Re: My baby boy Kai's story

[Guest guest]

Yes In some sort of way I do. But......In the greater view of things ...Life can be MUCH worse.

I am 6 1/2 months pregnant with my 3rd ..both boys have it ...and I am scared to death my daughter will too.....but then there are much worse things she can have. So in the gre3ater scheme of life .....I am happy they are other wise healthy and I was able to give birth to such wonderful caring huband beings :-) .................Took me a while to see things this way ...After (7) surgeries ( both kids combined) and seeing what else others had in the hospital ...I am greatful for what I was blessed with....Good Luck I know it is heart wrenching. <jennyfur412@...> wrote:

When my baby still wasn't opening his eyes at 1 month, mother's instinct told me there was something wrong. Yet, every time I brought it up to his pediatrition, he told me nothing was wrong. I wasn't satisified. By this time my son showed signs of tilting his head back to see and raising his eyebrows. I took him to an eye specialist immediately. The doc took one look at him and diagnosed him on the spot. Blepharophimosis, he told my husband and I. I went into shock. My perfect angel was not so perfect in the medical world. Were do we go from here I asked. He referred us to the best eye surgeon. Dr. Goldburg at the Jules stein Institute. This doctor was spotlighted on the discovery channel doing the same surgery as my son will have. It was a breath of relief knowing he will have the best. I refuse to lie, I am angry that my son

has to have this dibilating syndrome and that he has to go through so much at such a young age. My heart weeps for him because he doesn't understand why he can't see very well. Does anyone else share my anger and frustration? My beautiful son's momma,Jenn

[Guest guest]

HI there:)

You mention below that your child couldn't have gotten bleph from you unless you have it etc...My husband and I don't have bpes, nor does anyone else on our families? so why was our 2nd son born with it and our 1st was not??? thats the question we ALWAYS get asked....and ask ourselves?....

-- blepharophimosis My baby boy Kai's story

>

>

>

> When my baby still wasn't opening his eyes at 1 month, mother's

> instinct told me there was something wrong. Yet, every time I

brought

> it up to his pediatrition, he told me nothing was wrong. I wasn't

> satisified. By this time my son showed signs of tilting his head

back

> to see and raising his eyebrows. I took him to an eye specialist

> immediately. The doc took one look at him and diagnosed him on the

> spot. Blepharophimosis, he told my husband and I. I went into

shock.

> My perfect angel was not so perfect in the medical world. Were do

we

> go from here I asked. He referred us to the best eye surgeon. Dr.

> Goldburg at the Jules stein Institute. This doctor was spotlighted

on

> the discovery channel doing the same surgery as my son will have.

It

> was a breath of relief knowing he will have the best. I refuse to

> lie, I am angry that my son has to have this dibilating syndrome

and

> that he has to go through so much at such a young age. My heart

weeps

> for him because he doesn't understand why he can't see very well.

> Does anyone else share my anger and frustration?

>

> My beautiful son's momma,

> Jenn

>

>

>

>

>

>

>

[Guest guest]

costellos wrote:

> You mention below that your child couldn't have gotten bleph from you unless

> you have it etc...My husband and I don't have bpes, nor does anyone else on

> our families? so why was our 2nd son born with it and our 1st was not???

> thats the question we ALWAYS get asked....and ask ourselves?....

I don't believe it's accurate to say " Your child has BPEI, therefore you

must have it " . It can occur spontaneously - after all, any gene anomaly

has to start somewhere, dominant or not. It's possible for people to

have BPEI with very mildly expressed symptoms, and so not appear to have

it - like my father (whose sister had it fully expressed) and my son.

I've seen plenty of posts by folks on this forum whose child has BPEI

but they definitely don't.

One the other hand, to say " if you have BPEI, there's a 50% chance your

child will have it " , *IS* accurate.

>> Your child couldn't have gotten BPES from you unless you have it,

....

>> it's a dominant gene, if you have the gene, you have the trait.

Inaccurate on both counts, in my experience.

Rob W.

[Guest guest]

What I was referring to was the possiblity that someone else in her

family has it and therefore Kai got it " from " them. Either you get it

from a parent or it is spontaneous. It doesnt skip a generation or

something like that. You have to read the whole message. Sorry!

>

> > You mention below that your child couldn't have gotten bleph from

you unless

> > you have it etc...My husband and I don't have bpes, nor does

anyone else on

> > our families? so why was our 2nd son born with it and our 1st was

not???

> > thats the question we ALWAYS get asked....and ask

ourselves?....

>

> I don't believe it's accurate to say " Your child has BPEI,

therefore you

> must have it " . It can occur spontaneously - after all, any gene

anomaly

> has to start somewhere, dominant or not. It's possible for people

to

> have BPEI with very mildly expressed symptoms, and so not appear to

have

> it - like my father (whose sister had it fully expressed) and my

son.

> I've seen plenty of posts by folks on this forum whose child has

BPEI

> but they definitely don't.

>

> One the other hand, to say " if you have BPEI, there's a 50% chance

your

> child will have it " , *IS* accurate.

>

> >> Your child couldn't have gotten BPES from you unless you have it,

> ...

> >> it's a dominant gene, if you have the gene, you have the trait.

>

> Inaccurate on both counts, in my experience.

>

> Rob W.

[Guest guest]

> What I was referring to was the possiblity that someone else in her

> family has it and therefore Kai got it " from " them. Either you get it

> from a parent or it is spontaneous. It doesnt skip a generation or

> something like that. You have to read the whole message. Sorry!

Ah yes, the joys of e-mail and forum postings: always so easy to

misunderstand. I see what you mean, now, and you're quite right. Thanks

for the clarification.

Rob W.

[Guest guest]

Hi April & Kim,

Ditto to the reading of Purpose Driven Life - we completed it last

year.

I`m Maree from NZ.I know its been a while since you posted that

message - I`m a bit behind with all these posts! We`ve had the

greatest summer so spending time outdoors.......

Nice to hear about your lovely family April - bless you for what

you`re doing. I would love to adopt babies from China (I have

actually visited them!) but not so easy from here.

I`m the first in my family with BPES & I passed it to our only child

who is now 18yrs old & beautiful! You can see her under Maree &

& Ethan - we visited his lovely family last year in the South

Island.

Welcome to all the newcomers - hard to believe there are getting to

be so many out there!!

God Bless again

Maree

> > Hi Jenn:

> >

> > My 6 month old son was diagnosed with BPES two

> > months ago. It was not a huge shock as we knew

> > there were some issues since his eyes/eyelids did

> > not look normal. It took us 4 months to get an

> > appointment with a geneticist who, along with a

> > genetic counselor, knew his condition immediately.

> > The 4 month wait was the hardest part. My first son

> > does not have the disorder, nor has it ever been

> > seen in our families so we are trying to educate

> > ourselves as quickly as possible.

> >

> > It is absolutely normal to hope and pray for an

> > uncomplicated pregnancy and delivery, as well as a

> > healthy and " normal " child. I certainly did. God

> > blessed us with a beautiful, sweet child who is as

> > special as any other child ever born. I have found

> > great comfort in knowing that God has a special

> > purpose for my son's life, as he does with every

> > person he's ever created. (I'm not sure if I'm

> > allowed to recommend a book, but if so 'The

> > Purpose-Driven Life' is an excellent resource.) I

> > believe my son's diagnosis gives me a great

> > opportunity to teach my both of my children life

> > lessons that will make them more compassionate, less

> > judgmental, more loving and accepting of people who

> > are considered " different " by society's standards.

> > I also believe that our children will be more likely

> > to accept themselves as they are if we don't feel

> > sorry for them and don't become angry that they are

> > less than perfect. Kids are bright and will pick up

> > on it. Another thought I've kept in the back of my

> > mind is that just because kids are born " perfect " or

> > " healthy " doesn't mean they will stay that way.

> > Perfect or healthy children become sick, terminally

> > ill or seriously injured all the time...there are

> > simply no guarantees. We have great reason to

> > celebrate these beautiful children and their lives.

> > Life itself is beautiful in its many forms.

> >

> > I hope you find great encouragement from this site

> > as I have in the last couple of months. The initial

> > diagnosis of BPES may be disappointing, but finding

> > good doctors and surgeons can make all the

> > difference in the world. I am thrilled to hear that

> > you have found an excellent surgeon - sometimes

> > that's the biggest challenge. And one more

> > thing...as someone mentioned earlier, in most cases

> > the visible signs of this syndrome really do

> > minimize with age and at the hands of skilled

> > surgeons. I wish you the best.

> >

> > Kim

> > -------------- Original message --------------

> >

> > When my baby still wasn't opening his eyes at 1

> > month, mother's

> > instinct told me there was something wrong. Yet,

> > every time I brought

> > it up to his pediatrition, he told me nothing was

> > wrong. I wasn't

> > satisified. By this time my son showed signs of

> > tilting his head back

> > to see and raising his eyebrows. I took him to an

> > eye specialist

> > immediately. The doc took one look at him and

> > diagnosed him on the

> > spot. Blepharophimosis, he told my husband and I. I

> > went into shock.

> > My perfect angel was not so perfect in the medical

> > world. Were do we

> > go from here I asked. He referred us to the best eye

> > surgeon. Dr.

> > Goldburg at the Jules stein Institute. This doctor

> > was spotlighted on

> > the discovery channel doing the same surgery as my

> > son will have. It

> > was a breath of relief knowing he will have the

> > best. I refuse to

> > lie, I am angry that my son has to have this

> > dibilating syndrome and

> > that he has to go through so much at such a young

> > age. My heart weeps

> > for him because he doesn't understand why he can't

> > see very well.

> > Does anyone else share my anger and frustration?

> >

> > My beautiful son's momma,

> > Jenn

> >

> >

> >

> >

> >

> >