I glad I could be of some help to you. That's why we're here. :-) If you
need anything else just let us know.
Tony Mac's Dad
-----Original Message-----
From: ramiree2004 [mailto:ramiree@...]
Sent: Friday, January 14, 2005 5:00 AM
To: sticklersyndrome@yahoogroups.com
Subject: Re: [Stickler Syndrome ] Sticklers syndrome and PRS



Hello Tony,

Many, many thanks for your information and advice. I found the web
you recommended very useful.
I will insist on doing the test on my next appointment with the
geneticist, and will prepare a thorough family information as well as
use the experiences that people like you have had.

I hope the test can be done in Spain and we can pass the
price "barrier"·. It is difficult here to find people aware of PRS
and associated syndromes in other specialities than
maxilofacial/plastic surgery.

I wish you the best with your daughter.
Kind regards,
Elena.



--- In sticklersyndrome@yahoogroups.com, "Tony Sizemore"
<tsizemore@n...> wrote:
> 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@e...]
> 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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