Re: New here...hello to all

[Guest guest]

First off, Hi and welcome to the group! My name is Ann. My duaghter is the first

in our family with BPES. I'm still new here myself, only found it about a month

and a half, maybe 2 months ago. The group is awesome. It's nice to finally meet

people who understand what you are going though.

I understand your frustrations. My Catalina will be 23 months old on Friday. She

was misdiagnosed at first. Luckily for us, we got the correct diagnosis rather

quickly. I'm in Colorado, and the FOXL2 test is available here, the genteics

Dr.s are actually the ones who told me about this group. Our case is

spontaneous. It's never happened before in either my husband's or my family. I

will say this, a mother knows when something isn't right, and if you do not

agree with what your doctors tell you, find a new one. You mentioned you had a

2nd opinion that mirrored your 1st, without the doc having any info. Find a 3rd

or a 4th if that's what it takes doll.

Most docs don't know about BPES. It's just not that common. I hate to say it,

but the more common a disease, genetic malfuntion, virus, disability, etc is,

the more research is done on it. It sucks, but that is life. BPES doesn't affect

as many people so there's fewer people pushing for more studies. But there are

people who care about it. Please don't think that there aren't.

As far as recessive or not, I don't know. I never was good at science. I can't

tell you anything about that, other than keep seeking out new information. I

don't understand the genetics of who passes it on and how it's passed down. To

be honest, I get headaches trying to figure it out. You said your son has a very

mild case, and your husband's daughter had the same traits when she was younger,

but as she grew, her eyes changed. You said you can still see that there is

something different about her, and she has the symptoms of BPES type 1? Maybe I

misunderstood that. Is there a possibility that maybe she was misdiagnosed?

Catalina's case required immediate surgery which she had at about 8 weeks old.

I've read posts from other people on here who have not had to have surgery at

all, and posts from people who have had to have alot more surgeries than what

Catalina is scheduled for. It's really a case by case situation. What's good for

1 BPES person, isn't necessarily good for any other. Only a doctor can tell you.

I can recommend a few doctors here in Colorado, but I know that doesn't help you

in Tennessee.

You didn't mention if your son has had any surgeries yet. Has he?

You said something about translocated chromasomes. Again, I'm lost on that, not

sure what that means. If it truly is spontaneous, like Catalina's is, you will

never know.

And while that sucks, in the end, it doesn't matter. What matters is letting

your son know that he's loved. That no matter what he looks like, he is

beautiful. And he is not alone. There's 800+ people in this group that are

living with BPES in one way or another (have it or have children/spouses with

it).

In the beginning I thought about it alot. Now, I don't think about it unless

someone asks or rudely says " OMG Look at that lil girl's eyes! " And of course I

get the usual " Awww she's so sleepy! " comment all the time. I just smile and say

" No she's not... " If they inquire further, I explain it, and if they don't

inquire, I go about my day. I try not to treat her any different than her big

sister. She really isn't any different than her big sister, she just has to go

see the doctor more often.

Honestly, when it comes time for her to try and understand her BPES, I'll cross

that bridge when I get there.

If you are interested, I can give you the names of the docs we see here, and I

don't know, maybe they can recommend someone better in your area.

Ok, enough of my rambling, Welcome to the group!

p.s. Catalina's pics are posted, in case you are curious. Would love to see pics

of your son and even of your whole family (7 kids, WOW!)

Always,

Ann

Denver, Colorado

--- In blepharophimosis , " ohidontreallyno " <ohidontno@...>

wrote:

>

> Hi, everyone. I'm new here but not new to the subject at hand. I have a son

whose 17mos old with BPES. I know nothing about the " condition " and everything I

do know I learned on the web. The " specialists " know nothing either, not here

where I am anyway. My son goes to Vanderbilt Childrens Hospital in Nashville,TN.

I had to tell the genetics Dr. about the FOXL2 gene test. He argued with me that

there was no such test. I let him know that there was very much a test

available, just not here in the U.S. yet(which I learned on the web). I took my

son to have a second opinion since it seemed to me that the Dr.'s that I had

been dealing with didn't have a clue as to what they were dealing with. And all

I got was... " Well, what did the other Dr. say? " . I got no answers. The second

Dr. just backed up what the 1st Dr. said without even knowing what the 1st Dr.

had said! I don't really think they know everything about BPES. And I don't

think they really care. " It's a cosmetic issue " , as I've been told over and

over. Nobody cares about this condition to learn about it so they just throw it

to the wayside. What they have learned so far is written in stone, theres no if

ands or buts about it! They say it's not a recessive gene...how the heck do they

know??? I don't think they know...they just dont have the knowledge yet to back

it up either way so they say its not. We are very complex. Theres more than a

million different things that could go wrong during the making of a child. If

people were informed before they had a kid I think we'de kill ourselves off

because it's just so darn easy for nature to screw up. I had three " normal "

children from a previous marriage. My husband had three " normal " children from a

previous marriage. And then we had our son with BPES. I have learned that there

are REAL mild cases of it. My son has a pretty mild case. When he was littler we

searched all the kids baby pictures. My son looked JUST like my husbands 3rd

child. Her eyes were EXACTLY like my sons except he had ptosis and the extra

fold of skin on the inside of his eyes. She grew out of that " look " but she has

a condition (forget the name) but its just what BPES type1, I think, has. The

Dr.'s say its unrelated, that you can't outgrow it. I just don't know. I looked

at her baby picture all the time before we had my son(5 years). And I always

thought she looked " different " . I couldn't explain it. But her baby picture

didn't look like her brothers, her sisters, my 3 kids, or any baby picture I had

ever seen. Again, she doesnt look like that now but she looked just like my son

does now...I just know that he'll never outgrow it. I do feel he'll look pretty

good once all the surgeies are done tho. He has a real mild case and he looks

WAY different than he did when he was younger. Like his forehead...it used to be

flat, couldn't tell he had one. Now his forehead sticks out past the bridge of

his nose. It looks way more " normal " . I think once they fix the skin on the

inside of his eyes, it's gonna be real hard to tell(once the scars fade). I just

want to find a Dr. that knows at least half-way what they're doing. I'm sory for

it being so long a post. And I don't mean to sound any certain way. I just wish

someone would admit that they don't know everything about it because it's

obvious that they don't. Oh yeah, I got side tracked. Something else I wanted to

add was that I passed down translocated chromosomes to our son. They tested that

and found that every thing relocated just fine. There were no missing fragments

or fragment pieces. Here's my opinion....I don't think they know. I think that

since my step-daughter looked the way she did and has the reproductive issue and

my son is the way he is. I think its related somehow. Especially since his is so

mild a case. I think it had something to do with the translocation of his

chromosomes on my side mixed with I don't know what from his daddy. Cause he's

already grown out of alot of his " look " , if that makes any sense. It just doesnt

make since to me that this was a spontanious thing, since neither me or my

husband " passed " it down. Not with the way his daughter looked and now we find

that she has that other issue. But you cant look at her now and see that theres

anything wrong with her other than she still has a broad nasal bridge but her

eyes are big and all that. It's just not flat anymore. I don't know. Don't even

know what I'm really trying to say except that I know they don't know everything

about this.

>

[Guest guest]

Hello and welcome to this wonderful site.

wow, you poor thing, you must be really frustrated.

You are absolutely right not all doctors not everything about all of the conditions out there. It is a very rare condition (shireen could prob give stats). However there are some doctors who now lots and are very confident in what they do.

It sounds to me like you are someone who will keep asking the right questions until you find the answers that make sense to you, and that is good. My mum was told I was blind and sent home, but she kept asking and asking until she eventually found someone inn London who helped us. It might be worth asking on this site if anyone else has used a doc, specialist in your area to contact and at least get some answers for you.

The things that I know, from having BPES and my daughter, and having genetic councelling at Great Ormand Street Hopsital in London, that if someone has BPES they can pass it on, if they do not (have any signs) of BPES they cannot pass it on, the only way that your son and your husbands daughter could be connected with having BPES is if your husband has it. (he would show obvious signs).

Keep reading the posts and looking at pics, and ask questions, they is a heap of information on this site, some from doctors, some from people who have experience, but the thing that was important to me was to find a doctor, specialist who I trusted. Keep looking and asking.

With Love

Clare Teale Herts UK

From: ohidontreallyno <ohidontno@...>Subject: blepharophimosis New here...hello to allblepharophimosis Date: Wednesday, 1 July, 2009, 9:32 PM

Hi, everyone. I'm new here but not new to the subject at hand. I have a son whose 17mos old with BPES. I know nothing about the "condition" and everything I do know I learned on the web. The "specialists" know nothing either, not here where I am anyway. My son goes to Vanderbilt Childrens Hospital in Nashville,TN. I had to tell the genetics Dr. about the FOXL2 gene test. He argued with me that there was no such test. I let him know that there was very much a test available, just not here in the U.S. yet(which I learned on the web). I took my son to have a second opinion since it seemed to me that the Dr.'s that I had been dealing with didn't have a clue as to what they were dealing with. And all I got was..."Well, what did the other Dr. say?". I got no answers. The second Dr. just backed up what the 1st Dr. said without even knowing what the 1st Dr. had said! I don't really think they know everything about BPES. And I don't think they really care.

"It's a cosmetic issue", as I've been told over and over. Nobody cares about this condition to learn about it so they just throw it to the wayside. What they have learned so far is written in stone, theres no if ands or buts about it! They say it's not a recessive gene...how the heck do they know??? I don't think they know...they just dont have the knowledge yet to back it up either way so they say its not. We are very complex. Theres more than a million different things that could go wrong during the making of a child. If people were informed before they had a kid I think we'de kill ourselves off because it's just so darn easy for nature to screw up. I had three "normal" children from a previous marriage. My husband had three "normal" children from a previous marriage. And then we had our son with BPES. I have learned that there are REAL mild cases of it. My son has a pretty mild case. When he was littler we searched all the kids baby pictures. My son

looked JUST like my husbands 3rd child. Her eyes were EXACTLY like my sons except he had ptosis and the extra fold of skin on the inside of his eyes. She grew out of that "look" but she has a condition (forget the name) but its just what BPES type1, I think, has. The Dr.'s say its unrelated, that you can't outgrow it. I just don't know. I looked at her baby picture all the time before we had my son(5 years). And I always thought she looked "different". I couldn't explain it. But her baby picture didn't look like her brothers, her sisters, my 3 kids, or any baby picture I had ever seen. Again, she doesnt look like that now but she looked just like my son does now...I just know that he'll never outgrow it. I do feel he'll look pretty good once all the surgeies are done tho. He has a real mild case and he looks WAY different than he did when he was younger. Like his forehead...it used to be flat, couldn't tell he had one. Now his forehead sticks out past

the bridge of his nose. It looks way more "normal". I think once they fix the skin on the inside of his eyes, it's gonna be real hard to tell(once the scars fade). I just want to find a Dr. that knows at least half-way what they're doing. I'm sory for it being so long a post. And I don't mean to sound any certain way. I just wish someone would admit that they don't know everything about it because it's obvious that they don't. Oh yeah, I got side tracked. Something else I wanted to add was that I passed down translocated chromosomes to our son. They tested that and found that every thing relocated just fine. There were no missing fragments or fragment pieces. Here's my opinion....I don't think they know. I think that since my step-daughter looked the way she did and has the reproductive issue and my son is the way he is. I think its related somehow. Especially since his is so mild a case. I think it had something to do with the translocation of his

chromosomes on my side mixed with I don't know what from his daddy. Cause he's already grown out of alot of his "look", if that makes any sense. It just doesnt make since to me that this was a spontanious thing, since neither me or my husband "passed" it down. Not with the way his daughter looked and now we find that she has that other issue. But you cant look at her now and see that theres anything wrong with her other than she still has a broad nasal bridge but her eyes are big and all that. It's just not flat anymore. I don't know. Don't even know what I'm really trying to say except that I know they don't know everything about this.

[Guest guest]

Hello! Welcome to the group!

Shireen, could you please help clarify on this for us again? (you really are extremely knowledgable...also, stats on this would be fantastic! I had a REALLY hard time finding them other than that in the US only 1% of people 'get' bleph). So this is where I get confused. When people say if you do not have BPES, you can not pass it on. The father of Payton and I, DO NOT have BPES (nor anyone in our family heritage ever). Yet, she has it. It is not a mild case. BPES, as I have been told can be hereditary, though does not have to be (as in my case). They can develop it as a "one off" meaning when all the powers that came to be for them, they developed this. My geneticist at Oregon Health Sciences University in Portland, OR. says that there is just no good way to test (or there is no specific test) for the "type" of Bleph that you have. Type 1 vs Type 2. As I understand this, Type 1 comes from the mother, and Type 2 comes from the father.

If you have Type 2 you will not have the fertilization problems that Type 1 BPES patients can have. All with Bleph have a 50% chance of passing to the offspring. Please correct me if I'm wrong, this is what I've learned off of the internet and from my Doctor at the Casey Eye Institute at OHSU in Portland, OR. Although...I'm still fact finding and gathering my information obviously.. :0)

La Haie

Hillsboro, OR. USA

From: ohidontreallyno <ohidontnogmail (DOT) com>Subject: blepharophimosis New here...hello to allblepharophimosisDate: Wednesday, 1 July, 2009, 9:32 PM

Hi, everyone. I'm new here but not new to the subject at hand. I have a son whose 17mos old with BPES. I know nothing about the "condition" and everything I do know I learned on the web. The "specialists" know nothing either, not here where I am anyway. My son goes to Vanderbilt Childrens Hospital in Nashville,TN. I had to tell the genetics Dr. about the FOXL2 gene test. He argued with me that there was no such test. I let him know that there was very much a test available, just not here in the U.S. yet(which I learned on the web). I took my son to have a second opinion since it seemed to me that the Dr.'s that I had been dealing with didn't have a clue as to what they were dealing with. And all I got was..."Well, what did the other Dr. say?". I got no answers. The second Dr. just backed up what the 1st Dr. said without even knowing what the 1st Dr. had said! I don't really think they know everything about BPES. And I don't think they really care.

"It's a cosmetic issue", as I've been told over and over. Nobody cares about this condition to learn about it so they just throw it to the wayside. What they have learned so far is written in stone, theres no if ands or buts about it! They say it's not a recessive gene...how the heck do they know??? I don't think they know...they just dont have the knowledge yet to back it up either way so they say its not. We are very complex. Theres more than a million different things that could go wrong during the making of a child. If people were informed before they had a kid I think we'de kill ourselves off because it's just so darn easy for nature to screw up. I had three "normal" children from a previous marriage. My husband had three "normal" children from a previous marriage. And then we had our son with BPES. I have learned that there are REAL mild cases of it. My son has a pretty mild case. When he was littler we searched all the kids baby pictures. My son

looked JUST like my husbands 3rd child. Her eyes were EXACTLY like my sons except he had ptosis and the extra fold of skin on the inside of his eyes. She grew out of that "look" but she has a condition (forget the name) but its just what BPES type1, I think, has. The Dr.'s say its unrelated, that you can't outgrow it. I just don't know. I looked at her baby picture all the time before we had my son(5 years). And I always thought she looked "different". I couldn't explain it. But her baby picture didn't look like her brothers, her sisters, my 3 kids, or any baby picture I had ever seen. Again, she doesnt look like that now but she looked just like my son does now...I just know that he'll never outgrow it. I do feel he'll look pretty good once all the surgeies are done tho. He has a real mild case and he looks WAY different than he did when he was younger. Like his forehead...it used to be flat, couldn't tell he had one. Now his forehead sticks out past

the bridge of his nose. It looks way more "normal". I think once they fix the skin on the inside of his eyes, it's gonna be real hard to tell(once the scars fade). I just want to find a Dr. that knows at least half-way what they're doing. I'm sory for it being so long a post. And I don't mean to sound any certain way. I just wish someone would admit that they don't know everything about it because it's obvious that they don't. Oh yeah, I got side tracked. Something else I wanted to add was that I passed down translocated chromosomes to our son. They tested that and found that every thing relocated just fine. There were no missing fragments or fragment pieces. Here's my opinion....I don't think they know. I think that since my step-daughter looked the way she did and has the reproductive issue and my son is the way he is. I think its related somehow. Especially since his is so mild a case. I think it had something to do with the translocation of his

chromosomes on my side mixed with I don't know what from his daddy. Cause he's already grown out of alot of his "look", if that makes any sense. It just doesnt make since to me that this was a spontanious thing, since neither me or my husband "passed" it down. Not with the way his daughter looked and now we find that she has that other issue. But you cant look at her now and see that theres anything wrong with her other than she still has a broad nasal bridge but her eyes are big and all that. It's just not flat anymore. I don't know. Don't even know what I'm really trying to say except that I know they don't know everything about this.

[Guest guest]

Hi

I have prepared a draft reply – but I just want somebody to

check it first … then I’ll post it.

You’ll see it this weekend.

Shireen Mohandes

London, England

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of N L

Sent: 02 July 2009 17:57

blepharophimosis

Subject: Re: blepharophimosis New here...hello to all

Hello! Welcome to the group!

Shireen, could you please help clarify on this for us

again? (you really are extremely knowledgable...also, stats on this would be

fantastic! I had a REALLY hard time finding them other than that in the US

only 1% of people 'get' bleph). So this is where I get confused. When people

say if you do not have BPES, you can not pass it on. The father of Payton and

I, DO NOT have BPES (nor anyone in our family heritage ever). Yet, she has

it. It is not a mild case. BPES, as I have been told can be hereditary,

though does not have to be (as in my case). They can develop it as a

" one off " meaning when all the powers that came to be for them,

they developed this. My geneticist at Oregon Health Sciences University in

Portland, OR. says that there is just no good way to test (or there is no

specific test) for the " type " of Bleph that you have. Type 1

vs Type 2. As I understand this, Type 1 comes from the mother, and Type 2

comes from the father. If you have Type 2 you will not have the fertilization

problems that Type 1 BPES patients can have. All with Bleph have a 50% chance

of passing to the offspring. Please correct me if I'm wrong, this is what

I've learned off of the internet and from my Doctor at the Casey Eye

Institute at OHSU in Portland, OR. Although...I'm still fact finding and

gathering my information obviously.. :0)

La Haie

Hillsboro,

OR. USA

--- On Thu, 7/2/09, Clare Teale <clareteale@...>

wrote:

From: Clare Teale

<clareteale@...>

Subject: Re: blepharophimosis New here...hello to all

blepharophimosis

Date: Thursday, July 2, 2009, 1:21 AM

Hello and welcome to this wonderful site.

wow, you poor thing, you must be really frustrated.

You are absolutely right not all doctors not everything

about all of the conditions out there. It is a very rare condition

(shireen could prob give stats). However there are some doctors who

now lots and are very confident in what they do.

It sounds to me like you are someone who will keep

asking the right questions until you find the answers that make sense to

you, and that is good. My mum was told I was blind and sent home, but

she kept asking and asking until she eventually found someone inn London

who helped us. It might be worth asking on this site if anyone else

has used a doc, specialist in your area to contact and at least get some

answers for you.

The things that I know, from having BPES and my

daughter, and having genetic councelling at Great Ormand Street Hopsital in

London, that if someone has BPES they can pass it on, if they do not (have

any signs) of BPES they cannot pass it on, the only way that your son and

your husbands daughter could be connected with having BPES is if your

husband has it. (he would show obvious signs).

Keep reading the posts and looking at pics, and ask

questions, they is a heap of information on this site, some from doctors,

some from people who have experience, but the thing that was important to

me was to find a doctor, specialist who I trusted. Keep looking and

asking.

With Love

Clare Teale Herts UK

--- On Wed, 1/7/09, ohidontreallyno <ohidontnogmail (DOT) com>

wrote:

From: ohidontreallyno <ohidontnogmail (DOT) com>

Subject: blepharophimosis New here...hello to all

blepharophimosis

Date: Wednesday, 1 July, 2009, 9:32 PM

Hi, everyone. I'm new here

but not new to the subject at hand. I have a son whose 17mos old with BPES.

I know nothing about the " condition " and everything I do know I

learned on the web. The " specialists " know nothing either, not

here where I am anyway. My son goes to Vanderbilt Childrens Hospital in

Nashville,TN. I had to tell the genetics Dr. about the FOXL2 gene test. He

argued with me that there was no such test. I let him know that there was

very much a test available, just not here in the U.S. yet(which I learned

on the web). I took my son to have a second opinion since it seemed to me

that the Dr.'s that I had been dealing with didn't have a clue as to what

they were dealing with. And all I got was... " Well, what did the other

Dr. say? " . I got no answers. The second Dr. just backed up what the

1st Dr. said without even knowing what the 1st Dr. had said! I don't really

think they know everything about BPES. And I don't think they really care.

" It's a cosmetic issue " , as I've been told over and over. Nobody

cares about this condition to learn about it so they just throw it to the

wayside. What they have learned so far is written in stone, theres no if

ands or buts about it! They say it's not a recessive gene...how the heck do

they know??? I don't think they know...they just dont have the knowledge

yet to back it up either way so they say its not. We are very complex.

Theres more than a million different things that could go wrong during the

making of a child. If people were informed before they had a kid I think

we'de kill ourselves off because it's just so darn easy for nature to screw

up. I had three " normal " children from a previous marriage. My

husband had three " normal " children from a previous marriage. And

then we had our son with BPES. I have learned that there are REAL mild

cases of it. My son has a pretty mild case. When he was littler we searched

all the kids baby pictures. My son looked JUST like my husbands 3rd child.

Her eyes were EXACTLY like my sons except he had ptosis and the extra fold

of skin on the inside of his eyes. She grew out of that " look "

but she has a condition (forget the name) but its just what BPES type1, I

think, has. The Dr.'s say its unrelated, that you can't outgrow it. I just

don't know. I looked at her baby picture all the time before we had my

son(5 years). And I always thought she looked " different " . I

couldn't explain it. But her baby picture didn't look like her brothers,

her sisters, my 3 kids, or any baby picture I had ever seen. Again, she

doesnt look like that now but she looked just like my son does now...I just

know that he'll never outgrow it. I do feel he'll look pretty good once all

the surgeies are done tho. He has a real mild case and he looks WAY

different than he did when he was younger. Like his forehead...it used to

be flat, couldn't tell he had one. Now his forehead sticks out past the

bridge of his nose. It looks way more " normal " . I think once they

fix the skin on the inside of his eyes, it's gonna be real hard to

tell(once the scars fade). I just want to find a Dr. that knows at least

half-way what they're doing. I'm sory for it being so long a post. And I

don't mean to sound any certain way. I just wish someone would admit that

they don't know everything about it because it's obvious that they don't.

Oh yeah, I got side tracked. Something else I wanted to add was that I

passed down translocated chromosomes to our son. They tested that and found

that every thing relocated just fine. There were no missing fragments or

fragment pieces. Here's my opinion....I don't think they know. I think that

since my step-daughter looked the way she did and has the reproductive

issue and my son is the way he is. I think its related somehow. Especially

since his is so mild a case. I think it had something to do with the

translocation of his chromosomes on my side mixed with I don't know what

from his daddy. Cause he's already grown out of alot of his

" look " , if that makes any sense. It just doesnt make since to me

that this was a spontanious thing, since neither me or my husband

" passed " it down. Not with the way his daughter looked and now we

find that she has that other issue. But you cant look at her now and see

that theres anything wrong with her other than she still has a broad nasal

bridge but her eyes are big and all that. It's just not flat anymore. I

don't know. Don't even know what I'm really trying to say except that I

know they don't know everything about this.

[Guest guest]

,

As I understand it, Type 1 only affects females and not males. Type 1 involves Premature Ovarian Failure, therefore, the boys can never have Type 1, but girls can have Type 1 or Type 2. I was told (by my geneticist) that anyone with BPES has a 50% chance of passing it down, regardless of Type 1 or Type 2.

But again to the OP... the FOXL2 test is available here in the US. They can't tell you Type 1 or Type 2, but since you have a boy, it is assumed he is type 2.

Ann

Denver, Colorado

From: ohidontreallyno <ohidontnogmail (DOT) com>Subject: blepharophimosis New here...hello to allblepharophimosisDate: Wednesday, 1 July, 2009, 9:32 PM

Hi, everyone. I'm new here but not new to the subject at hand. I have a son whose 17mos old with BPES. I know nothing about the "condition" and everything I do know I learned on the web. The "specialists" know nothing either, not here where I am anyway. My son goes to Vanderbilt Childrens Hospital in Nashville,TN. I had to tell the genetics Dr. about the FOXL2 gene test. He argued with me that there was no such test. I let him know that there was very much a test available, just not here in the U.S. yet(which I learned on the web). I took my son to have a second opinion since it seemed to me that the Dr.'s that I had been dealing with didn't have a clue as to what they were dealing with. And all I got was..."Well, what did the other Dr. say?". I got no answers. The second Dr. just backed up what the 1st Dr. said without even knowing what the 1st Dr. had said! I don't really think they know everything about BPES. And I don't think they really care.

"It's a cosmetic issue", as I've been told over and over. Nobody cares about this condition to learn about it so they just throw it to the wayside. What they have learned so far is written in stone, theres no if ands or buts about it! They say it's not a recessive gene...how the heck do they know??? I don't think they know...they just dont have the knowledge yet to back it up either way so they say its not. We are very complex. Theres more than a million different things that could go wrong during the making of a child. If people were informed before they had a kid I think we'de kill ourselves off because it's just so darn easy for nature to screw up. I had three "normal" children from a previous marriage. My husband had three "normal" children from a previous marriage. And then we had our son with BPES. I have learned that there are REAL mild cases of it. My son has a pretty mild case. When he was littler we searched all the kids baby pictures. My son

looked JUST like my husbands 3rd child. Her eyes were EXACTLY like my sons except he had ptosis and the extra fold of skin on the inside of his eyes. She grew out of that "look" but she has a condition (forget the name) but its just what BPES type1, I think, has. The Dr.'s say its unrelated, that you can't outgrow it. I just don't know. I looked at her baby picture all the time before we had my son(5 years). And I always thought she looked "different". I couldn't explain it. But her baby picture didn't look like her brothers, her sisters, my 3 kids, or any baby picture I had ever seen. Again, she doesnt look like that now but she looked just like my son does now...I just know that he'll never outgrow it. I do feel he'll look pretty good once all the surgeies are done tho. He has a real mild case and he looks WAY different than he did when he was younger. Like his forehead...it used to be flat, couldn't tell he had one. Now his forehead sticks out past

the bridge of his nose. It looks way more "normal". I think once they fix the skin on the inside of his eyes, it's gonna be real hard to tell(once the scars fade). I just want to find a Dr. that knows at least half-way what they're doing. I'm sory for it being so long a post. And I don't mean to sound any certain way. I just wish someone would admit that they don't know everything about it because it's obvious that they don't. Oh yeah, I got side tracked. Something else I wanted to add was that I passed down translocated chromosomes to our son. They tested that and found that every thing relocated just fine. There were no missing fragments or fragment pieces. Here's my opinion....I don't think they know. I think that since my step-daughter looked the way she did and has the reproductive issue and my son is the way he is. I think its related somehow. Especially since his is so mild a case. I think it had something to do with the translocation of his

chromosomes on my side mixed with I don't know what from his daddy. Cause he's already grown out of alot of his "look", if that makes any sense. It just doesnt make since to me that this was a spontanious thing, since neither me or my husband "passed" it down. Not with the way his daughter looked and now we find that she has that other issue. But you cant look at her now and see that theres anything wrong with her other than she still has a broad nasal bridge but her eyes are big and all that. It's just not flat anymore. I don't know. Don't even know what I'm really trying to say except that I know they don't know everything about this.

[Guest guest]

Slight delay in posting … am on draft 3 … still peddling away J

Shireen Mohandes

London, England

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of Shireen Mohandes

Sent: 03 July 2009 07:31

blepharophimosis

Subject: RE: blepharophimosis New here...hello to all

Hi

I have prepared a draft reply – but I

just want somebody to check it first … then I’ll post it.

You’ll see it this weekend.

Shireen Mohandes

London, England

From: blepharophimosis [mailto:blepharophimosis ]

On Behalf Of N L

Sent: 02 July 2009 17:57

blepharophimosis

Subject: Re: blepharophimosis New here...hello to all

Hello!

Welcome to the group!

Shireen,

could you please help clarify on this for us again? (you really are

extremely knowledgable...also, stats on this would be fantastic! I had a

REALLY hard time finding them other than that in the US only 1% of people

'get' bleph). So this is where I get confused. When people say if you do not

have BPES, you can not pass it on. The father of Payton and I, DO NOT have

BPES (nor anyone in our family heritage ever). Yet, she has it. It is not a

mild case. BPES, as I have been told can be hereditary, though does not

have to be (as in my case). They can develop it as a " one off "

meaning when all the powers that came to be for them, they developed this. My

geneticist at Oregon Health Sciences University in Portland, OR. says that

there is just no good way to test (or there is no specific test) for the

" type " of Bleph that you have. Type 1 vs Type 2. As I understand

this, Type 1 comes from the mother, and Type 2 comes from the father. If you

have Type 2 you will not have the fertilization problems that Type 1 BPES

patients can have. All with Bleph have a 50% chance of passing to the

offspring. Please correct me if I'm wrong, this is what I've learned off of

the internet and from my Doctor at the Casey Eye Institute at OHSU in

Portland, OR. Although...I'm still fact finding and gathering my information

obviously.. :0)

La Haie

Hillsboro, OR. USA

---

On Thu, 7/2/09, Clare Teale <clareteale@...> wrote:

From:

Clare Teale <clareteale@...>

Subject: Re: blepharophimosis New here...hello to all

blepharophimosis

Date: Thursday, July 2, 2009, 1:21 AM

Hello and welcome to this wonderful site.

wow, you poor thing, you must be really frustrated.

You are absolutely right not all doctors not everything about all of

the conditions out there. It is a very rare condition (shireen could

prob give stats). However there are some doctors who now lots and are

very confident in what they do.

It sounds to me like you are someone who will keep asking the right

questions until you find the answers that make sense to you, and that is

good. My mum was told I was blind and sent home, but she kept asking

and asking until she eventually found someone inn London who helped

us. It might be worth asking on this site if anyone else has used a

doc, specialist in your area to contact and at least get some answers for

you.

The things that I know, from having BPES and my daughter, and having

genetic councelling at Great Ormand Street Hopsital in London, that if

someone has BPES they can pass it on, if they do not (have any signs) of

BPES they cannot pass it on, the only way that your son and your husbands

daughter could be connected with having BPES is if your husband has it. (he

would show obvious signs).

Keep reading the posts and looking at pics, and ask questions, they

is a heap of information on this site, some from doctors, some from people

who have experience, but the thing that was important to me was to find a

doctor, specialist who I trusted. Keep looking and asking.

With Love

Clare Teale Herts UK

--- On Wed, 1/7/09, ohidontreallyno <ohidontnogmail (DOT) com>

wrote:

From: ohidontreallyno <ohidontnogmail (DOT) com>

Subject: blepharophimosis New here...hello to all

blepharophimosis

Date: Wednesday, 1 July, 2009, 9:32 PM

Hi, everyone. I'm new here but not new to the subject at hand. I have

a son whose 17mos old with BPES. I know nothing about the

" condition " and everything I do know I learned on the web. The

" specialists " know nothing either, not here where I am anyway. My

son goes to Vanderbilt Childrens Hospital in Nashville,TN. I had to tell

the genetics Dr. about the FOXL2 gene test. He argued with me that there

was no such test. I let him know that there was very much a test available,

just not here in the U.S. yet(which I learned on the web). I took my son to

have a second opinion since it seemed to me that the Dr.'s that I had been

dealing with didn't have a clue as to what they were dealing with. And all

I got was... " Well, what did the other Dr. say? " . I got no

answers. The second Dr. just backed up what the 1st Dr. said without even

knowing what the 1st Dr. had said! I don't really think they know

everything about BPES. And I don't think they really care. " It's a

cosmetic issue " , as I've been told over and over. Nobody cares about

this condition to learn about it so they just throw it to the wayside. What

they have learned so far is written in stone, theres no if ands or buts

about it! They say it's not a recessive gene...how the heck do they know???

I don't think they know...they just dont have the knowledge yet to back it

up either way so they say its not. We are very complex. Theres more than a

million different things that could go wrong during the making of a child.

If people were informed before they had a kid I think we'de kill ourselves

off because it's just so darn easy for nature to screw up. I had three

" normal " children from a previous marriage. My husband had three

" normal " children from a previous marriage. And then we had our

son with BPES. I have learned that there are REAL mild cases of it. My son

has a pretty mild case. When he was littler we searched all the kids baby

pictures. My son looked JUST like my husbands 3rd child. Her eyes were

EXACTLY like my sons except he had ptosis and the extra fold of skin on the

inside of his eyes. She grew out of that " look " but she has a

condition (forget the name) but its just what BPES type1, I think, has. The

Dr.'s say its unrelated, that you can't outgrow it. I just don't know. I

looked at her baby picture all the time before we had my son(5 years). And

I always thought she looked " different " . I couldn't explain it.

But her baby picture didn't look like her brothers, her sisters, my 3 kids,

or any baby picture I had ever seen. Again, she doesnt look like that now

but she looked just like my son does now...I just know that he'll never

outgrow it. I do feel he'll look pretty good once all the surgeies are done

tho. He has a real mild case and he looks WAY different than he did when he

was younger. Like his forehead...it used to be flat, couldn't tell he had

one. Now his forehead sticks out past the bridge of his nose. It looks way

more " normal " . I think once they fix the skin on the inside of

his eyes, it's gonna be real hard to tell(once the scars fade). I just want

to find a Dr. that knows at least half-way what they're doing. I'm sory for

it being so long a post. And I don't mean to sound any certain way. I just

wish someone would admit that they don't know everything about it because

it's obvious that they don't. Oh yeah, I got side tracked. Something else I

wanted to add was that I passed down translocated chromosomes to our son.

They tested that and found that every thing relocated just fine. There were

no missing fragments or fragment pieces. Here's my opinion....I don't think

they know. I think that since my step-daughter looked the way she did and

has the reproductive issue and my son is the way he is. I think its related

somehow. Especially since his is so mild a case. I think it had something

to do with the translocation of his chromosomes on my side mixed with I

don't know what from his daddy. Cause he's already grown out of alot of his

" look " , if that makes any sense. It just doesnt make since to me

that this was a spontanious thing, since neither me or my husband

" passed " it down. Not with the way his daughter looked and now we

find that she has that other issue. But you cant look at her now and see

that theres anything wrong with her other than she still has a broad nasal

bridge but her eyes are big and all that. It's just not flat anymore. I

don't know. Don't even know what I'm really trying to say except that I

know they don't know everything about this.