Guest guest Posted May 8, 2006 Report Share Posted May 8, 2006 Thanks, Beth! That is very helpful. I am making a list of questions to ask our doctors when they can finally get us scheduled. April --- bethgordon03 <bethgordon03@...> wrote: > ptosis and small eye openings are symptoms of other > conditions, I > recently saw a geneticist at Children's in DC and he > also explained > to me that some people with BPES have a gene > deletion, which will > include more " problems " than having a gene mutation > which usually > consists of the eyelid issues and nothing else. > > Genetic testing at this point, is about 80% for > locating the > mutation. So it is possible they couldn't " find it " > > > > > > > Hi Everyone, > > > > Our son, Micah, has suddenly stopped growing. Not > > just slow growth or short stature - stopped > growing > > all together. No bone growth AT ALL in the last > year. > > And he is not gaining weight, in fact he lost two > > pounds. All he does is eat all day long - so it > is > > not a nutritional issue. > > > > We have been referred to Children's Hospital and > are > > trying to find the cause for the lack of growth, > also > > called " Failure to Thrive " in the medical > community. > > (Such a misleading term as this child is happy and > > silly, and such a " thriving " and normal four year > old > > boy. He just isn't growing. But I digress.) > > > > In my research, I came across a couple of articles > > that are listing ptosis and blepharophimosis as > two of > > the MANY symptoms associated with fetal alcohol > > syndrome. (FAS) I had never heard this before > and > > wanted to share the information. > > > > http://www.aoj.org/abstracts/41/41_132.html > > > > http://www.emedicine.com/ped/topic767.htm > > > > If anyone else has information about this could > you > > please post and pass it on? And if anyone is > headed > > to a geneticist soon can you ask about this? I > tried > > to schedule us and the soonest they can get us in > is > > August. > > > > Because Micah is adopted I have no idea what > prenatal > > exposure he had. Birthmom did admit to drinking - > but > > of course we have no way of knowing how much. > Also, > > his genetic testing in Korea came back normal - > which > > seems weird for BPES. So we are trying to piece > this > > all together. > > > > Thanks! > > April Eisele, Colorado, USA > > Wife to Jon > > Mommy to Mira, Micah & Misha > > > > > > > > > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You are posting as a guest. If you have an account, sign in now to post with your account.
Note: Your post will require moderator approval before it will be visible.