[tri-med] Re: denise!!!!!!!

r u in brisbane or where u just using the brisbane hospital i am in
caboolture email me back

----- Original Message ----- 
From: "Denise Harrold" <deniseharrold@xxxxxxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Thursday, October 02, 2003 1:15 PM
Subject: [tri-med] Karen Re: new member.



Karen

Thanks for all that info. Jessie did have a skin biopsy, taken by the
geneticist at RCH Brisbane, she was certain it was trisomy 8 mosaic because
of facial features and deep creases/furrows on hands and feet, long slim
trunc, short neck, arms always flexed at elbows, microcephaly, wide spaced
nipples, very narrow shoulders and hips.  Blood was taken for testing at the
hospital, I believe they were looking at DiGeorge and Velocardiofacial, she
does not have those two disorders.  Our paed is checking on what tests were
done so I should know next week.  We have blood being tested in Perth for
Retts syndrome.  And will also be testing for Angelman in a few months, she
has to replenish her blood supply as Perth needed 10mls, and she only weighs
7kg.

Jessie also has some "extra" symptoms which makes it very hard to decide
where we should be looking. Family history is unreliable so far.  I'll keep
reading the posts if no one minds, a lot of info here has been very helpful.


Denise and Jessie (almost 1yr)






















































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

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