Re: Re: POF, Menopuase and Osteoporoses

March 23, 2008

During the upcoming week, my eighteen year old daughter with BPES and I will be meeting with an occuplastic surgeon for a consultation as well as with a genetic counselor-for the first time. She had upper lid corrective surgery before she was three years old and has had no additional eye surgery since then. She has worn glasses with bifocals since she was about 4 years old. We are approaching both of the appointments with our own agendas I am sure. The occuplastic appointment is to check on the original lid correction and to be sure that we have done what needs to be done to protect her vision. The appointment with the genetic counselor is more of the "unknown" type. There are many questions we hope to get answered regarding how BPES has and will affect

her life. We have already been working with a gynecologist and her regular eye doctor but need more answers regarding POF and the possibility that she will not be able to have children. The information that this group has provided for us for the past few months has encouraged us to move more assertively/aggressively to find more information and answers to our questions as we continue on. I am hopeful to have information and insight after these appointments to help support and to provide encouragement. Any insight or thoughts would be most appreciated. cberator <cbspam@...> wrote: Hi all, This is a post that I sent out a few months ago and willre-post as it seems pertinent for the recent posting:**Warning: this is a long email with a lot of medical information, soit's not a good one for very young readers. If you are younger than21 and you are reading this, please ask your parent to help you gothrough it.**I am so glad that the discussion has shifted to this topic again. Iam 32 and did not find out about my POF until last year. I have beenthrough 2 cycles of IVF that failed and now am doing egg donor. Itseems that we know a lot about what to do for girls whenthey are babies with this, but how to approach adulthood?I don't know about everyone else, but

because of my confidence issues,etc. around my BPES I tried not to think about it at all starting inadolescence. And my parents kind of thought of it as a "done issue".In fact, there are very important medical concerns that need to befollowed and addressed during adulthood. This is something I havethought about a lot and I have some initial thoughts. My advice (as aphysician and someone with POF) is the following for your daughters:1. Type 1 vs. Type 2: My geneticist told me that there is a lot ofvariability between types on the issue of POF. I think there is somereassurance to know that your daughter is Type 2, but I would not betotally reassured and I would not be devastated if they are Type 1.We have a very rare disease and though there is some knowledge, it isincomplete. I would recommend an appointment with a medicalgeneticist in your area at age 18-21 for all your daughters if you areable to swing it (both

regionally and financially) to check in and getinformation on their disease and what it means for them. I would dothis even if you saw a genetics doctor when they were younger. Yourdaughter also deserves to have her questions answered. The decisionto be tested is not an easy one. Once you know which type you have... what then?2. When to check FSH: There is no clear answer to this. It could benormal one year and then go up the next. Also, you can be in theearly stages of menopause and the value can be normal. I was on birthcontrol pills for 10 years, so my period was not a clue to theproblem. Also, you can't send an FSH once you are on contraceptionwith estrogen because it will impact the result. Again, if you havethe means and the access in your area, I would recommend making anappointment for your daughters with a reproductive endocrinologist.These are doctors who specialize in fertility and POF and they will

beable to tell you what to do. I would go to this doctor even if yourdaughter has a normal FSH. The point is to make a PLAN for how tofollow her risk for POF over time. You can also ask this doctor aboutoptions for freezing embryos (you need sperm for this, so they have tobe with a partner at the time). You should also ask them aboutwhether the FSH is the best indicator of fertility. My repro endo MDtold me that the antral follicle count (seen on ultrasound) is abetter indicator of fertility than FSH sometimes. Again, this dependson resources as well, but I think it's an important step.With that said, how often should you send the FSH? It depends on whyyou are sending it. If you are going to do something about it - likeyou might have a child earlier or you might freeze embryos, or youjust want to know ... then send it yearly with your physical. It's notan expensive test and insurance usually covers it. If your

daughteris not in the mind space to think about all that, then don't send it.This should be her decision, in consultation with her doctor,regarding the risks/benefits of the information.3. Bone Density: If you are a woman with BPES who already hasPOF....get your bone density tested. We are high risk forosteoporosis. I am 32 and thanks to my nerdy childhood of no sportsand poor diet in medical school (plus the POF!) I have osteoporosis inmy spine and my hips. I have had a fracture in my foot and my back inthe past 5 years. And now I am now on calcium supplements and anexercise plan. I can't take bone density medication until I havechildren (we don't know how it might impact pregnancy), but I willstart that once I done having children. You can ask the reproductiveendocrinologist about this as well. All girls with Type 1 BPES shouldbe taking a daily multivitamin and calcium supplement to prevent boneloss starting

in teenage years. You build your bone until age 26 andthen that's it. It's very important to talk to your daughter'spediatrician and your internist if you are older now about bone density.4. Repeat Surgeries: Your children may also have questions aboutrepeat eye surgery. When is this necessary? I have no idea. Oncethis IVF stuff is over for me I plan to make an appointment with anopthalmologist (even better an oculoplastics surgeon) to discussfuture surgeries. My sling is drooping and I have a lot of tearingproblems. I don't know what my options are, but I plan to find out.5. Menopause: Having POF is the same as menopause. I am takingestrogen patches and progesterone pills to induce a period and to helpout with my bones. You need to do Hormone Replacement Therapy toprotect your bones. And probably to prevent endometrial cancer, youshould have a period at least 3 times a year until the 'normal age' ofmenopause.

So if you have POF, you should be on birth control orestrogen/progesterone supplements. There is also the point made inthe post about menopausal symptoms. These medications will help withthat and they will also help with your sex drive, which decreases withmenopause as well.6. Letting your daughters take control: I cannot emphasize enoughthe importance of having your daughters see a therapist and/or geneticcounselor in addition to the genetics MD either. Decisions aroundparenthood, genetic testing, and surgeries are complex. Please talkto your doctors and demand to see a specialist if you can.7. What about the boys? I also think boys should see the geneticsdoctor and the opthalmologist in adulthood as well. It never hurts tocheck in and get your questions answered.I would be happy to answer any questions people have. This issomething that is very important to me ... to make sure adult girls(and

guys!) with BPES have accurate information for their health.Thanks!CarolynUSA>> Hi> > I am after some advice.> > I am 29 and have BPES. About 2 years ago I was trying for a second > child with no results so my GP began blood tests at various times in > my menstrual cycle then referred me to a fertility specialist who in > no uncertain terms told me to go away and get on with my life as it > wasn't going to happen as I had POF; he had no ideas what BPES was > barr the 5 minutes he had taken to read my notes prior to meeting > me! There was no option for any investigations or scans and I was > too distraught to question this.> > In the past couple of weeks I have begun to get a red hot face and

> neck for a few minutes and then it clears so I am going to book > another appointment as I fear an early onset menopause. My > Grandmother had terrible osteoporoses and my aunt on the same side > has terrible bone structure so I am terrified as I have low oestrogen > but my GP refuses a bone density scan as I am only 29.> > Anyway the point of this post is I am really interested to know of > other women's experiences as I feel somewhat despondent that my GP > and local hospital have no idea what they are dealing with and are > happy to treat me dare I say "normally" when they have no idea what > it is they are dealing with!> > Thanks> B xx>

Never miss a thing. Make your homepage.

March 24, 2008

Hi

May I recommend that you take a look at this link, and take

along a copy of it to your meeting.

http://www.geneclinics.org/servlet/access?db=geneclinics & site=gt & id=8888891 & key=yvyThuThGZXK5 & gry= & fcn=y & fw=suti & filename=/profiles/bpes/index.html

Regards

Shireen Mohandes

London, England

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of lisa mennes

Sent: 23 March 2008 01:35

blepharophimosis

Subject: Re: blepharophimosis Re: POF, Menopuase and Osteoporoses

During

the upcoming week, my eighteen year old daughter with BPES and I will be

meeting with an occuplastic surgeon for a consultation as well as with a

genetic counselor-for the first time.

She

had upper lid corrective surgery before she was three years old and has

had no additional eye surgery since then. She has worn glasses with bifocals

since she was about 4 years old. We are approaching both of the appointments

with our own agendas I am sure. The occuplastic appointment is to check on the

original lid correction and to be sure that we have done what needs to be done

to protect her vision. The appointment with the genetic counselor is more of

the " unknown " type. There are many questions we hope to get answered

regarding how BPES has and will affect her life. We have already been working

with a gynecologist and her regular eye doctor but need more answers regarding

POF and the possibility that she will not be able to have children.

The

information that this group has provided for us for the past few months has

encouraged us to move more assertively/aggressively to find more information

and answers to our questions as we continue on. I am hopeful to have

information and insight after these appointments to help support and to provide

encouragement.

Any

insight or thoughts would be most appreciated.

cberator <cbspam@...> wrote:

Hi all, This is a post that I

sent out a few months ago and will

re-post as it seems pertinent for the recent posting:

**Warning: this is a long email with a lot of medical information, so

it's not a good one for very young readers. If you are younger than

21 and you are reading this, please ask your parent to help you go

through it.**

I am so glad that the discussion has shifted to this topic again. I

am 32 and did not find out about my POF until last year. I have been

through 2 cycles of IVF that failed and now am doing egg donor. It

seems that we know a lot about what to do for girls when

they are babies with this, but how to approach adulthood?

I don't know about everyone else, but because of my confidence issues,

etc. around my BPES I tried not to think about it at all starting in

adolescence. And my parents kind of thought of it as a " done issue " .

In fact, there are very important medical concerns that need to be

followed and addressed during adulthood. This is something I have

thought about a lot and I have some initial thoughts. My advice (as a

physician and someone with POF) is the following for your daughters:

1. Type 1 vs. Type 2: My geneticist told me that there is a lot of

variability between types on the issue of POF. I think there is some

reassurance to know that your daughter is Type 2, but I would not be

totally reassured and I would not be devastated if they are Type 1.

We have a very rare disease and though there is some knowledge, it is

incomplete. I would recommend an appointment with a medical

geneticist in your area at age 18-21 for all your daughters if you are

able to swing it (both regionally and financially) to check in and get

information on their disease and what it means for them. I would do

this even if you saw a genetics doctor when they were younger. Your

daughter also deserves to have her questions answered. The decision

to be tested is not an easy one. Once you know which type you have

.... what then?

2. When to check FSH: There is no clear answer to this. It could be

normal one year and then go up the next. Also, you can be in the

early stages of menopause and the value can be normal. I was on birth

control pills for 10 years, so my period was not a clue to the

problem. Also, you can't send an FSH once you are on contraception

with estrogen because it will impact the result. Again, if you have

the means and the access in your area, I would recommend making an

appointment for your daughters with a reproductive endocrinologist.

These are doctors who specialize in fertility and POF and they will be

able to tell you what to do. I would go to this doctor even if your

daughter has a normal FSH. The point is to make a PLAN for how to

follow her risk for POF over time. You can also ask this doctor about

options for freezing embryos (you need sperm for this, so they have to

be with a partner at the time). You should also ask them about

whether the FSH is the best indicator of fertility. My repro endo MD

told me that the antral follicle count (seen on ultrasound) is a

better indicator of fertility than FSH sometimes. Again, this depends

on resources as well, but I think it's an important step.

With that said, how often should you send the FSH? It depends on why

you are sending it. If you are going to do something about it - like

you might have a child earlier or you might freeze embryos, or you

just want to know ... then send it yearly with your physical. It's not

an expensive test and insurance usually covers it. If your daughter

is not in the mind space to think about all that, then don't send it.

This should be her decision, in consultation with her doctor,

regarding the risks/benefits of the information.

3. Bone Density: If you are a woman with BPES who already has

POF....get your bone density tested. We are high risk for

osteoporosis. I am 32 and thanks to my nerdy childhood of no sports

and poor diet in medical school (plus the POF!) I have osteoporosis in

my spine and my hips. I have had a fracture in my foot and my back in

the past 5 years. And now I am now on calcium supplements and an

exercise plan. I can't take bone density medication until I have

children (we don't know how it might impact pregnancy), but I will

start that once I done having children. You can ask the reproductive

endocrinologist about this as well. All girls with Type 1 BPES should

be taking a daily multivitamin and calcium supplement to prevent bone

loss starting in teenage years. You build your bone until age 26 and

then that's it. It's very important to talk to your daughter's

pediatrician and your internist if you are older now about bone density.

4. Repeat Surgeries: Your children may also have questions about

repeat eye surgery. When is this necessary? I have no idea. Once

this IVF stuff is over for me I plan to make an appointment with an

opthalmologist (even better an oculoplastics surgeon) to discuss

future surgeries. My sling is drooping and I have a lot of tearing

problems. I don't know what my options are, but I plan to find out.

5. Menopause: Having POF is the same as menopause. I am taking

estrogen patches and progesterone pills to induce a period and to help

out with my bones. You need to do Hormone Replacement Therapy to

protect your bones. And probably to prevent endometrial cancer, you

should have a period at least 3 times a year until the 'normal age' of

menopause. So if you have POF, you should be on birth control or

estrogen/progesterone supplements. There is also the point made in

the post about menopausal symptoms. These medications will help with

that and they will also help with your sex drive, which decreases with

menopause as well.

6. Letting your daughters take control: I cannot emphasize enough

the importance of having your daughters see a therapist and/or genetic

counselor in addition to the genetics MD either. Decisions around

parenthood, genetic testing, and surgeries are complex. Please talk

to your doctors and demand to see a specialist if you can.

7. What about the boys? I also think boys should see the genetics

doctor and the opthalmologist in adulthood as well. It never hurts to

check in and get your questions answered.

I would be happy to answer any questions people have. This is

something that is very important to me ... to make sure adult girls

(and guys!) with BPES have accurate information for their health.

Thanks!

Carolyn

USA

>

> Hi

>

> I am after some advice.

>

> I am 29 and have BPES. About 2 years ago I was trying for a second

> child with no results so my GP began blood tests at various times in

> my menstrual cycle then referred me to a fertility specialist who in

> no uncertain terms told me to go away and get on with my life as it

> wasn't going to happen as I had POF; he had no ideas what BPES was

> barr the 5 minutes he had taken to read my notes prior to meeting

> me! There was no option for any investigations or scans and I was

> too distraught to question this.

>

> In the past couple of weeks I have begun to get a red hot face and

> neck for a few minutes and then it clears so I am going to book

> another appointment as I fear an early onset menopause. My

> Grandmother had terrible osteoporoses and my aunt on the same side

> has terrible bone structure so I am terrified as I have low oestrogen

> but my GP refuses a bone density scan as I am only 29.

>

> Anyway the point of this post is I am really interested to know of

> other women's experiences as I feel somewhat despondent that my GP

> and local hospital have no idea what they are dealing with and are

> happy to treat me dare I say " normally " when they have no idea

what

> it is they are dealing with!

>

> Thanks

> B xx

>

Never miss a thing. Make

your homepage.

March 28, 2008

HI Shireen,

I can't open the URL below, could you please send it to me again??

Thanks!

Re: blepharophimosis Re: POF, Menopuase and Osteoporoses

During the upcoming week, my eighteen year old daughter with BPES and I will be meeting with an occuplastic surgeon for a consultation as well as with a genetic counselor-for the first time.

She had upper lid corrective surgery before she was three years old and has had no additional eye surgery since then. She has worn glasses with bifocals since she was about 4 years old. We are approaching both of the appointments with our own agendas I am sure. The occuplastic appointment is to check on the original lid correction and to be sure that we have done what needs to be done to protect her vision. The appointment with the genetic counselor is more of the "unknown" type. There are many questions we hope to get answered regarding how BPES has and will affect her life. We have already been working with a gynecologist and her regular eye doctor but need more answers regarding POF and the possibility that she will not be able to have children.

The information that this group has provided for us for the past few months has encouraged us to move more assertively/ aggressively to find more information and answers to our questions as we continue on. I am hopeful to have information and insight after these appointments to help support and to provide encouragement.

Any insight or thoughts would be most appreciated.

cberator <cbspamdrbradner (DOT) com> wrote:

Hi all, This is a post that I sent out a few months ago and willre-post as it seems pertinent for the recent posting:**Warning: this is a long email with a lot of medical information, soit's not a good one for very young readers. If you are younger than21 and you are reading this, please ask your parent to help you gothrough it.**I am so glad that the discussion has shifted to this topic again. Iam 32 and did not find out about my POF until last year. I have beenthrough 2 cycles of IVF that failed and now am doing egg donor. Itseems that we know a lot about what to do for girls whenthey are babies with this, but how to approach adulthood?I don't know about everyone else, but because of my confidence issues,etc. around my BPES I tried not to think about it at all starting inadolescence. And my parents kind of thought of it as a "done issue".In fact, there are very

important medical concerns that need to befollowed and addressed during adulthood. This is something I havethought about a lot and I have some initial thoughts. My advice (as aphysician and someone with POF) is the following for your daughters:1. Type 1 vs. Type 2: My geneticist told me that there is a lot ofvariability between types on the issue of POF. I think there is somereassurance to know that your daughter is Type 2, but I would not betotally reassured and I would not be devastated if they are Type 1.We have a very rare disease and though there is some knowledge, it isincomplete. I would recommend an appointment with a medicalgeneticist in your area at age 18-21 for all your daughters if you areable to swing it (both regionally and financially) to check in and getinformation on their disease and what it means for them. I would dothis even if you saw a genetics doctor when they were younger.

Yourdaughter also deserves to have her questions answered. The decisionto be tested is not an easy one. Once you know which type you have... what then?2. When to check FSH: There is no clear answer to this. It could benormal one year and then go up the next. Also, you can be in theearly stages of menopause and the value can be normal. I was on birthcontrol pills for 10 years, so my period was not a clue to theproblem. Also, you can't send an FSH once you are on contraceptionwith estrogen because it will impact the result. Again, if you havethe means and the access in your area, I would recommend making anappointment for your daughters with a reproductive endocrinologist.These are doctors who specialize in fertility and POF and they will beable to tell you what to do. I would go to this doctor even if yourdaughter has a normal FSH. The point is to make a PLAN for how tofollow her risk for

POF over time. You can also ask this doctor aboutoptions for freezing embryos (you need sperm for this, so they have tobe with a partner at the time). You should also ask them aboutwhether the FSH is the best indicator of fertility. My repro endo MDtold me that the antral follicle count (seen on ultrasound) is abetter indicator of fertility than FSH sometimes. Again, this dependson resources as well, but I think it's an important step.With that said, how often should you send the FSH? It depends on whyyou are sending it. If you are going to do something about it - likeyou might have a child earlier or you might freeze embryos, or youjust want to know ... then send it yearly with your physical. It's notan expensive test and insurance usually covers it. If your daughteris not in the mind space to think about all that, then don't send it.This should be her decision, in consultation with her

doctor,regarding the risks/benefits of the information.3. Bone Density: If you are a woman with BPES who already hasPOF....get your bone density tested. We are high risk forosteoporosis. I am 32 and thanks to my nerdy childhood of no sportsand poor diet in medical school (plus the POF!) I have osteoporosis inmy spine and my hips. I have had a fracture in my foot and my back inthe past 5 years. And now I am now on calcium supplements and anexercise plan. I can't take bone density medication until I havechildren (we don't know how it might impact pregnancy), but I willstart that once I done having children. You can ask the reproductiveendocrinologist about this as well. All girls with Type 1 BPES shouldbe taking a daily multivitamin and calcium supplement to prevent boneloss starting in teenage years. You build your bone until age 26 andthen that's it. It's very important to talk to your

daughter'spediatrician and your internist if you are older now about bone density.4. Repeat Surgeries: Your children may also have questions aboutrepeat eye surgery. When is this necessary? I have no idea. Oncethis IVF stuff is over for me I plan to make an appointment with anopthalmologist (even better an oculoplastics surgeon) to discussfuture surgeries. My sling is drooping and I have a lot of tearingproblems. I don't know what my options are, but I plan to find out.5. Menopause: Having POF is the same as menopause. I am takingestrogen patches and progesterone pills to induce a period and to helpout with my bones. You need to do Hormone Replacement Therapy toprotect your bones. And probably to prevent endometrial cancer, youshould have a period at least 3 times a year until the 'normal age' ofmenopause. So if you have POF, you should be on birth control orestrogen/progestero ne

supplements. There is also the point made inthe post about menopausal symptoms. These medications will help withthat and they will also help with your sex drive, which decreases withmenopause as well.6. Letting your daughters take control: I cannot emphasize enoughthe importance of having your daughters see a therapist and/or geneticcounselor in addition to the genetics MD either. Decisions aroundparenthood, genetic testing, and surgeries are complex. Please talkto your doctors and demand to see a specialist if you can.7. What about the boys? I also think boys should see the geneticsdoctor and the opthalmologist in adulthood as well. It never hurts tocheck in and get your questions answered.I would be happy to answer any questions people have. This issomething that is very important to me ... to make sure adult girls(and guys!) with BPES have accurate information for their

health.Thanks!CarolynUSA>> Hi> > I am after some advice.> > I am 29 and have BPES. About 2 years ago I was trying for a second > child with no results so my GP began blood tests at various times in > my menstrual cycle then referred me to a fertility specialist who in > no uncertain terms told me to go away and get on with my life as it > wasn't going to happen as I had POF; he had no ideas what BPES was > barr the 5 minutes he had taken to read my notes prior to meeting > me! There was no option for any investigations or scans and I was > too distraught to question this.> > In the

past couple of weeks I have begun to get a red hot face and > neck for a few minutes and then it clears so I am going to book > another appointment as I fear an early onset menopause. My > Grandmother had terrible osteoporoses and my aunt on the same side > has terrible bone structure so I am terrified as I have low oestrogen > but my GP refuses a bone density scan as I am only 29.> > Anyway the point of this post is I am really interested to know of > other women's experiences as I feel somewhat despondent that my GP > and local hospital have no idea what they are dealing with and are > happy to treat me dare I say "normally" when they have no idea what > it is they are dealing with!> > Thanks> B xx>

Never miss a thing. Make your homepage.

Send instant messages to your online friends http://uk.messenger.

March 29, 2008

Hi

Try this instead:

In Google search for BPES

Then when you see the link for BPES Family Network, click on it.

Then on the home page click on the link in the large purple box.

That might be easier.

Regards

Shireen Mohandes

London, England

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of lisa obrien

Sent: 28 March 2008 11:52

blepharophimosis

Subject: Re: blepharophimosis Re: POF, Menopuase and Osteoporoses

HI Shireen,

I can't open

the URL below, could you please send it to me again??

Thanks!

Re: blepharophimosis Re: POF, Menopuase and Osteoporoses

During the upcoming week, my eighteen year

old daughter with BPES and I will be meeting with an occuplastic surgeon

for a consultation as well as with a genetic counselor-for the first time.

She had upper lid corrective surgery before she

was three years old and has had no additional eye surgery since then. She has

worn glasses with bifocals since she was about 4 years old. We are approaching

both of the appointments with our own agendas I am sure. The occuplastic

appointment is to check on the original lid correction and to be sure that we

have done what needs to be done to protect her vision. The appointment with the

genetic counselor is more of the " unknown " type. There are many

questions we hope to get answered regarding how BPES has and will affect her

life. We have already been working with a gynecologist and her regular eye

doctor but need more answers regarding POF and the possibility that she will

not be able to have children.

The information that this group has provided for us

for the past few months has encouraged us to move more assertively/

aggressively to find more information and answers to our questions as we

continue on. I am hopeful to have information and insight after these

appointments to help support and to provide encouragement.

Any insight or thoughts would be most appreciated.

cberator <cbspamdrbradner (DOT) com> wrote:

Hi

all, This is a post that I sent out a few months ago and will