New here...hello to all

[Guest guest]

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.