Re: Job and the Causes for blepharophimosis

[Guest guest]

Hi, All:

Thank you all to talk about the cause for this rare

disorder. I am a chemist and I worked in the Lab

during my pregnency. I was exposed some organic

chemicals and I am think that could cause the mutation

happened. What was your job when you were pregency?

Thanks.

--- Clare Teale <clareteale@...> wrote:

> Hi Amy

> I have BPES (Clare from UK) so does my daughter and

> my son doesnt. My information tells me that BPES is

> caused by a mutated gene in development. My case

> was 'just one of those things'. My daughter (Emy

> Rose) got BPES as I passed the mutated gene to her,

> my son didnt.

>

> If the case is the first like me and your daughter,

> as far as I have been told, its the gene not

> developing correctly and anything you do or dont do

> in pregnancy will not make a difference to this

> gene.

>

> Hope this helps.

>

> Clare

>

> Amy <mamahinch@...> wrote:

> Hi Group,

> Here is a question I have never asked and didn't

> even think of

> until a few minutes ago....The doctors told me that

> a parent that has

> BPES has a 50% chance of passing it on to their

> children. So I

> understand that part about how some of your children

> have gotten it.

> My husbnad abd I took our daughter ( Rose) to a

> genetisist and we

> were told she was a new mutation. I never thought

> to ask was there

> something that during my pregnancy that I may have

> done wrong to

> affect that gene and cause the Bleph? Does anyone

> out there know what

> casues it???

>

> love to all, amy hinchman

>

>

>

>

>

[Guest guest]

Hi

From the material that I have read, I am pretty sure that you (like all the

other mums and dads) have done nothing to cause the mutation.

I am a 44 year old woman, the only person in my family with BPES. My mother

is from England, my father from Iran. I have lived in England for about 28

years.

My mother was a housewife living in a little town in Iran. I don't think she

has ever been in a lab in her life.

I think you will find it helpful to read this article:

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 &

key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

It was written by a doctor in Belgium (Dr Elfride De Baere).

I have been doing some research to find out how many people have BPES. I

worked out that I think it is 1 in 150,000. I disucssed this number with Dr

Kent Small, Dr Oley and Dr Elfride De Baere. They all thought that it

was not an unreasonable estimate.

Take care

Shireen

London, England

> Re: blepharophimosis Job and the Causes for

> blepharophimosis

>

> Hi, All:

>

> Thank you all to talk about the cause for this rare disorder.

> I am a chemist and I worked in the Lab during my pregnency.

> I was exposed some organic chemicals and I am think that

> could cause the mutation happened. What was your job when

> you were pregency?

>

> Thanks.

>

>

>

> --- Clare Teale <clareteale@...> wrote:

>

> > Hi Amy

> > I have BPES (Clare from UK) so does my daughter and my son

> doesnt. My

> > information tells me that BPES is caused by a mutated gene in

> > development. My case was 'just one of those things'. My daughter

> > (Emy

> > Rose) got BPES as I passed the mutated gene to her, my son didnt.

> >

> > If the case is the first like me and your daughter, as far

> as I have

> > been told, its the gene not developing correctly and

> anything you do

> > or dont do in pregnancy will not make a difference to this gene.

> >

> > Hope this helps.

> >

> > Clare

> >

> > Amy <mamahinch@...> wrote:

> > Hi Group,

> > Here is a question I have never asked and didn't even think of

> > until a few minutes ago....The doctors told me that a

> parent that has

> > BPES has a 50% chance of passing it on to their children. So I

> > understand that part about how some of your children have gotten it.

> > My husbnad abd I took our daughter ( Rose) to a

> genetisist and we

> > were told she was a new mutation. I never thought to ask was there

> > something that during my pregnancy that I may have done wrong to

> > affect that gene and cause the Bleph? Does anyone out

> there know what

> > casues it???

> >

> > love to all, amy hinchman

> >

> >

> >

> >

> >

[Guest guest]

No job .... stay at home mom .. for me....

[Guest guest]

I was a fraud investigator and sat in a cubicle all day, so I do not think that had anything to do with it. However I also came down with a very serious viral infection similar to "Parvo" that I feel very strongly effected my son's health while in utero, possibly his genetic make up. He is the first in our family to have this condition. Genetic confirmation may never be available for us because U.S. citizens have to pay for the testing in Belgium or Germany (insurance doesn't cover) and we just do not the $400 Euro to pay for it.

Rae Ann

KORBINTAI2LUV@... wrote:

No job .... stay at home mom .. for me.... __________________________________________________

[Guest guest]

Shireen,

I think that 1 in 150,000 seems to be a huge amount! Do these doctors discuss the ability to "freeze" the gene in the near future. What I mean is when our children decide to have children. Are they close to any type of progress at all on this?

Thank you to you for all you do.

Best,

Pam

[Guest guest]

Wait, I don't understand the diagnosis of a 25% chance of you having a second child with BPES if your first child was a first mutuation w/ no family history of BPES.

Pam

[Guest guest]

Dear

Hello, Clare from UK here.... As far as Im aware there is nothing we can do to change the mutation of this gene. If it happens it happens or it is passed on genetically. My mothere had me 36yrs ago and Im the first with BPES in my family. My mother did absolutely everything 'by the book' when she was pregnant, she didnt drink smoke take any form of over the counter drug, and had a completely natural pregnancy and labour. Yet I was born with BPES, and my sister wasnt. My daughter has it too - passed on through me.

Hope this helps.

clarefrank xue <fxue2000@...> wrote:

Hi, All:Thank you all to talk about the cause for this raredisorder. I am a chemist and I worked in the Labduring my pregnency. I was exposed some organicchemicals and I am think that could cause the mutationhappened. What was your job when you were pregency?Thanks. --- Clare Teale <clareteale@...> wrote:> Hi Amy > I have BPES (Clare from UK) so does my daughter and> my son doesnt. My information tells me that BPES is> caused by a mutated gene in development. My case> was 'just one of those things'. My daughter (Emy> Rose) got BPES as I passed the mutated gene to her,> my son didnt.> > If the case is the first like me and your daughter,> as far as I have been told, its the gene not> developing

correctly and anything you do or dont do> in pregnancy will not make a difference to this> gene.> > Hope this helps.> > Clare > > Amy <mamahinch@...> wrote:> Hi Group,> Here is a question I have never asked and didn't> even think of > until a few minutes ago....The doctors told me that> a parent that has > BPES has a 50% chance of passing it on to their> children. So I > understand that part about how some of your children> have gotten it. > My husbnad abd I took our daughter ( Rose) to a> genetisist and we > were told she was a new mutation. I never thought> to ask was there > something that during my pregnancy that I may have> done wrong to > affect that gene and cause the Bleph? Does anyone> out there know what > casues

it???> > love to all, amy hinchman > > > > >

[Guest guest]

Hi there

Also a stay home mum:) As health conscious as you could be! I took prenatal vitamins, I've never smoked, didn't drink, never done drugs in my life! Our 1st son was born without bleph, but Ethan was????? It is just one of those things....nothing I did or did not do while pregnant caused Ethan to have this, but gosh we LOVE him just the way he is, wouldn't have him any other way:)

Leanne nz

-- Re: blepharophimosis Job and the Causes for blepharophimosis

Hi, All:

Thank you all to talk about the cause for this rare

disorder. I am a chemist and I worked in the Lab

during my pregnency. I was exposed some organic

chemicals and I am think that could cause the mutation

happened. What was your job when you were pregency?

Thanks.

--- Clare Teale <clareteale@...> wrote:

> Hi Amy

> I have BPES (Clare from UK) so does my daughter and

> my son doesnt. My information tells me that BPES is

> caused by a mutated gene in development. My case

> was 'just one of those things'. My daughter (Emy

> Rose) got BPES as I passed the mutated gene to her,

> my son didnt.

>

> If the case is the first like me and your daughter,

> as far as I have been told, its the gene not

> developing correctly and anything you do or dont do

> in pregnancy will not make a difference to this

> gene.

>

> Hope this helps.

>

> Clare

>

> Amy <mamahinch@...> wrote:

> Hi Group,

> Here is a question I have never asked and didn't

> even think of

> until a few minutes ago....The doctors told me that

> a parent that has

> BPES has a 50% chance of passing it on to their

> children. So I

> understand that part about how some of your children

> have gotten it.

> My husbnad abd I took our daughter ( Rose) to a

> genetisist and we

> were told she was a new mutation. I never thought

> to ask was there

> something that during my pregnancy that I may have

> done wrong to

> affect that gene and cause the Bleph? Does anyone

> out there know what

> casues it???

>

> love to all, amy hinchman

>

>

>

>

>

[Guest guest]

I am a stay at home mom as well. I too have led a healthy life style. No illnesses, alcohol or drug use or exposure to chemicals. There is no history of BPES on either side of the families, including myself and spouse. Our daughter, , is the first to have BPES in our families. She is our first born, our second does not have BPES. After s was born we were told there was a 25% chance any subsequent children could also be affected (25% with each pregnancy). Again, niether my husband nor myself have BPES. Is anyone else familiar with these statistics?

Tonya

Portland, Oregon USA

Re: blepharophimosis Job and the Causes for blepharophimosis

Hi, All:

Thank you all to talk about the cause for this rare

disorder. I am a chemist and I worked in the Lab

during my pregnency. I was exposed some organic

chemicals and I am think that could cause the mutation

happened. What was your job when you were pregency?

Thanks.

--- Clare Teale <clareteale@...> wrote:

> Hi Amy

> I have BPES (Clare from UK) so does my daughter and

> my son doesnt. My information tells me that BPES is

> caused by a mutated gene in development. My case

> was 'just one of those things'. My daughter (Emy

> Rose) got BPES as I passed the mutated gene to her,

> my son didnt.

>

> If the case is the first like me and your daughter,

> as far as I have been told, its the gene not

> developing correctly and anything you do or dont do

> in pregnancy will not make a difference to this

> gene.

>

> Hope this helps.

>

> Clare

>

> Amy <mamahinch@...> wrote:

> Hi Group,

> Here is a question I have never asked and didn't

> even think of

> until a few minutes ago....The doctors told me that

> a parent that has

> BPES has a 50% chance of passing it on to their

> children. So I

> understand that part about how some of your children

> have gotten it.

> My husbnad abd I took our daughter ( Rose) to a

> genetisist and we

> were told she was a new mutation. I never thought

> to ask was there

> something that during my pregnancy that I may have

> done wrong to

> affect that gene and cause the Bleph? Does anyone

> out there know what

> casues it???

>

> love to all, amy hinchman

>

>

>

>

>

[Guest guest]

I WAS ALWAYS TOLD THERE WAS A 50/50 CHANCE. Tonya Melton <tonya@...> wrote:

I am a stay at home mom as well. I too have led a healthy life style. No illnesses, alcohol or drug use or exposure to chemicals. There is no history of BPES on either side of the families, including myself and spouse. Our daughter, , is the first to have BPES in our families. She is our first born, our second does not have BPES. After s was born we were told there was a 25% chance any subsequent children could also be affected (25% with each pregnancy). Again, niether my husband nor myself have BPES. Is anyone else familiar with these statistics?

Tonya

Portland, Oregon USA

Re: blepharophimosis Job and the Causes for blepharophimosis

Hi, All:

Thank you all to talk about the cause for this rare

disorder. I am a chemist and I worked in the Lab

during my pregnency. I was exposed some organic

chemicals and I am think that could cause the mutation

happened. What was your job when you were pregency?

Thanks.

--- Clare Teale <clareteale@...> wrote:

> Hi Amy

> I have BPES (Clare from UK) so does my daughter and

> my son doesnt. My information tells me that BPES is

> caused by a mutated gene in development. My case

> was 'just one of those things'. My daughter (Emy

> Rose) got BPES as I passed the mutated gene to her,

> my son didnt.

>

> If the case is the first like me and your daughter,

> as far as I have been told, its the gene not

> developing correctly and anything you do or dont do

> in pregnancy will not make a difference to this

> gene.

>

> Hope this helps.

>

> Clare

>

> Amy <mamahinch@...> wrote:

> Hi Group,

> Here is a question I have never asked and didn't

> even think of

> until a few minutes ago....The doctors told me that

> a parent that has

> BPES has a 50% chance of passing it on to their

> children. So I

> understand that part about how some of your children

> have gotten it.

> My husbnad abd I took our daughter ( Rose) to a

> genetisist and we

> were told she was a new mutation. I never thought

> to ask was there

> something that during my pregnancy that I may have

> done wrong to

> affect that gene and cause the Bleph? Does anyone

> out there know what

> casues it???

>

> love to all, amy hinchman

>

>

>

>

>

[Guest guest]

We were told our daughter would have a 50% chance on her pregnancies because she has BPES. Since my husband and I don't.... the number was up to 25%. I guess because it is such a huge unknown as to where this gene came from.

Thanks

Re: blepharophimosis Job and the Causes for blepharophimosis

Hi, All:

Thank you all to talk about the cause for this rare

disorder. I am a chemist and I worked in the Lab

during my pregnency. I was exposed some organic

chemicals and I am think that could cause the mutation

happened. What was your job when you were pregency?

Thanks.

--- Clare Teale <clareteale@...> wrote:

> Hi Amy

> I have BPES (Clare from UK) so does my daughter and

> my son doesnt. My information tells me that BPES is

> caused by a mutated gene in development. My case

> was 'just one of those things'. My daughter (Emy

> Rose) got BPES as I passed the mutated gene to her,

> my son didnt.

>

> If the case is the first like me and your daughter,

> as far as I have been told, its the gene not

> developing correctly and anything you do or dont do

> in pregnancy will not make a difference to this

> gene.

>

> Hope this helps.

>

> Clare

>

> Amy <mamahinch@...> wrote:

> Hi Group,

> Here is a question I have never asked and didn't

> even think of

> until a few minutes ago....The doctors told me that

> a parent that has

> BPES has a 50% chance of passing it on to their

> children. So I

> understand that part about how some of your children

> have gotten it.

> My husbnad abd I took our daughter ( Rose) to a

> genetisist and we

> were told she was a new mutation. I never thought

> to ask was there

> something that during my pregnancy that I may have

> done wrong to

> affect that gene and cause the Bleph? Does anyone

> out there know what

> casues it???

>

> love to all, amy hinchman

>

>

>

>

>

[Guest guest]

Tonya,

My daughter ( Rose) was also a first mutation. The genetics

doc told us that if had children, that she has a 50% chance.

He also told us that if we had another baby, the chance of having

BPES was highly unlikely. is #8 in the line up of kids and

the only one to have it. Not sure if I want to have #9, so I may

never know!!!

blessings, amy

West Mifflin, PA

> > Hi Group,

> > Here is a question I have never asked and didn't

> > even think of

> > until a few minutes ago....The doctors told me that

> > a parent that has

> > BPES has a 50% chance of passing it on to their

> > children. So I

> > understand that part about how some of your children

> > have gotten it.

> > My husbnad abd I took our daughter ( Rose) to a

> > genetisist and we

> > were told she was a new mutation. I never thought

> > to ask was there

> > something that during my pregnancy that I may have

> > done wrong to

> > affect that gene and cause the Bleph? Does anyone

> > out there know what

> > casues it???

> >

> > love to all, amy hinchman

> >

> >

> >

> >

> >

[Guest guest]

,

I was working in a hospital emergency room in Jan of 2004. I quit

my job shortly after (we had a daughter with Lymphoma Cancer) and

within 2 weeks I found out I was pregnant with . So I was a

stay at home mom during the pregnancy. And I still am!!!

blessings, amy

West Mifflin, PA

> > Hi Group,

> > Here is a question I have never asked and didn't

> > even think of

> > until a few minutes ago....The doctors told me that

> > a parent that has

> > BPES has a 50% chance of passing it on to their

> > children. So I

> > understand that part about how some of your children

> > have gotten it.

> > My husbnad abd I took our daughter ( Rose) to a

> > genetisist and we

> > were told she was a new mutation. I never thought

> > to ask was there

> > something that during my pregnancy that I may have

> > done wrong to

> > affect that gene and cause the Bleph? Does anyone

> > out there know what

> > casues it???

> >

> > love to all, amy hinchman

> >

> >

> >

> >

> >

[Guest guest]

Hi

Regarding causes for BPES, I think it's natural to want an

explanation for things, why does my child have this, what did I do??

Just like if your child has anything distinctive or any type of

problem " why does my child misbehave in school, why is my child a

genius when I am not, etc " The list goes on and on... My grandfather

was the first one in our family, and since then there has been only

one child each generation, my dad, then me, now my daughter. It's

just one of those things, you can't blame yourself or something you

did or didn't do. So far I have 1 wonderful daughter with BPES.

Also, what we view as perfectly healthy behavior today, was

something quite different in the past, and no doubt will change in

the future.

take care

Beth

> > > Hi Group,

> > > Here is a question I have never asked and didn't

> > > even think of

> > > until a few minutes ago....The doctors told me that

> > > a parent that has

> > > BPES has a 50% chance of passing it on to their

> > > children. So I

> > > understand that part about how some of your children

> > > have gotten it.

> > > My husbnad abd I took our daughter ( Rose) to a

> > > genetisist and we

> > > were told she was a new mutation. I never thought

> > > to ask was there

> > > something that during my pregnancy that I may have

> > > done wrong to

> > > affect that gene and cause the Bleph? Does anyone

> > > out there know what

> > > casues it???

> > >

> > > love to all, amy hinchman

> > >

> > >

> > >

> > >

> > >