Posted by Laurie on 3/4/2008, 12:30 pm, in reply to "Re: Bad day... just blabbing!"
68.42.17.172
No one ever told me that the Stickler blood test is only 60% accurate. In fact, I have 2 1/2 twin boys (no PRS) who were just tested and i was told (just yesterday, in fact) that both of their results came back normal. I was relieved...maybe I shouldn't be?
The Genetics department at CHOP is the only dept I am less than happy with - they don't tell you much and then they seem to disappear. I had to call 3 different times regarding my twins (nobody ever called me back) and when I finally got someone to talk to me, she was like :Oh, i have the results right here..." Well why in the heck didn't you call me??????
--Previous Message--
: Carleigh has never been diagnosed with
: Sticklers. My doc said that the stickler
: blood test is only 60% accurate, so they do
: the bone scan and then if there are any
: concerns we'll do the blood work. She had
: her blood drawn for chromosomes work.
: Checking for Turners and other syndromes.
: The only reason they are checking for
: Turners is because of her web neck. Doc
: doesn't think she has it, she is just
: covering her steps I think!
:
: Also- my doc said that Carleigh has a
: "flatter face" so thats reason for
: bone scan. She also is in need of another
: eye exam. Hasn't been checked since 3
: months, so they want to see about any eye
: problems appearing. Basically they are just
: trying all angles to make sure we know
: whether its isolated or not. I hope I
: answered your question.
:
: --Previous Message--
: Becky,
:
: I am also sorry to hear how long and
: frustrating your day was. While CHOP is a
: superb facility, it can still feel like a
: cattle herd sometimes. It feels as though
: doctors are withholding info sometimes,
: doesn't it? That makes no sense, but when
: you are overwhelmed and you're not sure
: what's going on, nothing seems to make
: sense.
:
: I do have a question for you. My son was
: diagnosed with Stickler via genetic testing
: while he was in the NICU after birth. Why
: the bone scan? Was genetic testing done?
: If not, why not? And if yes, then why the
: bone scan also? I'm just confused and
: appreciate your help...
:
:
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