[tri-med] Re: Partial Trisomy 1, Partial Monosomy 6

Hi All. 

 I am Karen , the grandma to Julian....the mosaic partial trisomy 1 
 little boy. If you have any questions at all, I would certainly be glad to 
answer if I can. 

 I know this was a long time ago posted but in December I had a grandaughter 
born with Pierre Robin so we were kind of busy with/over that. 
Again you can contact me if you'd like...I can't give you much medical info but 
I can inform you of his progress which has been fantastic.
Take Care
Karen Thorsten


 

> From: fawna33@xxxxxxxxxxxxxx
> To: tri-med@xxxxxxxxxxxxx
> Subject: [tri-med] Re: Partial Trisomy 1, Partial Monosomy 6
> Date: Tue, 27 Jan 2009 18:23:02 -0800
> 
> >I'm in San Bernardino, California. 
> 
> Welcome to the list almost neighbor!
> 
> I'm in the San Diego area, as are a few more on the list.
> However I'm the only other one of us in CA with a child with
> any kind of chromosome 6 involvement. My daughter is a partial
> trisomy 6p (de nova, so no translocation or deletion involved).
> 
> >Anyway, she lived longer than they thought she would, also.  So
> >I don't put much weight on prognoses anymore.  The doctors don't
> >know. 
> 
> No they sure don't! In fact, someone with a new 6p+ baby told me
> not so long ago, that she was handed the same ancient outdated
> 6p article from 60's that I was in '83. And therein lies much of
> the problem with doctor's opinions on our children. They're basing
> them on outdated literature!
> 
> 
> >Becky ate pretty well until she was about 18 months old.  Then she
> >cut her intake in half. 
> 
> Philina was a very poor eater when she was little, but we didn't go
> the g-tube route until she was 19 yrs old. And even then it was only
> because of numerous complications after an aortic valve transplant.
> Took me about a year to get her eating well by mouth again, and 3 yrs
> to regain all the weight she'd lost in the hospital. Lost the g-tube
> 2X's now compliments of respite camp oopses. And the last time, since
> we hadn't actually used it since it had been put back in from the last
> oops, we opted to leave it out. So of course now she's losing weight
> again, but it has nothing to do with her not eating. She's eating fine,
> but is now on a sugar restricted diet by doctor's orders, so seems to be
> burning every calorie + that she's taking in.
> 
> 
> >She talks some, and communicates very well.  She understands everything! 
> >She also had a great disposition.  She is very loving, and gives lots of
> >hugs and kisses.  She knows no strangers!  I wouldn't trade her for the
> >world!
> 
> You just described my Philina! (Though she can be quite the nag when she's
> a mind to, and most of her communication is through sign language.)
> 
> Oh and we've had a couple of mosaic trisomy 1's on the listserv. I think
> the grandma of one of them is probably still hanging around somewhere, but
> the other quit years ago when her child had a Wilm's tumor relapse. (And
> don't worry about that! According to Dr Carey, it's not the trisomy 1
> that's prone to those tumors, it's being mosaic for any # that puts a child
> at risk.)
> 
> Fawna, Research coordinator TRIS Project, mom to
> Thom & Rhonda, Lara & Brian, & Philina 26yrs(PT6p
> & Moya Moya Syndrome), Escondido, CA USA
> http://home.mindspring.com/~fawna33/
> 
> 
> Building ___ooOOoo__ Rainbows
> www.trisomyonline.org
> Families Helping Families On-line
> 

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