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Astrid wrote: "Since we know what it is, and his type is the one with women's infertility, we want to do what is possible to avoid it..."

Dear Astrid,

I don't know what you mean. How can you avoid having a child (with a 50/50 % chance) with BPES Typ1 (except not becoming pregnant) if your partner has this condition?

I also do not understand what the benefit of a test during pregnancy would have, except that you know the diagnosis in advance. Not to forget that the amniocentesis test has a risk of causing a miscarriage.

The question is, if this is worth it, just to "know in advance".

It is not correct to say that a girl with Type 1 will never become pregnant. She will only go through an early menopause. Many Type 1 women got pregnant in their twenties.

Greetings, Anja

blepharophimosis From: astrid_31@...Date: Sun, 28 Dec 2008 09:07:55 +0000Subject: Re : blepharophimosis testing

Hello,

There is in indeed 50/50 chance and there is a test you can perform while you are pregnant (after 10 weeks I think).

My husband has BPS and we have decided to pass a test when I'll be pregnant. Since we know what it is, and his type is the one with women's infertility, we want to do what is possible to avoid it... I would be unable to tell to my future daughter that she will never be a mother and that I knew it before to be pregnant....

We have met specialists in genetics, who have performed the test (based on my husband's cells), and the team is ready... I would like to get pregnant in the coming months... :-)

If you want to discuss it, I would love to ! It is the first time I met someone speaking about something else than eye surgery in the forum .

Kind regards,

Astrid.

De : brittany_seslar <brittany_seslar >À : blepharophimosis Envoyé le : Samedi, 27 Décembre 2008, 22h48mn 29sObjet : blepharophimosis testing

Does anyone know if their is a test I can take while I am pregnant tofind out if my child will be born with this eye condition? the fatherof my unborn child and his 4 year old son both have blepharophimosis.I have read that it is a 50/50 chance that it will be passed on toyour child...is that true?

Schlafmütze oder Querdenker? Zeig bei Live Battle, was du auf dem Kasten hast!

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Hi Astrid,

I think we do know what you mean when you say you would like

to 'avoid it'. Abortion is obviously a touchy subject and one that we

will all never come to agreeement on - but it is an important one

that should be discussed in forums like this one. I wish you all the

luck in the world with your path that you choose to follow - it's

amazing what science can do for us these days! Have you also

investigated the possibility of IVF treatment in order to 'choose'

unaffected embryos? This is something we have available in NZ - it

may not be the case in all countries. On a personal note - Mike and I

didn't have the information you have (the 50/50 chance info!)before

our son Charlie was born and as no-one else in Mike's family had BPES

we didn't think it was a pass-onable thing! But it was! We have had

Mike's genes tested since then and his BPES is not the one related to

female infertility so in many ways we were lucky. If it was, then I

definitely would be doing IVF for any future children. But because

there is no relation we don't plan to use technology to choose our

future babies - mainly for Charlie's sake as I wouldn't ever want him

to feel like he was a mistake in any way and have him wonder why we

didn't try and do the same for him. Also, for Charlie, having a

brother or sister with the same condition would only be a bonus.

That's my two cents - I think you are very brave to come to your

decision and wish you luck with getting pregnant!

Talia, Mike and Charlie

--- In blepharophimosis , Astrid M <astrid_31@...>

wrote:

>

> Hello,

>

> There is in indeed 50/50 chance and there is a test you can perform

while you are pregnant (after 10 weeks I think).

>

> My husband has BPS and we have decided to pass a test when I'll be

pregnant.  Since we know what it is, and his type is the one with

women's infertility, we want to do what is possible to avoid it... I

would be unable to tell to my future daughter that she will never be

a mother and that I knew it before to be pregnant....

>

> We have met specialists in genetics, who have performed the test

(based on my husband's cells), and the team is ready... I would like

to get pregnant in the coming months... :-)

>

> If you want to discuss it, I would love to ! It is the first time I

met someone speaking about something else than eye surgery in the

forum .

>

> Kind regards,

>

> Astrid.

>

>

>

>

> ________________________________

> De : brittany_seslar <brittany_seslar@...>

> À : blepharophimosis

> Envoyé le : Samedi, 27 Décembre 2008, 22h48mn 29s

> Objet : blepharophimosis testing

>

>

> Does anyone know if their is a test I can take while I am pregnant

to

> find out if my child will be born with this eye condition? the

father

> of my unborn child and his 4 year old son both have

blepharophimosis.

> I have read that it is a 50/50 chance that it will be passed on to

> your child...is that true?

>

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Talia and Astrid,Talia I am in total agreement in all that you stated; before the birth of my first born son it never crossed our mind that our children would have the condition since my husband too was the only one in his family with it......my son (8 now) was born with it, my second son (5 now) does not have the condition, and my youngest (3 now) also has blep....my two boys with the condition live a perfectly normal life the condition has had absolutely no other affects in any other aspect of their lives....Of course the only thing is sometimes people can be mean and teaseful of the appearance; I believe having a sibling with the same condition has eased that for my boys............I do not believe in abortions for me and do not judge anyone; I am done having kids but if I where to want another I would get the test for the type of gene; if it in fact is the one with fertility problems I would probably just not conceive at all as Astrid stated I would not want to put a daughter in that situation of never knowing motherhood....if I had to choose between me being childless or my daughter being childless It would be me as that is not something someone should predetermined for you.Kind Regards to allSent on the Now Network™ from my Sprint® BlackBerryFrom: "talia.goodger" Date: Mon, 29 Dec 2008 01:15:17 -0000<blepharophimosis >Subject: Re: Re : blepharophimosis testing Hi Astrid, I think we do know what you mean when you say you would like to 'avoid it'. Abortion is obviously a touchy subject and one that we will all never come to agreeement on - but it is an important one that should be discussed in forums like this one. I wish you all the luck in the world with your path that you choose to follow - it's amazing what science can do for us these days! Have you also investigated the possibility of IVF treatment in order to 'choose' unaffected embryos? This is something we have available in NZ - it may not be the case in all countries. On a personal note - Mike and I didn't have the information you have (the 50/50 chance info!)before our son Charlie was born and as no-one else in Mike's family had BPES we didn't think it was a pass-onable thing! But it was! We have had Mike's genes tested since then and his BPES is not the one related to female infertility so in many ways we were lucky. If it was, then I definitely would be doing IVF for any future children. But because there is no relation we don't plan to use technology to choose our future babies - mainly for Charlie's sake as I wouldn't ever want him to feel like he was a mistake in any way and have him wonder why we didn't try and do the same for him. Also, for Charlie, having a brother or sister with the same condition would only be a bonus. That's my two cents - I think you are very brave to come to your decision and wish you luck with getting pregnant! Talia, Mike and Charlie > > Hello, > > There is in indeed 50/50 chance and there is a test you can perform while you are pregnant (after 10 weeks I think). > > My husband has BPS and we have decided to pass a test when I'll be pregnant.  Since we know what it is, and his type is the one with women's infertility, we want to do what is possible to avoid it... I would be unable to tell to my future daughter that she will never be a mother and that I knew it before to be pregnant.... > > We have met specialists in genetics, who have performed the test (based on my husband's cells), and the team is ready... I would like to get pregnant in the coming months... :-) > > If you want to discuss it, I would love to ! It is the first time I met someone speaking about something else than eye surgery in the forum . > > Kind regards, > > Astrid. > > > > >________________________________ > De : brittany_seslar <brittany_seslar@...> > À : blepharophimosis > Envoyé le : Samedi, 27 Décembre 2008, 22h48mn 29s > Objet : blepharophimosis testing > > > Does anyone know if their is a test I can take while I am pregnant to > find out if my child will be born with this eye condition? the father > of my unborn child and his 4 year old son both have blepharophimosis. > I have read that it is a 50/50 chance that it will be passed on to > your child...is that true? >

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I did not really want to become part of such a controversial subject but i wanted to insert my 2 centsI am a maternity nurse and i believe in everyone has to make their own decision, so i am not here telling you what to do and what not to do, however i want to know that if you decide that you will abort a BPES baby (girl) what makes you think that a NON BPES baby girl/boy will not also be infertile? there is a chance that ANY baby can be born and not have babies in the future BPES or not, let me tell you that you should be thankful that you can have babies at all, there are many a mama's in waiting that cannot and never will get pregnant. BPES or notI for one was told i could not have children, i then had my first child who in fact DOES have BPES and my goodness if he was my last i would be so thankful that i had at least him "small" eyes and all...yes i understand you do not want to face your "child" to let them know they "may" or "may not" be infertile because of type 1/2 etc......but.....anyone can be born infertile/become infertilejust something to think about  Tonikka & and Lynden tmareephotography.blogspot.comtmareephotography.comupdotoyou.com On 28-Dec-08, at 2:07 AM, Astrid M wrote:Hello, There is in indeed 50/50 chance and there is a test you can perform while you are pregnant (after 10 weeks I think). My husband has BPS and we have decided to pass a test when I'll be pregnant.  Since we know what it is, and his type is the one with women's infertility, we want to do what is possible to avoid it... I would be unable to tell to my future daughter that she will never be a mother and that I knew it before to be pregnant.... We have met specialists in genetics, who have performed the test (based on my husband's cells), and the team is ready... I would like to get pregnant in the coming months... :-) If you want to discuss it, I would love to ! It is the first time I met someone speaking about something else than eye surgery in the forum . Kind regards, Astrid.De : brittany_seslar <brittany_seslar >À : blepharophimosis Envoyé le : Samedi, 27 Décembre 2008, 22h48mn 29sObjet : blepharophimosis testingDoes anyone know if their is a test I can take while I am pregnant tofind out if my child will be born with this eye condition? the fatherof my unborn child and his 4 year old son both have blepharophimosis.I have read that it is a 50/50 chance that it will be passed on toyour child...is that true? 

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Good point Tonikka.

Also, something else for you to think about Astrid....I got married at 21 and am now 44 years old and have never in my life been on birth control. Out of all of those years I have only got pregnant once. There is no explanation for my infertility (I have the type of BPES which is NOT associated with infertility). I got pregnant at the age of 24 and had a son who has BPES. Had I had an abortion, I would never have had children and that for me would of been a much harder thing to live with then having a child with BPES.

I also am not against abortion but have you asked yourself the questions...."Will I be able to live with the consequences if there is not more then one pregnancy?"

Ontario, Canada

From: Tonikka & <lyndenhunter@...>blepharophimosis Sent: Monday, December 29, 2008 7:47:40 PMSubject: Re: Re : blepharophimosis testing

I did not really want to become part of such a controversial subject but i wanted to insert my 2 cents

I am a maternity nurse and i believe in everyone has to make their own decision, so i am not here telling you what to do and what not to do, however i want to know that if you decide that you will abort a BPES baby (girl) what makes you think that a NON BPES baby girl/boy will not also be infertile? there is a chance that ANY baby can be born and not have babies in the future BPES or not, let me tell you that you should be thankful that you can have babies at all, there are many a mama's in waiting that cannot and never will get pregnant. BPES or not

I for one was told i could not have children, i then had my first child who in fact DOES have BPES and my goodness if he was my last i would be so thankful that i had at least him "small" eyes and all...

yes i understand you do not want to face your "child" to let them know they "may" or "may not" be infertile because of type 1/2 etc......

but.....anyone can be born infertile/become infertile

just something to think about

Tonikka & and Lynden

tmareephotography. blogspot. com

tmareephotography. com

updotoyou.com

On 28-Dec-08, at 2:07 AM, Astrid M wrote:

Hello,

There is in indeed 50/50 chance and there is a test you can perform while you are pregnant (after 10 weeks I think).

My husband has BPS and we have decided to pass a test when I'll be pregnant. Since we know what it is, and his type is the one with women's infertility, we want to do what is possible to avoid it... I would be unable to tell to my future daughter that she will never be a mother and that I knew it before to be pregnant....

We have met specialists in genetics, who have performed the test (based on my husband's cells), and the team is ready... I would like to get pregnant in the coming months... :-)

If you want to discuss it, I would love to ! It is the first time I met someone speaking about something else than eye surgery in the forum .

Kind regards,

Astrid.

De : brittany_seslar <brittany_seslar>À : blepharophimosisEnvoyé le : Samedi, 27 Décembre 2008, 22h48mn 29sObjet : blepharophimosis testing

Does anyone know if their is a test I can take while I am pregnant tofind out if my child will be born with this eye condition? the fatherof my unborn child and his 4 year old son both have blepharophimosis.I have read that it is a 50/50 chance that it will be passed on toyour child...is that true?

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I can't believe this is even being discussed. My daughter is 3 with BPES. I can't imagine life without her...Some day I may have to tell her that she is infertile...so what !! When the time comes adoption can be a possibility. I had gone threw 5 years of fertility treatments to have her. Your husband had a right to live with his BPES. So should your daughter --just because she might not be able to have a child is not a reason to abort...It sounds like you are the one with the problem--DO NOT have a child if you can't handle the responsiblities of it. Please remember a 10 week old is a baby!!

Hello,

There is in indeed 50/50 chance and there is a test you can perform while you are pregnant (after 10 weeks I think).

My husband has BPS and we have decided to pass a test when I'll be pregnant. Since we know what it is, and his type is the one with women's infertility, we want to do what is possible to avoid it... I would be unable to tell to my future daughter that she will never be a mother and that I knew it before to be pregnant....

We have met specialists in genetics, who have performed the test (based on my husband's cells), and the team is ready... I would like to get pregnant in the coming months... :-)

If you want to discuss it, I would love to ! It is the first time I met someone speaking about something else than eye surgery in the forum .

Kind regards,

Astrid.

De : brittany_seslar <brittany_seslar>À : blepharophimosisEnvoyé le : Samedi, 27 Décembre 2008, 22h48mn 29sObjet : blepharophimosis testing

Does anyone know if their is a test I can take while I am pregnant tofind out if my child will be born with this eye condition? the fatherof my unborn child and his 4 year old son both have blepharophimosis.I have read that it is a 50/50 chance that it will be passed on toyour child...is that true?

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Dear all

Please remember that exchanges of information are always good.

Pointing out  considerations that are overlooked are good.

Please do not be rude, no ”shouting”, no  need to make

direct accusations to people. If you don’t agree with a value judgement,

then you are able to politely say so. 

It is really important that we don’t let this get out of

hand, otherwise I will have to moderate every single email posted. That means

read it before anyone else has seen it, talk with others to decide if it is

acceptable, and then allow it to be sent to the group.

I really don’t want to do this, because we are a mature

enough group that does not need this sort of intervention.

Remember that there are lots of people reading these posts, we

don’t want to give the impression that we are a rude community. There are

polite ways of saying “I don’t share your opinion”. Or “you

may like to think about …”.

For those of you who don’t know me, I help to run this

group. This involves putting in several hours a month over the past 9 years. I

also have to read every single post made.  Several other members of the group

help me from time to time, and I appreciate what they do. 

Regards

Shireen Mohandes

London, England

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of Steph Lowe

Sent: 30 December 2008 02:45

blepharophimosis

Subject: Re: Re : blepharophimosis testing

I can't believe this is even being discussed. My

daughter is 3 with BPES. I can't imagine life without her...Some day I

may have to tell her that she is infertile...so what !! When the time comes

adoption can be a possibility. I had gone threw 5 years of fertility

treatments to have her. Your husband had a right to live with his

BPES. So should your daughter --just because she might not be able to

have a child is not a reason to abort...It sounds like you are the one with

the problem--DO NOT have a child if you can't handle the

responsiblities of it. Please remember a 10 week old is a baby!!

Hello,

There is in indeed 50/50 chance

and there is a test you can perform while you are pregnant (after 10 weeks I

think).

My husband has BPS and we have

decided to pass a test when I'll be pregnant. Since we know what it is,

and his type is the one with women's infertility, we want to do what is

possible to avoid it... I would be unable to tell to my future daughter that

she will never be a mother and that I knew it before to be pregnant....

We have met specialists in

genetics, who have performed the test (based on my husband's cells), and the

team is ready... I would like to get pregnant in the coming months... :-)

If you want to discuss it, I

would love to ! It is the first time I met someone speaking about something

else than eye surgery in the forum .

Kind regards,

Astrid.

De : brittany_seslar <brittany_seslar@

>

À : blepharophimosis@

groups. com

Envoyé le : Samedi, 27

Décembre 2008, 22h48mn 29s

Objet : blepharophimosis

testing

Does anyone know if their is a test I can take

while I am pregnant to

find out if my child will be born with this eye condition? the father

of my unborn child and his 4 year old son both have blepharophimosis.

I have read that it is a 50/50 chance that it will be passed on to

your child...is that true?

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I would also like to add that when we took Todd (our 6 year old son) to

the gentetics consultant she would have quite happily tested him for

BPES type but felt that the time to do that would be when HE wanted to

know the info not us. As she pointed out who knows what medical

advances are going to be made, making an informed decision today will

most certainly not be the same as making an informed decision in say

even 20 years time.

Caroline

Kent, UK

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i agree fully with these arguments. development of medicine-science goes

fast, faster then ever.

salut,

dolph - the netherlands

Re: Re : blepharophimosis testing

>I would also like to add that when we took Todd (our 6 year old son) to

> the gentetics consultant she would have quite happily tested him for

> BPES type but felt that the time to do that would be when HE wanted to

> know the info not us. As she pointed out who knows what medical

> advances are going to be made, making an informed decision today will

> most certainly not be the same as making an informed decision in say

> even 20 years time.

> Caroline

> Kent, UK

>

>

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

>

>

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--- In blepharophimosis , Astrid M <astrid_31@...>

wrote:

>

> Hello,

>

> There is in indeed 50/50 chance and there is a test you can perform

while you are pregnant (after 10 weeks I think).

>

> My husband has BPS and we have decided to pass a test when I'll be

pregnant.  Since we know what it is, and his type is the one with

women's infertility, we want to do what is possible to avoid it... I

would be unable to tell to my future daughter that she will never be

a mother and that I knew it before to be pregnant....

>

> We have met specialists in genetics, who have performed the test

(based on my husband's cells), and the team is ready... I would like

to get pregnant in the coming months... :-)

>

> If you want to discuss it, I would love to ! It is the first time I

met someone speaking about something else than eye surgery in the

forum .

>

> Kind regards,

>

> Astrid.

>

>

>

>

> ________________________________

> De : brittany_seslar <brittany_seslar@...>

> À : blepharophimosis

> Envoyé le : Samedi, 27 Décembre 2008, 22h48mn 29s

> Objet : blepharophimosis testing

>

>

> Does anyone know if their is a test I can take while I am pregnant

to

> find out if my child will be born with this eye condition? the

father

> of my unborn child and his 4 year old son both have

blepharophimosis.

> I have read that it is a 50/50 chance that it will be passed on to

> your child...is that true?

>

Hi All, I have been reading this thread with great interest and have

one polite observation for Astrid and one question for anyone who

might know...

Astrid; please remember that BPES is not the only 'problem' you may

have to face.

My beautiful son was born with BPES and also as a separate issue

had/has Hydrocephalus. He has a shunt in his brain which drains

excess fluid through a tube which runs down his head, neck and into

his stomach cavity. At any time this shunt can fail and cause major

problems including the need for brain surgeries. He has already had 2

brain surgeries plus the Frontalis sling operation.

Believe me, I know which one I would choose to rid him of if I could.

In a way I feel the Hydro puts the BPES into perspective. Neither

problem showed on scans etc so we did not have a choice. But all I am

trying to say is that you can plan for every eventually but what will

be will be; there is no way to avoid it. I wish you the best whatever

happens in your life.

My question; Dom has had genetic testing for BPES and they found

nothing; his chromosomes came back 'normal'. So he doesnt seem to

have either type of BPES but he has it. Has anyone else come across

this? And so what would be the case of him passing BPES on to any

children he might have, considering that his genes test 'normal'?

Any hey, I know I'm jumping the gun by about 25 years but whilst

we're on the subject....!

BTW I had some good news; there is to be a world conference of

opthamologic plastic surgeons here on this little island of Crete and

a VERY well known British surgeon is coming and my surgeon has

arranged for me to meet him ; they have asked permission to use

photos of Dom in a medical paper as apparently he is non typical in

some aspects.

After some soul searching (trying to double guess my future adult

son) I agreed; I hope he will be with me when I think that shared

knowledge leads to greater breakthroughs for future cases.

But it will be nice to discuss Dom with one of the front runners in

this field and get some answers to some questions.

Happy New Year to you all.

Leonie & Dom

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Hi Leonie

I was reading your post and did not quite understand this part

(I quote):

My question; Dom has had genetic testing for BPES and they

found

nothing; his chromosomes came back 'normal'. So he doesnt seem to

have either type of BPES but he has it.

I got a bit lost – who is “he†in this context?  I tried to look

back at your posts …. I think I am to understand that you say both Dom and your

son have BPES (ie all of the characteristics  the B, P, and the E bit)

Here is what I understand (and if any of you medics are out

there, please correct me).

If somebody has BPES (ie all of the features) then the diagnosis

is very easy visually, and can be backed up via tests.

If somebody has BPES, then they will have the features (albeit

very mild in some, and more extreme in others).

Am quoting:

Penetrance

·

To

date, all individuals found to have a FOXL2 mutation have the BPES

phenotype.

·

For

some FOXL2 mutations, inter- and intrafamilial variable expressivity of

female infertility (premature ovarian failure) is observed. [De Baere et al 2003].

(I looked up what phenotype means   ……… A phenotype

is any observable characteristic or trait)

From what I have read, if you have BPES, there is a 50/50 chance

of passing it on. But if somebody’s test have come back saying that theydon’t

have BPES … then perhaps this is something new, and requires further discussion

amongst the medics.

Great news that you are able to meet up with so many talented

people at the conference … hopefully this will help you with the answers.  Make

sure you make a long list of questions to take with you …

Take care

Shireen Mohandes

London

England

>

>

Hi All, I have been reading this thread with great interest and have

one polite observation for Astrid and one question for anyone who

might know...

Astrid; please remember that BPES is not the only 'problem' you may

have to face.

My beautiful son was born with BPES and also as a separate issue

had/has Hydrocephalus. He has a shunt in his brain which drains

excess fluid through a tube which runs down his head, neck and into

his stomach cavity. At any time this shunt can fail and cause major

problems including the need for brain surgeries. He has already had 2

brain surgeries plus the Frontalis sling operation.

Believe me, I know which one I would choose to rid him of if I could.

In a way I feel the Hydro puts the BPES into perspective. Neither

problem showed on scans etc so we did not have a choice. But all I am

trying to say is that you can plan for every eventually but what will

be will be; there is no way to avoid it. I wish you the best whatever

happens in your life.

My question; Dom has had genetic testing for BPES and they found

nothing; his chromosomes came back 'normal'. So he doesnt seem to

have either type of BPES but he has it. Has anyone else come across

this? And so what would be the case of him passing BPES on to any

children he might have, considering that his genes test 'normal'?

Any hey, I know I'm jumping the gun by about 25 years but whilst

we're on the subject....!

BTW I had some good news; there is to be a world conference of

opthamologic plastic surgeons here on this little island of Crete and

a VERY well known British surgeon is coming and my surgeon has

arranged for me to meet him ; they have asked permission to use

photos of Dom in a medical paper as apparently he is non typical in

some aspects.

After some soul searching (trying to double guess my future adult

son) I agreed; I hope he will be with me when I think that shared

knowledge leads to greater breakthroughs for future cases.

But it will be nice to discuss Dom with one of the front runners in

this field and get some answers to some questions.

Happy New Year to you all.

Leonie & Dom

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  • 2 weeks later...

Bless you Terry for the post that you have written.How lucky your daughter is, to have such a beautiful mother.This world should be filled with a zillion more Terry's !I wouldn't swap my gorgeous daughter for the world.Machaela Aus.

Hello,

There is in indeed 50/50 chance and there is a test you can perform while you are pregnant (after 10 weeks I think).

My husband has BPS and we have decided to pass a test when I'll be pregnant. Since we know what it is, and his type is the one with women's infertility, we want to do what is possible to avoid it... I would be unable to tell to my future daughter that she will never be a mother and that I knew it before to be pregnant....

We have met specialists in genetics, who have performed the test (based on my husband's cells), and the team is ready... I would like to get pregnant in the coming months... :-)

If you want to discuss it, I would love to ! It is the first time I met someone speaking about something else than eye surgery in the forum .

Kind regards,

Astrid.

De : brittany_seslar <brittany_seslar>À : blepharophimosisEnvoyé le : Samedi, 27 Décembre 2008, 22h48mn 29sObjet : blepharophimosis testing

Does anyone know if their is a test I can take while I am pregnant tofind out if my child will be born with this eye condition? the fatherof my unborn child and his 4 year old son both have blepharophimosis.I have read that it is a 50/50 chance that it will be passed on toyour child...is that true?

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