New to the group

November 26, 2003

When my daughter was small she had some tests done on her heart because of the murmur. (EKG and an ultrasound?) and they were all normal so... Maybe I shouldn't freak out.

November 26, 2003

Our (mildly) bleph son also had very severe reflux (ulcerated

oesophagus, etc), and failed to thrive as a result. Turns out he was

born with a sliding hiatus hernia which required fundoplication surgery

when he was 8 months old. I've seen a journal article that lists

reflux/hiatus-hernia/etc as one of the other things that sometimes

occurs along with BPEI. Like Kristyn, my son also had an " innocent "

heart murmur when very young (not now: he's 11), so maybe that's another

thing that sometimes ocurs along with BPEI.

Rob

tltne wrote:

> Hi ...Just had a question, You mentioned all the problems that your

> son had as a baby...reflux...not sleeping through the night...failure to

> thrive...etc...Do you think that is because he has blephs?...or was this

> from other reasons?...Our son has blephs, only one in the family who does?..

> Well so far he has been a dream, he has always been a great sleeper, never

> been sick, just the odd cold, happy all the time! He has a smile that

> lights up a room:)... So I was just curious as to what you mean, if you

> associate all those things with having blephs! To us, he just has narrow

> eyelids, nothing else...

>

[snip}

and, earlier, Kristyn wrote:

> Hello,

>

> After 5 years of doc's and people saying " there is something going on

> w/your son but we can't put our finger on it " we have a diagnosis. I

> just received the letter from our genetics doctor, he has BPES, they

> are still unsure of the type, and both my husband and I are

> unaffected w/the gene.

[...]

>

> When he was a baby he NEVER slept through the night, was a poor

> feeder and had severe reflux. He was taken off all milk proteins

> which cleared him from all reflux medication. He was failure to

> thrive and both me and our pediatrician at the time both fought the

> stomach tube and won! Since his ptosis was the only thing detected,

> although he had a murmur at birth, my pediatrician had enough insight

> to say that he may have a syndrome, he just didn't know what kind, so

> we were just happy he was finally over his severe reflux. He did

> very well for about 2 years. At 3 years old they heard the murmur

> again (wicked hard to detect even by his cardiologist) and had an

> irregular ekg and our new pediatrician (We moved to Mass) sent us

> straight to childrens hospital, he was diagnosed w/a VSD. Since then

> he has had a tube removed from his ears, found to have conductive

> hearing loss, tubes put back in, and several procedures to determine

> why he has a chronic cough. He has polyps on his vocal chords, which

> he will need voice therapy for. And is once again having problems

> w/his tubes, his ENT and I see each other regularly!!

>

> Kristyn

November 26, 2003

Kristyn,

My daughter also had severe reflux when she was younger. Is that related to VSD?

I had a nagging feeling the reflux was somehow connected to Bleph and now I am

pretty sure. You are I think the 3rd parent who's child had reflux problems

also. Now I am worried about the VSD She had her heart checked when she was

in the hospital she had a small murmur but the DR said it was a pulmonary one

and would heal itself and noone has heard it since. She has no other problems.

November 26, 2003

I don't think reflux is connected at all to blephs...my best friends son had reflux, also my cousins son, and they don't have blephs...my 1st son was a real *spitter upper* could have been reflux, but never got told it was...and he doesn't have blephs either! reflux is a very comman thing among any baby...

-- Re: blepharophimosis new to the group

Kristyn,My daughter also had severe reflux when she was younger. Is that related to VSD? I had a nagging feeling the reflux was somehow connected to Bleph and now I am pretty sure. You are I think the 3rd parent who's child had reflux problems also. Now I am worried about the VSD She had her heart checked when she was in the hospital she had a small murmur but the DR said it was a pulmonary one and would heal itself and noone has heard it since. She has no other problems.

November 26, 2003

what is VSD???

-- Re: blepharophimosis new to the group

Kristyn,My daughter also had severe reflux when she was younger. Is that related to VSD? I had a nagging feeling the reflux was somehow connected to Bleph and now I am pretty sure. You are I think the 3rd parent who's child had reflux problems also. Now I am worried about the VSD She had her heart checked when she was in the hospital she had a small murmur but the DR said it was a pulmonary one and would heal itself and noone has heard it since. She has no other problems.

November 26, 2003

My son's reflux may or not be related to blephs, it was just the

beginning of his problems. But, I have already heard from a few

other people from the group that their child had reflux. Since this

is all so new to me I am not sure but I will be discussing it w/hhis

genetics specialist. His VSD has been associated w/blephs, and I

think his problems w/his ears and conductive hhearing loss.

Our son is the only one in the family w/blephs too!

> Hi ...Just had a question, You mentioned all the problems

that your

> son had as a baby...reflux...not sleeping through the

night...failure to

> thrive...etc...Do you think that is because he has blephs?...or was

this

> from other reasons?...Our son has blephs, only one in the family

who does?..

> Well so far he has been a dream, he has always been a great

sleeper, never

> been sick, just the odd cold, happy all the time! He has a smile

that

> lights up a room:)... So I was just curious as to what you mean, if

you

> associate all those things with having blephs! To us, he just has

narrow

> eyelids, nothing else...

>

> -- blepharophimosis new to the group

>

> Hello,

>

> After 5 years of doc's and people saying " there is something going

on

> w/your son but we can't put our finger on it " we have a diagnosis.

I

> just received the letter from our genetics doctor, he has BPES,

they

> are still unsure of the type, and both my husband and I are

> unaffected w/the gene.

>

> When he was a baby he NEVER slept through the night, was a poor

> feeder and had severe reflux. He was taken off all milk proteins

> which cleared him from all reflux medication. He was failure to

> thrive and both me and our pediatrician at the time both fought the

> stomach tube and won! Since his ptosis was the only thing

detected,

> although he had a murmur at birth, my pediatrician had enough

insight

> to say that he may have a syndrome, he just didn't know what kind,

so

> we were just happy he was finally over his severe reflux. He did

> very well for about 2 years. At 3 years old they heard the murmur

> again (wicked hard to detect even by his cardiologist) and had an

> irregular ekg and our new pediatrician (We moved to Mass) sent us

> straight to childrens hospital, he was diagnosed w/a VSD. Since

then

> he has had a tube removed from his ears, found to have conductive

> hearing loss, tubes put back in, and several procedures to

determine

> why he has a chronic cough. He has polyps on his vocal chords,

which

> he will need voice therapy for. And is once again having problems

> w/his tubes, his ENT and I see each other regularly!!

>

> His VSD seems to be closing on it's own...thankfully! BUT..he has

> been on medication to stop the racing of his heart, heartrate at

160

> at rest and he would get cold and clammy. The meds are working for

> this, he now has a second cardiologist who specializes in

> electrophysiology that sees him every 6 months.

>

> He was just prescribed glasses. His left eye is MUCH worse than

his

> right, his eyelids are not severely closed but I always get

comments

> from people everywhere I go at how tired he looks.

>

> I am happy to find a support group! I feel truly blessed that he

has

> only had a few surgeries and surgical procedures in his lifetime.

> And am very thankful that he is so active funny and doing so well

in

> school.

>

> I would love to correspond w/someone in the same situation with

me. '

>

> Thanks for listening to me babble on and on!!

>

> Kristyn

>

November 26, 2003

The VSD or ventrical septal defect, small hole in the bottom of the

heart, was only detected about 2 years ago. Although a murmur was

heard when he was born, it was not heard again until he was 3. Just

to let you know, his EKG was irregular and indicated a murmur, but

the cardiologist even had a hard time hearing it, it was easily

missed, and took her a LONG time to finally hear it. Now it is LOUD

and CLEAR which I was told means that it is closing and his

echocardiogram showed that it is closing on its own. Maybe your

daughters has already closed.

> what is VSD???

>

> -- Re: blepharophimosis new to the group

>

> Kristyn,

> My daughter also had severe reflux when she was younger. Is that

related to

> VSD? I had a nagging feeling the reflux was somehow connected to

Bleph and

> now I am pretty sure. You are I think the 3rd parent who's child

had reflux

> problems also. Now I am worried about the VSD She had her heart

checked

> when she was in the hospital she had a small murmur but the DR said

it was a

> pulmonary one and would heal itself and noone has heard it since.

She has no

> other problems.

>

November 26, 2003

When u were pregnant, did they find anything at the 18 weeks scan(2nd scan)...?I was told my baby had an echogenic cardiac focus(bright spot on the heart)....and also choroid plexus cysts(on the brain)...was told that together I could have baby with downs...but unlikely...the cysts almost always resolve themselves while in utero! which they did...come a scan we had at 33 weeks, the bright spot was still there though...he was checked for a heart murmer when he was born, but he was all good:) he was born with blephs instead...still wonder if there is a link in what they found at the scan!...could be...

-- blepharophimosis new to the group> > Hello,> > After 5 years of doc's and people saying "there is something going on > w/your son but we can't put our finger on it" we have a diagnosis. I > just received the letter from our genetics doctor, he has BPES, they > are still unsure of the type, and both my husband and I are > unaffected w/the gene. > > When he was a baby he NEVER slept through the night, was a poor > feeder and had severe reflux. He was taken off all milk proteins > which cleared him from all reflux medication. He was failure to > thrive and both me and our pediatrician at the time both fought the > stomach tube and won! Since his ptosis was the only thing detected, > although he had a murmur at birth, my pediatrician had enough insight > to say that he may have a syndrome, he just didn't know what kind, so > we were just happy he was finally over his severe reflux. He did > very well for about 2 years. At 3 years old they heard the murmur > again (wicked hard to detect even by his cardiologist) and had an > irregular ekg and our new pediatrician (We moved to Mass) sent us > straight to childrens hospital, he was diagnosed w/a VSD. Since then > he has had a tube removed from his ears, found to have conductive > hearing loss, tubes put back in, and several procedures to determine > why he has a chronic cough. He has polyps on his vocal chords, which > he will need voice therapy for. And is once again having problems > w/his tubes, his ENT and I see each other regularly!! > > His VSD seems to be closing on it's own...thankfully! BUT..he has > been on medication to stop the racing of his heart, heartrate at 160 > at rest and he would get cold and clammy. The meds are working for > this, he now has a second cardiologist who specializes in > electrophysiology that sees him every 6 months. > > He was just prescribed glasses. His left eye is MUCH worse than his > right, his eyelids are not severely closed but I always get comments > from people everywhere I go at how tired he looks. > > I am happy to find a support group! I feel truly blessed that he has > only had a few surgeries and surgical procedures in his lifetime. > And am very thankful that he is so active funny and doing so well in > school. > > I would love to correspond w/someone in the same situation with me. '> > Thanks for listening to me babble on and on!! > > Kristyn> > > > >

November 26, 2003

Nothing was wrong during pregnancy as far as showing up on the

ultrasound. I was told by several people that he looked like he had

downs when he was born though. But it was just because of the

ptosis.

> > Hi ...Just had a question, You mentioned all the problems

> that your

> > son had as a baby...reflux...not sleeping through the

> night...failure to

> > thrive...etc...Do you think that is because he has blephs?...or

was

> this

> > from other reasons?...Our son has blephs, only one in the family

> who does?..

> > Well so far he has been a dream, he has always been a great

> sleeper, never

> > been sick, just the odd cold, happy all the time! He has a smile

> that

> > lights up a room:)... So I was just curious as to what you mean,

if

> you

> > associate all those things with having blephs! To us, he just has

> narrow

> > eyelids, nothing else...

> >

> > -- blepharophimosis new to the group

> >

> > Hello,

> >

> > After 5 years of doc's and people saying " there is something

going

> on

> > w/your son but we can't put our finger on it " we have a

diagnosis.

> I

> > just received the letter from our genetics doctor, he has BPES,

> they

> > are still unsure of the type, and both my husband and I are

> > unaffected w/the gene.

> >

> > When he was a baby he NEVER slept through the night, was a poor

> > feeder and had severe reflux. He was taken off all milk proteins

> > which cleared him from all reflux medication. He was failure to

> > thrive and both me and our pediatrician at the time both fought

the

> > stomach tube and won! Since his ptosis was the only thing

> detected,

> > although he had a murmur at birth, my pediatrician had enough

> insight

> > to say that he may have a syndrome, he just didn't know what

kind,

> so

> > we were just happy he was finally over his severe reflux. He did

> > very well for about 2 years. At 3 years old they heard the

murmur

> > again (wicked hard to detect even by his cardiologist) and had an

> > irregular ekg and our new pediatrician (We moved to Mass) sent us

> > straight to childrens hospital, he was diagnosed w/a VSD. Since

> then

> > he has had a tube removed from his ears, found to have conductive

> > hearing loss, tubes put back in, and several procedures to

> determine

> > why he has a chronic cough. He has polyps on his vocal chords,

> which

> > he will need voice therapy for. And is once again having

problems

> > w/his tubes, his ENT and I see each other regularly!!

> >

> > His VSD seems to be closing on it's own...thankfully! BUT..he

has

> > been on medication to stop the racing of his heart, heartrate at

> 160

> > at rest and he would get cold and clammy. The meds are working

for

> > this, he now has a second cardiologist who specializes in

> > electrophysiology that sees him every 6 months.

> >

> > He was just prescribed glasses. His left eye is MUCH worse than

> his

> > right, his eyelids are not severely closed but I always get

> comments

> > from people everywhere I go at how tired he looks.

> >

> > I am happy to find a support group! I feel truly blessed that he

> has

> > only had a few surgeries and surgical procedures in his

lifetime.

> > And am very thankful that he is so active funny and doing so well

> in

> > school.

> >

> > I would love to correspond w/someone in the same situation with

> me. '

> >

> > Thanks for listening to me babble on and on!!

> >

> > Kristyn

> >

November 26, 2003

oh okay....I never got that he looked like downs when he was new born...may-be now I think people are thinking that!....The steers are what really get to me ha!....people are so rude...I know when someone doesn't look quite the same as the average joe...we all steer...but when its your baby, it hurts:(...People look at him in his stroller, then look straight up at me and my husband and son...I see it ALL the time!....I got a comment from a little boy...he asked if he was blind!...and said he looked funny! I didn't appreciate it I will tell you!...but then I get a real nice comment like a lady the other day...ethan was smiling at her, with his beautiful HUGE smile, and she said *look at that big beautiful smile*...I said he has a huge smile! she said the kind that makes your eyes water:)....isn't that just so nice!...thats makes my day, afetr he has been steered at so much...

-- blepharophimosis new to the group> > > > Hello,> > > > After 5 years of doc's and people saying "there is something going > on > > w/your son but we can't put our finger on it" we have a diagnosis. > I > > just received the letter from our genetics doctor, he has BPES, > they > > are still unsure of the type, and both my husband and I are > > unaffected w/the gene. > > > > When he was a baby he NEVER slept through the night, was a poor > > feeder and had severe reflux. He was taken off all milk proteins > > which cleared him from all reflux medication. He was failure to > > thrive and both me and our pediatrician at the time both fought the > > stomach tube and won! Since his ptosis was the only thing > detected, > > although he had a murmur at birth, my pediatrician had enough > insight > > to say that he may have a syndrome, he just didn't know what kind, > so > > we were just happy he was finally over his severe reflux. He did > > very well for about 2 years. At 3 years old they heard the murmur > > again (wicked hard to detect even by his cardiologist) and had an > > irregular ekg and our new pediatrician (We moved to Mass) sent us > > straight to childrens hospital, he was diagnosed w/a VSD. Since > then > > he has had a tube removed from his ears, found to have conductive > > hearing loss, tubes put back in, and several procedures to > determine > > why he has a chronic cough. He has polyps on his vocal chords, > which > > he will need voice therapy for. And is once again having problems > > w/his tubes, his ENT and I see each other regularly!! > > > > His VSD seems to be closing on it's own...thankfully! BUT..he has > > been on medication to stop the racing of his heart, heartrate at > 160 > > at rest and he would get cold and clammy. The meds are working for > > this, he now has a second cardiologist who specializes in > > electrophysiology that sees him every 6 months. > > > > He was just prescribed glasses. His left eye is MUCH worse than > his > > right, his eyelids are not severely closed but I always get > comments > > from people everywhere I go at how tired he looks. > > > > I am happy to find a support group! I feel truly blessed that he > has > > only had a few surgeries and surgical procedures in his lifetime. > > And am very thankful that he is so active funny and doing so well > in > > school. > > > > I would love to correspond w/someone in the same situation with > me. '> > > > Thanks for listening to me babble on and on!! > > > > Kristyn> > > > > > > > > >

November 26, 2003

Hi Kristyn, It sounds like you've had quite allot to deal with. We have a daughter with both BPES and Duane's Syndrome. She's turning the big 1 next week. She was actually a twin, but when I was 6 weeks pregnant, I lost her brother or sister with miscarriage. I had a huge heamatoma (sp?) which was growing at a rate faster than the babies, and was overtaking utero. Fortunately it dissolved at 3 months, and preg progressed normally. Our daughter Alyssa doesn't appear to have any other problems except sensitivity to light which goes with BPES, and sensitive hearing which goes with Duanes. We're so thankful for her...shes a real sweetie. Shes the only one also in our family with either syndromes.

She hasn't had any surgeries yet, but will in time. One of her older sisters now 12 years, had really bad reflux as a baby and had to be put on gaviscon to hold her milk down. I remember not wanting to go out because she would spew everywhere we went! and all over people it was embarrassing :-)

blepharophimosis new to the groupHello,After 5 years of doc's and people saying "there is something going on w/your son but we can't put our finger on it" we have a diagnosis. I just received the letter from our genetics doctor, he has BPES, they are still unsure of the type, and both my husband and I are unaffected w/the gene. When he was a baby he NEVER slept through the night, was a poor feeder and had severe reflux. He was taken off all milk proteins which cleared him from all reflux medication. He was failure to thrive and both me and our pediatrician at the time both fought the stomach tube and won! Since his ptosis was the only thing detected, although he had a murmur at birth, my pediatrician had enough insight to say that he may have a syndrome, he just didn't know what kind, so we were just happy he was finally over his severe reflux. He did very well for about 2 years. At 3 years old they heard the murmur again (wicked hard to detect even by his cardiologist) and had an irregular ekg and our new pediatrician (We moved to Mass) sent us straight to childrens hospital, he was diagnosed w/a VSD. Since then he has had a tube removed from his ears, found to have conductive hearing loss, tubes put back in, and several procedures to determine why he has a chronic cough. He has polyps on his vocal chords, which he will need voice therapy for. And is once again having problems w/his tubes, his ENT and I see each other regularly!! His VSD seems to be closing on it's own...thankfully! BUT..he has been on medication to stop the racing of his heart, heartrate at 160 at rest and he would get cold and clammy. The meds are working for this, he now has a second cardiologist who specializes in electrophysiology that sees him every 6 months. He was just prescribed glasses. His left eye is MUCH worse than his right, his eyelids are not severely closed but I always get comments from people everywhere I go at how tired he looks. I am happy to find a support group! I feel truly blessed that he has only had a few surgeries and surgical procedures in his lifetime. And am very thankful that he is so active funny and doing so well in school. I would love to correspond w/someone in the same situation with me. 'Thanks for listening to me babble on and on!! Kristyn

June 22, 2004

In a message dated 6/22/2004 11:04:29 AM Pacific Daylight Time,

mizzcrabbyazz@... writes:

HI, I am curious to know if anyone knows of any case of discoid

lupus, after being exposed to something that caused a rash only

after being in the building approximately 45 min, and it would

continue til being out of the building about the same time. 2

months after working in this place, and having the severe rash

everyday being there, I went into anaphalatic shock. Now, since

that time, I have always developed a rash while being outside, or

being hot. And of course, a overall feeling of sickness comes with

it. I had no clue what it was. But it all makes sense now, since

NEVER before being in that building did I ever have a problem. I

believe that whatever I was exposed to induced the discoid

lupus...Has anyone ever experienced anything like this, or heard of

it happening?

Carla

contact Dr. Doris Rapp or an environmental dr. of your choice, perhaps, for

this

http://drrapp.com/

It certainly ties in with the reading I have done regarding what sick

buildings can do.

June 22, 2004