Re: BPES and Genetics Questions

[Guest guest]

Hi Sydney,

My daughter was just diagnosed with BPES and she is 13. She is the

only one in her family to have this eye disorder. There are no

relatives on either side of the family that has this. She hasn't

started her period yet so we are going to go to the endocrinologist

to see how her hormone levels are. She gets picked on every day at

school about her eyes. Even though she is 13 she said she doesn't

want to have children. She doesn't want to pass this on to her

children. She said she would like to adopt. Even though she deals

with this disorder every day she is the most compassionate and

caring individual for being her age. I thought I would let you know

about my daughter being the only one in our family.

from New Hampshire

>

> Hi everyone,

>

> I've been reading the posts about BPES being passed through

parents'

> genes, and I come from a family where absolutely nobody has it,

not my

> parents or aunts or uncles or grandparents. Is it more common to

get

> BPES from your parents or just randomly? I know when my mother was

> researching this many years ago, it came up that it's impossible to

> have a child with BPES if neither parent has it, but obviously it's

> not true because I exist. Is there anyone else with BPES who has no

> family members with the disorder?

>

> Also, I was wondering about POF. I'm only 23 and the prospect of

> having POF and early menopause is terrifying to me. What are the

> statistics when it comes to who gets POF and who doesn't?

Personally,

> having children has never been of great interest to me (partially

> because I really don't want to pass BPES on - it's been a horrible

> thing in my life) so I never thought about it, but after reading

these

> posts about POF, I realize that I might never have the option of

> having kids. I was trying to find out how to get tested for it,

and I

> read that you can get blood tests, but will it show up that I will

> have POF in the future if I'm not being affected by it now? I'm

just

> curious if anyone knows. I tried to do some research on my own but

it

> was all kind of confusing, and upsetting.

>

> I know I don't post often at all in this forum, but I do read the

> posts every day. I posted a while back when I joined the site

because

> I was trying to find a doctor who could help me. Somebody directed

me

> to Boston Children's Hospital, to Dr. , and I was referred

by

> him to a Dr. Elliot. While the visit didn't produce any amazing

> solutions to my many problems, Dr. Elliot was absolutely

wonderful. I

> was hoping that I could have surgeries to help with my eye

infections

> and the daily problems I experience from BPES, but the most she

could

> do was reverse the surgeries I've had, which would leave me with

> nearly closed eyes and skin grafts from a cadaver. I ended up in

her

> office crying for what seemed like forever, but she didn't rush me

out

> or anything. She did everything she could to really help me find

ways

> to keep the pain and the other symptoms down, so I wanted to let

> everyone out there know how wonderful she is. I saw her at the

Boston

> Children's Hospital at Waltham, if anyone is interested. I think

it's

> important to have a truly caring and compassionate doctor when it

> comes to dealing with this disease.

>

> Anyhow, I'll finish up for now. If anyone has answers to any of my

> questions, it would be great to hear from you, and thank you all

for

> all the information you post.

>

> Sydney

> Upstate NY, USA

>

[Guest guest]

Sydney;

Thanks for sharing your experience. Just want to let you know that there are others out there who also have no family history of BPES. It seems that it took just enough amount of this and that to zap that certain chromosome just the amount needed to cause the " mutation " , if you will, that you and I live with today.

I don't know if you believe in God, but a quote from the Bible always encourages me about my circumstance.

in Chapter 9.

" As he (Jesus) went along, he saw a man blind from birth. His disciples asked him, " Teacher, who sinned, this man or his parents, that he was born blind? " " Neither this man nor his parents sinned, " said Jesus, " but this happened so that the work of God might be displayed in his life. " (yours and my life)

It did not answer the questions, but this was what I held onto many many times of locking myself in my room - locking myself in my heart - trying to understand why, It reminded that there is a purpose; something to look forward to. To me a strange mysterious comfort on a bleak horizon.

Don't ever give up hope. Ever.

Sam.

On 2/19/07, tragedymae <xmissvixenx@...> wrote:

Hi everyone,I've been reading the posts about BPES being passed through parents'genes, and I come from a family where absolutely nobody has it, not myparents or aunts or uncles or grandparents. Is it more common to get

BPES from your parents or just randomly? I know when my mother wasresearching this many years ago, it came up that it's impossible tohave a child with BPES if neither parent has it, but obviously it's

not true because I exist. Is there anyone else with BPES who has nofamily members with the disorder?Also, I was wondering about POF. I'm only 23 and the prospect ofhaving POF and early menopause is terrifying to me. What are the

statistics when it comes to who gets POF and who doesn't? Personally,having children has never been of great interest to me (partiallybecause I really don't want to pass BPES on - it's been a horrible

thing in my life) so I never thought about it, but after reading theseposts about POF, I realize that I might never have the option ofhaving kids. I was trying to find out how to get tested for it, and Iread that you can get blood tests, but will it show up that I will

have POF in the future if I'm not being affected by it now? I'm justcurious if anyone knows. I tried to do some research on my own but itwas all kind of confusing, and upsetting.I know I don't post often at all in this forum, but I do read the

posts every day. I posted a while back when I joined the site becauseI was trying to find a doctor who could help me. Somebody directed meto Boston Children's Hospital, to Dr. , and I was referred by

him to a Dr. Elliot. While the visit didn't produce any amazingsolutions to my many problems, Dr. Elliot was absolutely wonderful. Iwas hoping that I could have surgeries to help with my eye infections

and the daily problems I experience from BPES, but the most she coulddo was reverse the surgeries I've had, which would leave me withnearly closed eyes and skin grafts from a cadaver. I ended up in heroffice crying for what seemed like forever, but she didn't rush me out

or anything. She did everything she could to really help me find waysto keep the pain and the other symptoms down, so I wanted to leteveryone out there know how wonderful she is. I saw her at the BostonChildren's Hospital at Waltham, if anyone is interested. I think it's

important to have a truly caring and compassionate doctor when itcomes to dealing with this disease.Anyhow, I'll finish up for now. If anyone has answers to any of myquestions, it would be great to hear from you, and thank you all for

all the information you post.SydneyUpstate NY, USA

[Guest guest]

, thank you for telling me about your daughter - she sounds a

lot like me. I got picked on a lot when I was a kid, but when I was

12, we moved to a much smaller and far more judgmental town, and got

picked on a LOT more, and it still happens. I also ended up being

really caring and compassionate and for years now have been working

with teenage kids who have all kinds of emotional and behavioral

problems. When I was young, I decided that I should adopt kids to save

them from the problems I faced, but began to realize that it was a lot

more than that; I wanted to save kids from any kind of problems,

especially that of living in orphanages and bad foster homes. I think

it makes sense for me to adopt children, but now knowing that I really

may never have the choice to have my own is hard to think about. I

live in a small town, so I'm trying to find the right places to do

testing to find out what my situation is, and hopefully I'll know

soon... And maybe one of these days there will be a BPES gathering in

the New England area. I've never met anybody else with it and I think

it would be nice to meet your daughter, and maybe share my experiences

with her. Thank you for responding to me.

Sydney

> >

> > Hi everyone,

> >

> > I've been reading the posts about BPES being passed through

> parents'

> > genes, and I come from a family where absolutely nobody has it,

> not my

> > parents or aunts or uncles or grandparents. Is it more common to

> get

> > BPES from your parents or just randomly? I know when my mother was

> > researching this many years ago, it came up that it's impossible to

> > have a child with BPES if neither parent has it, but obviously it's

> > not true because I exist. Is there anyone else with BPES who has no

> > family members with the disorder?

> >

> > Also, I was wondering about POF. I'm only 23 and the prospect of

> > having POF and early menopause is terrifying to me. What are the

> > statistics when it comes to who gets POF and who doesn't?

> Personally,

> > having children has never been of great interest to me (partially

> > because I really don't want to pass BPES on - it's been a horrible

> > thing in my life) so I never thought about it, but after reading

> these

> > posts about POF, I realize that I might never have the option of

> > having kids. I was trying to find out how to get tested for it,

> and I

> > read that you can get blood tests, but will it show up that I will

> > have POF in the future if I'm not being affected by it now? I'm

> just

> > curious if anyone knows. I tried to do some research on my own but

> it

> > was all kind of confusing, and upsetting.

> >

> > I know I don't post often at all in this forum, but I do read the

> > posts every day. I posted a while back when I joined the site

> because

> > I was trying to find a doctor who could help me. Somebody directed

> me

> > to Boston Children's Hospital, to Dr. , and I was referred

> by

> > him to a Dr. Elliot. While the visit didn't produce any amazing

> > solutions to my many problems, Dr. Elliot was absolutely

> wonderful. I

> > was hoping that I could have surgeries to help with my eye

> infections

> > and the daily problems I experience from BPES, but the most she

> could

> > do was reverse the surgeries I've had, which would leave me with

> > nearly closed eyes and skin grafts from a cadaver. I ended up in

> her

> > office crying for what seemed like forever, but she didn't rush me

> out

> > or anything. She did everything she could to really help me find

> ways

> > to keep the pain and the other symptoms down, so I wanted to let

> > everyone out there know how wonderful she is. I saw her at the

> Boston

> > Children's Hospital at Waltham, if anyone is interested. I think

> it's

> > important to have a truly caring and compassionate doctor when it

> > comes to dealing with this disease.

> >

> > Anyhow, I'll finish up for now. If anyone has answers to any of my

> > questions, it would be great to hear from you, and thank you all

> for

> > all the information you post.

> >

> > Sydney

> > Upstate NY, USA

> >

>

[Guest guest]

Hello Sydney, this is a parent speaking out for my child who is only 5 years old that has BPES!! There is no sign on BPES in our family on either side and somehow our son happened to be born this way also!! As a parent right now, we find it frustrating also, but so far we have had a great outcome with Marcus and his first surgery at 1 year of age. I do believe that God gave him the greatest personality and wonderful humor to contradict what he has. He at this age could care a less what anyone thinks and he has many friends that he has made in K-garten already!! They look at first like something might be wrong with him, but then they realize that he is just as fun as anyone else!! This is very hard on my husband and I but we know that God is with us and you have to believe that God has a purpose for all of us!! You are here for a reason and God will show you the way if you only give him the chance!! Sorry if you are not a religious person, I don't mean to preach, but this is truly what gets us through everyday as we also have a 3rd child that has a fatal disease called Cystic Fibrosis and that was passed on through my husband and I, not knowing that we even had this in our blood, again know one in our family has this and I am the youngest of 7 children with 26 nieces and nephews and not a one has either BPES OR CF!!! Believe me, without God, I would probably give up hope, but he only makes me stronger for I know this is where my children will be someday and me too!! He gave my husband and I a stronger relationship with him through our children! Don't give up and keep researching this, the more technology comes a long, the better they can do for you if you have a child with this BPES!! God loves all the little children of any kind and my babies are everything to me, with or without some differences that they may have!! I wouldn't give them up for the world and hopefully they will come out of these diseases learning and teaching others how to cope!! Hang in there girl!! We are only here to help!! Mesman's Hudsonville MI"S. Park" <playinthepark@...> wrote: Sydney; Thanks for sharing your experience. Just want to let you know that there are others out there who also have no family history of BPES. It seems that it took just enough amount of this and that to zap that

certain chromosome just the amount needed to cause the "mutation", if you will, that you and I live with today. I don't know if you believe in God, but a quote from the Bible always encourages me about my circumstance. in Chapter 9. "As he (Jesus) went along, he saw a man blind from birth. His disciples asked him, "Teacher, who sinned, this man or his parents, that he was born blind?" "Neither this man nor his parents sinned," said Jesus, "but this happened so that the work of God might be displayed in his life." (yours and my life) It did not answer the questions, but this was what I held onto many many times of locking myself in my room - locking myself in my heart - trying to understand why, It reminded that there is a purpose; something to look forward to. To me a strange mysterious comfort on a bleak horizon. Don't ever give up hope. Ever. Sam. On 2/19/07, tragedymae <xmissvixenxhotmail> wrote: Hi everyone,I've been reading the posts about BPES being passed through parents'genes, and I come from a family where absolutely nobody has it, not myparents or aunts or uncles or grandparents. Is it more common to get BPES from your parents or just randomly? I know when my mother wasresearching this many years ago, it came up that it's impossible tohave a child with BPES if neither parent has it, but obviously it's not true because I exist. Is there anyone

else with BPES who has nofamily members with the disorder?Also, I was wondering about POF. I'm only 23 and the prospect ofhaving POF and early menopause is terrifying to me. What are the statistics when it comes to who gets POF and who doesn't? Personally,having children has never been of great interest to me (partiallybecause I really don't want to pass BPES on - it's been a horrible thing in my life) so I never thought about it, but after reading theseposts about POF, I realize that I might never have the option ofhaving kids. I was trying to find out how to get tested for it, and Iread that you can get blood tests, but will it show up that I will have POF in the future if I'm not being affected by it now? I'm justcurious if anyone knows. I tried to do some research on my own but itwas all kind of confusing, and upsetting.I know I don't post often at all in this forum, but I do read the posts every

day. I posted a while back when I joined the site becauseI was trying to find a doctor who could help me. Somebody directed meto Boston Children's Hospital, to Dr. , and I was referred by him to a Dr. Elliot. While the visit didn't produce any amazingsolutions to my many problems, Dr. Elliot was absolutely wonderful. Iwas hoping that I could have surgeries to help with my eye infections and the daily problems I experience from BPES, but the most she coulddo was reverse the surgeries I've had, which would leave me withnearly closed eyes and skin grafts from a cadaver. I ended up in heroffice crying for what seemed like forever, but she didn't rush me out or anything. She did everything she could to really help me find waysto keep the pain and the other symptoms down, so I wanted to leteveryone out there know how wonderful she is. I saw her at the BostonChildren's Hospital at Waltham, if anyone is interested. I

think it's important to have a truly caring and compassionate doctor when itcomes to dealing with this disease.Anyhow, I'll finish up for now. If anyone has answers to any of myquestions, it would be great to hear from you, and thank you all for all the information you post.SydneyUpstate NY, USA

[Guest guest]

Hi Sydney,

Like yourself my son Marc was the first in both families to have

Blephs, but he was the most loved and loving little boy with lot's of

friends he's the same as an adult,he never let it get him down or

stop him doing anything,It's just how he was born! he is married with

two Children who is two who has not got Blephs and Alfie 6

month who has, but Like his daddy is so loved and such a happy baby.

>

June x Warrington (UK)

> Hi everyone,

>

> I've been reading the posts about BPES being passed through parents'

> genes, and I come from a family where absolutely nobody has it, not

my

> parents or aunts or uncles or grandparents. Is it more common to get

> BPES from your parents or just randomly? I know when my mother was

> researching this many years ago, it came up that it's impossible to

> have a child with BPES if neither parent has it, but obviously it's

> not true because I exist. Is there anyone else with BPES who has no

> family members with the disorder?

>

> Also, I was wondering about POF. I'm only 23 and the prospect of

> having POF and early menopause is terrifying to me. What are the

> statistics when it comes to who gets POF and who doesn't?

Personally,

> having children has never been of great interest to me (partially

> because I really don't want to pass BPES on - it's been a horrible

> thing in my life) so I never thought about it, but after reading

these

> posts about POF, I realize that I might never have the option of

> having kids. I was trying to find out how to get tested for it, and

I

> read that you can get blood tests, but will it show up that I will

> have POF in the future if I'm not being affected by it now? I'm just

> curious if anyone knows. I tried to do some research on my own but

it

> was all kind of confusing, and upsetting.

>

> I know I don't post often at all in this forum, but I do read the

> posts every day. I posted a while back when I joined the site

because

> I was trying to find a doctor who could help me. Somebody directed

me

> to Boston Children's Hospital, to Dr. , and I was referred

by

> him to a Dr. Elliot. While the visit didn't produce any amazing

> solutions to my many problems, Dr. Elliot was absolutely wonderful.

I

> was hoping that I could have surgeries to help with my eye

infections

> and the daily problems I experience from BPES, but the most she

could

> do was reverse the surgeries I've had, which would leave me with

> nearly closed eyes and skin grafts from a cadaver. I ended up in her

> office crying for what seemed like forever, but she didn't rush me

out

> or anything. She did everything she could to really help me find

ways

> to keep the pain and the other symptoms down, so I wanted to let

> everyone out there know how wonderful she is. I saw her at the

Boston

> Children's Hospital at Waltham, if anyone is interested. I think

it's

> important to have a truly caring and compassionate doctor when it

> comes to dealing with this disease.

>

> Anyhow, I'll finish up for now. If anyone has answers to any of my

> questions, it would be great to hear from you, and thank you all for

> all the information you post.

>

> Sydney

> Upstate NY, USA

>

[Guest guest]

I, too, am the proud parent of a non-inherited case of BPES. My daughter also has endured ridicule by her peers.......... right along with the children who have large noses, kinky hair, excess weight, etc. etc. etc...In the beginning, I asked many times, "Why us?" My daughter has stated quite pitifully many times, "OF COURSE this had to happen to ME!" My response has always been (because I truly believe it), that she was "chosen" to possess this trait, and singled out amongst all the others, because she is "special".Let's not forget, BPES is a "cosmetic" defect effecting the eyes/eyelids. Our children have healthy internal organs and a strong beating heart. They can see, hear, speak, feel, learn, live, and love. Should we be thankful? YES! If I had to "choose" a defect for my child, because for whatever reason God felt it necessary, BPES is not so bad a choice. There are a great many

parents who would trade this conditions with us in a heartbeat. We really are the fortunate ones!Karla Mesman <mkmesman@...> wrote: Hello Sydney, this is a parent speaking out for my child who is only 5 years old that has BPES!! There is no sign on BPES in our family on either side and somehow our son happened to be born this way also!! As a parent right now, we find it frustrating also, but so far we have had a great outcome with Marcus and his first surgery at 1 year of age. I

do believe that God gave him the greatest personality and wonderful humor to contradict what he has. He at this age could care a less what anyone thinks and he has many friends that he has made in K-garten already!! They look at first like something might be wrong with him, but then they realize that he is just as fun as anyone else!! This is very hard on my husband and I but we know that God is with us and you have to believe that God has a purpose for all of us!! You are here for a reason and God will show you the way if you only give him the chance!! Sorry if you are not a religious person, I don't mean to preach, but this is truly what gets us through everyday as we also have a 3rd child that has a fatal disease called Cystic Fibrosis and that was passed on through my husband and I, not knowing that we even had this in our blood, again know one in our family has this and I am the youngest of 7 children with 26 nieces and

nephews and not a one has either BPES OR CF!!! Believe me, without God, I would probably give up hope, but he only makes me stronger for I know this is where my children will be someday and me too!! He gave my husband and I a stronger relationship with him through our children! Don't give up and keep researching this, the more technology comes a long, the better they can do for you if you have a child with this BPES!! God loves all the little children of any kind and my babies are everything to me, with or without some differences that they may have!! I wouldn't give them up for the world and hopefully they will come out of these diseases learning and teaching others how to cope!! Hang in there girl!! We are only here to help!! Mesman's Hudsonville MI"S. Park" <playintheparkgmail> wrote: Sydney; Thanks for sharing your experience. Just want to let you know that there are others out there who also have no family history of BPES. It seems that it took just enough amount of this and that to zap that certain chromosome just the amount needed to cause the "mutation", if you will, that you and I live with today. I don't know if you believe in God, but a quote from the Bible always encourages me about my circumstance. in Chapter 9. "As he (Jesus) went along, he saw a man blind from birth. His disciples asked him, "Teacher, who sinned, this man or his parents, that he was born blind?" "Neither this man nor his parents sinned," said Jesus, "but this happened so that the work of God might be displayed in his life." (yours

and my life) It did not answer the questions, but this was what I held onto many many times of locking myself in my room - locking myself in my heart - trying to understand why, It reminded that there is a purpose; something to look forward to. To me a strange mysterious comfort on a bleak horizon. Don't ever give up hope. Ever. Sam. On 2/19/07, tragedymae <xmissvixenxhotmail> wrote: Hi everyone,I've been reading the posts about BPES being passed through parents'genes, and I come from a family where absolutely nobody has it, not

myparents or aunts or uncles or grandparents. Is it more common to get BPES from your parents or just randomly? I know when my mother wasresearching this many years ago, it came up that it's impossible tohave a child with BPES if neither parent has it, but obviously it's not true because I exist. Is there anyone else with BPES who has nofamily members with the disorder?Also, I was wondering about POF. I'm only 23 and the prospect ofhaving POF and early menopause is terrifying to me. What are the statistics when it comes to who gets POF and who doesn't? Personally,having children has never been of great interest to me (partiallybecause I really don't want to pass BPES on - it's been a horrible thing in my life) so I never thought about it, but after reading theseposts about POF, I realize that I might never have the option ofhaving kids. I was trying to find out how to get tested for it, and Iread that you

can get blood tests, but will it show up that I will have POF in the future if I'm not being affected by it now? I'm justcurious if anyone knows. I tried to do some research on my own but itwas all kind of confusing, and upsetting.I know I don't post often at all in this forum, but I do read the posts every day. I posted a while back when I joined the site becauseI was trying to find a doctor who could help me. Somebody directed meto Boston Children's Hospital, to Dr. , and I was referred by him to a Dr. Elliot. While the visit didn't produce any amazingsolutions to my many problems, Dr. Elliot was absolutely wonderful. Iwas hoping that I could have surgeries to help with my eye infections and the daily problems I experience from BPES, but the most she coulddo was reverse the surgeries I've had, which would leave me withnearly closed eyes and skin grafts from a cadaver. I ended up in heroffice crying

for what seemed like forever, but she didn't rush me out or anything. She did everything she could to really help me find waysto keep the pain and the other symptoms down, so I wanted to leteveryone out there know how wonderful she is. I saw her at the BostonChildren's Hospital at Waltham, if anyone is interested. I think it's important to have a truly caring and compassionate doctor when itcomes to dealing with this disease.Anyhow, I'll finish up for now. If anyone has answers to any of myquestions, it would be great to hear from you, and thank you all for all the information you post.SydneyUpstate NY, USA

Now that's room service! Choose from over 150,000 hotels in 45,000 destinations on Travel to find your fit.

[Guest guest]

I believe for whatever reason.... My Daugther has it.... Its actually a blessing... shell be 4yrs old.. God chose us for a reason.. I feel blessed that I could have her the way she is ~donna haskins <dhaskins214@...> wrote: I, too, am the proud parent of a non-inherited case of BPES. My daughter also has endured ridicule by her peers.......... right along with the children who have large noses, kinky hair, excess weight, etc. etc. etc...In the beginning, I asked

many times, "Why us?" My daughter has stated quite pitifully many times, "OF COURSE this had to happen to ME!" My response has always been (because I truly believe it), that she was "chosen" to possess this trait, and singled out amongst all the others, because she is "special".Let's not forget, BPES is a "cosmetic" defect effecting the eyes/eyelids. Our children have healthy internal organs and a strong beating heart. They can see, hear, speak, feel, learn, live, and love. Should we be thankful? YES! If I had to "choose" a defect for my child, because for whatever reason God felt it necessary, BPES is not so bad a choice. There are a great many parents who would trade this conditions with us in a heartbeat. We really are the fortunate ones!Karla Mesman <mkmesmansbcglobal (DOT) net> wrote: Hello Sydney, this is a parent speaking out for my child who is only 5 years old that has BPES!! There is no sign on BPES in our family on either side and somehow our son happened to be born this way also!! As a parent right now, we find it frustrating also, but so far we have had a great outcome with Marcus and his first surgery at 1 year of age. I do believe that God gave him the greatest personality and wonderful humor to contradict what he has. He at this age could care a less what anyone thinks and he has many friends that he has made in K-garten already!! They look at first like something might be wrong with him, but then they realize that he is just as fun as anyone else!! This is very hard on my husband and I but we know that God is with us and you have to believe that God has a purpose for all of us!! You are here for a reason and God will show you the way if you

only give him the chance!! Sorry if you are not a religious person, I don't mean to preach, but this is truly what gets us through everyday as we also have a 3rd child that has a fatal disease called Cystic Fibrosis and that was passed on through my husband and I, not knowing that we even had this in our blood, again know one in our family has this and I am the youngest of 7 children with 26 nieces and nephews and not a one has either BPES OR CF!!! Believe me, without God, I would probably give up hope, but he only makes me stronger for I know this is where my children will be someday and me too!! He gave my husband and I a stronger relationship with him through our children! Don't give up and keep researching this, the more technology comes a long, the better they can do for you if you have a child with this BPES!! God loves all the little children of any kind and my babies are everything to me, with or without some differences that they may

have!! I wouldn't give them up for the world and hopefully they will come out of these diseases learning and teaching others how to cope!!Hang in there girl!! We are only here to help!!Mesman'sHudsonville MI"S. Park" <playintheparkgmail> wrote: Sydney; Thanks for sharing your experience. Just want to let you know that there are others out there who also have no family history of BPES. It seems that it took just enough amount of this and that to zap that certain chromosome just the amount needed to cause the "mutation", if you will, that you and I live with today. I don't know if you believe in God, but a quote from the Bible always encourages me about my circumstance. in

Chapter 9. "As he (Jesus) went along, he saw a man blind from birth. His disciples asked him, "Teacher, who sinned, this man or his parents, that he was born blind?" "Neither this man nor his parents sinned," said Jesus, "but this happened so that the work of God might be displayed in his life." (yours and my life) It did not answer the questions, but this was what I held onto many many times of locking myself in my room - locking myself in my heart - trying to understand why, It reminded that there is a purpose; something to look forward to. To me a strange mysterious comfort on a bleak horizon. Don't ever give up hope. Ever. Sam. On 2/19/07, tragedymae <xmissvixenxhotmail> wrote:

Hi everyone,I've been reading the posts about BPES being passed through parents'genes, and I come from a family where absolutely nobody has it, not myparents or aunts or uncles or grandparents. Is it more common to get BPES from your parents or just randomly? I know when my mother wasresearching this many years ago, it came up that it's impossible tohave a child with BPES if neither parent has it, but obviously it'snot true because I exist. Is there anyone else with BPES who has nofamily members with the disorder?Also, I was wondering about POF. I'm only 23 and the prospect ofhaving POF and early menopause is terrifying to me. What are the statistics when it comes to who gets POF and who doesn't? Personally,having children has never been of great interest to me

(partiallybecause I really don't want to pass BPES on - it's been a horrible thing in my life) so I never thought about it, but after reading theseposts about POF, I realize that I might never have the option ofhaving kids. I was trying to find out how to get tested for it, and Iread that you can get blood tests, but will it show up that I will have POF in the future if I'm not being affected by it now? I'm justcurious if anyone knows. I tried to do some research on my own but itwas all kind of confusing, and upsetting.I know I don't post often at all in this forum, but I do read the posts every day. I posted a while back when I joined the site becauseI was trying to find a doctor who could help me. Somebody directed meto Boston Children's Hospital, to Dr. , and I was referred by him to a Dr. Elliot. While the visit didn't produce any amazingsolutions to my many problems, Dr. Elliot was absolutely

wonderful. Iwas hoping that I could have surgeries to help with my eye infectionsand the daily problems I experience from BPES, but the most she coulddo was reverse the surgeries I've had, which would leave me withnearly closed eyes and skin grafts from a cadaver. I ended up in heroffice crying for what seemed like forever, but she didn't rush me out or anything. She did everything she could to really help me find waysto keep the pain and the other symptoms down, so I wanted to leteveryone out there know how wonderful she is. I saw her at the BostonChildren's Hospital at Waltham, if anyone is interested. I think it's important to have a truly caring and compassionate doctor when itcomes to dealing with this disease.Anyhow, I'll finish up for now. If anyone has answers to any of myquestions, it would be great to hear from you, and thank you all for all the information you post.SydneyUpstate NY,

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Well said Donna, I agree with every single word you have said!! Lucy, Hampshire UKdonna haskins <dhaskins214@...> wrote: I, too, am the proud parent of a non-inherited case of BPES. My daughter also has endured ridicule by her peers.......... right along with the children who have large noses, kinky hair, excess weight, etc. etc. etc...In the beginning, I asked many times, "Why us?" My daughter has stated quite pitifully many times, "OF COURSE this had to happen

to ME!" My response has always been (because I truly believe it), that she was "chosen" to possess this trait, and singled out amongst all the others, because she is "special".Let's not forget, BPES is a "cosmetic" defect effecting the eyes/eyelids. Our children have healthy internal organs and a strong beating heart. They can see, hear, speak, feel, learn, live, and love. Should we be thankful? YES! If I had to "choose" a defect for my child, because for whatever reason God felt it necessary, BPES is not so bad a choice. There are a great many parents who would trade this conditions with us in a heartbeat. We really are the fortunate ones!Karla Mesman <mkmesmansbcglobal (DOT) net> wrote: Hello Sydney, this is a parent speaking out for my child

who is only 5 years old that has BPES!! There is no sign on BPES in our family on either side and somehow our son happened to be born this way also!! As a parent right now, we find it frustrating also, but so far we have had a great outcome with Marcus and his first surgery at 1 year of age. I do believe that God gave him the greatest personality and wonderful humor to contradict what he has. He at this age could care a less what anyone thinks and he has many friends that he has made in K-garten already!! They look at first like something might be wrong with him, but then they realize that he is just as fun as anyone else!! This is very hard on my husband and I but we know that God is with us and you have to believe that God has a purpose for all of us!! You are here for a reason and God will show you the way if you only give him the chance!! Sorry if you are not a religious person, I don't mean to preach, but this is truly

what gets us through everyday as we also have a 3rd child that has a fatal disease called Cystic Fibrosis and that was passed on through my husband and I, not knowing that we even had this in our blood, again know one in our family has this and I am the youngest of 7 children with 26 nieces and nephews and not a one has either BPES OR CF!!! Believe me, without God, I would probably give up hope, but he only makes me stronger for I know this is where my children will be someday and me too!! He gave my husband and I a stronger relationship with him through our children! Don't give up and keep researching this, the more technology comes a long, the better they can do for you if you have a child with this BPES!! God loves all the little children of any kind and my babies are everything to me, with or without some differences that they may have!! I wouldn't give them up for the world and hopefully they will come out of these diseases learning and

teaching others how to cope!!Hang in there girl!! We are only here to help!!Mesman'sHudsonville MI"S. Park" <playintheparkgmail> wrote: Sydney; Thanks for sharing your experience. Just want to let you know that there are others out there who also have no family history of BPES. It seems that it took just enough amount of this and that to zap that certain chromosome just the amount needed to cause the "mutation", if you will, that you and I live with today. I don't know if you believe in God, but a quote from the Bible always encourages me about my circumstance. in Chapter 9. "As he (Jesus) went along, he saw a man blind from birth. His disciples asked him,

"Teacher, who sinned, this man or his parents, that he was born blind?" "Neither this man nor his parents sinned," said Jesus, "but this happened so that the work of God might be displayed in his life." (yours and my life) It did not answer the questions, but this was what I held onto many many times of locking myself in my room - locking myself in my heart - trying to understand why, It reminded that there is a purpose; something to look forward to. To me a strange mysterious comfort on a bleak horizon. Don't ever give up hope. Ever. Sam. On 2/19/07, tragedymae <xmissvixenxhotmail> wrote: Hi everyone,I've been reading the posts about BPES being passed through parents'genes, and I come from a family where absolutely nobody has it, not myparents or aunts or uncles or grandparents. Is it more common to get BPES from your parents or just randomly? I know when my mother wasresearching this many years ago, it came up that it's impossible tohave a child with BPES if neither parent has it, but obviously it'snot true because I exist. Is there anyone else with BPES who has nofamily members with the disorder?Also, I was wondering about POF. I'm only 23 and the prospect ofhaving POF and early menopause is terrifying to me. What are the statistics when it comes to who gets POF and who doesn't? Personally,having children has never been of great interest to me (partiallybecause I really don't want to pass BPES on - it's been a horrible thing in my life) so I never

thought about it, but after reading theseposts about POF, I realize that I might never have the option ofhaving kids. I was trying to find out how to get tested for it, and Iread that you can get blood tests, but will it show up that I will have POF in the future if I'm not being affected by it now? I'm justcurious if anyone knows. I tried to do some research on my own but itwas all kind of confusing, and upsetting.I know I don't post often at all in this forum, but I do read the posts every day. I posted a while back when I joined the site becauseI was trying to find a doctor who could help me. Somebody directed meto Boston Children's Hospital, to Dr. , and I was referred by him to a Dr. Elliot. While the visit didn't produce any amazingsolutions to my many problems, Dr. Elliot was absolutely wonderful. Iwas hoping that I could have surgeries to help with my eye infectionsand the daily problems I

experience from BPES, but the most she coulddo was reverse the surgeries I've had, which would leave me withnearly closed eyes and skin grafts from a cadaver. I ended up in heroffice crying for what seemed like forever, but she didn't rush me out or anything. She did everything she could to really help me find waysto keep the pain and the other symptoms down, so I wanted to leteveryone out there know how wonderful she is. I saw her at the BostonChildren's Hospital at Waltham, if anyone is interested. I think it's important to have a truly caring and compassionate doctor when itcomes to dealing with this disease.Anyhow, I'll finish up for now. If anyone has answers to any of myquestions, it would be great to hear from you, and thank you all for all the information you post.SydneyUpstate NY, USA Now that's room service! Choose from over 150,000 hotels in 45,000 destinations on Travel to find your fit.

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[Guest guest]

Sydney

our 4year old son is also the first and only in the family with BPES

Caroline

Kent, UK

-- In blepharophimosis , " tragedymae " <xmissvixenx@...>

wrote:

>

> Hi everyone,

>

> I've been reading the posts about BPES being passed through parents'

> genes, and I come from a family where absolutely nobody has it, not my

> parents or aunts or uncles or grandparents. Is it more common to get

> BPES from your parents or just randomly? I know when my mother was

> researching this many years ago, it came up that it's impossible to

> have a child with BPES if neither parent has it, but obviously it's

> not true because I exist. Is there anyone else with BPES who has no

> family members with the disorder?

>

>

[Guest guest]

Hello to those of you that have written on having a child with non-inherited BPES. I just now read the posts from you. I too, have a relative with BPES. He is my nephew , , who is 27 months old. No one in my family had even HEARD of BPES until was diagnosed at almost 2 years old. He also has Ohdo, if you are familiar with that. As far as goes, he cannot talk well. He says one word things like: da da, ma ma, num num, and stuff like that. He cannot walk real well, he just started walking alone after his 2nd birthday. He goes to a special pre-school, and they work with him . He also goes to physical and occupational therapy. has worn glasses since 18months old. But, the best thing about is, he is the sweetest boy I've ever met. He loves every one, and he tries so hard to do things that his older ( 10 and 6 years) brothers do. He is very intelligent, he just can't put things into words yet. I love him with all my heart, and he has been a

huge blessing to our family.It is alot of work to take care of him,he also has respiratory problems (mainly when he gets a cold) and allergies. But my sister does a fantastic job juggling appointments every day, driving across town to get where he needs to go. And every one in our family agrees... has been a great joy in our family! He is going to have a long road ahead, but we will be there to help him in any way we can. That is why I decided to join this group.So I can read about other families and how they deal with the disorder, and then I can help my sister better. Thank you all for your questions and answers! Sincerely, in Calif.Lucy Chidgey <lcgosport@...> wrote: Well said Donna, I agree with every single word you have said!! Lucy, Hampshire UKdonna haskins <dhaskins214 > wrote: I, too, am the proud parent of a non-inherited case of BPES. My daughter also has endured ridicule by her peers.......... right along with the children who have large noses, kinky hair, excess weight, etc. etc. etc...In the beginning, I asked many times, "Why us?" My daughter has stated quite pitifully many times, "OF COURSE this had to happen to ME!" My response has always been (because I truly believe it),

that she was "chosen" to possess this trait, and singled out amongst all the others, because she is "special".Let's not forget, BPES is a "cosmetic" defect effecting the eyes/eyelids. Our children have healthy internal organs and a strong beating heart. They can see, hear, speak, feel, learn, live, and love. Should we be thankful? YES! If I had to "choose" a defect for my child, because for whatever reason God felt it necessary, BPES is not so bad a choice. There are a great many parents who would trade this conditions with us in a heartbeat. We really are the fortunate ones!Karla Mesman <mkmesmansbcglobal (DOT) net> wrote: Hello Sydney, this is a parent speaking out for my child who is only 5 years old that has BPES!! There is no sign on BPES

in our family on either side and somehow our son happened to be born this way also!! As a parent right now, we find it frustrating also, but so far we have had a great outcome with Marcus and his first surgery at 1 year of age. I do believe that God gave him the greatest personality and wonderful humor to contradict what he has. He at this age could care a less what anyone thinks and he has many friends that he has made in K-garten already!! They look at first like something might be wrong with him, but then they realize that he is just as fun as anyone else!! This is very hard on my husband and I but we know that God is with us and you have to believe that God has a purpose for all of us!! You are here for a reason and God will show you the way if you only give him the chance!! Sorry if you are not a religious person, I don't mean to preach, but this is truly what gets us through everyday as we also have a 3rd child that has a

fatal disease called Cystic Fibrosis and that was passed on through my husband and I, not knowing that we even had this in our blood, again know one in our family has this and I am the youngest of 7 children with 26 nieces and nephews and not a one has either BPES OR CF!!! Believe me, without God, I would probably give up hope, but he only makes me stronger for I know this is where my children will be someday and me too!! He gave my husband and I a stronger relationship with him through our children! Don't give up and keep researching this, the more technology comes a long, the better they can do for you if you have a child with this BPES!! God loves all the little children of any kind and my babies are everything to me, with or without some differences that they may have!! I wouldn't give them up for the world and hopefully they will come out of these diseases learning and teaching others how to cope!!Hang in there girl!! We are

only here to help!!Mesman'sHudsonville MI"S. Park" <playintheparkgmail> wrote: Sydney; Thanks for sharing your experience. Just want to let you know that there are others out there who also have no family history of BPES. It seems that it took just enough amount of this and that to zap that certain chromosome just the amount needed to cause the "mutation", if you will, that you and I live with today. I don't know if you believe in God, but a quote from the Bible always encourages me about my circumstance. in Chapter 9. "As he (Jesus) went along, he saw a man blind from birth. His disciples asked him, "Teacher, who sinned, this man or his parents, that he was born

blind?" "Neither this man nor his parents sinned," said Jesus, "but this happened so that the work of God might be displayed in his life." (yours and my life) It did not answer the questions, but this was what I held onto many many times of locking myself in my room - locking myself in my heart - trying to understand why, It reminded that there is a purpose; something to look forward to. To me a strange mysterious comfort on a bleak horizon. Don't ever give up hope. Ever. Sam. On 2/19/07, tragedymae <xmissvixenxhotmail> wrote: Hi

everyone,I've been reading the posts about BPES being passed through parents'genes, and I come from a family where absolutely nobody has it, not myparents or aunts or uncles or grandparents. Is it more common to get BPES from your parents or just randomly? I know when my mother wasresearching this many years ago, it came up that it's impossible tohave a child with BPES if neither parent has it, but obviously it'snot true because I exist. Is there anyone else with BPES who has nofamily members with the disorder?Also, I was wondering about POF. I'm only 23 and the prospect ofhaving POF and early menopause is terrifying to me. What are the statistics when it comes to who gets POF and who doesn't? Personally,having children has never been of great interest to me (partiallybecause I really don't want to pass BPES on - it's been a horrible thing in my life) so I never thought about it, but after reading

theseposts about POF, I realize that I might never have the option ofhaving kids. I was trying to find out how to get tested for it, and Iread that you can get blood tests, but will it show up that I will have POF in the future if I'm not being affected by it now? I'm justcurious if anyone knows. I tried to do some research on my own but itwas all kind of confusing, and upsetting.I know I don't post often at all in this forum, but I do read the posts every day. I posted a while back when I joined the site becauseI was trying to find a doctor who could help me. Somebody directed meto Boston Children's Hospital, to Dr. , and I was referred by him to a Dr. Elliot. While the visit didn't produce any amazingsolutions to my many problems, Dr. Elliot was absolutely wonderful. Iwas hoping that I could have surgeries to help with my eye infectionsand the daily problems I experience from BPES, but the most she

coulddo was reverse the surgeries I've had, which would leave me withnearly closed eyes and skin grafts from a cadaver. I ended up in heroffice crying for what seemed like forever, but she didn't rush me out or anything. She did everything she could to really help me find waysto keep the pain and the other symptoms down, so I wanted to leteveryone out there know how wonderful she is. I saw her at the BostonChildren's Hospital at Waltham, if anyone is interested. I think it's important to have a truly caring and compassionate doctor when itcomes to dealing with this disease.Anyhow, I'll finish up for now. If anyone has answers to any of myquestions, it would be great to hear from you, and thank you all for all the information you post.SydneyUpstate NY, USA Now that's room service! Choose from over 150,000 hotels in 45,000 destinations on Travel to find your fit. Inbox full of unwanted email? Get leading protection and 1GB storage with All New .

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[Guest guest]

Hi Sydney, i just wanted to focus on your point about others in the family having BPES, I was the first in my family, i have passed it to my daughter (11) As far as i am aware, BPES can be just one of those things that happen, which is what happened in my case. it can also be passed down to the children, but ony if the parent is affected. ie i was the first, my daughter has it and my son doesnt. not sure if this is any clearer, but wanted to tell you about us. - keep smiling clare teale herts.UKfall3005 <fall3005@...> wrote: Hi Sydney,Like yourself my son Marc was the first in both families to have Blephs, but he was the most loved and loving little boy with lot's of friends he's the same as an adult,he never let it get him down or stop him doing anything,It's just how he was born! he is married with two Children who is two who has not got Blephs and Alfie 6 month who has, but Like his daddy is so loved and such a happy baby. >June x Warrington (UK)> Hi everyone,> > I've been reading the posts about BPES being passed through parents'> genes, and I come from a family where absolutely nobody has it, not my> parents or aunts or uncles or grandparents. Is it more common to get> BPES from your parents or just randomly? I know when my mother was> researching this many years

ago, it came up that it's impossible to> have a child with BPES if neither parent has it, but obviously it's> not true because I exist. Is there anyone else with BPES who has no> family members with the disorder?> > Also, I was wondering about POF. I'm only 23 and the prospect of> having POF and early menopause is terrifying to me. What are the> statistics when it comes to who gets POF and who doesn't? Personally,> having children has never been of great interest to me (partially> because I really don't want to pass BPES on - it's been a horrible> thing in my life) so I never thought about it, but after reading these> posts about POF, I realize that I might never have the option of> having kids. I was trying to find out how to get tested for it, and I> read that you can get blood tests, but will it show up that I will> have POF in the future if I'm not being

affected by it now? I'm just> curious if anyone knows. I tried to do some research on my own but it> was all kind of confusing, and upsetting.> > I know I don't post often at all in this forum, but I do read the> posts every day. I posted a while back when I joined the site because> I was trying to find a doctor who could help me. Somebody directed me> to Boston Children's Hospital, to Dr. , and I was referred by> him to a Dr. Elliot. While the visit didn't produce any amazing> solutions to my many problems, Dr. Elliot was absolutely wonderful. I> was hoping that I could have surgeries to help with my eye infections> and the daily problems I experience from BPES, but the most she could> do was reverse the surgeries I've had, which would leave me with> nearly closed eyes and skin grafts from a cadaver. I ended up in her> office crying for

what seemed like forever, but she didn't rush me out> or anything. She did everything she could to really help me find ways> to keep the pain and the other symptoms down, so I wanted to let> everyone out there know how wonderful she is. I saw her at the Boston> Children's Hospital at Waltham, if anyone is interested. I think it's> important to have a truly caring and compassionate doctor when it> comes to dealing with this disease.> > Anyhow, I'll finish up for now. If anyone has answers to any of my> questions, it would be great to hear from you, and thank you all for> all the information you post.> > Sydney> Upstate NY, USA>

It's here! Your new message!Get

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[Guest guest]

Hello everyone, My name is and I've just discovered this

group. I am 30 years old. I was born with Blepharophimosis and

also a bunch of other eye and facial related defects. In my case it

was passed from my grandfather (only had one eye affected with it)

tom my dad and my uncle. My dad passed it to me. I however, had it

much, much worse than anyone else in my family and as far as I've

been told by doctors they have never seen a case as bad as mine. I

was actually missing the muscles and tendons that open and close

your eyelids. My parents took me from doctor to doctor and no one

would listen to them. Unfortunately because this is pretty rare not

too many doctors know about it or what it is. I in fact have never

found another doctor who has even heard of it. I have had about 18

surgeries on my face and eyes as a child. Around the age of 6 or 7

I had a muscle and tendon transplated from my leg into my face.

Although the muscle suceeded in lifting my eyelids a bit they are

still very weak. I was legaly blind until age 17. I still don't

have anywhere near perfect vision. In my right eye with my glasses

I am at 20/40 and my left eye is almost completely blind with my

glasses. The poor vision was due to the fact that for the first 7

years of my life my eyes were completely closed. My brain never

learned how to see. I have also experienced infertility due to

BPES. I don't know if anyone here has heard about that or not? It

usually affects women causing their ovaries to fail at a very young

age. I didn't even get my first period until I was almost 17 and

then it stopped at age 20. My husband and I have been married for 7

years and have never used any form of birth control and I've never

become pregnant. We have adopted 2 little girls. I am glad because

although I feel that being born this way has in the end made me a

much better and stronger person I also didn't want to watch my child

go through it. If I ever did get pregnant I most certainly would be

excited and welcome the child with open arms. IF the child had BPES

than it would be okay and I'd at least know from what I went through

how to help the child. I am so glad that I have actually found a

group where others know what it is like. I've never met anyone

other than my dad and uncle to have it. Plese if anyone wants to

talk more to me please e-mail me at love2adopt@...

Thanks so much.

> Hi Sydney,

> Like yourself my son Marc was the first in both families to have

> Blephs, but he was the most loved and loving little boy with lot's

of

> friends he's the same as an adult,he never let it get him down or

> stop him doing anything,It's just how he was born! he is married

with

> two Children who is two who has not got Blephs and Alfie 6

> month who has, but Like his daddy is so loved and such a happy

baby.

> >

> June x Warrington (UK)

>

> > Hi everyone,

> >

> > I've been reading the posts about BPES being passed through

parents'

> > genes, and I come from a family where absolutely nobody has it,

not

> my

> > parents or aunts or uncles or grandparents. Is it more common to

get

> > BPES from your parents or just randomly? I know when my mother

was

> > researching this many years ago, it came up that it's impossible

to

> > have a child with BPES if neither parent has it, but obviously

it's

> > not true because I exist. Is there anyone else with BPES who has

no

> > family members with the disorder?

> >

> > Also, I was wondering about POF. I'm only 23 and the prospect of

> > having POF and early menopause is terrifying to me. What are the

> > statistics when it comes to who gets POF and who doesn't?

> Personally,

> > having children has never been of great interest to me (partially

> > because I really don't want to pass BPES on - it's been a

horrible

> > thing in my life) so I never thought about it, but after reading

> these

> > posts about POF, I realize that I might never have the option of

> > having kids. I was trying to find out how to get tested for it,

and

> I

> > read that you can get blood tests, but will it show up that I

will

> > have POF in the future if I'm not being affected by it now? I'm

just

> > curious if anyone knows. I tried to do some research on my own

but

> it

> > was all kind of confusing, and upsetting.

> >

> > I know I don't post often at all in this forum, but I do read the

> > posts every day. I posted a while back when I joined the site

> because

> > I was trying to find a doctor who could help me. Somebody

directed

> me

> > to Boston Children's Hospital, to Dr. , and I was

referred

> by

> > him to a Dr. Elliot. While the visit didn't produce any amazing

> > solutions to my many problems, Dr. Elliot was absolutely

wonderful.

> I

> > was hoping that I could have surgeries to help with my eye

> infections

> > and the daily problems I experience from BPES, but the most she

> could

> > do was reverse the surgeries I've had, which would leave me with

> > nearly closed eyes and skin grafts from a cadaver. I ended up in

her

> > office crying for what seemed like forever, but she didn't rush

me

> out

> > or anything. She did everything she could to really help me find

> ways

> > to keep the pain and the other symptoms down, so I wanted to let

> > everyone out there know how wonderful she is. I saw her at the

> Boston

> > Children's Hospital at Waltham, if anyone is interested. I think

> it's

> > important to have a truly caring and compassionate doctor when it

> > comes to dealing with this disease.

> >

> > Anyhow, I'll finish up for now. If anyone has answers to any of

my

> > questions, it would be great to hear from you, and thank you all

for

> > all the information you post.

> >

> > Sydney

> > Upstate NY, USA

> >

>

>

>

>

>

>

> ---------------------------------

> It's here! Your new message!

> Get new email alerts with the free Toolbar.

>

[Guest guest]

hi wendy  .... welcome to the group, there are alot of wonderful people here who have both.......... families (history) and just one incidence (a child..or them selves) alot of individuals feel like you, i myself have a 9 year old son (lynden)who is the only one in our family to have it, he has had 4 surgeries starting when he was 6 weeks old and the last was at 4 yrs.  we here are very fortunate as we have a doctor right in our city that specializes in Blephwelcome to the group oh and.....where abouts are you from?Tonikka (lynden 9 yrs)edmonton, alberta, canadaOn 26-Feb-07, at 12:24 PM, mrslittleeyes wrote:Hello everyone, My name is and I've just discovered this group. I am 30 years old. I was born with Blepharophimosis and also a bunch of other eye and facial related defects. In my case it was passed from my grandfather (only had one eye affected with it) tom my dad and my uncle. My dad passed it to me. I however, had it much, much worse than anyone else in my family and as far as I've been told by doctors they have never seen a case as bad as mine. I was actually missing the muscles and tendons that open and close your eyelids. My parents took me from doctor to doctor and no one would listen to them. Unfortunately because this is pretty rare not too many doctors know about it or what it is. I in fact have never found another doctor who has even heard of it. I have had about 18 surgeries on my face and eyes as a child. Around the age of 6 or 7 I had a muscle and tendon transplated from my leg into my face. Although the muscle suceeded in lifting my eyelids a bit they are still very weak. I was legaly blind until age 17. I still don't have anywhere near perfect vision. In my right eye with my glasses I am at 20/40 and my left eye is almost completely blind with my glasses. The poor vision was due to the fact that for the first 7 years of my life my eyes were completely closed. My brain never learned how to see. I have also experienced infertility due to BPES. I don't know if anyone here has heard about that or not? It usually affects women causing their ovaries to fail at a very young age. I didn't even get my first period until I was almost 17 and then it stopped at age 20. My husband and I have been married for 7 years and have never used any form of birth control and I've never become pregnant. We have adopted 2 little girls. I am glad because although I feel that being born this way has in the end made me a much better and stronger person I also didn't want to watch my child go through it. If I ever did get pregnant I most certainly would be excited and welcome the child with open arms. IF the child had BPES than it would be okay and I'd at least know from what I went through how to help the child. I am so glad that I have actually found a group where others know what it is like. I've never met anyone other than my dad and uncle to have it. Plese if anyone wants to talk more to me please e-mail me at love2adoptcomcast (DOT) netThanks so much.> Hi Sydney,> Like yourself my son Marc was the first in both families to have > Blephs, but he was the most loved and loving little boy with lot's of > friends he's the same as an adult,he never let it get him down or > stop him doing anything,It's just how he was born! he is married with > two Children who is two who has not got Blephs and Alfie 6 > month who has, but Like his daddy is so loved and such a happy baby. > >> June x Warrington (UK)> > > Hi everyone,> > > > I've been reading the posts about BPES being passed through parents'> > genes, and I come from a family where absolutely nobody has it, not > my> > parents or aunts or uncles or grandparents. Is it more common to get> > BPES from your parents or just randomly? I know when my mother was> > researching this many years ago, it came up that it's impossible to> > have a child with BPES if neither parent has it, but obviously it's> > not true because I exist. Is there anyone else with BPES who has no> > family members with the disorder?> > > > Also, I was wondering about POF. I'm only 23 and the prospect of> > having POF and early menopause is terrifying to me. What are the> > statistics when it comes to who gets POF and who doesn't? > Personally,> > having children has never been of great interest to me (partially> > because I really don't want to pass BPES on - it's been a horrible> > thing in my life) so I never thought about it, but after reading > these> > posts about POF, I realize that I might never have the option of> > having kids. I was trying to find out how to get tested for it, and > I> > read that you can get blood tests, but will it show up that I will> > have POF in the future if I'm not being affected by it now? I'm just> > curious if anyone knows. I tried to do some research on my own but > it> > was all kind of confusing, and upsetting.> > > > I know I don't post often at all in this forum, but I do read the> > posts every day. I posted a while back when I joined the site > because> > I was trying to find a doctor who could help me. Somebody directed > me> > to Boston Children's Hospital, to Dr. , and I was referred > by> > him to a Dr. Elliot. While the visit didn't produce any amazing> > solutions to my many problems, Dr. Elliot was absolutely wonderful. > I> > was hoping that I could have surgeries to help with my eye > infections> > and the daily problems I experience from BPES, but the most she > could> > do was reverse the surgeries I've had, which would leave me with> > nearly closed eyes and skin grafts from a cadaver. I ended up in her> > office crying for what seemed like forever, but she didn't rush me > out> > or anything. She did everything she could to really help me find > ways> > to keep the pain and the other symptoms down, so I wanted to let> > everyone out there know how wonderful she is. I saw her at the > Boston> > Children's Hospital at Waltham, if anyone is interested. I think > it's> > important to have a truly caring and compassionate doctor when it> > comes to dealing with this disease.> > > > Anyhow, I'll finish up for now. If anyone has answers to any of my> > questions, it would be great to hear from you, and thank you all for> > all the information you post.> > > > Sydney> > Upstate NY, USA> >> > > > > > > ---------------------------------> It's here! Your new message!> Get new email alerts with the free Toolbar.> Tonikka & Chrischeck out our blogwww.nottynurse.blogspot.com

[Guest guest]

I am currently living in Washington State, WSA. I was born and

raised in Boston, Mass, USA. Good thing too 'cause that is where my

mom accidently found the doctor who saved my sight. My dad had got

a piece of wood in his eye and his work sent him to this doctor. At

the time I was 16 months old and had never opened my eyes. The

doctor had asked what was wrong with me? My parents told him they

didn't know. He asked to examine me and they jumpped at the

chance. The doctor had me in for surgery the next morning where he

stitched my eyes open inside out. It was the start of me being able

to see. I just found a group on myspace. Here's the link:

http://groups.myspace.com/blepharophimosis

I've joinned it and I hope others will soon too. I kinda like it

better than this because you can see posts better (I think

anyways). Have you all heard of anyone else like me who was just

missing the muscles and tendons completely. I also didn't have the

bridge to my nose and my eyes were also far apart.

Thanks for the welcome,

> > > Hi Sydney,

> > > Like yourself my son Marc was the first in both families to

have

> > > Blephs, but he was the most loved and loving little boy with

lot's

> > of

> > > friends he's the same as an adult,he never let it get him down

or

> > > stop him doing anything,It's just how he was born! he is

married

> > with

> > > two Children who is two who has not got Blephs and Alfie

6

> > > month who has, but Like his daddy is so loved and such a happy

> > baby.

> > > >

> > > June x Warrington (UK)

> > >

> > > > Hi everyone,

> > > >

> > > > I've been reading the posts about BPES being passed through

> > parents'

> > > > genes, and I come from a family where absolutely nobody has

it,

> > not

> > > my

> > > > parents or aunts or uncles or grandparents. Is it more

common to

> > get

> > > > BPES from your parents or just randomly? I know when my

mother

> > was

> > > > researching this many years ago, it came up that it's

impossible

> > to

> > > > have a child with BPES if neither parent has it, but

obviously

> > it's

> > > > not true because I exist. Is there anyone else with BPES who

has

> > no

> > > > family members with the disorder?

> > > >

> > > > Also, I was wondering about POF. I'm only 23 and the

prospect of

> > > > having POF and early menopause is terrifying to me. What are

the

> > > > statistics when it comes to who gets POF and who doesn't?

> > > Personally,

> > > > having children has never been of great interest to me

(partially

> > > > because I really don't want to pass BPES on - it's been a

> > horrible

> > > > thing in my life) so I never thought about it, but after

reading

> > > these

> > > > posts about POF, I realize that I might never have the

option of

> > > > having kids. I was trying to find out how to get tested for

it,

> > and

> > > I

> > > > read that you can get blood tests, but will it show up that I

> > will

> > > > have POF in the future if I'm not being affected by it now?

I'm

> > just

> > > > curious if anyone knows. I tried to do some research on my

own

> > but

> > > it

> > > > was all kind of confusing, and upsetting.

> > > >

> > > > I know I don't post often at all in this forum, but I do

read the

> > > > posts every day. I posted a while back when I joined the site

> > > because

> > > > I was trying to find a doctor who could help me. Somebody

> > directed

> > > me

> > > > to Boston Children's Hospital, to Dr. , and I was

> > referred

> > > by

> > > > him to a Dr. Elliot. While the visit didn't produce any

amazing

> > > > solutions to my many problems, Dr. Elliot was absolutely

> > wonderful.

> > > I

> > > > was hoping that I could have surgeries to help with my eye

> > > infections

> > > > and the daily problems I experience from BPES, but the most

she

> > > could

> > > > do was reverse the surgeries I've had, which would leave me

with

> > > > nearly closed eyes and skin grafts from a cadaver. I ended

up in

> > her

> > > > office crying for what seemed like forever, but she didn't

rush

> > me

> > > out

> > > > or anything. She did everything she could to really help me

find

> > > ways

> > > > to keep the pain and the other symptoms down, so I wanted to

let

> > > > everyone out there know how wonderful she is. I saw her at

the

> > > Boston

> > > > Children's Hospital at Waltham, if anyone is interested. I

think

> > > it's

> > > > important to have a truly caring and compassionate doctor

when it

> > > > comes to dealing with this disease.

> > > >

> > > > Anyhow, I'll finish up for now. If anyone has answers to any

of

> > my

> > > > questions, it would be great to hear from you, and thank you

all

> > for

> > > > all the information you post.

> > > >

> > > > Sydney

> > > > Upstate NY, USA

> > > >

> > >

> > >

> > >

> > >

> > >

> > >

> > > ---------------------------------

> > > It's here! Your new message!

> > > Get new email alerts with the free Toolbar.

> > >

> >

> >

> >

>

>

> Tonikka & Chris

> check out our blog

> www.nottynurse.blogspot.com

>

>

> 

>

[Guest guest]

Hi So great to hear your story and great to hear you have two beautiful daughters, I saw pictures of them in 'my space'. Our daughter Holly is two years old now and has BPES. When you described yourself with no bridge of the nose and eyes wide apart it seemed like you were describing Holly. Holly has no muscle in the eyelid and uses the muscle in her forehead to open her eyes. This is the same for all Blepharophimosis cases, I believe. She could only open her eyes slightly but had an operation last September to lift the eyelids up temporarily before they use muscle from her leg aged approx 4 years, when her leg is long enough. Before that she used to tilt her head so she could see properly. It sounds like you were very similiar to Holly as a baby but as we were very fortunate to see a specalist when Holly was a few months old it has made a difference earlier. Apparantly BPES can appear

in different strains where some people do not need surgery but some can only open their eyes slightly, some not at all. Everyone is different. Some babies on this website have had surgery at a few months old to enable them to see. I hope this information helps, take care Lucy xx, hampshire UK mrslittleeyes <mrslittleeyes@...> wrote: Hello everyone, My name is and I've just discovered this group. I am

30 years old. I was born with Blepharophimosis and also a bunch of other eye and facial related defects. In my case it was passed from my grandfather (only had one eye affected with it) tom my dad and my uncle. My dad passed it to me. I however, had it much, much worse than anyone else in my family and as far as I've been told by doctors they have never seen a case as bad as mine. I was actually missing the muscles and tendons that open and close your eyelids. My parents took me from doctor to doctor and no one would listen to them. Unfortunately because this is pretty rare not too many doctors know about it or what it is. I in fact have never found another doctor who has even heard of it. I have had about 18 surgeries on my face and eyes as a child. Around the age of 6 or 7 I had a muscle and tendon transplated from my leg into my face. Although the muscle suceeded in lifting my eyelids a bit they are still very

weak. I was legaly blind until age 17. I still don't have anywhere near perfect vision. In my right eye with my glasses I am at 20/40 and my left eye is almost completely blind with my glasses. The poor vision was due to the fact that for the first 7 years of my life my eyes were completely closed. My brain never learned how to see. I have also experienced infertility due to BPES. I don't know if anyone here has heard about that or not? It usually affects women causing their ovaries to fail at a very young age. I didn't even get my first period until I was almost 17 and then it stopped at age 20. My husband and I have been married for 7 years and have never used any form of birth control and I've never become pregnant. We have adopted 2 little girls. I am glad because although I feel that being born this way has in the end made me a much better and stronger person I also didn't want to watch my child go through it. If

I ever did get pregnant I most certainly would be excited and welcome the child with open arms. IF the child had BPES than it would be okay and I'd at least know from what I went through how to help the child. I am so glad that I have actually found a group where others know what it is like. I've never met anyone other than my dad and uncle to have it. Plese if anyone wants to talk more to me please e-mail me at love2adoptcomcast (DOT) netThanks so much.> Hi Sydney,> Like yourself my son Marc was the first in both families to have > Blephs, but he was the most loved and loving little boy with lot's of > friends he's the same as an adult,he never let it get him down or > stop him doing anything,It's just how he was born! he is married with > two Children who is two who has not got Blephs and Alfie 6 > month who has, but Like his daddy is so loved and such a happy baby. > >> June x Warrington (UK)> > > Hi everyone,> > > > I've been

reading the posts about BPES being passed through parents'> > genes, and I come from a family where absolutely nobody has it, not > my> > parents or aunts or uncles or grandparents. Is it more common to get> > BPES from your parents or just randomly? I know when my mother was> > researching this many years ago, it came up that it's impossible to> > have a child with BPES if neither parent has it, but obviously it's> > not true because I exist. Is there anyone else with BPES who has no> > family members with the disorder?> > > > Also, I was wondering about POF. I'm only 23 and the prospect of> > having POF and early menopause is terrifying to me. What are the> > statistics when it comes to who gets POF and who doesn't? > Personally,> > having children has never been of great interest to me (partially> >

because I really don't want to pass BPES on - it's been a horrible> > thing in my life) so I never thought about it, but after reading > these> > posts about POF, I realize that I might never have the option of> > having kids. I was trying to find out how to get tested for it, and > I> > read that you can get blood tests, but will it show up that I will> > have POF in the future if I'm not being affected by it now? I'm just> > curious if anyone knows. I tried to do some research on my own but > it> > was all kind of confusing, and upsetting.> > > > I know I don't post often at all in this forum, but I do read the> > posts every day. I posted a while back when I joined the site > because> > I was trying to find a doctor who could help me. Somebody directed > me> > to Boston Children's Hospital, to

Dr. , and I was referred > by> > him to a Dr. Elliot. While the visit didn't produce any amazing> > solutions to my many problems, Dr. Elliot was absolutely wonderful. > I> > was hoping that I could have surgeries to help with my eye > infections> > and the daily problems I experience from BPES, but the most she > could> > do was reverse the surgeries I've had, which would leave me with> > nearly closed eyes and skin grafts from a cadaver. I ended up in her> > office crying for what seemed like forever, but she didn't rush me > out> > or anything. She did everything she could to really help me find > ways> > to keep the pain and the other symptoms down, so I wanted to let> > everyone out there know how wonderful she is. I saw her at the > Boston> > Children's Hospital at Waltham, if anyone is

interested. I think > it's> > important to have a truly caring and compassionate doctor when it> > comes to dealing with this disease.> > > > Anyhow, I'll finish up for now. If anyone has answers to any of my> > questions, it would be great to hear from you, and thank you all for> > all the information you post.> > > > Sydney> > Upstate NY, USA> >> > > > > > > ---------------------------------> It's here! Your new message!> Get new email alerts with the free Toolbar.>

Messenger - with free PC-PC calling and photo sharing.

[Guest guest]

Hi Lucy. yeah I have talked to so many people in the past few days that I can't remember who I've talked to and what I've said to each so if I repeat myself please forgive me. It is great that your daughter was able to see a doctor about it so early on. My vision has really suffered because of my late treatment. I had the first surgery at 16 months and by then a whole lot of damage had been done. Not everyone is missing the muscle. My dad, uncle and grandfather all have BPES but they all had the muscle. My grandfather also only had it in one eye (or at least that is what we think) He died when my dad was 16 so we aren't 100% sure about it. We are just going on pictures of him and the little bit we've been able to trace back. He is also the first one in the family with it as far as we can tell. My dad came next and had it in both eyes. He only had 2 surgeries and his eyes

were pretty much fixed. He does not have perfect vision but it's good enough that he shoots guns perfectly and can drive without his glasses. My uncle is not so fortunate as my dad. He can't drive and his eyes cosmetically look much worse than my dad. With my uncle I don't know if he is missing the muscles or not. They actually took his eyelids and flipped them up inside out and sewed them like that. Maybe he was missing the muscle and that is why the treatment that worked for my dad didn't work for him. Anyways I've had about 18 surgeries and I found in a medical record that I actually had the muscle taken from my leg on August 5, 1984, which was 8 days after I turned 5 yrs old. I wanted to mention to you about the effects of POF. Since you have a little girl. I'm not sure if they are able to tell you yet if she has Type 1 or 2, if she will have POF or not. The first sign for me that something was wrong was

that I didn't get my first period until I was 17 and then at age 20 they pretty much stopped. I would have 1 or 2 very, very light ones per year. Now I have like maybe a spot or two once a year. I am taking estrogen and if I don't take it then I don't even have a spot. The thing that I wanted to make sure you check out for your little girl is that if it turns out that she does have type 1 and will develop POF be sure to get her started early on some type of HRT (Hormone Replacement Therapy). I should have started taking the estrogen at like 19 or 20. Because I didn't get on it until much later I now have early Osteoporosis. I have a friend who has no ovaries due to a different birth defect and she too has Osteoporosis. I have a DEXA (bone) scan every other year to keep up with it. My doctors say that if this next one shows anymore bone loss than I will have to start taking an Osteoporosis drug to try and hault the bone

loss. I could break a bone at any time now. Anyways I've got to go for now but it sure is nice to meet others like me. I am finding that there are people from all over the world here. I have attached a few pictures of me as a child. One is when I was 7, another from when I was 5 and the last is when I was about 18 months old just after my first surgery. As you can see I am tilting my head back just like you said your daughter does. Talk to you soon, Lucy Chidgey <lcgosport@...> wrote: Hi So great to hear your story and great to hear you have two beautiful daughters, I saw pictures of them in 'my space'. Our daughter Holly is two years old now and has BPES. When you described yourself with no bridge of the nose and eyes wide apart it seemed like you were describing Holly. Holly has no muscle in the eyelid and uses the muscle in her forehead to open her eyes. This is the same for all Blepharophimosis cases, I believe. She could only open her eyes slightly but had an operation last September to lift the eyelids up temporarily before they use muscle from her leg aged approx 4 years, when her leg is long enough. Before that she used to tilt her head so she could see properly. It sounds like you were very similiar to Holly as a baby but as we were very

fortunate to see a specalist when Holly was a few months old it has made a difference earlier. Apparantly BPES can appear in different strains where some people do not need surgery but some can only open their eyes slightly, some not at all. Everyone is different. Some babies on this website have had surgery at a few months old to enable them to see. I hope this information helps, take care Lucy xx, hampshire UK mrslittleeyes <mrslittleeyes > wrote: Hello everyone, My name is and I've just discovered this group. I am 30 years old. I was born with Blepharophimosis and also a bunch of other eye and facial related defects. In my case it was passed from my grandfather (only had one eye affected

with it) tom my dad and my uncle. My dad passed it to me. I however, had it much, much worse than anyone else in my family and as far as I've been told by doctors they have never seen a case as bad as mine. I was actually missing the muscles and tendons that open and close your eyelids. My parents took me from doctor to doctor and no one would listen to them. Unfortunately because this is pretty rare not too many doctors know about it or what it is. I in fact have never found another doctor who has even heard of it. I have had about 18 surgeries on my face and eyes as a child. Around the age of 6 or 7 I had a muscle and tendon transplated from my leg into my face. Although the muscle suceeded in lifting my eyelids a bit they are still very weak. I was legaly blind until age 17. I still don't have anywhere near perfect vision. In my right eye with my glasses I am at 20/40 and my left eye is almost completely blind with

my glasses. The poor vision was due to the fact that for the first 7 years of my life my eyes were completely closed. My brain never learned how to see. I have also experienced infertility due to BPES. I don't know if anyone here has heard about that or not? It usually affects women causing their ovaries to fail at a very young age. I didn't even get my first period until I was almost 17 and then it stopped at age 20. My husband and I have been married for 7 years and have never used any form of birth control and I've never become pregnant. We have adopted 2 little girls. I am glad because although I feel that being born this way has in the end made me a much better and stronger person I also didn't want to watch my child go through it. If I ever did get pregnant I most certainly would be excited and welcome the child with open arms. IF the child had BPES than it would be okay and I'd at least know from what I went

through how to help the child. I am so glad that I have actually found a group where others know what it is like. I've never met anyone other than my dad and uncle to have it. Plese if anyone wants to talk more to me please e-mail me at love2adoptcomcast (DOT) netThanks so much.> Hi Sydney,> Like yourself my son Marc was the first in both families to have > Blephs, but he was the most loved and loving little boy with lot's of > friends he's the same as an adult,he never let it get him down or > stop him doing anything,It's just how he was born! he is married with > two Children who is two who has not got Blephs and Alfie 6 > month who has, but Like his daddy is so loved and such a happy baby. > >> June x Warrington (UK)> > > Hi everyone,> > > > I've been reading the posts about BPES being passed through parents'> > genes, and I come from a family where absolutely nobody has it, not > my> > parents or aunts

or uncles or grandparents. Is it more common to get> > BPES from your parents or just randomly? I know when my mother was> > researching this many years ago, it came up that it's impossible to> > have a child with BPES if neither parent has it, but obviously it's> > not true because I exist. Is there anyone else with BPES who has no> > family members with the disorder?> > > > Also, I was wondering about POF. I'm only 23 and the prospect of> > having POF and early menopause is terrifying to me. What are the> > statistics when it comes to who gets POF and who doesn't? > Personally,> > having children has never been of great interest to me (partially> > because I really don't want to pass BPES on - it's been a horrible> > thing in my life) so I never thought about it, but after reading > these> > posts about

POF, I realize that I might never have the option of> > having kids. I was trying to find out how to get tested for it, and > I> > read that you can get blood tests, but will it show up that I will> > have POF in the future if I'm not being affected by it now? I'm just> > curious if anyone knows. I tried to do some research on my own but > it> > was all kind of confusing, and upsetting.> > > > I know I don't post often at all in this forum, but I do read the> > posts every day. I posted a while back when I joined the site > because> > I was trying to find a doctor who could help me. Somebody directed > me> > to Boston Children's Hospital, to Dr. , and I was referred > by> > him to a Dr. Elliot. While the visit didn't produce any amazing> > solutions to my many problems, Dr. Elliot was

absolutely wonderful. > I> > was hoping that I could have surgeries to help with my eye > infections> > and the daily problems I experience from BPES, but the most she > could> > do was reverse the surgeries I've had, which would leave me with> > nearly closed eyes and skin grafts from a cadaver. I ended up in her> > office crying for what seemed like forever, but she didn't rush me > out> > or anything. She did everything she could to really help me find > ways> > to keep the pain and the other symptoms down, so I wanted to let> > everyone out there know how wonderful she is. I saw her at the > Boston> > Children's Hospital at Waltham, if anyone is interested. I think > it's> > important to have a truly caring and compassionate doctor when it> > comes to dealing with this disease.> > >

> Anyhow, I'll finish up for now. If anyone has answers to any of my> > questions, it would be great to hear from you, and thank you all for> > all the information you post.> > > > Sydney> > Upstate NY, USA> >> > > > > > > ---------------------------------> It's here! Your new message!> Get new email alerts with the free Toolbar.> Messenger - with free PC-PC calling and photo sharing.

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