Re: Blepharophimosis and ptosis

May 17, 2006

Hi My name is Lucy and my husband Garry and I have a 15 month old daughter called Holly. We were in exactly the same position as your sister-in-law and brother when Holly was first born. I kept saying 'she won't open her eyes' and it was a big mystery because no-one knew why, even the local doctors. Holly wasn't diagnosed until she was at least 4 months old so you were lucky to have a quick diagnosis. Holly is the first in the family which is why it was such a big shock. It is a rare genetic disorder which is just a spontaneous mutation and is of no fault to anyone, just one of those things. In plain english the BPES means that they have smaller eye openings (Blepharophimosis), no muscle in the eyelids (Ptosis) and excess skin up the inside corners of the eyes (Epicanthus Inversus) Syndrome. It took us a long while to get our heads around but this website and e-mail

has helped us a lot. There are pictures of Holly on the website which you can look at. We are off to Moorfields Eye Hospital in London on Monday for Hollys first surgery to have a temporary lift on the eyelids. If you would like to ask me anymore questions please fire away, I know exactly how you are all feeling but please believe me that it does get easier. We wouldn't change Holly for the world, her personality and great smile lights up her face. Take care Lucy (Hampshire, UK)suecox1420 <suecox1420@...> wrote: My nephew, who is 5 weeks old was just diagnosed withblepharophimosis, ptosis and nanophthalmos. My sister in law andbrother were both concerened as well as the pediatrician because hedidnt

seem to be opening his eyes enough so they went to a specialistand thats what they were told. The dr. does want to see him back intwo months to re-evaluate him but in the meantime both parents are awreck over this and are really trying to find out what this actuallymeans. Can anybody help me. They asked me to look stuff up on theinternet about it but there's so much to read and I thought it mightbe better to hear some feedback from someone who has actually gonethrough this. Anything will help. Thanks.Send instant messages to your online friends http://uk.messenger.

May 17, 2006

Hi

First of all, your nephew is going to be okay. Welcome to this group.

My daughter, Kirsten is 3 years old and has blepharophimosis (BPES).

Your nephew will have his vision monitored and may at some point have

his lids surgically " lifted " to ensure that his vision develops

normally. His parents will be involved in the decision process

regarding his management and each child is treated individually

according to their needs. You will see that all our kids don't

necessarily have surgery at the same age, but generally it is

completed before school-going age. The cosmetic results are excellent.

Kirsten's before and after photos are under " Kirsten Parsons " . She is

scheduled for a second procedure in June and has normal vision.

Good luck.

Kind regards

Parsons

--- In blepharophimosis , " suecox1420 " <suecox1420@...>

wrote:

>

> My nephew, who is 5 weeks old was just diagnosed with

> blepharophimosis, ptosis and nanophthalmos. My sister in law and

> brother were both concerened as well as the pediatrician because he

> didnt seem to be opening his eyes enough so they went to a specialist

> and thats what they were told. The dr. does want to see him back in

> two months to re-evaluate him but in the meantime both parents are a

> wreck over this and are really trying to find out what this actually

> means. Can anybody help me. They asked me to look stuff up on the

> internet about it but there's so much to read and I thought it might

> be better to hear some feedback from someone who has actually gone

> through this. Anything will help. Thanks.

>

May 17, 2006

Hi Lucy

Good luck for Monday and for a speedy and uneventful recovery. Holly

will be in my prayers. Let us know how she is.

Regards

P

> My nephew, who is 5 weeks old was just diagnosed with

> blepharophimosis, ptosis and nanophthalmos. My sister in law and

> brother were both concerened as well as the pediatrician because he

> didnt seem to be opening his eyes enough so they went to a

specialist

> and thats what they were told. The dr. does want to see him back

in

> two months to re-evaluate him but in the meantime both parents are

a

> wreck over this and are really trying to find out what this

actually

> means. Can anybody help me. They asked me to look stuff up on the

> internet about it but there's so much to read and I thought it

might

> be better to hear some feedback from someone who has actually gone

> through this. Anything will help. Thanks.

>

May 17, 2006

Hi Thanks for the message, it means a lot. We are just praying that Holly does not catch a cough or cold between now and then otherwise they may not operate!! It is so hard not to wrap her up in cotton wool but I am sure everything will be fine. Garry and I are nervous wrecks but Holly is absolutely fine! Will let you know how it goes Lucy xx <parsonsfamily108@...> wrote: Hi LucyGood luck for Monday and for a speedy and uneventful recovery. Holly will be in my prayers. Let us know how she is.Regards P> My nephew, who is 5 weeks old was just diagnosed with> blepharophimosis, ptosis and nanophthalmos. My sister in law and> brother were both concerened as well as the pediatrician because he> didnt

seem to be opening his eyes enough so they went to a specialist> and thats what they were told. The dr. does want to see him back in> two months to re-evaluate him but in the meantime both parents are a> wreck over this and are really trying to find out what this actually> means. Can anybody help me. They asked me to look stuff up on the> internet about it but there's so much to read and I thought it might> be better to hear some feedback from someone who has actually gone> through this. Anything will help. Thanks.> > > > > >

May 17, 2006

Kari - I don't have info regarding it being only on

one side of the face, but I do know my son seemed to

have very low muscle tone in his face. I asked our

pediatric opthalmologist if that is consistent with

BPES patients and he said he didn't know.

April Eisele, Colorado, USA

Wife to Jon

Mommy to Mira, Micah & Misha

--- Kari Metzger <karimetzger@...> wrote:

> My son has only one eye with ptosis (3 months old) –

> he is waiting for

> surgery until he is 3 or 4, as patching has been

> successful in getting him

> to lift his chin to see out of that eye for now..

> What is interesting is

> that he also has a slightly tied tongue (so when he

> sticks it out, it looks

> like a heart), and what looks like one side of his

> face is slightly weaker

> than the other (you can only tell by looking

> closely, but when he sticks his

> tongue out, it usually goes to the weaker side, and

> it is the same side as

> the ptosis).

>

> He is otherwise perfectly normal, healthy,

> developing exactly as his older

> brother did (who has no ptosis). So – anyone heard

> of those as symptoms?

> One side only and all? Also, that it seems to be

> related to one side of his

> face being slightly weaker?

>

> Kari in Canada

>

> _____

>

> From: blepharophimosis

> [mailto:blepharophimosis ] On Behalf

> Of Lucy Chidgey

> Sent: May 17, 2006 1:20 PM

> blepharophimosis

> Subject: Re: blepharophimosis Blepharophimosis and

> ptosis

>

> Hi

>

> My name is Lucy and my husband Garry and I have a 15

> month old daughter

> called Holly. We were in exactly the same position

> as your sister-in-law

> and brother when Holly was first born. I kept

> saying 'she won't open her

> eyes' and it was a big mystery because no-one knew

> why, even the local

> doctors. Holly wasn't diagnosed until she was at

> least 4 months old so you

> were lucky to have a quick diagnosis.

>

> Holly is the first in the family which is why it was

> such a big shock. It

> is a rare genetic disorder which is just a

> spontaneous mutation and is of no

> fault to anyone, just one of those things. In plain

> english the BPES means

> that they have smaller eye openings

> (Blepharophimosis), no muscle in the

> eyelids (Ptosis) and excess skin up the inside

> corners of the eyes

> (Epicanthus Inversus) Syndrome. It took us a long

> while to get our heads

> around but this website and e-mail has helped

> us a lot.

>

> There are pictures of Holly on the website which you

> can look at. We are

> off to Moorfields Eye Hospital in London on Monday

> for Hollys first surgery

> to have a temporary lift on the eyelids.

>

> If you would like to ask me anymore questions please

> fire away, I know

> exactly how you are all feeling but please believe

> me that it does get

> easier. We wouldn't change Holly for the world, her

> personality and great

> smile lights up her face.

>

> Take care

>

> Lucy (Hampshire, UK)

>

> suecox1420 <suecox1420@...> wrote:

>

> My nephew, who is 5 weeks old was just diagnosed

> with

> blepharophimosis, ptosis and nanophthalmos. My

> sister in law and

> brother were both concerened as well as the

> pediatrician because he

> didnt seem to be opening his eyes enough so they

> went to a specialist

> and thats what they were told. The dr. does want to

> see him back in

> two months to re-evaluate him but in the meantime

> both parents are a

> wreck over this and are really trying to find out

> what this actually

> means. Can anybody help me. They asked me to look

> stuff up on the

> internet about it but there's so much to read and I

> thought it might

> be better to hear some feedback from someone who has

> actually gone

> through this. Anything will help. Thanks.

>

> Send instant messages to your online friends

> http://uk.messenger.

>

May 18, 2006

I am in no way a medical expert, but the one-sidedness sounds more like facial nerve damage. Any birth trauma, like forceps?

--Annette in Tallahasseee Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack (Guatemala adoption), O. (foster) and J. (foster).

-------------- Original message -------------- From: Kari Metzger <karimetzger@...>

My son has only one eye with ptosis (3 months old) – he is waiting for surgery until he is 3 or 4, as patching has been successful in getting him to lift his chin to see out of that eye for now.. What is interesting is that he also has a slightly tied tongue (so when he sticks it out, it looks like a heart), and what looks like one side of his face is slightly weaker than the other (you can only tell by looking closely, but when he sticks his tongue out, it usually goes to the weaker side, and it is the same side as the ptosis).

He is otherwise perfectly normal, healthy, developing exactly as his older brother did (who has no ptosis). So – anyone heard of those as symptoms? One side only and all? Also, that it seems to be related to one side of his face being slightly weaker?

Kari in Canada

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of Lucy ChidgeySent: May 17, 2006 1:20 PMblepharophimosis Subject: Re: blepharophimosis Blepharophimosis and ptosis

Hi

My name is Lucy and my husband Garry and I have a 15 month old daughter called Holly. We were in exactly the same position as your sister-in-law and brother when Holly was first born. I kept saying 'she won't open her eyes' and it was a big mystery because no-one knew why, even the local doctors. Holly wasn't diagnosed until she was at least 4 months old so you were lucky to have a quick diagnosis.

Holly is the first in the family which is why it was such a big shock. It is a rare genetic disorder which is just a spontaneous mutation and is of no fault to anyone, just one of those things. In plain english the BPES means that they have smaller eye openings (Blepharophimosis), no muscle in the eyelids (Ptosis) and excess skin up the inside corners of the eyes (Epicanthus Inversus) Syndrome. It took us a long while to get our heads around but this website and e-mail has helped us a lot.

There are pictures of Holly on the website which you can look at. We are off to Moorfields Eye Hospital in London on Monday for Hollys first surgery to have a temporary lift on the eyelids.

If you would like to ask me anymore questions please fire away, I know exactly how you are all feeling but please believe me that it does get easier. We wouldn't change Holly for the world, her personality and great smile lights up her face.

Take care

Lucy (Hampshire, UK)suecox1420 <suecox1420@...> wrote:

My nephew, who is 5 weeks old was just diagnosed withblepharophimosis, ptosis and nanophthalmos. My sister in law andbrother were both concerened as well as the pediatrician because hedidnt seem to be opening his eyes enough so they went to a specialistand thats what they were told. The dr. does want to see him back intwo months to re-evaluate him but in the meantime both parents are awreck over this and are really trying to find out what this actuallymeans. Can anybody help me. They asked me to look stuff up on theinternet about it but there's so much to read and I thought it mightbe better to hear some feedback from someone who has actually gonethrough this. Anything will help. Thanks.

Send instant messages to your online friends http://uk.messenger.

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May 18, 2006

Nope – very fast birth, two pushes

and he was out.. no forceps or any other birth trauma. it does seem like a

nerve thing to me as well – no diagnosis one way or another – hard to

get answers actually!

From:

blepharophimosis [mailto:blepharophimosis ] On Behalf Of agarrett00@...

Sent: May 17, 2006 5:31 PM

To:

blepharophimosis

Subject: Re: blepharophimosis

Blepharophimosis and ptosis

I am in no way a medical expert, but the one-sidedness sounds more like

facial nerve damage. Any birth trauma, like forceps?

--

Annette in Tallahasseee

Mom to Rourke, Kendrah & Sam (bio), Bladen (foster adoption), Jack (Guatemala adoption), O. (foster) and J. (foster).

--------- Re: blepharophimosis

Blepharophimosis and ptosis

Hi

My name is Lucy and my husband Garry and I have a 15 month old daughter

called Holly. We were in exactly the same position as your sister-in-law

and brother when Holly was first born. I kept saying 'she won't open her

eyes' and it was a big mystery because no-one knew why, even the local doctors.

Holly wasn't diagnosed until she was at least 4 months old so you were lucky to

have a quick diagnosis.

Holly is the first in the family which is why it was such a big

shock. It is a rare genetic disorder which is just a spontaneous mutation

and is of no fault to anyone, just one of those things. In plain english

the BPES means that they have smaller eye openings (Blepharophimosis), no

muscle in the eyelids (Ptosis) and excess skin up the inside corners of the

eyes (Epicanthus Inversus) Syndrome. It took us a long while to get our

heads around but this website and e-mail has helped us a lot.

There are pictures of Holly on the website which you can look at.

We are off to Moorfields Eye Hospital in London on Monday for Hollys first

surgery to have a temporary lift on the eyelids.

If you would like to ask me anymore questions please fire away, I know

exactly how you are all feeling but please believe me that it does get

easier. We wouldn't change Holly for the world, her personality and great

smile lights up her face.

Take care

Lucy (Hampshire, UK)

suecox1420

<suecox1420@...> wrote:

My nephew, who is 5 weeks

old was just diagnosed with

blepharophimosis, ptosis and nanophthalmos. My sister in law and

brother were both concerened as well as the pediatrician because he

didnt seem to be opening his eyes enough so they went to a specialist

and thats what they were told. The dr. does want to see him back in

two months to re-evaluate him but in the meantime both parents are a

wreck over this and are really trying to find out what this actually

means. Can anybody help me. They asked me to look stuff up on the

internet about it but there's so much to read and I thought it might

be better to hear some feedback from someone who has actually gone

through this. Anything will help. Thanks.

Send instant messages to your online friends

http://uk.messenger.

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Version: 7.1.392 / Virus Database: 268.6.0/341 - Release Date: 16/05/2006

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Checked by AVG Free Edition.

Version: 7.1.392 / Virus Database: 268.6.0/341 - Release Date: 16/05/2006

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Checked by AVG Free Edition.

Version: 7.1.392 / Virus Database: 268.6.0/341 - Release Date: 16/05/2006

May 18, 2006

Hi:

Welcome to this group. It has been a great resouce of information for

us. My name is Amy and my husband, , and I have a 14month old

daughter, . I could have almost written Lucy's post word for

word about . Our experience was much the same. was

diagnosed when she was only a few weeks old, but the syndrome wasn't

fully explained to me until we went back later, after I had done a lot

of research on the internet. We eventually switched drs and had

her lids lifted in January. She is doing wonderful. It is very scary

at first but once I learned a little about it (much from this site) my

mind was put to ease. If you have any more questions, feel free to

ask!

Amy