Re: My Daughter

[Guest guest]

Welcome to the board tracey ....sure is a great group of people who have been very helpful and supportive ...Welcome aboard ! Sharon lott_tracy <lott_tracy@...> wrote:

Hi everyone.I have just found this group and what a breath of fresh air it is.My Daughter is 23months old and has BPES, we live in Kent in England and when she was born nobody knew what was wrong with her and thought she may be downs,even the opthamologist shook his head!.My son is autisic and we have work very close with his peadiatrian and I called her direct to ask for help at this point emily was 6 months old we were directed to guys hospital in London where gene testing was down and found to be BPES,I was told that only 1 in 20,000 children get this and usually its passed down,to date we cant find anybody in either side of the family who may of had it.She has had one lift and we now just wait until she is old enough to have further ops done.I just wanted to say it great to hear other families in the same boat,and I

have giggled at the comments knowing exactly where your coming from.<a href="http://www.TickerFactory.com/"><img border="0" src="http://www.TickerFactory.com/ezt/d/1;14;11/st/20050609/k/3901/preg.png"></a>__________________________________________________

[Guest guest]

, i am Clare and my daughter is Emy we live in Hertford Hertfordshire, not too far from you in Kent.

Welcome to the site, its amazing and you will certainly find hugh support network here. We both have BPES, my son doesnt, im 36 my daughter is 9, we were both operated on by Mr Collin in Moorfields (20 odd years apart). Well done you for pushing for a diagnosis - its difficult sometimes but we need to keep going and pushing - its the way things get done!!

Any questions or thoughts, feel free to mail me and we will do our best to share our experiences.

All the best.

clare and emy Teale

Herts UKlott_tracy <lott_tracy@...> wrote:

Hi everyone.I have just found this group and what a breath of fresh air it is.My Daughter is 23months old and has BPES, we live in Kent in England and when she was born nobody knew what was wrong with her and thought she may be downs,even the opthamologist shook his head!.My son is autisic and we have work very close with his peadiatrian and I called her direct to ask for help at this point emily was 6 months old we were directed to guys hospital in London where gene testing was down and found to be BPES,I was told that only 1 in 20,000 children get this and usually its passed down,to date we cant find anybody in either side of the family who may of had it.She has had one lift and we now just wait until she is old enough to have further ops done.I just wanted to say it great to hear other families in the same boat,and I

have giggled at the comments knowing exactly where your coming from.__________________________________________________

[Guest guest]

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Hi Clare

Thanks for the reply. It is great to know is not the only one out their,this sydrome must be so rare. has just been registered on the Visually impaired reg,when we were visited by the Kent Association for the blind he had never heard of BPES as I ask if I could be put in contact with others.

Just by reading everybodies comment on the group I am convinced its passed down (like yourself) it must go back quite a way in our family tree.

Speak soon

Clare Teale <clareteale@...> wrote:

, i am Clare and my daughter is Emy we live in Hertford Hertfordshire, not too far from you in Kent.

Welcome to the site, its amazing and you will certainly find hugh support network here. We both have BPES, my son doesnt, im 36 my daughter is 9, we were both operated on by Mr Collin in Moorfields (20 odd years apart). Well done you for pushing for a diagnosis - its difficult sometimes but we need to keep going and pushing - its the way things get done!!

Any questions or thoughts, feel free to mail me and we will do our best to share our experiences.

All the best.

clare and emy Teale

Herts UKlott_tracy <lott_tracy@...> wrote:

Hi everyone.I have just found this group and what a breath of fresh air it is.My Daughter is 23months old and has BPES, we live in Kent in England and when she was born nobody knew what was wrong with her and thought she may be downs,even the opthamologist shook his head!.My son is autisic and we have work very close with his peadiatrian and I called her direct to ask for help at this point emily was 6 months old we were directed to guys hospital in London where gene testing was down and found to be BPES,I was told that only 1 in 20,000 children get this and usually its passed down,to date we cant find anybody in either side of the family who may of had it.She has had one lift and we now just wait until she is old enough to have further ops done.I just wanted to say it great to hear other families in the same boat,and I

have giggled at the comments knowing exactly where your coming from.

__________________________________________________

[Guest guest]

Hi

Welcome to the group. , I think you may find it helpful to get some more information about from Guy's hospital about genetics. They'll be able to tell you more about how many people get BPES by chance, neither parent having BPES. There are many people like me and who are members of this group. I would say that approximately half of the people in this group are the only people in their family with BPES.

I don't think there is anything to be gained on looking back in the family tree. BPES is not one of those syndromes that skip generations.

Whereabouts in Kent are you from? I used to live in Ramsgate for a bit.

We are thinking of another UK get together in December, it would be nice to meet you and your family if you'd like that. In the last get together 5 families came along, the whole group was about 15 people I think.

If you'd like to have a chat on the phone I'd be happy to get in touch.

Take care

Shireen

North London

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of LottSent: 08 September 2005 19:04blepharophimosis Subject: Re: blepharophimosis My Daughter

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Hi Clare

Thanks for the reply. It is great to know is not the only one out their,this sydrome must be so rare. has just been registered on the Visually impaired reg,when we were visited by the Kent Association for the blind he had never heard of BPES as I ask if I could be put in contact with others.

Just by reading everybodies comment on the group I am convinced its passed down (like yourself) it must go back quite a way in our family tree.

Speak soon

Clare Teale <clareteale@...> wrote:

, i am Clare and my daughter is Emy we live in Hertford Hertfordshire, not too far from you in Kent.

Welcome to the site, its amazing and you will certainly find hugh support network here. We both have BPES, my son doesnt, im 36 my daughter is 9, we were both operated on by Mr Collin in Moorfields (20 odd years apart). Well done you for pushing for a diagnosis - its difficult sometimes but we need to keep going and pushing - its the way things get done!!

Any questions or thoughts, feel free to mail me and we will do our best to share our experiences.

All the best.

clare and emy Teale

Herts UKlott_tracy <lott_tracy@...> wrote:

Hi everyone.I have just found this group and what a breath of fresh air it is.My Daughter is 23months old and has BPES, we live in Kent in England and when she was born nobody knew what was wrong with her and thought she may be downs,even the opthamologist shook his head!.My son is autisic and we have work very close with his peadiatrian and I called her direct to ask for help at this point emily was 6 months old we were directed to guys hospital in London where gene testing was down and found to be BPES,I was told that only 1 in 20,000 children get this and usually its passed down,to date we cant find anybody in either side of the family who may of had it.She has had one lift and we now just wait until she is old enough to have further ops done.I just wanted to say it great to hear other families in the same boat,and I have giggled at the comments knowing exactly where your coming from.

__________________________________________________

[Guest guest]

Hi Shireen

Well I was bought up in Ramsgate but have lived in Dover for a long time now so this is moremy home.

Thanks for the info,and yes I would love to get together in December.

Speak Soon

Andy Bowles & Shireen Mohandes <andy.bowles@...> wrote:

Hi

Welcome to the group. , I think you may find it helpful to get some more information about from Guy's hospital about genetics. They'll be able to tell you more about how many people get BPES by chance, neither parent having BPES. There are many people like me and who are members of this group. I would say that approximately half of the people in this group are the only people in their family with BPES.

I don't think there is anything to be gained on looking back in the family tree. BPES is not one of those syndromes that skip generations.

Whereabouts in Kent are you from? I used to live in Ramsgate for a bit.

We are thinking of another UK get together in December, it would be nice to meet you and your family if you'd like that. In the last get together 5 families came along, the whole group was about 15 people I think.

If you'd like to have a chat on the phone I'd be happy to get in touch.

Take care

Shireen

North London

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of LottSent: 08 September 2005 19:04blepharophimosis Subject: Re: blepharophimosis My Daughter

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Hi Clare

Thanks for the reply. It is great to know is not the only one out their,this sydrome must be so rare. has just been registered on the Visually impaired reg,when we were visited by the Kent Association for the blind he had never heard of BPES as I ask if I could be put in contact with others.

Just by reading everybodies comment on the group I am convinced its passed down (like yourself) it must go back quite a way in our family tree.

Speak soon

Clare Teale <clareteale@...> wrote:

, i am Clare and my daughter is Emy we live in Hertford Hertfordshire, not too far from you in Kent.

Welcome to the site, its amazing and you will certainly find hugh support network here. We both have BPES, my son doesnt, im 36 my daughter is 9, we were both operated on by Mr Collin in Moorfields (20 odd years apart). Well done you for pushing for a diagnosis - its difficult sometimes but we need to keep going and pushing - its the way things get done!!

Any questions or thoughts, feel free to mail me and we will do our best to share our experiences.

All the best.

clare and emy Teale

Herts UKlott_tracy <lott_tracy@...> wrote:

Hi everyone.I have just found this group and what a breath of fresh air it is.My Daughter is 23months old and has BPES, we live in Kent in England and when she was born nobody knew what was wrong with her and thought she may be downs,even the opthamologist shook his head!.My son is autisic and we have work very close with his peadiatrian and I called her direct to ask for help at this point emily was 6 months old we were directed to guys hospital in London where gene testing was down and found to be BPES,I was told that only 1 in 20,000 children get this and usually its passed down,to date we cant find anybody in either side of the family who may of had it.She has had one lift and we now just wait until she is old enough to have further ops done.I just wanted to say it great to hear other families in the same boat,and I

have giggled at the comments knowing exactly where your coming from.

__________________________________________________

[Guest guest]

Hi

My name is Lucy from Hampshire, UK and my husband Garry and I have a 7 month old daughter called Holly with BPES. She is the first in the family to have this and until a few months ago had never heard of the syndrome! I am learning more and more, especially from this support group, I don't know what I would do without it.

I met up with other members of this group last month in London and it was so worthwhile, it helped my husband and I feel that we were not alone.

My husband and I, and Holly of course, are off to Kent this weekend to see friends, so if you fancied meeting up let me know. Where abouts are you in Kent? We are going to Lympne. If not, maybe we can meet up in December at the next get-together.

Hope to hear from you soon

Lucy x Lott <lott_tracy@...> wrote:

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Hi Clare

Thanks for the reply. It is great to know is not the only one out their,this sydrome must be so rare. has just been registered on the Visually impaired reg,when we were visited by the Kent Association for the blind he had never heard of BPES as I ask if I could be put in contact with others.

Just by reading everybodies comment on the group I am convinced its passed down (like yourself) it must go back quite a way in our family tree.

Speak soon

Clare Teale <clareteale@...> wrote:

, i am Clare and my daughter is Emy we live in Hertford Hertfordshire, not too far from you in Kent.

Welcome to the site, its amazing and you will certainly find hugh support network here. We both have BPES, my son doesnt, im 36 my daughter is 9, we were both operated on by Mr Collin in Moorfields (20 odd years apart). Well done you for pushing for a diagnosis - its difficult sometimes but we need to keep going and pushing - its the way things get done!!

Any questions or thoughts, feel free to mail me and we will do our best to share our experiences.

All the best.

clare and emy Teale

Herts UKlott_tracy <lott_tracy@...> wrote:

Hi everyone.I have just found this group and what a breath of fresh air it is.My Daughter is 23months old and has BPES, we live in Kent in England and when she was born nobody knew what was wrong with her and thought she may be downs,even the opthamologist shook his head!.My son is autisic and we have work very close with his peadiatrian and I called her direct to ask for help at this point emily was 6 months old we were directed to guys hospital in London where gene testing was down and found to be BPES,I was told that only 1 in 20,000 children get this and usually its passed down,to date we cant find anybody in either side of the family who may of had it.She has had one lift and we now just wait until she is old enough to have further ops done.I just wanted to say it great to hear other families in the same boat,and I

have giggled at the comments knowing exactly where your coming from.

__________________________________________________

[Guest guest]

Hi Our daughter was also born with BPES being the first in the family. Holly is now 20 months old. All I know is that there are two types of BPES and depending on which type your child has means that they may have fertility problems. Also if they can have children they have 50% chance of passing BPES on to them. I believe that they can go through the menopause early and have irregular periods?? However, I believe that someone who is actually going through it is more educated to answer your question. One thing I do know is that a male born with BPES is not affected with infertility but has a 50% chance to pass on to their children. I hope that makes sense. All the best. Lucy (Gosport, Hampshire UK) heather061784 <hbarga@...> wrote: My daughter was born with blepharophimosis in august which her daddy has i have been reading that some women with this condition have fertitly problems and some never even have a period how true is this? and if this is true has any guys ever had fertilty problems? it took my husband and i 1 year to get pregnant i was just wondering if i should ecpect to have the same problem because of blepharophimosis. If you have any thoughts on this subject please let me know them i am interested in hearing them.Thanks

All new "The new Interface is stunning in its simplicity and ease of use." - PC Magazine

[Guest guest]

I never heard anywhere that feltility in males is an

issue with Bleph. Anyone have any other insite on this

??? I believe with your nephew they are two unrelated

issues.

__________________________________________________

[Guest guest]

I'd agree with that, I too, have never been told that males with bleph have problems with infertility, like Sharon said it will be an unrelated issue nothing to do with bpes. There are children-adults with a LOT of unrelated issues within this site, that have nothing to do with having bleph..

-- blepharophimosis Re: My Daughter

I never heard anywhere that feltility in males is anissue with Bleph. Anyone have any other insite on this??? I believe with your nephew they are two unrelatedissues. __________________________________________________

[Guest guest]

Hi

I am quoting from this site:

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

~~~~~~~~~~~~~~~~~~~~~~~~~~~~

Summary

Disease characteristics. Classic blepharophimosis syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. Two types of blepharophimosis syndrome have been described: BPES type I includes the four major features and female infertility caused by premature ovarian failure (POF); BPES type II includes only the four major features. Other ophthalmic manifestations associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic disease-causing mutation are expected to have normal intelligence.

~~~~~~~~~~~~~~~~~~~~~~end of quote

If a female has BPES, they may be Type 1, or Type 2. Sometimes it is not easy to tell which type, especially for a young girl. The infertility is due to Primary Ovarian Failure (note that sometimes you see "premature ovarian failure" as the meaning of POF. I am not a medical person, so I don't know if they are alternatives).

If a male has BPES, they can only be Type 2.

As many others have said, some people have BPES and other complications (but these are unrelated to BPES). Some people in this group don't have BPES, but they have some or most of the features, and also have extra complications (again unrelated to BPES).

I found this site helpful: http://www.endocrineonline.org/pdf%20box/pof.pdf

It has a good explanation of POF.

I hope that this helps.

Regards

Shireen Mohandes

London, England

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of costellosSent: 22 October 2006 22:23blepharophimosis Subject: Re: blepharophimosis Re: My Daughter

I'd agree with that, I too, have never been told that males with bleph have problems with infertility, like Sharon said it will be an unrelated issue nothing to do with bpes. There are children-adults with a LOT of unrelated issues within this site, that have nothing to do with having bleph..

-- blepharophimosis Re: My Daughter

I never heard anywhere that feltility in males is anissue with Bleph. Anyone have any other insite on this??? I believe with your nephew they are two unrelatedissues.

[Guest guest]

You're right. There is no mention in all the literature I have seen of

any male fertility problems associated with either type I or type II

BPES. Some studies talk about the sex of offspring of type I vs type II,

but there is no mention of fertility issues as such.

Rob W

On Sun, 2006-10-22 at 13:29 -0700, Sharon A wrote:

> I never heard anywhere that feltility in males is an

> issue with Bleph. Anyone have any other insite on this

> ??? I believe with your nephew they are two unrelated

> issues.

[Guest guest]

> If a male has BPES, they can only be Type 2.

This is a new one. I don't want to sound incredulous, etc..., but can

you quote a reference for this?

Here's one to chew on in the mean time:

" They [Zlotogora, et al] proposed the existence of two types: type I,

the more common type, in which the syndrome is transmitted by males

only... " and " There is male to male transmission in both types... " (Oley

& Baraitser, 1988)

....and plenty more where that came from, both implied and explicit.

Rob " Doubting " W

[Guest guest]

Hi all

Sorry to slightly clarify what my very good friend Rob says ... but Dr Oley wrote to me,, explaining that what was published back then is no longer valid.

Please see below.

Thanks

Shireen

> From: Oley> Sent: 12 October 2005 08:17> andy.bowles@...> Subject: RE: That question>> Thanks Shireen.> In the article I quote a paper from Zlotogora in 1983 which> talks about the different sex ratios. But I don't think that> information has ever been clarified since, so I don't think> it should be quoted now. > The situation now is: Type I - > 1 in 2 risk of males with type I having affected children, both girls and boys. If females> with type I are able to have children, then they have 1 in 2 risk to both boys and girls.

> Males and females with Type II

> have 1 in 2 risk to both girls and boys.

> I haven't seen any recent papers which talks about skewing of the sex ratios.> I hope this answers your query.> Best wishes,> Chris>> Dr Oley> Consultant Clinical Geneticist> Clinical Genetics Unit> Birmingham Women's Hospital> Metchley Park Road> Edgbaston> Birmingham> UK B15 2TG

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of RobSent: 24 October 2006 11:07blepharophimosis Subject: RE: blepharophimosis Re: My Daughter

> If a male has BPES, they can only be Type 2. This is a new one. I don't want to sound incredulous, etc..., but canyou quote a reference for this?Here's one to chew on in the mean time:"They [Zlotogora, et al] proposed the existence of two types: type I,the more common type, in which the syndrome is transmitted by malesonly..." and "There is male to male transmission in both types..." (Oley & Baraitser, 1988) ...and plenty more where that came from, both implied and explicit.Rob "Doubting " W

[Guest guest]

Thanks Shireen,

Oley is saying that Zlotogora's findings haven't been clarified lately,

so are unconfirmed or at least might be a bit stale. She very carefully

AVOIDS saying that they are not (or no longer) valid. Big difference.

Also, the extract I quoted didn't address sex ratios anyway (nor does

Oley's " The situation now is... " by the way), only transmission, so I'm

not sure how this is relevant.

Be that as it may, my question is around this claim:

> If a male has BPES, they can only be Type 2.

....which is directly contradicted by 's correspondence. Perhaps

you read it somewhere else?

Rob " The Unbeliever " W

On Tue, 2006-10-24 at 19:39 +0100, Andy Bowles & Shireen Mohandes wrote:

> Hi all

> Sorry to slightly clarify what my very good friend Rob says ... but Dr

> Oley wrote to me,, explaining that what was published back then is no

> longer valid.

> Please see below.

> Thanks

> Shireen

>

>

> > From: Oley

> > Sent: 12 October 2005 08:17

> > andy.bowles@...

> > Subject: RE: That question

> >

> > Thanks Shireen.

>

> > In the article I quote a paper from Zlotogora in 1983 which

> > talks about the different sex ratios. But I don't think that

> > information has ever been clarified since, so I don't think

> > it should be quoted now.

>

> > The situation now is: Type I -

>

> > 1 in 2 risk of males with type I having affected children, both

> girls and boys. If females

> > with type I are able to have children, then they have 1 in 2 risk to

> both boys and girls.

> > Males and females with Type II

> > have 1 in 2 risk to both girls and boys.

>

> > I haven't seen any recent papers which talks about skewing of the

> sex ratios.

>

> > I hope this answers your query.

> > Best wishes,

> > Chris

> >

> > Dr Oley

> > Consultant Clinical Geneticist

> > Clinical Genetics Unit

> > Birmingham Women's Hospital

> > Metchley Park Road

> > Edgbaston

> > Birmingham

> > UK B15 2TG

>

> > If a male has BPES, they can only be Type 2.

>

> This is a new one. I don't want to sound incredulous, etc...,

> but can

> you quote a reference for this?

>

> Here's one to chew on in the mean time:

> " They [Zlotogora, et al] proposed the existence of two types:

> type I,

> the more common type, in which the syndrome is transmitted by

> males

> only... " and " There is male to male transmission in both

> types... " (Oley

> & Baraitser, 1988)

> ...and plenty more where that came from, both implied and

> explicit.

>

> Rob " Doubting " W