Guest guest Posted September 21, 2004 Report Share Posted September 21, 2004 Thank you for your helpful information. We acutally live right outside of Orlando, Florida in a city called Apopka. We would love to meet up with you if we can. I did already fill out the database you guys have going with Darryl's information. Since this condition is so rare I feel this type of information if very important to start collecting. Thanks again, talk to you soon. > Hi > > Welcome to the group. I know there are some people in Florida who are part > of this group, and I am sure they will help you. I live in London, England, > and am planning on visiting Florida in November. We might be able to arrange > to meet up, which would be nice, > > Like your son Darryl, I am the only person in my family with BPES. I had > surgery at 2.5, mainly because I was tilting my head backwards too much, and > I guess they thought that this was affecting my posture. Not everyone does > this, I saw a little girl in the summer and she did not need to tilt her > head at all (she was a toddler age). > > I have been to see a genetic counsellor twice. I found it was very helpful > for me to understand more about BPES. I spent about an hour each time, > asking questions, and they in turn wanted to ask me questions. At the time > there was not as much information on the Internet, I guess if I were to go > now, I would have read as much as I could, and then asked them a different > set of questions. > > As far as testing goes, I have participated in a study, which is being run > by Dr Small. I know that several members of this group have contacted Dr > Elfride De Baere for testing purposes (she works in Belgium). Perhaps one of > the members of the group can tell us what that involved, what sort of > information they got, and how it has helped them. I know that in some > countries it is important to get a definite diagnosis so that the person can > benefit from an extended range of medical help & support. I don't know if > that applies in the USA. > > This web site is a comprehensive starting point: > http://www.geneclinics.org/servlet/access? db=geneclinics & site=gt & id=8888891 & > key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.htm l > > You may like to look here too: > (list of useful articles) > http://freespace.virgin.net/andy.bowles/page6.html > > and here: > (list of questions you might like to ask your doctor) > http://freespace.virgin.net/andy.bowles/page8.html > > Information for Dr Small (he is listed in the database section in the > group) > http://freespace.virgin.net/andy.bowles/page7.html > > Finally, we are trying to build up the database section in the Group. > This is to help people find others close to home (or if they are planning to > travel) and there is a very brief synopsis of surgery. Participation is > optional, and you need put as little or as much information as you like. > There are about 162 members in the group all together, and about one third > are in the database called " BPES list " . (if you go there and click on > " country " , they are sorted by country). > > Take care, Shireen, London, England. > > blepharophimosis Any one in Florida area/Are we doing the right > thing? > > > Our son Darryl has bpes, he is the only one with it in our family and > we have so many questions. He had his first surgery done when he was > 5 weeks old cause he couldn't open up his eyelids at all. He looked > like he was sleeping all the time and cried alot. Since the surgery > he is doing much better and is now 8 months old and needs to go in > and get an adjustment done cause his lids look low again. I was just > wandering if anyone from Florida is in this group? I'm also just > wondering if my husband and I are doing the correct thing for our > child, I just feel like were kinda in the dark and just going by what > our doctor tells us. We have a really wonderful surgeron and in his > 20 years or so of practice he has seen a few children with bpes but > Darryl is his youngest patient to date. I have read some of the > group talking about genetic testing. If we go see a genetic > counselor how can they help us? > Any information anyone feels like sending our way would be very much > appreciated. > I think this is a wonderful group with lots of great information and > look forward to being a part of it. > When we get time we will be posting pictures of our Darryl and his > other sister and brother as well. > Take care everyone. > Cheryl, , , Hollie & Darryl > > > > Quote Link to comment Share on other sites More sharing options...
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