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Re: Microdeletions?

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Dear Kim,

When was nearly 2 months there was an argument between the eye

specialist and the plastical surgeon. The eyespecialist stated that 's

eyelids had to be lifted in order to assure a better sight and thus a better

development. The plastical surgeon decided she was far to young for

plastical surgery. Once again the eye specialist discussed the matter with

him and stated the eyelid operation had nothing to do with looks/beauty or

whatever but everything with the development of the eye. was having her

first operation when she was 2 months and I think it was the right thing to

do. We are having checks (controls) every 6 months and she develops very

well. The function of her eyes is like it should be with a 2 year old. Her

growing up is good she does not have to lift her head so much in order to

see things (like mckenzy does at picture nr. 3.

Based on this experience I tend to agree with McKenzies therapists. Maybee a

more direct discussion with the doctors is necessary? Sorry for the mistakes

in English.

Dolph Heideman

The Netherlands

blepharophimosis Microdeletions?

>

> Hi again Leah,

> I am very interested in what you know about microdeletions. McKenzie has

> significant delys but the doctors say it has nothing to do with the

> mutated FOXL2 gene. The geneticist explained how the mutation is

> caused my a missing element in the gene but that it only effects how

> the eye area develops. Her therapists believe that many of

> McKenzies's delays (mobility, speech, social etc..) are caused by

> her limited/impaired ability to see and that after surgery she will

> improve. I am hoping that they are right. The doctors seem less

> concerned in her than the special education teachers and the

> physical therapists, they are sometimes more insightful and helpful.

>

> Sincerely

> Holmes

> Albany NY, USA

>

>

>> >

>> > My name is joyce, I live in London near . Both my daughter

>> have

>> > BPES, they were both full term babies, Their cousin who is now 15

>> years old also

>> > a girl with BPES was born at 26 weeks and she is hale and hearty

>> with no

>> > developmental issues.

>> >

>> >

>> > The infertility issue is still been investigated, It will be best to

>> check

>> > with a geneticist.

>> >

>> > Joyce Tina and Mayowa

>> >

>>

>

>

>

>

>

>

>

>

>

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We also had an arguement between the oculorplastic surgeon and the pediatric opthamologist. Sophia has severe ptosis and was tilting her head way back. She was hitting her milestones but the opthamologist was worried about the pupil not getting enough light to develop properly. While the surgeon was worried about her getting too much scar tissue and how this would effect future surgeries. Well, we did the surgery at 11 months and she looks great and can see so much better. We deliberated and deliberated, in the end she seems so much more active and alert. I am very happy with the outcome. We do have to go back to surgery on Monday for some revision. The funny thing is for the revision now the surgeon wants to do it and the opthamologist is O.K. I guess its good to have differences, keeps everyone on their feet:)

Tawnya

Boulder, CO

--------- blepharophimosis Microdeletions?>> Hi again Leah,> I am very interested in what you know about microdeletions. McKenzie has> significant delys but the doctors say it has nothing to do with the> mutated FOXL2 gene. The geneticist explained how the mutation is> caused my a missing element in the gene but that it only effects how> the eye area develops. Her therapists believe that many of> McKenzies's delays (mobility, speech, social etc..) are caused by> her limited/impair

ed ability to see and that after surgery she will> improve. I am hoping that they are right. The doctors seem less> concerned in her than the special education teachers and the> physical therapists, they are sometimes more insightful and helpful.>> Sincerely> Holmes> Albany NY, USA>> >> >>> > My name is joyce, I live in London near . Both my daughter>> have>> > BPES, they were both full term babies, Their cousin who is now 15>> years old also>> > a girl with BPES was born at 26 weeks and she is hale and hearty>> with no

BR>>> > developmental issues.>> >>> >>> > The infertility issue is still been investigated, It will be best to>> check>> > with a geneticist.>> >>> > Joyce Tina and Mayowa>> >>>>>>>>>>>>

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