Re: BPES 1

[Guest guest]

Hi, my name is Janice, I'm from Indiana, USA. I have BPES and so do my 2sisters and 1 of my brothers. My sisters very rarely had periods, neither have children. I, on the hand, had periods from the time I was 13. I thought I would be able to have children but by the time I was 20-21 I had started to skip periods. About 5 years after I was married we started trying to have a baby. I was still having problems with my periods, skipping, very light if at all. I went to Indianapolis, to IU Med Center. The geneticist informed me that it was very likely I would never get pregnant because of POF. He told me the best chance for me to have gotten pregnant was when I was VERY young. 15-16. But you and your daughter know early, so maybe they can start some kind of therapy or maybe freeze her eggs now. I am so glad that you are looking into this at this time in her life. Not being able to have a baby was one of the hardest things I have ever had to go through. Also, my

oldest sister is 59 and has just found out she have osteoporosis, she never had periods so she never has taken hormone replacement therapy. I'm sorry this is so long. If you have any questions I am more than willing to answer them if I can. The more info we give each other the better. Hope to hear from you and good luck. Janicelaurelandhester <laurelandhester@...> wrote: hi everyone. Today we had the results of tests to do with my daughter's lack of periods, and we have found that she has POF

(premature ovarian failure) linked probably to BPES type 1.She is being referred to a geneticist. I wonder if anyone in the support group has any experience and advice to offer, and could get in touch. Thanks, Laurel

Boardwalk for $500? In 2007? Ha! Play Monopoly Here and Now (it's updated for today's economy) at Games.

[Guest guest]

Hi Laurel,

My daughter is 13 almost 14 years of age and she has not yet been

diagnosed with POF. I was wondering what test they did to determine

that your daughter has POF. Hannah has not yet started her period and

she goes to an endocrinologist and they have checked her thyroids and

they are fine. So I am wondering if there is another test they can do

to determine POF. I know that there are not alot of Dr's in the USA

who do not understand or know about BPES. We live in New Hampshire USA.

Thanks for sharing,

on

>

> hi everyone. Today we had the results of tests to do with my

daughter's

> lack of periods, and we have found that she has POF (premature

ovarian

> failure) linked probably to BPES type 1.She is being referred to a

> geneticist. I wonder if anyone in the support group has any

experience

> and advice to offer, and could get in touch. Thanks, Laurel

>

[Guest guest]

Thanks for your question. My daughter is 10 and I also wonder what the

test is

to determine POF. My daughter is a twin. She is 6 inches smaller than her sister

(who does

not have BPES - nor do my two other children) and has not started any type of

female

development, whereas her sister has begun developing. I do not know if she is

Type 1 or

Type 2 BPES. Our geneticist said that since there is no family history of BPES

that Chromo

3 mutated for some reason. Is POF linked to whether BPEs is passed through

lineage or

mutated? Thanks to everyone-Ive only been on this web site for a few days and

it is very

informative.

Amy Barr

> >

> > hi everyone. Today we had the results of tests to do with my

> daughter's

> > lack of periods, and we have found that she has POF (premature

> ovarian

> > failure) linked probably to BPES type 1.She is being referred to a

> > geneticist. I wonder if anyone in the support group has any

> experience

> > and advice to offer, and could get in touch. Thanks, Laurel

> >

>

[Guest guest]

Janice,

My name is Nicki Venable and I am from Fort Wayne, Indiana. 

My daughter (age 14 months) has BPES not sure if it is I or II.  She is the

first in both our families.  She is currently being seen by Dr. Plager at Riley Hospital

in Indianapolis. 

She currently has temporary slings and will need to have another surgery at

approx age 2 or 3.  We are not sure if we need to see a geneticist.  I am unclear

as to why and what would happen.  Do you have any information?

Thanks,

Nicki

From:

blepharophimosis [mailto:blepharophimosis ] On Behalf Of Janice Eddy

Sent: Wednesday, September 12,

2007 1:15 PM

To:

blepharophimosis

Subject: Re: blepharophimosis

BPES 1

Hi, my name is Janice, I'm from Indiana,

USA.

I have BPES and so do my 2sisters and 1 of my brothers. My sisters very rarely

had periods, neither have children. I, on the hand, had periods from the time I

was 13. I thought I would be able to have children but by the time I was 20-21

I had started to skip periods. About 5 years after I was married we started

trying to have a baby. I was still having problems with my periods, skipping,

very light if at all. I went to Indianapolis,

to IU Med Center. The geneticist informed me that it was very likely I would

never get pregnant because of POF. He told me the best chance for me to

have gotten pregnant was when I was VERY young. 15-16. But you and your

daughter know early, so maybe they can start some kind of therapy or maybe

freeze her eggs now. I am so glad that you are looking into this at this time

in her life. Not being able to have a baby was one of the hardest things I have

ever had to go throu! gh. Also, my oldest sister is 59 and has just found out

she have osteoporosis, she never had periods so she never has

taken hormone replacement therapy. I'm sorry this is so long. If you have

any questions I am more than willing to answer them if I can. The more info we

give each other the better.

Hope to hear from you and good luck.

Janice

laurelandhester

<laurelandhester (DOT) co.uk> wrote:

hi everyone. Today we had

the results of tests to do with my daughter's

lack of periods, and we have found that she has POF (premature ovarian

failure) linked probably to BPES type 1.She is being referred to a

geneticist. I wonder if anyone in the support group has any experience

and advice to offer, and could get in touch. Thanks, Laurel

  

Boardwalk for $500? In 2007? Ha!

Play

Monopoly Here and Now (it's updated for today's economy) at Games.

[Guest guest]

Dear Janice, just a quick note on the slings, my son Aedan (5) had them done at 10 weeks of age. THe surgeon thought too that he would need them again at 2 or 3 yet there is still no need. See what's new at AOL.com and Make AOL Your Homepage.

[Guest guest]

Nicki, I think seeing a geneticist even at this young age is good idea. If I had a baby I would, just because I think the more info at any age may help later on, also there is a gene that they can test for that may help find out if she has Type 1 or 2. If you know early there may be things that can be done for her future. Also, I wanted to tell you there is a Dr Nunery at Midwest Eye Institute that is a wonderful surgeon. I also have 2 great nephews with BPES seeing Dr Nunery. He did my surgeries in 1988 and my sisters later. Sometimes with the surgeries it changes the direction of tiny eyelashes that can scratch the eyeball itself. I had a small piece of tissue removed last year from my lower eyelids and it has helped so much. I think the more we research this disorder and share info the better. The one thing that I have to tell you is this disorder is a real self-image issue. I wish I had known when I was young what I

had and could have been able to explain. Please feel free to email me any time Janice Nicki Venable <nicki.venable@...> wrote: Janice, My name is Nicki Venable and I am from Fort Wayne, Indiana. My daughter (age 14 months) has BPES not sure if it is I or II. She is the first in both our families. She is currently being seen by Dr. Plager at Riley Hospital in Indianapolis. She currently has temporary slings and will need to have another surgery at approx age 2 or 3. We are not sure if we need to see a geneticist. I am unclear as to why and what would happen. Do you have any information? Thanks, Nicki From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of Janice EddySent: Wednesday, September 12, 2007 1:15

PMblepharophimosis Subject: Re: blepharophimosis BPES 1 Hi, my name is Janice, I'm from Indiana, USA. I have BPES and so do my 2sisters and 1 of my brothers. My sisters very rarely had periods, neither have children. I, on the hand, had periods from the time I was 13. I thought I would be able to have children but by the time I was 20-21 I had started to skip periods. About 5 years after I was married we started trying to have a baby. I was still having problems with my periods, skipping, very light if at

all. I went to Indianapolis, to IU Med Center. The geneticist informed me that it was very likely I would never get pregnant because of POF. He told me the best chance for me to have gotten pregnant was when I was VERY young. 15-16. But you and your daughter know early, so maybe they can start some kind of therapy or maybe freeze her eggs now. I am so glad that you are looking into this at this time in her life. Not being able to have a baby was one of the hardest things I have ever had to go throu! gh. Also, my oldest sister is 59 and has just found out she have osteoporosis, she never had periods so she never has taken hormone replacement therapy. I'm sorry this is so long. If you have any questions I am more than willing to answer them if I can. The more info we give each other the better. Hope to hear from you

and good luck. Janicelaurelandhester <laurelandhester (DOT) co.uk> wrote: hi everyone. Today we had the results of tests to do with my daughter's lack of periods, and we have found that she has POF (premature ovarian failure) linked probably to BPES type 1.She is being referred to a geneticist. I wonder if anyone in the support group has any experience and advice to offer, and could get in touch. Thanks, Laurel Boardwalk for $500? In 2007? Ha! Play Monopoly Here and Now (it's updated for today's economy) at Games.

Be a better Heartthrob. Get better relationship answers from someone who knows. Answers - Check it out.

[Guest guest]

Thank you so much for this website!

I am so glad that there is so much information avalable.

Ileana

Port Washington, WI

-- In blepharophimosis , " Shireen Mohandes "

<shireen@...> wrote:

>

> It may be helpful for people to look here:

>

>

>

> http://www.geneclinics.org/servlet/access?db=geneclinics

> <http://www.geneclinics.org/servlet/access?

db=geneclinics & site=gt & id=8888891

>

& key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.ht

ml>

>

& site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/pro

files/

> bpes/index.html

>

>

>

> then take a look at:

>

> Evaluations at Initial Diagnosis to Establish the Extent of Disease

>

> and

>

>

>

> Therapies Under Investigation

>

>

>

> Regards

>

> Shireen Mohandes

>

> London, England

>

>

>

> From: blepharophimosis

> [mailto:blepharophimosis ] On Behalf Of barrsoccer

> Sent: 13 September 2007 01:23

> blepharophimosis

> Subject: blepharophimosis Re: BPES 1

>

>

>

> Thanks for your question. My daughter is 10 and I also

wonder what

> the test is

> to determine POF. My daughter is a twin. She is 6 inches smaller

than her

> sister (who does

> not have BPES - nor do my two other children) and has not started

any type

> of female

> development, whereas her sister has begun developing. I do not know

if she

> is Type 1 or

> Type 2 BPES. Our geneticist said that since there is no family

history of

> BPES that Chromo

> 3 mutated for some reason. Is POF linked to whether BPEs is passed

through

> lineage or

> mutated? Thanks to everyone-Ive only been on this web site for a

few days

> and it is very

> informative.

>

> Amy Barr

>

>

> > >

> > > hi everyone. Today we had the results of tests to do with my

> > daughter's

> > > lack of periods, and we have found that she has POF (premature

> > ovarian

> > > failure) linked probably to BPES type 1.She is being referred

to a

> > > geneticist. I wonder if anyone in the support group has any

> > experience

> > > and advice to offer, and could get in touch. Thanks, Laurel

> > >

> >

>