Testing

[Guest guest]

Hi Brittany

Welcome to the group.

It is certainly true that there is a 50/50 chance that BPES will

be passed on.

If you would like to know a bit more then please read 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

the part that deals with one of your questions is quoted here:

(in particular I have put the text in red)

Risk to Family Members

Parents of a proband

·

Some

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estimated at more than 50% [unpublished data].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.

Note: Variable expressivity of BPES

features has only been reported in mosaic cases [unpublished data].

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 and demonstrated at the molecular level [beysen et al 2005]; its incidence is 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.

Regarding your first question, I am sorry but I don’t know

the answer.

Take care

Shireen Mohandes

London, England

(I am 47, I have BPES, and am the only person in my family with

BPES)

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of ceccles_ca

Sent: 28 December 2008 04:44

blepharophimosis

Subject: blepharophimosis Re: testing

I think that 50/50 chance is true.

I think that there is a test.

>

> 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?

>

[Guest guest]

Astrid,

To be honest all this sounds rather unbelievable to me. Abortion, if the foetus has BPES, although your partner has BPES himself? Abortion in case the foetus will be a girl, just because she might suffer from POF (Premature Ovarian failure) when she is 25? Again, BPES1 does not result in complete infertility! Who knows how far technology has developed until then. Donor Egg IVF with own donor eggs will be possible very soon for women who suffer from POF. How can you decide if life with BPES and or POF is worth living or not? Would you have the baby if he is a boy with BPES? Or do you want to eradicate this for all future generations?

I really do not want to offend you, but for me as a mother of a girl with BPES1 all this sounds really cold blooded. Is the condition of BPES or POF reason enough for an abortion? Have you thought about other possible diseases your baby might have, either during pregnancy or later in life, possibly much worse than POF or small eyes? You cannot screen your entire genetic material, just to sort all the bad staff out. During Pregnancy there is always an element of risk, not only from the genetic point of view. Just to make this clear, I am not against abortion in general, I believe that every woman should have the right to choose – under certain circumstances. However, this is an exception as it is gambling with nature. This would be a planned abortion or at least genetic selection consequently resulting in abortion with a 50/50% chance. And how can it be justified by using the waste of the aborted baby for further testing?

I apologize for being so open, please don’t take it personally, I don’t know you, but you started the topic and I just want to voice my opinion.

Good luck for you.

Regards, Anja

blepharophimosis From: astrid_31@...Date: Mon, 29 Dec 2008 13:50:32 +0000Subject: Re : Re : blepharophimosis testing

Hello!

Thanks for your message.

It is indeed what I meant by avoiding...

We have met specialists in genetics, who have been working during 2 years on IVF treament to "choose" unaffected embryos, but the problem is that they hadn't enough "material" to work on, since my husband is the first one in his family having BPES... Since we knew it was the type related to female infertility, we really wanted to avoid transmitting it, and wanted to have this test before getting pregnant ... but now it seems that it's not possible to realize an IVF treatment for now... The geneticians have suggested us, to get naturally pregnant, and perform the test on the embryo (at 10 weeks), and taking then the decision to keep him/her once we know if (s)he is affected.... And the positive thing is that the cells of this embryo (affected or no), will be additional material to realize the IVF test.... which is a good news....

We think we will try this 2nd method (test while pregnant) and really hope we will be lucky! and for the 2nd baby (we dream about having 3... but we'll see :-) ), we hope to be able to have a IVF treatment...

It is hard but I really don't want to transmit this to the future generations... I wouldn't be able to tell later to my future daughter we knew she wouldn't be able to have babies (or not after 20 years.. sth like this) and that we knew before getting pregnant that she had 50% chance to have it!

All these reflections result for a long process...We have been followed by psychologists since the begin of the researchs (2 years ago) and now we are better and ready !

My husband told me about BPS from the beginning of our relationship. He had so much suffered from this when he was a child (having more than 10 surgeries, whose 2 of them were barely fatal because of infection...) and you parents know how children can be naughty with other children who are "different".... He has grown up with that, and is now stronger in his mind (he has studied medicine and is now a very human doctor) but he feels so guilty with that....now he knows he can transmit it... I think it would be very hard if we had a child with BPES... If it was only about the shapes of the eyes, taking such a decision would be more "esthetic" (even if it would be already hard for my husband... but I personally couldn't abord if it is was "only" that...) but with the early infertility problem, we think we must avoid it for our children... and the future generations...

I wish you all the best with your Charlie and your future children.

Thanks for your support,

Astrid.

De : talia.goodger <talia.goodger >À : blepharophimosis Envoyé le : Lundi, 29 Décembre 2008, 2h15mn 17sObjet : 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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[Guest guest]

Astrid and AnjaAnja, I do not reply often on this site either but I have got to agree with you 100% concerning this thread.Astrid, I personally felt rather offended by some of the comments previously made. I understand these are not meant to offend and that everyone has their own choices, decisions and opinions. But, I was slightlv horrified at the tone of the email about "picking babies". I feel this is such a sensitive subject these days that you should keep this to yourself. Some people dont have this "lucky" choice in life. Personally it sounds like you are abusing your positions as doctors or being in the know and helping yourselves as opposed to anyone else with BP or infertility problems not related to BP.I have 3 friends undergone IVF ( for various reasons), none of them have BP, they have all been

successful and glad to have or be having a child. They do not know what will happen. They do not know what will be passed on to their child, Thats part of life! Do you know all your family genes or are you going to screen every egg to have that perfect child. I hope he/she meets your expectations ie, the nose isnt a little on the large side! Infertility is a sad fact of life and for some people there are unfortunately no reasons. You would have an explanation.I appreciate parents who have children to save another childs life for whatever reason. These are completely different and I will not discuss this side of selection. BP is not necessarily itself life threatening. ( I note your points on your husbands surgery and I have had surgeries too along with the rest of my family. As any doctor will tell you there is a risk with any operation.) And there are many worse things to pass on that

should be looked to be "not transmitted to future gens" ie, life threatening diseases, illnesses, cancers, meningitits, aids etc.. You make us sound like we should be wiped off the planet indefinetly. Surely your husband as a doctor doesnt think this too? Can i also ask, was your husband not human before he became a doctor? Did he not feel human because he had BP, that is how that sentence came across?I have a son with BP, I have BP myself and I personally think with help from ourselves assisting with tests etc then the doctors can get more medical advice and hopefully learn more. Oh and also massive thanks for this support group. This is invaluable. Doctors have contacted us through this sight for research. Its great. Why dont you go along these lines instead of wiping it out. Try and resolve the infertility? Help people, if you have had all this

research, following and professional help - way more than anyone else then why not share it with us. I understand that you do not want to pass on infertility. But I also want to show what choices you have in life. I did not know I had BP until my neice was born and the thought of never being able to have children or passing my BP on, was never a thought to me. I didnt stop and even discuss with my partner BP and what if our child had my eyes becase it was not an issue and yes I got taunted at school just like everyone else. I didnt even know I could have been infertile until I found this website."I think it would be very hard if we had a child with BPES... If it was

only about the shapes of the eyes, taking such a decision would be more

"esthetic........"Do you feel the same about anyone with anything that is not" normal " to you. What about clef lip and pallet? Should that be eradicated too? ......."And you parents know how children can be naughty with other children who are "different".. All I can say to this is it doesnt matter if you have umbro trainers instead of nike, your mum is fat down at the school, you are ginger haired, have ADHD, are a long haired boy, you are beautiful and nice or whatever... Children will always say something and children are more open minded these days than they used to be. Parents have a lot to answer for themselves. Children only are what they are and how they are brought up. You bring your child up open minded, to make their own opinions, confident then that can be half the battle, not to be pass remarkable but can stick up for themselves. I remember watching the programme about the

grown up in Scotland who said he would would move his child to America to live if he was born ginger haired rather than put him through the torment of abuse he got as a child. What are we going to do, wipe out gingers too to avoid taunts!!!! Thats me had it then as I have BP and I am ginger. What if you screen your child, have the one without BP and then he/she gets something worse. How would you feel? You spent years trying to get the perfect child. What if down the line, your genes carry something else you didnt know about, explain that to him/her..... " Sorry love, we tried to make you perfect but we didnt know about those genes............" what is he/she doesnt want kids anyway, cant have them for another reason or meets a partner who cant have them. All that for nothing! You dont know, you are setting your childs life out how you want it. Or you can turn around and say " Yes you

are ours, yes you have BP, yes you are beautiful, we love you and we wanted you and wouldnt have you any other way. You are part of me and your Dad and your Dad has BP and now you have it. We as your parents will help you all the way and be by your side. But, it is not life threatening".I apologise in advance if I have any of this wrong, I do not mean to offend but I think people make way more of BP than they should. Yes and I appreciate that I have BP, but it still not easy for me knowing I have passed this on but you know I wouldnt have any of my sons any other way. I reckon you and your husband should talk about your own childhoods and reflect them to yourselves as parents, now. What could you do better, what can you do for your child. How will you intend on bringing them up. Will you hide away or will you be the outgoing part of society who everyone knows with that child who brings a

smile to everyones face.It sounds like you are in a perfect situation to educate, promote and give knowledge to people about BP. If it was me, I would be doing all I can for me, my son and all the others who have BP in helping them with research and knowledge. Take a look at all our beautiful children.HAPPY NEW YEAR TO ALL AND THE MORE OF US THE MERRIER! , Glasgow, age 33, 3 boys

[Guest guest]

Interesting… My husband and I have a

daughter with Bleph and she is the first in our family. We are currently

pregnant with our second child. It took us over a year of trying to have

another child. Both of us would not mind and be overly-happy if the only issue

medically for our soon to be is Bleph. Our daughter is fabulous and would love

to have another just like her Bleph or not!!!!

Nicki

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of D Cameron

Sent: Friday, January 02, 2009

8:27 AM

blepharophimosis

Subject: RE: Re:blepharophimosis

testing

Astrid and Anja

Anja, I do not reply often on this site either but I have got to agree with

you 100% concerning this thread.

Astrid, I personally felt rather offended by some of the comments previously

made. I understand these are not meant to offend and that everyone has

their own choices, decisions and opinions.

But, I was slightlv horrified at the tone of the email about " picking

babies " . I feel this is such a sensitive subject these days that

you should keep this to yourself. Some people dont have this

" lucky " choice in life. Personally it sounds like you are

abusing your positions as doctors or being in the know and helping yourselves

as opposed to anyone else with BP or infertility problems not related to BP.

I have 3 friends undergone IVF ( for various reasons), none of them have BP,

they have all been successful and glad to have or be having a child.

They do not know what will happen. They do not know what will be passed

on to their child, Thats part of life! Do you know all your family

genes or are you going to screen every egg to have that perfect child.

I hope he/she meets your expectations ie, the nose isnt a little on the large

side! Infertility is a sad fact of life and for some people there are

unfortunately no reasons. You would have an explanation.

I appreciate parents who have children to save another childs life for

whatever reason. These are completely different and I will not discuss

this side of selection. BP is not necessarily itself life threatening.

( I note your points on your husbands surgery and I have had surgeries too

along with the rest of my family. As any doctor will tell you there is

a risk with any operation.) And there are many worse things to pass on

that should be looked to be " not transmitted to future gens " ie,

life threatening diseases, illnesses, cancers, meningitits, aids

etc.. You make us sound like we should be wiped off

the planet indefinetly. Surely your husband as a doctor doesnt think

this too?

Can i also ask, was your husband not human before he became a doctor?

Did he not feel human because he had BP, that is how that sentence came

across?

I have a son with BP, I have BP myself and I personally think with help

from ourselves assisting with tests etc then the doctors can get more medical

advice and hopefully learn more. Oh and also massive thanks for this

support group. This is invaluable. Doctors have contacted us

through this sight for research. Its great. Why dont you go along

these lines instead of wiping it out. Try and resolve the

infertility? Help people, if you have had all this research, following

and professional help - way more than anyone else then why not share it with

us.

I understand that you do not want to pass on infertility. But I also

want to show what choices you have in life. I did not know I had BP

until my neice was born and the thought of never being able to have children

or passing my BP on, was never a thought to me. I didnt stop and even

discuss with my partner BP and what if our child had my eyes becase it was

not an issue and yes I got taunted at school just like everyone else. I

didnt even know I could have been infertile until I found this website.

" I think it would be very hard if we had a child with

BPES... If it was only about the shapes of the eyes, taking

such a decision would be more " esthetic........ "

Do you feel the same about anyone with anything that is not " normal

" to you. What about clef lip and pallet? Should that be

eradicated too?

........ " And you parents know how children can be naughty with other

children who are " different " ..

All I can say to this is it doesnt matter if you have umbro trainers instead

of nike, your mum is fat down at the school, you are ginger haired, have ADHD,

are a long haired boy, you are beautiful and nice or whatever... Children

will always say something and children are more open minded these days than

they used to be. Parents have a lot to answer for themselves.

Children only are what they are and how they are brought up. You bring

your child up open minded, to make their own opinions, confident then that

can be half the battle, not to be pass remarkable but can stick up for

themselves. I remember watching the programme about the grown up

in Scotland who said he would would move his child to America to live if he

was born ginger haired rather than put him through the torment of abuse he

got as a child. What are we going to do, wipe out gingers too to avoid

taunts!!!! Thats me had it then as I have BP and I am ginger.

What if you screen your child, have the one without BP and then he/she

gets something worse. How would you feel? You spent years trying

to get the perfect child. What if down the line, your genes carry

something else you didnt know about, explain that to him/her.....

" Sorry love, we tried to make you perfect but we didnt know about those

genes............ " what is he/she doesnt want kids

anyway, cant have them for another reason or meets a partner who cant have

them. All that for nothing! You dont know, you are setting your childs life

out how you want it. Or you can turn around and say " Yes you are

ours, yes you have BP, yes you are beautiful, we love you and we wanted you

and wouldnt have you any other way. You are part of me and your Dad and

your Dad has BP and now you have it. We as your parents will help you

all the way and be by your side. But, it is not life threatening " .

I apologise in advance if I have any of this wrong, I do not mean to

offend but I think people make way more of BP than they should. Yes and

I appreciate that I have BP, but it still not easy for me knowing I have

passed this on but you know I wouldnt have any of my sons any other

way.

I reckon you and your husband should talk about your own childhoods and

reflect them to yourselves as parents, now. What could you do better,

what can you do for your child. How will you intend on bringing them

up. Will you hide away or will you be the outgoing part of society who

everyone knows with that child who brings a smile to everyones face.

It sounds like you are in a perfect situation to educate, promote and give

knowledge to people about BP. If it was me, I would be doing all I can

for me, my son and all the others who have BP in helping them with research

and knowledge.

Take a look at all our beautiful children.

HAPPY NEW YEAR TO ALL AND THE MORE OF US THE MERRIER!

, Glasgow,

age 33, 3 boys

[Guest guest]

Sorry Bobby, you flunked the test. Another year in 4th grade for you.

Bob , Granger, Indiana

>

> this is another of many tests, bobby

>

> --

> a Doyle/dob 1929

> DX 1995/Hydrea

> 2/00 - Gleevec Trial, OHSU, Dr. Druker

> 6/02 - Gleevec/Arsenic Trial, OHSU,Dr. Druker

> 6/03 - Gleeved/Zarnestra Trial, OHSU, " " " "

> 7/06 - Sprycel Trial, MDACC, Dr. Talpaz

> 4/08 - XL228 Trial, U. of Michigan, Dr. Talpaz

> 4/09 - Ariad Trial, U.of Michigan, Dr. Talpaz

>

>

>

[Guest guest]

me again, ignore

a (Bobby) Doyle Brecksville, Ohio, USA DX 05/1995 02/2000 - Gleevec

Trial/OHSU 06/2002 - Gleevec/Trisenox Trial/OHSU 06/2003 - Gleevec/Zarnestra

Trial/OHSU 04/2004 - Sprycel Trial/MDACC, CCR in 10 months #840  -   Zavie's

Zero Club 09/2006 -  out of CCR 04/29/08 - XL228 Trial/ U.of Michigan

06/02/08 - CCR ( in 4 weeks)

02/13/09 - XL trial ended due to side effects

04/13/09 - New Trial, Ariad / U. of Mich./ Dr. Talpaz

 

From: ROBERTA DOYLE <rcd1929@...>

Subject: [ ] testing

" " < >

Date: Sunday, June 7, 2009, 12:00 PM

no I am trying to send using sbcglobal. just ignore all these little

messages, i am trying to figure out why sometimes I can send and receive and

other times I cannot.

a (Bobby) Doyle Brecksville, Ohio, USA DX 05/1995 02/2000 - Gleevec

Trial/OHSU 06/2002 - Gleevec/Trisenox Trial/OHSU 06/2003 - Gleevec/Zarnestra

Trial/OHSU 04/2004 - Sprycel Trial/MDACC, CCR in 10 months #840  -   Zavie's

Zero Club 09/2006 -  out of CCR 04/29/08 - XL228 Trial/ U.of Michigan

06/02/08 - CCR ( in 4 weeks)

02/13/09 - XL trial ended due to side effects

04/13/09 - New Trial, Ariad / U. of Mich./ Dr. Talpaz

 

[Guest guest]

Relocating to sunny and warm Florida?

Sent from my iPhone

On Jan 3, 2010, at 10:48 PM, " Zavie " <zmiller@...>

wrote:

>

>

> Zavie (age 71)

> 67 Shoreham Avenue

> Ottawa, Canada, K2G 3X3

> dxd AUG/99

> INF OCT/99 to FEB/00, CHF

> No meds FEB/00 to JAN/01

> Gleevec since MAR/27/01 (400 mg)

> CCR SEP/01. #102 in Zero Club

> 2.8 log reduction Sep/05

> 3.0 log reduction Jan/06

> 2.9 log reduction Feb/07

> 3.6 log reduction Apr/08

> 3.6 log reduction Sep/08

> 3.7 log reduction Jan/09

> 3.8 log reduction May/09

> e-mail: zmiller@...

> Tel: 613-726-1117

> Fax: 613-482-4801

> Cell: 613-282-0204

> ID: zaviem

> YM: zaviemiller

> Skype: Zavie

>

>

[Guest guest]

Testing to see if I can email directly from my google account without it being a reply.

 

Just ignore the man behind the screen.................

 

Peace, love, laughterOur website:http://sites.google.com/site/notonlyybarras/hometheoretical considerations of cause and effect often look pale and dusty in comparison to the practical results of chance.

C. Jung Enter the world of Rune Lore in  " The Mind of Guido " at:https://sites.google.com/site/themindofguido/ and vent your spleen at:

http://themindofguido.blogspot.com/