Re: 48hrs to infertility

[Guest guest]

Hi

It is not often that I reply to messages here, I am normally a reader, but

your message confused me so I thought I would reply.

I have BPES as do a vast number of my family. I was lucky enough to have

a happy ?accident? when I was 23 resulting in my beautiful daughter (I say

lucky as I now have POF) and although I was concerned about passed BPES on

it was never a major issue. BPES did not ruin my childhood so I never deemed

it ?unfair? to pass on.

There are so many parents here with children who have BPES and they have

?normal? childhoods; I do not think that it is a moral challenge whether

to have your own biological children if you can. BPES is not a life threatening

condition and there is so much information available now surely it must be

easier then 25 years ago when I had my ops.

I am not saying your opinions are wrong, but I personally can not see that

one has to make a choice about passing on BPES it's not a terrible condition.

Good luck with your results.

B

>-- Original Message --

>blepharophimosis

>From: " cberator " <cbspam@...>

>Date: Tue, 13 Feb 2007 06:28:04 -0000

>Subject: blepharophimosis 48hrs to infertility

>Reply-blepharophimosis

>

>

>Hi all,

>

>I am writing to the group tonight as I wait for the results of my

>infertility evaluation which was sent this morning. Like some women

>who have posted to this list, most days I forget that I have BPES.

>It actually doesn't impact my life much at all. The 3 surgeries I

>had as a kid are long forgotten. But at the same time, the impact it

>had on my childhood and adolescence is still with everyday. As a

>pediatrician specializing in adolescents, I think I partially chose

>my current career because of my sensitivity to the challenges of body

>image and growing up different. But interestingly, I rarely allow

>myself to connect with those feelings as they are too painful to

>remember on a daily basis.

>

>Unlike the young girls with BPES today, we didn't have

>cryopreservation of ovaries or early detection of POF when I was

>younger. In fact, I was never even counseled on the fertility

>implications of BPES. I learned about it when I started medical

>school at age 24 at which point I was already not having periods

>anymore. Little did I know at that time that my ovaries might have

>been on the way out. No one ever offered reproductive endocrinology

>evaluation, not even when I went to see my opthalmologist at age 22.

>

>But like many young women with BPES, I also struggle with the

>question of whether to knowingly have a child with BPES when it is

>possible to choose an egg donor instead. Is it ethical to have a

>child with a genetic condition when you could choose otherwise? On

>the other hand, having BPES gave me so many gifts in terms of self-

>reliance and enhanced sensitvity. Though I am pretty sure that my

>FSH will be high and Type 1 BPES will be the answer, I have to

>honestly say that part of me will be relieved. I am not sure I could

>make the choice of whether to have a child with BPES or not.

>

>Thanks for allowing me to rant - would be very interested to hear

>from other women about their choice to have a child with BPES, or go

>with egg donor - regardless of fertility issues.

>

>Sincerely,

>

>CBJ

>

___________________________________________________________

Tiscali Broadband only 9.99 a month for your first 3 months!

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[Guest guest]

Hi There,

I have read your message a few times, and wasn't sure what to reply, as I had a flood of emotions when I read your post.

I have an 8month old daughter with BPES and we are also waiting for her test results to see which type she has, to understand what the implications are. I also have a son aged 6yrs that doesn't have BPES. I can tell you, hand on heart, my feelings towards my son and daughter are the same, they are both beautiful, amazing children, whom have completed my life and made it very special. I was so thrilled after 6 years to have a new baby, and especially a girl! She is just fabulous! Of course when she was born I was worried sick there was something wrong with her eyes, and getting her diagnosed was a long worrying process, but it never took from the joy our little girl has brought us. Interestingly, the geneticist that told us has BPES advised us not to have any more children until her results of which type came back. I was surprised when he said

that, because, when you see what children can be born with, BPES is nothing! I would have 100 babies with BPES over some of the illnesses that some poor little babies have. is not sick, she is beautiful, happy, healthy little girl - who just happens to have, as my 6yr old says 'Special eyes' which since her sling surgery, he also says 'Are all better now'

I of course don't want to dismiss your experience or feelings, which I am so sorry to hear about. I am praying for good news for you, and as you say, there are new medical advancements in the POF area today, that can work amazing results. I would appreciate it if you could explain why BPES had such a bad affect to your childhood and adolecence? Maybe I am being naieve to think will not have issues growing up with BPES... I hope not, but I'd appreciate your advice.

Take care,

Kildare, Ireland

blepharophimosis 48hrs to infertility

Hi all,I am writing to the group tonight as I wait for the results of my infertility evaluation which was sent this morning. Like some women who have posted to this list, most days I forget that I have BPES. It actually doesn't impact my life much at all. The 3 surgeries I had as a kid are long forgotten. But at the same time, the impact it had on my childhood and adolescence is still with everyday. As a pediatrician specializing in adolescents, I think I partially chose my current career because of my sensitivity to the challenges of body image and growing up different. But interestingly, I rarely allow myself to connect with those feelings as they are too painful to remember on a daily basis. Unlike the young girls with BPES today, we didn't have cryopreservation of ovaries or early detection of POF when I was younger. In fact, I was never even counseled on the fertility implications of BPES. I learned

about it when I started medical school at age 24 at which point I was already not having periods anymore. Little did I know at that time that my ovaries might have been on the way out. No one ever offered reproductive endocrinology evaluation, not even when I went to see my opthalmologist at age 22.But like many young women with BPES, I also struggle with the question of whether to knowingly have a child with BPES when it is possible to choose an egg donor instead. Is it ethical to have a child with a genetic condition when you could choose otherwise? On the other hand, having BPES gave me so many gifts in terms of self-reliance and enhanced sensitvity. Though I am pretty sure that my FSH will be high and Type 1 BPES will be the answer, I have to honestly say that part of me will be relieved. I am not sure I could make the choice of whether to have a child with BPES or not.Thanks for allowing me to rant -

would be very interested to hear from other women about their choice to have a child with BPES, or go with egg donor - regardless of fertility issues.Sincerely,CBJ

Send instant messages to your online friends http://uk.messenger.

[Guest guest]

Hi

I have a 5 month old daughter samantha who was born with Bleph, she is the 2nd one in the family to be born with this her daddy was the first i have concern for her because she is a girl and i was just wondering about finding out which type she has I have no clue which doctor to take her to should she see her eye doctor or our family doctor? Also what does this test intale is it just a blood test or is it something else? also can i have it done at 5 months? if anyone knows the answer to these questions it will be very helpful. I worry about my daughter not being able to have children just about everyday and she is only 5 months old. I want more children but at this point i only want boys because they don't have to worry about not being able to have children and i think for a lttle girl to be told that she can't have children is awful, but this will not stop me from having more babies because i love everything about being mommy.

Ohio

________________________________________________________________________

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[Guest guest]

Hello

I want to thank you for your message and your candor. I have BPES and

I feel much like you do, except that I went ahead and had a child.

And she has BPES, and we probably both are type 1. There is a part of

me that hurts to hear someone else say they don't want any kids who

have BPES, because I most certainly want my child. However, I would

be thrilled if she didn't have it, or if I could have another child

knowing that they didn't have it.

Honestly, POF is sad but it's much less of a problem than BPES. Lots

of people have infertility and there are constantly new treatments.

I have thought about egg donors but that isn't exactly easy or a

guaranteed procedure.

I have much to say, but will try to write more after i think about

it.

No one told me about POF either, I was 34 when I found out about it.

--- In blepharophimosis , " cberator " <cbspam@...>

wrote:

>

> Hi all,

>

> I am writing to the group tonight as I wait for the results of my

> infertility evaluation which was sent this morning. Like some

women

> who have posted to this list, most days I forget that I have BPES.

> It actually doesn't impact my life much at all. The 3 surgeries I

> had as a kid are long forgotten. But at the same time, the impact

it

> had on my childhood and adolescence is still with everyday. As a

> pediatrician specializing in adolescents, I think I partially chose

> my current career because of my sensitivity to the challenges of

body

> image and growing up different. But interestingly, I rarely allow

> myself to connect with those feelings as they are too painful to

> remember on a daily basis.

>

> Unlike the young girls with BPES today, we didn't have

> cryopreservation of ovaries or early detection of POF when I was

> younger. In fact, I was never even counseled on the fertility

> implications of BPES. I learned about it when I started medical

> school at age 24 at which point I was already not having periods

> anymore. Little did I know at that time that my ovaries might have

> been on the way out. No one ever offered reproductive

endocrinology

> evaluation, not even when I went to see my opthalmologist at age 22.

>

> But like many young women with BPES, I also struggle with the

> question of whether to knowingly have a child with BPES when it is

> possible to choose an egg donor instead. Is it ethical to have a

> child with a genetic condition when you could choose otherwise? On

> the other hand, having BPES gave me so many gifts in terms of self-

> reliance and enhanced sensitvity. Though I am pretty sure that my

> FSH will be high and Type 1 BPES will be the answer, I have to

> honestly say that part of me will be relieved. I am not sure I

could

> make the choice of whether to have a child with BPES or not.

>

> Thanks for allowing me to rant - would be very interested to hear

> from other women about their choice to have a child with BPES, or

go

> with egg donor - regardless of fertility issues.

>

> Sincerely,

>

> CBJ

>

[Guest guest]

Hi again,

Thanks to everyone for their interesting responses.

A few clarifications on my earlier email:

1) I had a great childhood growing up with BPES. I was a bright,

loved child who thrived and had every advantage. I don't want to

scare the young parents who emailed me about their daughters into

thinking that it's an awful thing. As I said in my first email, BPES

enhanced my life more than it hindered it. Having something that made

me different ultimately made me stronger and more self reliant. With

that said, and I am speaking from my own experience, it was very hard

to be a teenager and look different. I was teased, I had low self

esteem for a long time, and it was a long time before I was able to be

confident enough to start dating. High school was very difficult for

me socially and I really think it was because I had very low self

esteem. I think it's important to be honest about these feelings so

that we can find a way to help young people with this issue.

2) Thanks for the encouraging words from women who were able to get

pregnant despite having Type 1. I should clarify my earlier posting

just to say that I am mostly upset (despite being a pediatrician!)

that I wasn't informed earlier of the urgency to get pregnant. I am

now 31 and if I now have POF, I will regret not getting pregnant

earlier (I have been with my husband since we were 21). Mostly I am

upset at myself for not doing more research myself. Though my doctors

never told me, that's not their fault. I should have done my own

research.

3) Someone asked a specific question about the genetic test. I am not

sure where to get it (there are many posts about this in earlier

emails), but you can ask your genetics doctor for information on the

FOXL2 test. Since I have not had it myself, I don't know where to

obtain it. Perhaps others can help?

4) As for the ethical decision regarding knowingly having a child

with a genetic disease, I can see every side of the multiple emails I

have received. As a pediatrician, I have certainly seen hundreds of

children with much more severe conditions than BPES. Of course it is

not an awful thing to have it! Let's face it - I have thrived mostly

because I was 'different' and likely became a doctor because of my

BPES. But, then there is the emotional side of knowingly passing on

something that will make your child's life harder in some way.

Basically, what I was saying in my email is that if I have POF and

can't get pregnant I will be relieved that I don't have to make that

decision. That's all.

Thanks for all your supportive emails! No results yet, but they will

likely be back in the next couple of days.

CBJ

[Guest guest]

Hi! I am VERY much a lurker on this site, I have BPES and could have written your exact letter ...except I am travel agent not a dr...lol!

When we discovered I have POF about 5 yrs ago, we opted against donor egg and went with adoption to grow our family.

Then, the specialist we were going to said donor egg was our only option. Have things changed any in the past few years treatment wise?

Is there any place in USA to get tested for the bloodwork to see what "type" you have?

Just curious! Good luck to you! Thanks for posting! I honestly could have written this word for word! HUGS - Lynette in South Carolina

blepharophimosis 48hrs to infertility

Hi all,I am writing to the group tonight as I wait for the results of my infertility evaluation which was sent this morning. Like some women who have posted to this list, most days I forget that I have BPES. It actually doesn't impact my life much at all. The 3 surgeries I had as a kid are long forgotten. But at the same time, the impact it had on my childhood and adolescence is still with everyday. As a pediatrician specializing in adolescents, I think I partially chose my current career because of my sensitivity to the challenges of body image and growing up different. But interestingly, I rarely allow myself to connect with those feelings as they are too painful to remember on a daily basis. Unlike the young girls with BPES today, we didn't have cryopreservation of ovaries or early detection of POF when I was younger. In fact, I was never even counseled on the fertility implications of BPES. I learned about it when I started medical school at age 24 at which point I was already not having periods anymore. Little did I know at that time that my ovaries might have been on the way out. No one ever offered reproductive endocrinology evaluation, not even when I went to see my opthalmologist at age 22.But like many young women with BPES, I also struggle with the question of whether to knowingly have a child with BPES when it is possible to choose an egg donor instead. Is it ethical to have a child with a genetic condition when you could choose otherwise? On the other hand, having BPES gave me so many gifts in terms of self-reliance and enhanced sensitvity. Though I am pretty sure that my FSH will be high and Type 1 BPES will be the answer, I have to honestly say that part of me will be relieved. I am not sure I could make the choice of whether to have a child with BPES or not.Thanks for allowing me to rant - would be very interested to hear from other women about their choice to have a child with BPES, or go with egg donor - regardless of fertility issues.Sincerely,CBJ

[Guest guest]

I was born with BPES and so was my dad and grandfather and my 2.5 yr

old daughter.

The best thing I ever did (concerning BPES) was visit a genetics

counselor. I learned so much about BPES and was so reassured and

encouraged. I saw DR. Rosenbaum at children's hospital in Washington

DC. If you have these questions, you might consider finding a

genetics counselor in your area. I plan to visit Dr. Rosenbaum again

this year for any updates, etc., It was much more meaningful hearing

it explained by him. I thought it wasn't something I really needed to

do, but I was wrong, it really helped my level of understanding and

acceptance, and you see, in my opinion, that is key if I want my

daughter to feel good about herself.

I just want to say , the news is filled with stories of 60 yr old

women having children, of course no one is to say a little girl will

never be a mom, and there are many ways to become a mom if desired.

One thing I enjoy on this board are the stories of how families are

made, through births, adoption, blended families, IVF, surrogacy, egg

donors, foster parents. All of these stories are so wonderful to me.

--- In blepharophimosis , " hbarga@... " <hbarga@...>

wrote:

>

> Hi

> I have a 5 month old daughter samantha who was born with Bleph, she

is the 2nd one in the family to be born with this her daddy was the

first i have concern for her because she is a girl and i was just

wondering about finding out which type she has I have no clue which

doctor to take her to should she see her eye doctor or our family

doctor? Also what does this test intale is it just a blood test or is

it something else? also can i have it done at 5 months? if anyone

knows the answer to these questions it will be very helpful. I worry

about my daughter not being able to have children just about everyday

and she is only 5 months old. I want more children but at this point

i only want boys because they don't have to worry about not being

able to have children and i think for a lttle girl to be told that

she can't have children is awful, but this will not stop me from

having more babies because i love everything about being mommy.

>

>

> Ohio

>

>

>

>

______________________________________________________________________

__

> Interested in getting caught up on today's news?

> Click here to checkout USA TODAY Headlines.

> http://track.juno.com/s/lc?

s=198954 & u=http://www.usatoday.com/news/front.htm?csp=24

>

[Guest guest]

--- In blepharophimosis , " cberator " <cbspam@...>

wrote:

Hi,

I'd like to say that I totally understand where you're coming from.

I am 31, and have POF. I too did not know about the fertility issues

associated with BPES until very recently when we began trying for a

baby. I haven't really being diagnosed with type 1 or 2, however, I

have made the assumption that I must have type 1 as I have a high FSH

level, and very few periods. If I had have known about the risks of

POF, I would have started a family earlier. My FSH levels were

normal last Jan, and I am finding it difficult to come to terms with

the fact that I might be infertile. I haven't given up just yet

though. I am about to try a Natural Cycle IVF cycle, they have put

me on the pill for a couple of months in the hope that it might kick

start my ovaries, I'm not holding out much hope, but it's better than

nothing. I will let the group know how I get on. The clinic I am

under don't even know what BPES is (I didn't know much untill a month

ago when I started researching), and aren't interested, as far as

they are concerned I have high FSH levels and few periods, which is

suggestive of POF! If this fails, I will look at other options.

If I were to have my own biological child, then I would be overjoyed,

if it had BPES or not. Having said that, if I can't and have to

consider egg donation, then one of the positives would be that I

wouldn't pass it on, that is the only positive though, so I think I

understand what you were talking about. Having BPES really has had

little negative impact on my life either, in fact I am often told how

attractive I am (I don't mean to sound big headed!) People just think

I am half oriental. I too was teased at school, but the other kids

got to know me, and it wasn't an issue. I had surgery, which did

improve my appearence, which did help. If anyone reads this who has

children with BPES, I would like them to know it really wasn't a

negative thing for me.

The only way in which it has become a problem for me now is the

fertility issue. But to parents reading this, for warned is for

armed, and POF does not mean that you are infertile straight away, so

your daughters can make infomred choices about their futures, with

regards to family planning. I struggle with not findoing this out

earlier, it's like having the winning lottery ticket, and not cashing

it in on time!

As I say, I haven't given up yet

best wishes,

Abbie

>

> Hi again,

>

> Thanks to everyone for their interesting responses.

>

> A few clarifications on my earlier email:

>

> 1) I had a great childhood growing up with BPES. I was a bright,

> loved child who thrived and had every advantage. I don't want to

> scare the young parents who emailed me about their daughters into

> thinking that it's an awful thing. As I said in my first email,

BPES

> enhanced my life more than it hindered it. Having something that

made

> me different ultimately made me stronger and more self reliant.

With

> that said, and I am speaking from my own experience, it was very

hard

> to be a teenager and look different. I was teased, I had low self

> esteem for a long time, and it was a long time before I was able to

be

> confident enough to start dating. High school was very difficult

for

> me socially and I really think it was because I had very low self

> esteem. I think it's important to be honest about these feelings so

> that we can find a way to help young people with this issue.

>

> 2) Thanks for the encouraging words from women who were able to get

> pregnant despite having Type 1. I should clarify my earlier posting

> just to say that I am mostly upset (despite being a pediatrician!)

> that I wasn't informed earlier of the urgency to get pregnant. I am

> now 31 and if I now have POF, I will regret not getting pregnant

> earlier (I have been with my husband since we were 21). Mostly I am

> upset at myself for not doing more research myself. Though my

doctors

> never told me, that's not their fault. I should have done my own

> research.

>

> 3) Someone asked a specific question about the genetic test. I am

not

> sure where to get it (there are many posts about this in earlier

> emails), but you can ask your genetics doctor for information on the

> FOXL2 test. Since I have not had it myself, I don't know where to

> obtain it. Perhaps others can help?

>

> 4) As for the ethical decision regarding knowingly having a child

> with a genetic disease, I can see every side of the multiple emails

I

> have received. As a pediatrician, I have certainly seen hundreds of

> children with much more severe conditions than BPES. Of course it

is

> not an awful thing to have it! Let's face it - I have thrived

mostly

> because I was 'different' and likely became a doctor because of my

> BPES. But, then there is the emotional side of knowingly passing on

> something that will make your child's life harder in some way.

> Basically, what I was saying in my email is that if I have POF and

> can't get pregnant I will be relieved that I don't have to make that

> decision. That's all.

>

> Thanks for all your supportive emails! No results yet, but they

will

> likely be back in the next couple of days.

>

> CBJ

>

[Guest guest]

Thanks for your message, I feel much the way you do.

I wanted to say that if you are going through IVF, are you going to

get pre implantation diagnosis for BPES? I am curious because it's

something I have thought about.

I have one daughter, who does have BPES, I do have some signs of POF.

Anyway, BPES hasn't been a big issue for me, at least not for a long

time, until my daughter was born with it. I think that's the worst

things about it, is that it is autosomal dominant. But my daughter is

doing okay and she is only 2.5 and will soon have canthioplasty and I

am praying for a good experience and good outcome.

I wish you all the best and luck with your attempts at pregnancy.

Beth and Lily

>

> Hi,

> I'd like to say that I totally understand where you're coming

from.

> I am 31, and have POF. I too did not know about the fertility

issues

> associated with BPES until very recently when we began trying for a

> baby. I haven't really being diagnosed with type 1 or 2, however,

I

> have made the assumption that I must have type 1 as I have a high

FSH

> level, and very few periods. If I had have known about the risks of

> POF, I would have started a family earlier. My FSH levels were

> normal last Jan, and I am finding it difficult to come to terms

with

> the fact that I might be infertile. I haven't given up just yet

> though. I am about to try a Natural Cycle IVF cycle, they have put

> me on the pill for a couple of months in the hope that it might

kick

> start my ovaries, I'm not holding out much hope, but it's better

than

> nothing. I will let the group know how I get on. The clinic I am

> under don't even know what BPES is (I didn't know much untill a

month

> ago when I started researching), and aren't interested, as far as

> they are concerned I have high FSH levels and few periods, which is

> suggestive of POF! If this fails, I will look at other options.

>

> If I were to have my own biological child, then I would be

overjoyed,

> if it had BPES or not. Having said that, if I can't and have to

> consider egg donation, then one of the positives would be that I

> wouldn't pass it on, that is the only positive though, so I think I

> understand what you were talking about. Having BPES really has had

> little negative impact on my life either, in fact I am often told

how

> attractive I am (I don't mean to sound big headed!) People just

think

> I am half oriental. I too was teased at school, but the other kids

> got to know me, and it wasn't an issue. I had surgery, which did

> improve my appearence, which did help. If anyone reads this who has

> children with BPES, I would like them to know it really wasn't a

> negative thing for me.

>

> The only way in which it has become a problem for me now is the

> fertility issue. But to parents reading this, for warned is for

> armed, and POF does not mean that you are infertile straight away,

so

> your daughters can make infomred choices about their futures, with

> regards to family planning. I struggle with not findoing this out

> earlier, it's like having the winning lottery ticket, and not

cashing

> it in on time!

>

> As I say, I haven't given up yet

>

> best wishes,

>

> Abbie

> >

> > Hi again,

> >

> > Thanks to everyone for their interesting responses.

> >

> > A few clarifications on my earlier email:

> >

> > 1) I had a great childhood growing up with BPES. I was a bright,

> > loved child who thrived and had every advantage. I don't want to

> > scare the young parents who emailed me about their daughters into

> > thinking that it's an awful thing. As I said in my first email,

> BPES

> > enhanced my life more than it hindered it. Having something that

> made

> > me different ultimately made me stronger and more self reliant.

> With

> > that said, and I am speaking from my own experience, it was very

> hard

> > to be a teenager and look different. I was teased, I had low self

> > esteem for a long time, and it was a long time before I was able

to

> be

> > confident enough to start dating. High school was very difficult

> for

> > me socially and I really think it was because I had very low self

> > esteem. I think it's important to be honest about these feelings

so

> > that we can find a way to help young people with this issue.

> >

> > 2) Thanks for the encouraging words from women who were able to

get

> > pregnant despite having Type 1. I should clarify my earlier

posting

> > just to say that I am mostly upset (despite being a pediatrician!)

> > that I wasn't informed earlier of the urgency to get pregnant. I

am

> > now 31 and if I now have POF, I will regret not getting pregnant

> > earlier (I have been with my husband since we were 21). Mostly I

am

> > upset at myself for not doing more research myself. Though my

> doctors

> > never told me, that's not their fault. I should have done my own

> > research.

> >

> > 3) Someone asked a specific question about the genetic test. I

am

> not

> > sure where to get it (there are many posts about this in earlier

> > emails), but you can ask your genetics doctor for information on

the

> > FOXL2 test. Since I have not had it myself, I don't know where to

> > obtain it. Perhaps others can help?

> >

> > 4) As for the ethical decision regarding knowingly having a child

> > with a genetic disease, I can see every side of the multiple

emails

> I

> > have received. As a pediatrician, I have certainly seen hundreds

of

> > children with much more severe conditions than BPES. Of course

it

> is

> > not an awful thing to have it! Let's face it - I have thrived

> mostly

> > because I was 'different' and likely became a doctor because of my

> > BPES. But, then there is the emotional side of knowingly passing

on

> > something that will make your child's life harder in some way.

> > Basically, what I was saying in my email is that if I have POF and

> > can't get pregnant I will be relieved that I don't have to make

that

> > decision. That's all.

> >

> > Thanks for all your supportive emails! No results yet, but they

> will

> > likely be back in the next couple of days.

> >

> > CBJ

> >

>

[Guest guest]

Hi all,

I just wanted to give you an update on our status with the lab

results. My FSH is indeed elevated and it looks like we will pursue

egg donor. Thanks for all your support on this journey this week.

Though my husband has been very supportive, there is nothing like

having the support of women who understand what I am going through.

I will continue to post as we begin the process. I am hoping that

others who live in the US may benefit from some of the details

regarding services, complications, etc. that we face.

Thanks again,

CBJ

[Guest guest]

Hi,

If I were to get as far as making an embryo, I wouldn't consider

geting pre implantation diagnosis as knowing it had BPES would not

prevent me from going ahaed with implantation, so there's no point

for me.

I will let you know how I get on though, keep your fingers crossed

for me!

Abbie

-- In blepharophimosis , " bethgordon03 "

<bethgordon03@...> wrote:

>

> Thanks for your message, I feel much the way you do.

>

> I wanted to say that if you are going through IVF, are you going to

> get pre implantation diagnosis for BPES? I am curious because it's

> something I have thought about.

>

> I have one daughter, who does have BPES, I do have some signs of

POF.

> Anyway, BPES hasn't been a big issue for me, at least not for a

long

> time, until my daughter was born with it. I think that's the worst

> things about it, is that it is autosomal dominant. But my daughter

is

> doing okay and she is only 2.5 and will soon have canthioplasty and

I

> am praying for a good experience and good outcome.

>

> I wish you all the best and luck with your attempts at pregnancy.

>

> Beth and Lily

>

>

> >

> > Hi,

> > I'd like to say that I totally understand where you're coming

> from.

> > I am 31, and have POF. I too did not know about the fertility

> issues

> > associated with BPES until very recently when we began trying for

a

> > baby. I haven't really being diagnosed with type 1 or 2,

however,

> I

> > have made the assumption that I must have type 1 as I have a high

> FSH

> > level, and very few periods. If I had have known about the risks

of

> > POF, I would have started a family earlier. My FSH levels were

> > normal last Jan, and I am finding it difficult to come to terms

> with

> > the fact that I might be infertile. I haven't given up just yet

> > though. I am about to try a Natural Cycle IVF cycle, they have

put

> > me on the pill for a couple of months in the hope that it might

> kick

> > start my ovaries, I'm not holding out much hope, but it's better

> than

> > nothing. I will let the group know how I get on. The clinic I am

> > under don't even know what BPES is (I didn't know much untill a

> month

> > ago when I started researching), and aren't interested, as far as

> > they are concerned I have high FSH levels and few periods, which

is

> > suggestive of POF! If this fails, I will look at other options.

> >

> > If I were to have my own biological child, then I would be

> overjoyed,

> > if it had BPES or not. Having said that, if I can't and have to

> > consider egg donation, then one of the positives would be that I

> > wouldn't pass it on, that is the only positive though, so I think

I

> > understand what you were talking about. Having BPES really has

had

> > little negative impact on my life either, in fact I am often told

> how

> > attractive I am (I don't mean to sound big headed!) People just

> think

> > I am half oriental. I too was teased at school, but the other

kids

> > got to know me, and it wasn't an issue. I had surgery, which did

> > improve my appearence, which did help. If anyone reads this who

has

> > children with BPES, I would like them to know it really wasn't a

> > negative thing for me.

> >

> > The only way in which it has become a problem for me now is the

> > fertility issue. But to parents reading this, for warned is for

> > armed, and POF does not mean that you are infertile straight

away,

> so

> > your daughters can make infomred choices about their futures,

with

> > regards to family planning. I struggle with not findoing this

out

> > earlier, it's like having the winning lottery ticket, and not

> cashing

> > it in on time!

> >

> > As I say, I haven't given up yet

> >

> > best wishes,

> >

> > Abbie

> > >

> > > Hi again,

> > >

> > > Thanks to everyone for their interesting responses.

> > >

> > > A few clarifications on my earlier email:

> > >

> > > 1) I had a great childhood growing up with BPES. I was a

bright,

> > > loved child who thrived and had every advantage. I don't want

to

> > > scare the young parents who emailed me about their daughters

into

> > > thinking that it's an awful thing. As I said in my first

email,

> > BPES

> > > enhanced my life more than it hindered it. Having something

that

> > made

> > > me different ultimately made me stronger and more self

reliant.

> > With

> > > that said, and I am speaking from my own experience, it was

very

> > hard

> > > to be a teenager and look different. I was teased, I had low

self

> > > esteem for a long time, and it was a long time before I was

able

> to

> > be

> > > confident enough to start dating. High school was very

difficult

> > for

> > > me socially and I really think it was because I had very low

self

> > > esteem. I think it's important to be honest about these

feelings

> so

> > > that we can find a way to help young people with this issue.

> > >

> > > 2) Thanks for the encouraging words from women who were able

to

> get

> > > pregnant despite having Type 1. I should clarify my earlier

> posting

> > > just to say that I am mostly upset (despite being a

pediatrician!)

> > > that I wasn't informed earlier of the urgency to get pregnant.

I

> am

> > > now 31 and if I now have POF, I will regret not getting pregnant

> > > earlier (I have been with my husband since we were 21). Mostly

I

> am

> > > upset at myself for not doing more research myself. Though my

> > doctors

> > > never told me, that's not their fault. I should have done my own

> > > research.

> > >

> > > 3) Someone asked a specific question about the genetic test. I

> am

> > not

> > > sure where to get it (there are many posts about this in earlier

> > > emails), but you can ask your genetics doctor for information

on

> the

> > > FOXL2 test. Since I have not had it myself, I don't know where

to

> > > obtain it. Perhaps others can help?

> > >

> > > 4) As for the ethical decision regarding knowingly having a

child

> > > with a genetic disease, I can see every side of the multiple

> emails

> > I

> > > have received. As a pediatrician, I have certainly seen

hundreds

> of

> > > children with much more severe conditions than BPES. Of course

> it

> > is

> > > not an awful thing to have it! Let's face it - I have thrived

> > mostly

> > > because I was 'different' and likely became a doctor because of

my

> > > BPES. But, then there is the emotional side of knowingly

passing

> on

> > > something that will make your child's life harder in some way.

> > > Basically, what I was saying in my email is that if I have POF

and

> > > can't get pregnant I will be relieved that I don't have to make

> that

> > > decision. That's all.

> > >

> > > Thanks for all your supportive emails! No results yet, but

they

> > will

> > > likely be back in the next couple of days.

> > >

> > > CBJ

> > >

> >

>

[Guest guest]

Best luck to you, thank you for sharing!

> > >

> > > Hi,

> > > I'd like to say that I totally understand where you're coming

> > from.

> > > I am 31, and have POF. I too did not know about the fertility

> > issues

> > > associated with BPES until very recently when we began trying

for

> a

> > > baby. I haven't really being diagnosed with type 1 or 2,

> however,

> > I

> > > have made the assumption that I must have type 1 as I have a

high

> > FSH

> > > level, and very few periods. If I had have known about the

risks

> of

> > > POF, I would have started a family earlier. My FSH levels were

> > > normal last Jan, and I am finding it difficult to come to terms

> > with

> > > the fact that I might be infertile. I haven't given up just

yet

> > > though. I am about to try a Natural Cycle IVF cycle, they have

> put

> > > me on the pill for a couple of months in the hope that it might

> > kick

> > > start my ovaries, I'm not holding out much hope, but it's

better

> > than

> > > nothing. I will let the group know how I get on. The clinic I

am

> > > under don't even know what BPES is (I didn't know much untill a

> > month

> > > ago when I started researching), and aren't interested, as far

as

> > > they are concerned I have high FSH levels and few periods,

which

> is

> > > suggestive of POF! If this fails, I will look at other options.

> > >

> > > If I were to have my own biological child, then I would be

> > overjoyed,

> > > if it had BPES or not. Having said that, if I can't and have

to

> > > consider egg donation, then one of the positives would be that

I

> > > wouldn't pass it on, that is the only positive though, so I

think

> I

> > > understand what you were talking about. Having BPES really has

> had

> > > little negative impact on my life either, in fact I am often

told

> > how

> > > attractive I am (I don't mean to sound big headed!) People just

> > think

> > > I am half oriental. I too was teased at school, but the other

> kids

> > > got to know me, and it wasn't an issue. I had surgery, which

did

> > > improve my appearence, which did help. If anyone reads this who

> has

> > > children with BPES, I would like them to know it really wasn't

a

> > > negative thing for me.

> > >

> > > The only way in which it has become a problem for me now is the

> > > fertility issue. But to parents reading this, for warned is

for

> > > armed, and POF does not mean that you are infertile straight

> away,

> > so

> > > your daughters can make infomred choices about their futures,

> with

> > > regards to family planning. I struggle with not findoing this

> out

> > > earlier, it's like having the winning lottery ticket, and not

> > cashing

> > > it in on time!

> > >

> > > As I say, I haven't given up yet

> > >

> > > best wishes,

> > >

> > > Abbie

> > > >

> > > > Hi again,

> > > >

> > > > Thanks to everyone for their interesting responses.

> > > >

> > > > A few clarifications on my earlier email:

> > > >

> > > > 1) I had a great childhood growing up with BPES. I was a

> bright,

> > > > loved child who thrived and had every advantage. I don't

want

> to

> > > > scare the young parents who emailed me about their daughters

> into

> > > > thinking that it's an awful thing. As I said in my first

> email,

> > > BPES

> > > > enhanced my life more than it hindered it. Having something

> that

> > > made

> > > > me different ultimately made me stronger and more self

> reliant.

> > > With

> > > > that said, and I am speaking from my own experience, it was

> very

> > > hard

> > > > to be a teenager and look different. I was teased, I had low

> self

> > > > esteem for a long time, and it was a long time before I was

> able

> > to

> > > be

> > > > confident enough to start dating. High school was very

> difficult

> > > for

> > > > me socially and I really think it was because I had very low

> self

> > > > esteem. I think it's important to be honest about these

> feelings

> > so

> > > > that we can find a way to help young people with this issue.

> > > >

> > > > 2) Thanks for the encouraging words from women who were able

> to

> > get

> > > > pregnant despite having Type 1. I should clarify my earlier

> > posting

> > > > just to say that I am mostly upset (despite being a

> pediatrician!)

> > > > that I wasn't informed earlier of the urgency to get

pregnant.

> I

> > am

> > > > now 31 and if I now have POF, I will regret not getting

pregnant

> > > > earlier (I have been with my husband since we were 21).

Mostly

> I

> > am

> > > > upset at myself for not doing more research myself. Though my

> > > doctors

> > > > never told me, that's not their fault. I should have done my

own

> > > > research.

> > > >

> > > > 3) Someone asked a specific question about the genetic test.

I

> > am

> > > not

> > > > sure where to get it (there are many posts about this in

earlier

> > > > emails), but you can ask your genetics doctor for information

> on

> > the

> > > > FOXL2 test. Since I have not had it myself, I don't know

where

> to

> > > > obtain it. Perhaps others can help?

> > > >

> > > > 4) As for the ethical decision regarding knowingly having a

> child

> > > > with a genetic disease, I can see every side of the multiple

> > emails

> > > I

> > > > have received. As a pediatrician, I have certainly seen

> hundreds

> > of

> > > > children with much more severe conditions than BPES. Of

course

> > it

> > > is

> > > > not an awful thing to have it! Let's face it - I have

thrived

> > > mostly

> > > > because I was 'different' and likely became a doctor because

of

> my

> > > > BPES. But, then there is the emotional side of knowingly

> passing

> > on

> > > > something that will make your child's life harder in some

way.

> > > > Basically, what I was saying in my email is that if I have

POF

> and

> > > > can't get pregnant I will be relieved that I don't have to

make

> > that

> > > > decision. That's all.

> > > >

> > > > Thanks for all your supportive emails! No results yet, but

> they

> > > will

> > > > likely be back in the next couple of days.

> > > >

> > > > CBJ

> > > >

> > >

> >

>