Re: Will my next baby have BPES?

[Guest guest]

---

Donna,

My husband too has the fear so we will not be having another child.

If I understand correctly as you have seen with your other children

not having Bleph, Ther reall isn't a clear answer to this except it

is up to God. I have no known signs of this in our family either,

but I do know that Heavenly father only give these special children

to thos he knows can take good care of them, that is if they are

willing to learn and try and trust themselves. I hope it is okay to

mention religious stuff on this site. That is how I feel

With love and concern

In blepharophimosis , " newhavenmama "

<newhavenmama@h...> wrote:

>

> Hi all,

> I haven't posted much here but when I have, I just get overwhelmed

> with the response - it has helped so much since Halle's diagnosis

of

> bleph in November. Halle is now 10mos old and doing wonderfully!

>

> My question is not directly related to Halle this time. I've

always

> wanted to have 4 children...just something I've told people even

when

> I was a little girl. My son is now 9, my daughter is 6 and Halle

is

> 10mos. Halle was the first to have bleph - in our family, and in

> this province!

>

> So my question is this....does this mean that either myself or my

> husband now carry this gene permanently? Or was it a one time

thing?

> I know that Halle has this and will have 50-50 chance of passing

it

> on to her children. But what about another child that I would

have?

> In all honesty, it would not affect my decision one way or another

> but I know it would my husbands. The geneticist we saw in November

> mentioned testing on me and my husband...what are they testing

for?

> To see if we carry this gene? Is that something they can find out?

>

> I had emailed all these questions to the geneticist hoping for

> answers but she merely told me that we would discuss it all at our

> next appointment in April. Well, I'm not getting any younger and

am

> anxious to start trying.

>

> Any words of wisdom here? I hate not knowing the answers to these

> questions !@#%$@ If any of you can help me, I would really

> appreciate it!!!

>

> Hugs to you all!

> Donna

[Guest guest]

Donna,

I have no idea the answer to your questions ..but I have two boys with Bleph (10 & 13) I am currently pregnant with my 3rd ( which is a little girl ! Yahhh! ) I am scared to death that she will have Bleph. I have always wanted another child and hoped to try for a girl. I go to bed almost everynight dreaming of her and the problems she "may have" My boys have done great with it and to me there is nothing wrong with the way they look and would be able to deal with it if my daughter has it too. ..But let me tell you how mentally draining it has been "praying" she doesn't have it. I agree God gives you what you can handle and i have been through more than my share in this life....Hoping this time he thinks I have had enough lol

Moral of the story ....You will love them no matter what and leave it up to faith as to what happens. If you feel as a family you can deal with it ...GO FOR IT ! :-) I feel like i waited forever because of it ....I wish i could turn back the hands of time. When i got pregnant (planned) this time ...Friends made comments like " Are you sure you don't want to have doner sperm, so the baby will be ok " or "What if it is a little girl, she will have to deal with this her whole life" ...Well so do my sons - do their feelings not count ? People are so stupid - Especially people who are close to us. I will love and adore her no matter what ....and just pray she has it easier than my boys ...Sorry for rambling but this is always a touchie subject with me ...and at least you all understand ....Hugs, Sharon I chatthisway <mulvaneyclan@...> wrote:

---Donna, My husband too has the fear so we will not be having another child.If I understand correctly as you have seen with your other children not having Bleph, Ther reall isn't a clear answer to this except it is up to God. I have no known signs of this in our family either, but I do know that Heavenly father only give these special children to thos he knows can take good care of them, that is if they are willing to learn and try and trust themselves. I hope it is okay to mention religious stuff on this site. That is how I feelWith love and concernIn blepharophimosis , "newhavenmama" <newhavenmama@h...> wrote:> > Hi all,> I haven't posted much here but when I have, I just get overwhelmed >

with the response - it has helped so much since Halle's diagnosis of > bleph in November. Halle is now 10mos old and doing wonderfully! > > My question is not directly related to Halle this time. I've always > wanted to have 4 children...just something I've told people even when > I was a little girl. My son is now 9, my daughter is 6 and Halle is > 10mos. Halle was the first to have bleph - in our family, and in > this province!> > So my question is this....does this mean that either myself or my > husband now carry this gene permanently? Or was it a one time thing? > I know that Halle has this and will have 50-50 chance of passing it > on to her children. But what about another child that I would have? > In all honesty, it would not affect my decision one way or another > but I know it would my husbands. The geneticist we saw

in November > mentioned testing on me and my husband...what are they testing for? > To see if we carry this gene? Is that something they can find out?> > I had emailed all these questions to the geneticist hoping for > answers but she merely told me that we would discuss it all at our > next appointment in April. Well, I'm not getting any younger and am > anxious to start trying. > > Any words of wisdom here? I hate not knowing the answers to these > questions !@#%$@ If any of you can help me, I would really > appreciate it!!!> > Hugs to you all!> Donna

[Guest guest]

Sharon (and !)

Thanks for your posts. I totally understand where you both are coming

from. Sometimes I get mad at myself and think 'if I knew now that

there was a 50-50 chance that my kids might have bleph before I had

them, would I have had all 3??? OF COURSE! I can not imagine my life

without my children and I guess thats how we should think of our next

one - because bleph or no bleph, he/she will be a wonderful addition

to our family and will be loved dearly. But I can also understand it

makes that decision just a little harder and a bit more complicated.

I guess its just natural to want to have that perfect healthy baby -

and to know ahead of time that this little person is going to have to

endure certain things that other children don't, is hard to deal

with. I guess its 'talk' time with hubby. I wish I could just say

what I feel but sheeesh! when I start to talk, it just doesn't come

out right. I know if he's not okay with it, then that will just have

to be the end of it. I also know that Halle has Daddy wrapped around

her little finger so maybe he will look at it from that

perspective.

I would still love to know the answers to my questions - so if

there's anyone out there who knows....please pass along any info! I

read and surf the net for awhile but some of it just gets way to

technical!!

Thanks again girls for your posts! And you're right - this is a great

place to talk about your feelings and know that everyone understands!

Hugs,

Donna

> >

> > Hi all,

> > I haven't posted much here but when I have, I just get

overwhelmed

> > with the response - it has helped so much since Halle's diagnosis

> of

> > bleph in November. Halle is now 10mos old and doing wonderfully!

> >

> > My question is not directly related to Halle this time. I've

> always

> > wanted to have 4 children...just something I've told people even

> when

> > I was a little girl. My son is now 9, my daughter is 6 and Halle

> is

> > 10mos. Halle was the first to have bleph - in our family, and in

> > this province!

> >

> > So my question is this....does this mean that either myself or my

> > husband now carry this gene permanently? Or was it a one time

> thing?

> > I know that Halle has this and will have 50-50 chance of passing

> it

> > on to her children. But what about another child that I would

> have?

> > In all honesty, it would not affect my decision one way or

another

> > but I know it would my husbands. The geneticist we saw in

November

> > mentioned testing on me and my husband...what are they testing

> for?

> > To see if we carry this gene? Is that something they can find out?

> >

> > I had emailed all these questions to the geneticist hoping for

> > answers but she merely told me that we would discuss it all at

our

> > next appointment in April. Well, I'm not getting any younger and

> am

> > anxious to start trying.

> >

> > Any words of wisdom here? I hate not knowing the answers to these

> > questions !@#%$@ If any of you can help me, I would really

> > appreciate it!!!

> >

> > Hugs to you all!

> > Donna

>

>

>

>

>

>

[Guest guest]

Hi to Donna and all,

My husband and I are also in the same situation at the moment. We have decided to have a 3rd child:) Ethan our 2nd son was born with bleph, the first in the family to have this also. So our decision wasn't based around Ethan having bleph, it was more, do we want to go through having a 3rd baby! Yes we do:) I loved been pregnant, apart from the morning sickness! Ethan would make anyone want to have a baby! He is the most beautiful, placid, gentle wee guy you could imagine:) Of course we would love a wee girl, as we have 2 boys, but atleast we have everything for a boy! The only thing that would upset us a bit, would be having a girl with bleph, as they could have POF, that would be hard, but we really think the odds are very slim, but if not oh well:) another Ethan! perfect:)

So good luck for you Donna in your decision, and fingers crossed for us trying:)

Leanne and family:)

-- blepharophimosis Will my next baby have BPES?

Hi all,

I haven't posted much here but when I have, I just get overwhelmed

with the response - it has helped so much since Halle's diagnosis of

bleph in November. Halle is now 10mos old and doing wonderfully!

My question is not directly related to Halle this time. I've always

wanted to have 4 children...just something I've told people even when

I was a little girl. My son is now 9, my daughter is 6 and Halle is

10mos. Halle was the first to have bleph - in our family, and in

this province!

So my question is this....does this mean that either myself or my

husband now carry this gene permanently? Or was it a one time thing?

I know that Halle has this and will have 50-50 chance of passing it

on to her children. But what about another child that I would have?

In all honesty, it would not affect my decision one way or another

but I know it would my husbands. The geneticist we saw in November

mentioned testing on me and my husband...what are they testing for?

To see if we carry this gene? Is that something they can find out?

I had emailed all these questions to the geneticist hoping for

answers but she merely told me that we would discuss it all at our

next appointment in April. Well, I'm not getting any younger and am

anxious to start trying.

Any words of wisdom here? I hate not knowing the answers to these

questions !@#%$@ If any of you can help me, I would really

appreciate it!!!

Hugs to you all!

Donna

[Guest guest]

>

> Donna,

Before answering your question, I will quickly explain my history

with BPES.

My husband was diagnosed 32 years ago, after many referrals, with

congenital pstosis. When we decided to have a baby we were assured

that this was not a heriditary condition. Upon the birth of my

beautiful, bright and wonderful son it became apparent that he had

inherited his father's " condition " . Four weeks after my son's birth

he was diagnosed with BPES.

We are so thankful that our son has been correctly diagnosed as the

genetic clinic have been so helpful and have done so much for us.

Basically, we have a 50/50 chance of having a baby with BPES.

However, as my husband's brother does not have the condition it will

not be carried (as has not been) to his children.

I would advise to take the time to talk to geneticist. I am not

getting any younger myself, but believe that their expertise,

experience and intelligence is worth the wait even though

appointments may not be frequent. Our geneticist and his cousellor

are amazing.

My husband undertook the testing to see whether or not they could

identify the " mutated " gene. There was only a 50/50 chance of

finding the gene, but they did find the " mutated " gene. With this

knowledge we are enabled with more of an ability to make decisions

in the future.

On a further point to other persons who may read this message,

please respect your doctors and specialists as they have many years

of experience and study. The condition is vary rare, and even

though they may appear uncaring it is because they have no

experience and are interested in the condition. For example, I took

my son to emergency as he was very ill with vomiting. The doctor,

for a moment, was fascinated with my son's eye condition as he had

never seen it - as had no-one in ever my town of 40,000 people.

Good luck in the future.

Liz

Hi all,

> I haven't posted much here but when I have, I just get overwhelmed

> with the response - it has helped so much since Halle's diagnosis

of

> bleph in November. Halle is now 10mos old and doing wonderfully!

>

> My question is not directly related to Halle this time. I've

always

> wanted to have 4 children...just something I've told people even

when

> I was a little girl. My son is now 9, my daughter is 6 and Halle

is

> 10mos. Halle was the first to have bleph - in our family, and in

> this province!

>

> So my question is this....does this mean that either myself or my

> husband now carry this gene permanently? Or was it a one time

thing?

> I know that Halle has this and will have 50-50 chance of passing

it

> on to her children. But what about another child that I would

have?

> In all honesty, it would not affect my decision one way or another

> but I know it would my husbands. The geneticist we saw in November

> mentioned testing on me and my husband...what are they testing

for?

> To see if we carry this gene? Is that something they can find out?

>

> I had emailed all these questions to the geneticist hoping for

> answers but she merely told me that we would discuss it all at our

> next appointment in April. Well, I'm not getting any younger and

am

> anxious to start trying.

>

> Any words of wisdom here? I hate not knowing the answers to these

> questions !@#%$@ If any of you can help me, I would really

> appreciate it!!!

>

> Hugs to you all!

> Donna

[Guest guest]

Hi Liz

I wholeheartedly agree with what you say. Thank you for taking the trouble to put together the advice.

From an information point of view, I would like to supply you with this quote:

Apologies in advance, if some people find this text a bit difficult to understand. The good news is that your doctor will be able to explain it to you in a simple way. I have pasted in some definitions of words.

phenotype: The observable physical and/or biochemical characteristics of the expression of a gene; the clinical presentation of an individual with a particular genotype

autosomal dominant: Describes a trait or disorder in which the phenotype is expressed in those who have inherited only one copy of a particular gene mutation (heterozygotes); specifically refers to a gene on one of the 22 pairs of autosomes (non-sex chromosomes)

proband: The affected individual through whom a family with a genetic disorder is ascertained; may or may not be the consultand (the individual presenting for genetic counseling)

mutation: Any alteration in a gene from its natural state; may be disease-causing or a benign, normal variantunaffected: An individual who does not manifest any symptoms of a particular condition

affected: An individual who manifests symptoms of a particular condition

germline mosaicism: Two or more genetic or cytogenetic cell lines confined to the precursor (germline) cells of the egg or sperm; formerly called gonadal mosaicism

mutation: Any alteration in a gene from its natural state; may be disease-causing or a benign, normal variant

penetrance: The proportion of individuals with a mutation causing a particular disorder who exhibit clinical symptoms of that disorder; most often refers to autosomal dominant conditions.

Mode of Inheritance

Blepharophimosis, ptosis, and epicanthus inversus syndrome is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

Many individuals diagnosed with BPES have an affected parent. A proband with BPES may have the disorder as the result of a de novo gene mutation. The proportion of cases caused by de novo mutations is estimated at more than 50% (unpublished data). Recommendations for the evaluation of parents of a proband with an apparent de novo mutation include molecular genetic testing of the FOXL2 gene if a mutation has been identified in the proband and clinical examination for subtle features of BPES (although nonpenetrance or incomplete penetrance has not been reported to date).

Sibs of a proband

The risk to the sibs of the proband depends upon the genetic status of the proband's parents.

If a parent of the proband is affected, the risk to the sibs is 50%.

When the parents are clinically unaffected and do not have a FOXL2 mutation, the risk to the sibs of a proband appears to be low.

If a disease-causing FOXL2 mutation cannot be detected in the DNA of either parent, two possible explanations are germline mosaicism in a parent or a de novo mutation in the proband. The risk to the sibs of the proband depends on the probability of germline mosaicism in a parent of the proband and the spontaneous mutation rate of FOXL2. Germline mosaicism has been observed in BPES [unpublished data], although its incidence is currently unknown.

Offspring of a proband. Each child of an individual with BPES has a 50% chance of inheriting the mutation.

Other family members of a proband. The risk to other family members depends upon the genetic status of the proband's parents. If a parent is found to be affected, his or her family members are at risk.

The full article can be found here:

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

I hope this information helps

Shireen

From: lizzy72mal [mailto:lizzy72mal@...] Sent: 18 February 2005 14:10blepharophimosis Subject: blepharophimosis Re: Will my next baby have BPES?

> > Donna,Before answering your question, I will quickly explain my history with BPES.My husband was diagnosed 32 years ago, after many referrals, with congenital pstosis. When we decided to have a baby we were assured that this was not a heriditary condition. Upon the birth of my beautiful, bright and wonderful son it became apparent that he had inherited his father's "condition". Four weeks after my son's birth he was diagnosed with BPES.We are so thankful that our son has been correctly diagnosed as the genetic clinic have been so helpful and have done so much for us. Basically, we have a 50/50 chance of having a baby with BPES. However, as my husband's brother does not have the condition it will not be carried (as has not been) to his children.I would advise to take the time to talk to geneticist. I am not getting any younger myself, but believe that their expertise, experience and intelligence is worth the wait even though appointments may not be frequent. Our geneticist and his cousellor are amazing. My husband undertook the testing to see whether or not they could identify the "mutated" gene. There was only a 50/50 chance of finding the gene, but they did find the "mutated" gene. With this knowledge we are enabled with more of an ability to make decisions in the future. On a further point to other persons who may read this message, please respect your doctors and specialists as they have many years of experience and study. The condition is vary rare, and even though they may appear uncaring it is because they have no experience and are interested in the condition. For example, I took my son to emergency as he was very ill with vomiting. The doctor, for a moment, was fascinated with my son's eye condition as he had never seen it - as had no-one in ever my town of 40,000 people. Good luck in the future.LizHi all,> I haven't posted much here but when I have, I just get overwhelmed > with the response - it has helped so much since Halle's diagnosis of > bleph in November. Halle is now 10mos old and doing wonderfully! > > My question is not directly related to Halle this time. I've always > wanted to have 4 children...just something I've told people even when > I was a little girl. My son is now 9, my daughter is 6 and Halle is > 10mos. Halle was the first to have bleph - in our family, and in > this province!> > So my question is this....does this mean that either myself or my > husband now carry this gene permanently? Or was it a one time thing? > I know that Halle has this and will have 50-50 chance of passing it > on to her children. But what about another child that I would have? > In all honesty, it would not affect my decision one way or another > but I know it would my husbands. The geneticist we saw in November > mentioned testing on me and my husband...what are they testing for? > To see if we carry this gene? Is that something they can find out?> > I had emailed all these questions to the geneticist hoping for > answers but she merely told me that we would discuss it all at our > next appointment in April. Well, I'm not getting any younger and am > anxious to start trying. > > Any words of wisdom here? I hate not knowing the answers to these > questions !@#%$@ If any of you can help me, I would really > appreciate it!!!> > Hugs to you all!> Donna

[Guest guest]

sorry guys - that last post was from Shireen Mohandes

It came out with the sender being "Andy Bowles".

Sorry to have caused confusion

Shireen

[Guest guest]

Hi Leanne!

Believe it or not, I'm just getting your email now as my computer at home has been on the blink so I'm 'borrowing' my sisters!

Thanks for replying - its always so reassuring to hear that others are experiencing the feelings that I have. I think its wonderful that you've decided to have another baby!! And I hope you get that little girl - although I know you would be just as pleased with another boy! Because we have 1 boy and 2 girls, I would be happy either way, also. It would be nice to have another girl so she and Halle would be close in age, though (and I wouldn't have to buy anything!! - My son is 9 and I've long since gotten rid of his baby stuff!!)

I'm sure you've read the info that Shireen sent regarding the likelyhood of another child having bleph. Have you and your hubby been tested? Do you plan to? I've come to the conclusion that it really doesn't matter. What matters is having another baby - not the odds that he/she might have bleph. If we had been told before conceiving Halle that we might have a bleph baby, I would like to think that it wouldn't have made a difference...as I CANNOT imagine her NOT in our lives!!

I know my hubby is still on the fence about baby#4 - not because of the bleph just because it would be #4 Sometimes I wish life were more like it was in our parent generation - when you just stayed at home and had kids and looked after the house, farm, etc. I hate that our decision to have kids has to be based on income. I would love to win a lottery tomorrow - not to buy cars and houses and yachts...but just enough so I could stay home and have more kids!!

Anyway - I will be anxiously awaiting your BIG NEWS when it happens!! Best of luck and I shall send some babydust your way!!

Hugs,

Donna

>From: "costellos" <tltne@...>

>Reply-blepharophimosis

><blepharophimosis >

>Subject: Re: blepharophimosis Will my next baby have BPES?

>Date: Wed, 9 Feb 2005 12:04:25 +1300 (New Zealand Daylight Time)

>

>Hi to Donna and all,

>

>My husband and I are also in the same situation at the moment. We have

>decided to have a 3rd child:) Ethan our 2nd son was born with bleph, the

>first in the family to have this also. So our decision wasn't based around

>Ethan having bleph, it was more, do we want to go through having a 3rd baby!

>Yes we do:) I loved been pregnant, apart from the morning sickness! Ethan

>would make anyone want to have a baby! He is the most beautiful, placid,

>gentle wee guy you could imagine:) Of course we would love a wee girl, as we

>have 2 boys, but atleast we have everything for a boy! The only thing that

>would upset us a bit, would be having a girl with bleph, as they could have

>POF, that would be hard, but we really think the odds are very slim, but if

>not oh well:) another Ethan! perfect:)

>

>So good luck for you Donna in your decision, and fingers crossed for us

>trying:)

>

>Leanne and family:)

>

>-- blepharophimosis Will my next baby have BPES?

>

>

>Hi all,

>I haven't posted much here but when I have, I just get overwhelmed

>with the response - it has helped so much since Halle's diagnosis of

>bleph in November. Halle is now 10mos old and doing wonderfully!

>

>My question is not directly related to Halle this time. I've always

>wanted to have 4 children...just something I've told people even when

>I was a little girl. My son is now 9, my daughter is 6 and Halle is

>10mos. Halle was the first to have bleph - in our family, and in

>this province!

>

>So my question is this....does this mean that either myself or my

>husband now carry this gene permanently? Or was it a one time thing?

>I know that Halle has this and will have 50-50 chance of passing it

>on to her children. But what about another child that I would have?

>In all honesty, it would not affect my decision one way or another

>but I know it would my husbands. The geneticist we saw in November

>mentioned testing on me and my husband...what are they testing for?

>To see if we carry this gene? Is that something they can find out?

>

>I had emailed all these questions to the geneticist hoping for

>answers but she merely told me that we would discuss it all at our

>next appointment in April. Well, I'm not getting any younger and am

>anxious to start trying.

>

>Any words of wisdom here? I hate not knowing the answers to these

>questions !@#%$@ If any of you can help me, I would really

>appreciate it!!!

>

>Hugs to you all!

>Donna

>

>

>

>

>

>