[tri-med] Re: Seeking Help

Hi, Michelle:

Thanks for the welcome!

You are right, the diagnosis really doesn't matter - an 18 is an 18 and they
are all unique.  As for presenting as mosaic and being "full", our
geneticist says that her blood test showed she is "full", but she is too
high functioning not to be mosaic.  She presents as mosaic.  He said that
"there have to be some normal cells in there somewhere."  Our neurologist
totally agrees.  Our pedi says it doesn't matter what her blood result is,
the bottom line is that Rachel
is higher functioning than some 18's who test as mosaic and that's all that
matters.  We have considered having more refined blood testing done, but it
won't change anything.  Rachel is still an 18 and still fragile.  I
understand you point completely.

At first, our geneticist was very skeptical about our hope, as he was going
strictly by statistics.  BUT, since he has gotten to know us - and Rachel -
over the past 33 months, he has changed his tune completely.  When I took
Rachel for her six month visit, she smiled at him and he told us that Rachel
is the only T-18 who has ever smiled at him.  At our one year visit, he told
me that he now carries Rachel's picture with him and uses her as a teaching
example to his residents at Children's Hospital Medical Center to teach them
that "a catastrophic diagnosis doesn't necessarily mean
a catastrophic outcome."  He is so intrigued by Rachel and her progress that
he is now totally with us.  We have even included him on our email update
list (full of pictures and Rachel's current events) so he can track Rachel's
progress like all of our family and friends every month or so.  He has
become very fond of Rachel and we are thrilled that Rachel has touched his
life in such a way.  It gives her life great meaning when we think of all
the new doctors who are being taught to be cautious about following
statistics too closely when a serious diagnosis is at hand.

Best regards-

Aimee in Cincinnati, Ohio (USA)
(wife of Bob; mother to Rachel 2-1/2  (T-18), Jillian 1-1/2 (our China baby)
and Ian 6 months)

----- Original Message ----- 
From: "jwaite" <jwaite@xxxxxxxxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Saturday, January 24, 2004 4:40 PM
Subject: [tri-med] Re: Seeking Help


>
> ----- Original Message ----- 
> From: "Meierlaw" <meierlaw@xxxxxxxxxxxx>
> > My name is Aimee and I am new to the list.  My beautiful Trisomy 18
> daughter, Rachel, is 33 months old.  Rachel is a "full" T-18, but she
> presents as mosaic and is considered "mild and high functioning";
> nevertheless, she is still significantly delayed in her >development.
>
> Hi and welcome Aimee!
>
> Cracks me up-- "presented as mosaic". The drs just can't stand it when a
> full trisomy is doing well and tries to down play it as something it's
not.
> There are some fulls doing better than mosaics (including living longer
and
> developing further). There is no "better" trisomy--full vs mosaic that's a
> guarantee of any better outcome. Yes, it does work out that way sometimes
> but others........not.
>
> Sorry but I don't have an experience on the gagging issue. Just wanted to
> say howdy!
>
>
> Michelle mom to Alex (16, partial trisomy 14 mosaic) and Molly (13)
> MichiganUSA
>
>
>                   Building ___ooOOoo__ Rainbows
>                        www.trisomyonline.org
>                   Families Helping Families On-line
>
>

                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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