Thank you for your response. Although Stickler's Syndrome doesn't address a lot of the other issues going on, I'm wondering if my son has this in addition to PRS. I guess he and I will find out soon. He has an appointment at the University of Kentucky with a specialist on June 29th. Hopefully we'll get some answers. At this point, good or bad, it will just be nice to get those answers.
Everyone on here is so lucky to have found out early what's going on with their children. I wish that had been the case for my son. Just to have been able to "fix" things early in his life and avoid all the bad things that have happened since (physically and mentally) would have been worth more than I can relate. Unfortunately, we can't go back, so we will march forward. Please keep him in your prayers as I will do for all the children I've read about on here as well as for all those undiagnosed children/teens/adults out there. Where it not for my son, I would've never known about any of this.
Thank you for reading...Leigh
: Hey there...have you ever thought about
: sticklers syndrome? This is the most common
: genetic syndrome associated with prs and it
: is passed down from parent to child. It
: affects the eyes/ears/joints. Maybe he just
: has this and not prs. A small lower jaw is
: associated with it. My daughter also had
: tongue tie but that was taken down as an
: infant. I would do some further research and
: see about a genetics consult.
: --Previous Message--
: --Previous Message--
: I am the mother of a 17 yr old boy with
: undiagnosed PRS and an incredibly new
: poster here.
: I first noticed my son's extremely small
: chin and mouth when he was about 5 yrs old.
: He also has a tongue that he can barely
: stick out because it is attached too closely
: to the end. Not one MD or dentist ever
: thought this was something worth worrying
: about. He wasn't born with a cleft lip or
: Since his teeth came in weird and it was
: obvious he was going to need braces, we were
: referred to a specialist. He got his braces
: (@ 11 yrs old), and after about 3 years,
: they put on a Herp's (spelling??) appliance
: that was supposed to force his chin out
: about 1 1/4" and stimulate growth.
: While it was on, it worked great. But 3
: months shy of when it was supposed to come
: off, one side broke. His orthodontist chose
: not to put it back on and, at the time (May
: 2008), things seemed to be great. About 4
: months later (Sept 2009), his chin started
: receeding again. It has been about 1 year 8
: months since the appliance broke, and he is
: now having difficulty speaking and eating.
: His chin draws back towards his neck
: constricting his voice box and esophagus.
: I would appreciate some guidance/information
: on where to go from here. His father has a
: much milder form of all of these things
: (small chin/mouth, tongue attached too
: closely to the end).
: Any ideas? Anyone?
: Thanks for reading.
: The "4 months later" date should
: read "Sept 2008 " NOT
: "Sept 2009", and my son just
: reminded me that he has major issues with
: his eyes. He has uncontrollable blinking
: and what he can only describe as "eye
: twitchiness". He also says he has
: episodes of momentary, sporadic
: "blindness". These episodes last
: for less than a second, but happen
: repeatedly. Has anyone had an older child
: relate these kind of issues to them?
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