Elena
It is very important that you try to get the test done now. If you where to
get a positive test back there are a number of this that you would need to
watch for most importantly I think Vision and hearing testing on a more
often.
It is very hard even in the U.S. for some people to get the testing done. I
personally had to demand that it get done over the Geneticists saying there
was no indication that Stickler or Marshall would be found. I was correct.
Here is a Link to one place that I know is doing the test. I have spoken
with them a couple of time and they are very nice and willing to give you
information if they can. http://www.ctgt.net/
As for the test if do not know the name of the test but you want a test done
on the COL11A1 and COL2a1 gene. these are the two genes related to Stickler
and Marshall Syndrome. Both Stickler and Marshall are past done on the
dominant Gene. They estimate the 1 in 10,000 people are effected in some
way. Like any genetic abnormality it can also happen randomly like my
daughters.
I hope this helps. Keep fighting for your daughter you will find a doctor
that will do the test. I will tell you this. In the U.S. this test is very
expensive so that may play a part in you not finding someone willing to
order it.
Tony Sizemore
www.tsizemore.dns2go.com

"Could we change our attitude, we should not only see life differently,
but life itself would come to be different. Life would undergo a change
of appearance because we ourselves had undergone a change of attitude."

Katherine Mansfield
1888-1923, Writer


-----Original Message-----
From: ramiree2004 [mailto:ramiree@...]
Sent: Wednesday, January 12, 2005 7:48 PM
To: sticklersyndrome@yahoogroups.com
Subject: [Stickler Syndrome ] Sticklers syndrome and PRS



Hello,

I have a 5 months old baby with PRS. I live in Europe in a country
where having a genetist in the bunch of doctors seing your child is
not common. When asking the specialists currently treating my little
daughter (plastic-maxilofacial surgeon, pediatrician, etc)they do not
feel the need of looking at this until she will enter into a
reproductive age...

I also have other children, one of them with high astigmatism in one
eye that appeared 2 years ago - him being 4. As more than a third of
the PRS babies apparently have also Sticklers, I would like to know
if in your country it is common to diagnose/discart Stickers for PRS
children, as well as what is the name of the genetic test done, its
soundability and your advice on whether I should visit a genetist or
just "wait and see".

I was born myself with a soft cleft palate (no other known cases in
the family)and we do have some joint problems, scoliosis, low to
medium myopia and astigmatism in some members of my husband very
large family but no syndrome diagnosed.

Is it common for the people in this group, not to have a clear
diagnose of SS until a baby with PRS or cleft palate is born? Does
the syndrome hide often?

Many thanks in advance for your help,
Elena.





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