKIN!!! Should I contact the geneticist? Should I have her get a cheek scraping?? It makes me so sad to realize this... I know all this about mosaicism....but I NEVER connected it to my daughters situation... Please...tell me your thoughts! ~ANGEL~ Mom to 11 Mosaic Down Syndrome/Hirschsprung's Disease Lance 16, Tyler 12, 9 Jaeda 8 & Shayne 2 Quote Link to comment Share on other sites More sharing options...
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