Hi Debby

I am so glad I am not the only one! Is she still having platelet
issues? When I saw Ryan begin to bruise it was a very scary thing.
We were still so involved with so many other things for Stickler and
PRS. We just had to have another CBC w/platelets done yesterday
because of familiar symptoms.

I am still new to groups online and am slightly distracted with a
very busy Ryan. LOL So please forgive the way I may post.

--- In sticklersyndrome@yahoogroups.com, "deb" <caliroze2002@...>
wrote:
>
> --- In sticklersyndrome@yahoogroups.com, "sarah_maria_43213"
> <hannahlael@> wrote:
> >
> > My name is Sarah and my son Ryan has PRS and Stickler. He is now
> > five years old. Ryan has had the mandibular distraction (at 3
> weeks
> > old) that brought his jaw out 16 mm, cleft repair, multiple sets
of
> > tubes, hearing loss, knock knees, very high myopia and the
> trickiest
> > issues arise.
> >
> > My question to anyone Stickler affected (my son's Stickler was a
> > spontaneous mutation caused by a previously unknown variant in
the
> > COL2A1 gene) or with a Stickler child is about other issues that
> may
> > come up.
> >
> > My son also has Sensory Integration Dysfunction. Has anyone else
> had
> > this diagnosis? Also has anyone else had other health issues
that
> > have come about? (My son has a history of low platelets though
> there
> > has been no reason for it since he was 2.)
> >
> > Also, does anyone live in Indiana???? Are there any support
groups
> > in Indiana for Stickler?
> >
> > Thank you all so much in advance.
> >
> > Sarah
> >
>
> hi sarah,
> my daughter, now 19 was born with a cleft palate, PRS,and stickler
> syndrome.My other daughter, 21, has sticklers syndrome, no cleft,
> congenital cataracts,and had her retina detach in one eye 2 years
ago.
> She had a "buckle"put on the eye, but she has little vision in that
> eye. One of my sons has had several eye surgeries to correct his
> retina detachments, he has sticklers. My oldest son does not have
> sticklers or any of these other medical problems. The kids father
has
> sticklers, PRS, and was born with a cleft palate and has had 9 knee
> surgeries due to the osteoarthritis in both knees. So there is a
> definite family history of sticklers in my family. When my youngest
> daughter was 11, she was diagnosed with ITP...idiopathic immune
> thrombocytopenic purpura-which is a autoimmune blood disease. Her
> spleen looks at her platelets as "infection" and destroys them.
> Idiopathic means they don't know why or how she got the
disease.When
> her platelet count is low, then she bruises easily and her blood
does
> not coagulate. If her platelet count is very low, she could have
> serious problems with bleeding. When you mentioned in your posting
> that your son has low platelets i wanted to tell you about my
> daughter.I've been told by the doctors that there is no connection
> with the ITP and the sticklers syndrome since sticklers is a
> connective tissue disorder. I do find it interesting that your son
> has low platelets also. Sorry i've written so much, good luck to you
> debby
>