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

>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not so long ago, that she was handed the same ancient outdated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them on outdated literature!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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