Re: Naomi's BPES

[Guest guest]

Just to add that Naomi's photos are now ready for viewing.

Finally completed uploading the first batch.

Ern C.

[Guest guest]

Hi Ern,

Does genetic testing now indicate which type of BPES a child has? We have a

daughter with BPES who is 6, and when we had our genetic testing done when

she was a baby and then again for a study at UCLA when she was 4, there was

no genetic marker for type...just had to wait and see how the reproductive

system developed. If there have been any new developments, we haven't heard

about them.

Thanks...cool to have a doctor in the group! I did not know that the

muscles that control blinking are not the levator muscle. did not

blink when she was born, however. That was one of the things that

fascinated me...(plus convinced me that there was more going on than

swelling from birth)...she didn't blink. I remember asking my pediatrician,

" Do babies blink? Because doesn't. " And she said, " I honestly don't

know! " Anyway, she now blinks just fine. My daughter, too, has no levator

function, though she was able to see okay by lifting her chin and also has

less tissue around the eyelids so more pupil is exposed. I'll never forget

after her ptosis surgery, though, when she walked into the room, and it was

eye contact for the first time! Sweet!

Have a Merry Christmas! -- Dawn

[Guest guest]

Hi Dawn:

As far is I know, differentiation between type 1 (with premature

ovarian failure - POF) and

type 2 (without) is made clinically. Thus, currently, genotyping

(gene testing) now may

only be able to confirm the BPES diagnosis and differentiate it from

other ptosis-related

eye disorders. Genotyping is not yet able (to my limited knowledge)

to distinguish type 1

from type 2.

From a quick review of the medical literature, the ongoing research

work is to identify the

various gene mutations that manifest as BPES. Unfortunately for us

and our kids, the

current treatment for most with BPES is still surgery to preserve

vision. I believe we are still

far from gene therapy as treatment, if at all.

Incidentally, the only reason why I know what I do about BPES is

solely due to Naomi's

condition. I learnt about it as a parent, not a doctor. I did not

know of such a congenital

condition until Naomi's diagnosis. Among my doctor friends, only the

paediatricians,

plastic surgeons and ophthalmologists know about it in varying

degrees.

Ern

--- In blepharophimosis , Dawn Harry <dharry11@f...>

wrote:

> Hi Ern,

>

> Does genetic testing now indicate which type of BPES a child has?

We have a

> daughter with BPES who is 6, and when we had our genetic testing

done when

> she was a baby and then again for a study at UCLA when she was 4,

there was

> no genetic marker for type...just had to wait and see how the

reproductive

> system developed. If there have been any new developments, we

haven't heard

> about them.

>

> Thanks...cool to have a doctor in the group! I did not know that

the

> muscles that control blinking are not the levator muscle.

did not

> blink when she was born, however. That was one of the things that

> fascinated me...(plus convinced me that there was more going on than

> swelling from birth)...she didn't blink. I remember asking my

pediatrician,

> " Do babies blink? Because doesn't. " And she said, " I

honestly don't

> know! " Anyway, she now blinks just fine. My daughter, too, has no

levator

> function, though she was able to see okay by lifting her chin and

also has

> less tissue around the eyelids so more pupil is exposed. I'll

never forget

> after her ptosis surgery, though, when she walked into the room,

and it was

> eye contact for the first time! Sweet!

>

> Have a Merry Christmas! -- Dawn