--- 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