Posted by Alison on 7/13/2008, 9:20 pm, in reply to "Re: sticklers test?"
209.239.21.180
--Previous Message--
: We were told that Sticklers could be tested by
: blood test, but that it could only be ruled
: in, not ruled out. In other words, if it is
: a mutation that is known, it may be found,
: but a negative test is not conclusive. A
: negative test might mean the mutation was
: missed, but it might also mean that the
: Sticklers is a variant that is not yet
: determinable from blood test.
:
: Basically, our family history makes it
: possible, but not probable, that Sticklers
: is the cause of my child's PRS. So, we were
: told that no matter what the blood test
: says, we need to presume our son is at risk
: for Sticklers-type conditions, such as
: scoliosis, hearing loss, or eye problems.
: But, we were going to do that anyway. If we
: begin to see signs of Sticklers, they will
: try to test, but the only benefit for us
: will be try to identify a genetic mutation
: for the ease of diagnosing other family
: members and future children. Even having
: Sticklers does not mean that it will present
: with any symptoms.
:
: Hope this is helpful.
:
: --Previous Message--
: My daughter was diagnosed via genetic
: testing
: of her blood. It took less than a week. Your
: doctor is misinformed. We were at a
: Children's hospital, and they tested Kate
: because of a failed newborn hearing test.
:
: --Previous Message--
: My son wqas diagnosed with Sticklers Type II
: via genetic testing. They found a mutation
: of the COLIIA1 gene. I have the actual
: report. I have no idea what your doctor
: means. I would inquire further.
:
: --Previous Message--
: Is there a test that can be done to check
: for
: sticklers? Our doctors and our geneticist
: keep telling us it's an isolated case of PRS
: with our son. But we can't help a slight
: tinge of paranoia when we look at some of
: the stats. He doesn't have any symptoms so
: far beyond the chin and palate. However,
: he's only 5 weeks old. We are getting tested
: for another syndrome, the name of which
: escapes me. But when asked about sticklees,
: the geneticist said there is "no such
: test". Those of you who have children
: with sticklers, how was it diagnosed?
:
: we got our diagnoses with a clinical visit..they have a "check list" of all symptoms and features of a person with sticklers syndrome..my daughter has prs and sticklers..as do 2 of my boys and myself..sticklers is a genetic thing..do you or your spouse have and signs of sticklers?ther can be first time ina family line...it is passed onby one operson and the child has a 50/50 chance of getting it..3 out of my four do..but it is really not the worst hting to have..you just manage and do lots of check ups...good luck with finding and answer!!
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