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Hi, I am curious about some past emails discussing the deletion of the FoxL2 Gene. I didn't know this was possible. A few years ago when we visited Dr. Collin in London he mentioned that they were in the process of doing so. Does anyone have insight on this and the effects it has on the girls with regard to being able to still have children?

Thank you,

Gwyneth's Mom, PamGet a sneak peek of the all-new AOL.com.

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Hi Pam

I am not sure what you are asking... Do you mean if a person is born

with the gene deleted, which from what I understand, does happen. Or

do you mean purposely " deleting " the affected gene?

From what I understand, those born with a deleted gene, can have more

developmental issues than the symptoms of BPES (narrow eyes openings,

ptosis, inverted epicanthal fold).

>

> Hi, I am curious about some past emails discussing the deletion of

the FoxL2

> Gene. I didn't know this was possible. A few years ago when we

visited Dr.

> Collin in London he mentioned that they were in the process of

doing so.

> Does anyone have insight on this and the effects it has on the

girls with

> regard to being able to still have children?

>

> Thank you,

> Gwyneth's Mom, Pam

>

>

>

> ************************************** Get a sneak peek of the all-

new AOL at

> http://discover.aol.com/memed/aolcom30tour

>

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Therese,

I hope to find out more too. I am just referring to an email I read from one of the other parents. It is so great to have this group. I cannot tell you how much comfort it has given me. Let us know how your meeting goes with Dr. Collin.

Best,

PamGet a sneak peek of the all-new AOL.com.

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Hi Pam

My name is Therese and I've just read your email and was struck by the

possibility of being able to delete the fox2l gene. I know so little

about it but will be seeing mr Collin in September so could find out

more about it. We have a little girl called Esme who is nearly 3yrs we

dont know what type of Bleph she has and at this point are just

praying that she will be able to have children in the future if she

wants to.

Best wishes

Therese

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Hi Pam,

I'm sorry! I can't remember if I replied already or not, I haven't had a chance to check my mail for ages, so apologies if this is a duplicate email.

I started a thread a while back about Gene Deletion. My 14month old daughter got her genetic test results back a few months ago, and the geneticist told us that the results said that she had total deletion of the FOXL2 Gene. He said that this confirmed she has BPES and that she will most certainly have fertility issues. He said that POF (premature ovarian failure) was not the 'Given' prognosis in all cases - as it depends, case by case. In my daughters case - where the gene is totally deleted, he said that it was likely she would not even produce eggs! In partial gene deletion, POF is more common. We were very upset by this news, as you can imagine... But we are trying to research it more and find out what options exist. I personally believe that every case is different, like us all!

Kind regards,

blepharophimosis Gene Deletion

Hi, I am curious about some past emails discussing the deletion of the FoxL2 Gene. I didn't know this was possible. A few years ago when we visited Dr. Collin in London he mentioned that they were in the process of doing so. Does anyone have insight on this and the effects it has on the girls with regard to being able to still have children?

Thank you,

Gwyneth's Mom, Pam

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