Posted by Karin on 3/4/2008, 2:46 pm, in reply to "Re: Bad day... just blabbing!"
204.227.241.18
Just for comparison, here is what our genetics folks said. They said, within any one individual, a blood test using current technology can confirm Sticklers but cannot rule it out. This is because there are variants of Sticklers that they have not yet identified the markers for. But, if a marker is found in one family member, then other family members can be tested to see if they have that marker, and it would be unusual for one family to have two different variations of Sticklers.
--Previous Message--
: Perhaps the CH you go to has a differant type
: of Sticklers blood test. I have no idea. I
: wouldn't be worried at all about your twins.
: Every doctor has its own way of doing
: things, but they also each know their area.
: If it was something to be concerned about I
: am sure they would of told you.
:
: Just because one hospital prefers doing one
: test before another or whatever doesn't mean
: that one is right or wrong necessarily.
: Maybe you should just ask your genetist what
: the accuracy of thier test is. Just an idea.
:
:
:
: --Previous Message--
: 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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