Re: BPES 1, criteria for POF

[Guest guest]

Hello Amy

Welcome to the group. I have a 5 yr old daughter, Kirsten, who is

the first and only person in our family with BPES. She has Type 1

and I was advised by the genetisist that she should see an

endocrinologist when she is about 14 to assess ovarian function.

The criteria for POF as far as I understand are 1) Cessation of

periods for more than 6 months at less than 40 yrs old. 2) A high

level of FSH (more than 40 U/L).

FSH is a hormone which stimulates the ovaries to produce eggs. If

the ovary is not working and the woman is not ovulating, then more

FSH is released. So a high level of FSH suggests ovarian failure.

Doing a FSH level at about 14 yrs will provide a starting point to

compare any other tests done after that.

I am not looking forward to having to tell my daughter all this when

she is a teenager, but in this case I don't believe that ignorance

is bliss. I just has to be as sensitive and supportive as I can.

Oh, by the way everyone, Kirsten had her final lid lift at

Moorfields in August using fascia from her leg. She was running

around as normal the next day and she looks fantastic. Will post

some photos soon.

Take care

Parsons

Colchester, UK

> > >

> > > 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]

Hi Everyone,

I just wanted to give you all the update our genetcist gave us when we took to see him at 11 months old. He took samples of her blood and sent them off to a lab in Brussels to get the results. When he called us back in to give us the results, he advised us that he doesn't agree there is a type I or type II which I found interesting! He said there is either partial or full deletion of the FOXL2 gene and its the state of the gene that determines the level of BPES. In 's case, her results showed full FOXL2 gene deletion, which I believe is not that common in BPES cases, it is more common to have partial deletion. He advised us that POF is more associated with partial deletion and that full infertility with total deletion, which means no periods and no egg production.

We need to obviously look into this more when reaches puberty and see what will happen, as I am sure you can all imagine, I find it very hard to believe that 15 years down the line, there won't be new thereapies available to deal with this, so we have to wait, hope and pray something will be there to help our daughter when the time arrives.

As difficult as it was to get the tests done, I think it's better to know, and to try to keep watch out on upcoming therapies and procedures for 's future. We travelled to London in August to see Mr Collin who will perform the rest of 's surgeries, as she currently has silicone slings since she was 6mths old, which we were delighted with the results of. Mr Collin advised she'll need Canthoplasty surgery to widen the eye at 3 1/2 and a permanent lift using the leg tissue 6 months later. It would have been great if we could have seen someone in Ireland, but we are grateful to have such a well respected and experienced surgeon just across the water!

Our geneticist is a very well respected doctor that heads up a section of a european genetic centre, and he diagnosed the moment he seen her - after months of taking her to various GPs, Paedatricians & even eye specialists!!! As we don't know of anyone else in Ireland with BPES, it took us a while to find anyone that knew anything about the condition. We were just so lucky our geneticist has worked all around the world, and was familiar with this syndrome.

I'd be really interested if anyone else has had similar meetings with their geneticists or doctors.

Best regards,

Kildare, Ireland

blepharophimosis Re: BPES 1, criteria for POF

Hello AmyWelcome to the group. I have a 5 yr old daughter, Kirsten, who is the first and only person in our family with BPES. She has Type 1 and I was advised by the genetisist that she should see an endocrinologist when she is about 14 to assess ovarian function. The criteria for POF as far as I understand are 1) Cessation of periods for more than 6 months at less than 40 yrs old. 2) A high level of FSH (more than 40 U/L).FSH is a hormone which stimulates the ovaries to produce eggs. If the ovary is not working and the woman is not ovulating, then more FSH is released. So a high level of FSH suggests ovarian failure. Doing a FSH level at about 14 yrs will provide a starting point to compare any other tests done after that.I am not looking forward to having to tell my daughter all this when she is a teenager, but in this case I don't believe that ignorance is bliss. I just has

to be as sensitive and supportive as I can.Oh, by the way everyone, Kirsten had her final lid lift at Moorfields in August using fascia from her leg. She was running around as normal the next day and she looks fantastic. Will post some photos soon.Take care ParsonsColchester, UK> > >> > > 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> > >> >>

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[Guest guest]

First I want to say thank you for sharing this. And second I want to

say I agree with you so much about the potential treatments for any

future fertility issues. There is so much interest and research in

the area of infertility, it affects so many people. You have such a

good attitude. has a great mom!

Also, the geneticist I saw didn't come out and say he didn't believe

in type 1 and 2, but he never spoke of it. I asked him directly about

type 1 or 2 and he only referred to a person having either a gene

deletion or a gene mutation, much like the doctor you spoke to.

Beth age 36 and Lily age 3 in Virginia, USA

> > > >

> > > > 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

> > > >

> > >

> >

>

>

>

>

> Send instant messages to your online friends

http://uk.messenger.

>

[Guest guest]

Thanks Beth! Appreciate your reply and support.. I suppose it's only to be expected that different doctors tell people different things when BPES is not all that common... Many doctors have never even heard of it. Thank God for this group, I'd be lost without it!

Isin't 3 a facinating age! We are just getting ready for heather to start taking off! She is 16 months and full of adventure! I remember when my son was 3 - we just spent our whole time running after him!! And I expect will be the same as was - a crazy toddler!

Take care & thanks again!

Kildare, Ireland

blepharophimosis Re: BPES 1, criteria for POF

First I want to say thank you for sharing this. And second I want to say I agree with you so much about the potential treatments for any future fertility issues. There is so much interest and research in the area of infertility, it affects so many people. You have such a good attitude. has a great mom!Also, the geneticist I saw didn't come out and say he didn't believe in type 1 and 2, but he never spoke of it. I asked him directly about type 1 or 2 and he only referred to a person having either a gene deletion or a gene mutation, much like the doctor you spoke to. Beth age 36 and Lily age 3 in Virginia, USA> > > >> > > > 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> > > >> > >> >> > > > > Send instant messages to your online friends http://uk.messenger .>

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