RE: Any one in Florida area/Are we doing the right thing?

[Guest guest]

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.html

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.

-----Original Message-----From: keith8ll [mailto:keith8ll@...]Sent: 19 September 2004 05:07blepharophimosis Subject: 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 muchappreciated.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

[Guest guest]

hi...welcome to the site!

our daughter is also the only one in our family with bpes...and had surgery at 9 weeks (frontal slings) to get her eyes open...they seem to be holding up well...she is 4 1/2 years old now and is doing great...we were concerned that she may need to get the slings done again...but she does not....as far as the surgery to open her eyes further...we have decided to let her be a part of the decision process and wait...even though there are surgeons that will do the surgery very early...

i know that this can be so frustrating not knowing what to do for your child...wanting the best...wanting answers...my husband and i have found that by asking tons of questions and getting several opinions has helped us feel very secure in the decisions we make for our daughter...(some doctors might not like that and if so then i wonder what they have to hide...ask for references from other folks they have performed the surgery on...get a second or third opinion...keep asking questions...look up different articles...)

we have also hooked up with a couple of families in our area and that has helped us so much...it is a wonderful support network in addition to this site...

where in florida do you live? my family lives near melbourne and we travel down there quite a bit from the atlanta area...in fact we will be there this weekend...would love to meet up if possible...take care...debbiekeith8ll <keith8ll@...> wrote:

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 muchappreciated.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

[Guest guest]

hi , , holly and Darryl

our son Lynden had surgery at an early age too......... 6 weeks old, if you go into the pictures and look my son LYNDEN you can see by his 1st picture that we had big time problems with his looking like he is "sleeping" as people called it, having the surgery so young helped my son with his vision tremendously.

Tonikka

-----Original Message-----From: keith8ll [mailto:keith8ll@...]Sent: September 18, 2004 10:07 PMblepharophimosis Subject: 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 muchappreciated.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

[Guest guest]

Hello there, my name is Kim and my son Brock has bpes. We just moved to Georgia from Florida, the Orlando area, but Brock had all of his surgeries in ville. Brock h ad his first surgery at 8 weeks old then the second at 4 years old. It sounds like you are doing the best you can, like all of us are. It is a hard decision to know when and what kinds of surgery for your child, we had a lot of trust in our doctor in ville and we had faith that we were doing the right thing for Brock. I am not sure where you live in Florida, but we go to ville often to visit our family, if you would ever like to meet sometime let me know. Brock is 5 years old now, and we think he looks Great! We are probably a little prejudiced though. Good luck and you are lucky you found this group, it will help you alot! Kim McNattkeith8ll <keith8ll@...> wrote:

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 muchappreciated.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