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Hi ....Leanne in CHCH here, I was wondering how many people just in New-Zealand there are with blephs?....So far your wee Alyssa, our Ethan, and Maree and her daughter, We went to ethan's 1 year old check-up with the opthalmologist 2 days ago, and he mentioned doing surgery on a whole family in dunedin!....Be interesting to know how many there actaully are ha!....Hows Alyssa doing?

-- blepharophimosis %

Welcome to the group to the new members.

I was wondering if anyone knew the percentage of how many are affected with BPES? Also if it affect's any particular race more than another etc etc. Or is there a site where I can get this sort of information? I know it was discussed last year regarding starting a database of information but I don't recall the outcome?

Thanks,

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Hi All

I have created a database in this group.

If you would like to enter information in the database, do this:

1. click here: blepharophimosis/

2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".

3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on blepharophimosis

4. Now click on "Database", this is in the left of the screen, just a little below "Photos"

5. Click on "BPES List"

6. Now click on "Add Record"

FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4

Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.

Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.

So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.

From time to time I will do some stats, and try and work out how many people in the world have BPES. I will be in touch with some genetics people to help me,because the availability of the Internet to many third world countries is still quite low, so we may not fully understand the geographic spread.

Shireen

-----Original Message-----From: bobjnr [mailto:bobjnr@...]Sent: 03 February 2095 23:02blepharophimosis Subject: blepharophimosis %

Welcome to the group to the new members.

I was wondering if anyone knew the percentage of how many are affected with BPES? Also if it affect's any particular race more than another etc etc. Or is there a site where I can get this sort of information? I know it was discussed last year regarding starting a database of information but I don't recall the outcome?

Thanks,

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Sorry - I meant to add...

If you are a parent of a child with BPES, then add one entry for your child, as if they were entering the information for themselves.

If there are problems with this type of database, then I can change it or add to it.

Please speak out - all comments welcom.

Shireen

-----Original Message-----From: andy.bowles@... [mailto:andy.bowles@...]Sent: 04 February 2004 09:55blepharophimosis Subject: RE: blepharophimosis %

Hi All

I have created a database in this group.

If you would like to enter information in the database, do this:

1. click here: blepharophimosis/

2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".

3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on blepharophimosis

4. Now click on "Database", this is in the left of the screen, just a little below "Photos"

5. Click on "BPES List"

6. Now click on "Add Record"

FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4

Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.

Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.

So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.

From time to time I will do some stats, and try and work out how many people in the world have BPES. I will be in touch with some genetics people to help me,because the availability of the Internet to many third world countries is still quite low, so we may not fully understand the geographic spread.

Shireen

-----Original Message-----From: bobjnr [mailto:bobjnr@...]Sent: 03 February 2095 23:02blepharophimosis Subject: blepharophimosis %

Welcome to the group to the new members.

I was wondering if anyone knew the percentage of how many are affected with BPES? Also if it affect's any particular race more than another etc etc. Or is there a site where I can get this sort of information? I know it was discussed last year regarding starting a database of information but I don't recall the outcome?

Thanks,

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bobjnr wrote:

> Welcome to the group to the new members.

> I was wondering if anyone knew the percentage of how many are affected

> with BPES? Also if it affect's any particular race more than another etc

> etc.

According to one paper I've read:

" The rarity of this syndrome and the wide dispersal of affected

individuals, both in time and space, has allowed no single surgeon a

wide experience of the condition " . You might also be interested in

another section: " This condition is recorded in one family through five

generations... The other members of this family were widely dispersed

throughout the English-speaking world, many living in New Zealand... "

It seems that it is too rare to put a percentage on, and also too rare

to draw any conclusions about whether any groups are affected more than

any other. But if in doubt, blame New Zealand ;-)

Rob

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Rob

WOW 5 generations interesting.

Rob <rawatson@...> wrote: bobjnr wrote:> Welcome to the group to the new members. > I was wondering if anyone knew the percentage of how many are affected > with BPES? Also if it affect's any particular race more than another etc > etc.According to one paper I've read:"The rarity of this syndrome and the wide dispersal of affected individuals, both in time and space, has allowed no single surgeon a wide experience of the condition". You might also be interested in another section: "This condition is recorded in one family through five generations... The other members of this family were widely dispersed throughout the English-speaking world, many living in New Zealand..."It seems that it is too rare to put a percentage on, and also too rare to draw any conclusions about whether any groups are affected more than any other.

But if in doubt, blame New Zealand ;-)Rob

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Shireen

This is a very positive step forward this data base.

Personally I am giving deep thought as to weather I wish to post my records in it.

Now that the opportunity is here. I will honestly say I have mixed emotions, but support you 1000% on this.

son USA

andy.bowles@... wrote:

Hi All

I have created a database in this group.

If you would like to enter information in the database, do this:

1. click here: blepharophimosis/

2. then click on "Sign In" - it is in the top left corner of the screen. If you are a new user, you will have to click on "Sign Up".

3. After you have signed in, you will see "My Groups" on the left of the screen, and "blepharophimosis" under it. Click on blepharophimosis

4. Now click on "Database", this is in the left of the screen, just a little below "Photos"

5. Click on "BPES List"

6. Now click on "Add Record"

FOR THOSE WHO ALREADY KNOW HOW TO SEE THE PHOTOS - start from step 4

Please note that you do not have to put all the info in. For example, if you prefer to just enter the country you live in, then that is OK. I only wanted to put in my first name, so that is what I have done.

Anyone can add records. But only I can alter them. This is some measure of making sure that somebody does not accidentlaly alter another person's entry.

So if you make a mistake, simply put the information in a second time and write me a note asking me to delete the first one.

From time to time I will do some stats, and try and work out how many people in the world have BPES. I will be in touch with some genetics people to help me,because the availability of the Internet to many third world countries is still quite low, so we may not fully understand the geographic spread.

Shireen

-----Original Message-----From: bobjnr [mailto:bobjnr@...]Sent: 03 February 2095 23:02blepharophimosis Subject: blepharophimosis %

Welcome to the group to the new members.

I was wondering if anyone knew the percentage of how many are affected with BPES? Also if it affect's any particular race more than another etc etc. Or is there a site where I can get this sort of information? I know it was discussed last year regarding starting a database of information but I don't recall the outcome?

Thanks,

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Hmmmm, very funny, kiwi's not appreciating that comment Rob:)

-- Re: blepharophimosis %

bobjnr wrote:> Welcome to the group to the new members. > I was wondering if anyone knew the percentage of how many are affected > with BPES? Also if it affect's any particular race more than another etc > etc.According to one paper I've read:"The rarity of this syndrome and the wide dispersal of affected individuals, both in time and space, has allowed no single surgeon a wide experience of the condition". You might also be interested in another section: "This condition is recorded in one family through five generations... The other members of this family were widely dispersed throughout the English-speaking world, many living in New Zealand..."It seems that it is too rare to put a percentage on, and also too rare to draw any conclusions about whether any groups are affected more than any other. But if in doubt, blame New Zealand ;-)Rob

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Please don´t send e-mails with blue background they are really very

difficult to read

>From: leelee <tltne@...>

>Reply-blepharophimosis

>blepharophimosis

>Subject: Re: blepharophimosis %

>Date: Thu, 05 Feb 2004 10:53:00 +1300 (New Zealand Standard Time)

>

>Hmmmm, very funny, kiwi's not appreciating that comment Rob:)

>

>-- Re: blepharophimosis %

>

>

>

>bobjnr wrote:

> > Welcome to the group to the new members.

> > I was wondering if anyone knew the percentage of how many are affected

> > with BPES? Also if it affect's any particular race more than another etc

> > etc.

>

>According to one paper I've read:

> " The rarity of this syndrome and the wide dispersal of affected

>individuals, both in time and space, has allowed no single surgeon a

>wide experience of the condition " . You might also be interested in

>another section: " This condition is recorded in one family through five

>generations... The other members of this family were widely dispersed

>throughout the English-speaking world, many living in New Zealand... "

>

>It seems that it is too rare to put a percentage on, and also too rare

>to draw any conclusions about whether any groups are affected more than

>any other. But if in doubt, blame New Zealand ;-)

>

>Rob

>

>

>

>

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& Leeane - Maree in Waihi Beach here. Hey, I never know where

to start typing on these `reply` messages! Hope its in the right

place....... Theres also a 5yr old boy & his dad here at the beach

with bleph. I have also heard of the Dunedin family, & I`m sure there

are heaps more (I`ve never seen them tho`)

- do you know of an ophthalmologist in Akl called

? Apparently has an interest in eye problem genetics at Akl

Hospital. s surgeon in Rotorua has written to her ( V)

to enquire about the blood tests re potential infertility & bleph. My

doc also is going to get me some contact at the Genetic Counselling

Services in Akl. Have u heard of them?

I`m blown away by all these new members coming on with the same

stories.......My husband thinks I`ve lost the plot staying on this

thing till 2 or 3 a.m. reading messages but it feels like i`ve found

a new `family`! Anybody else feel like that?

Thanks to all of you & remember we`re all special. As far as surgeons

trying to make our & our childrens eyes normal - well, I say, whats

`normal` anyway? Aren`t we all created `unique`? Definitely go with

surgery tho to improve a childs vision by all means. each case is so

very different as well. Getting a second opinion, if possible , is a

great idea.

Bye for now

Maree--- In blepharophimosis , leelee <tltne@c...>

wrote:

> Hi ....Leanne in CHCH here, I was wondering how many people

just in

> New-Zealand there are with blephs?....So far your wee Alyssa, our

Ethan, and

> Maree and her daughter, We went to ethan's 1 year old check-up with

the

> opthalmologist 2 days ago, and he mentioned doing surgery on a

whole family

> in dunedin!....Be interesting to know how many there actaully are

ha!...

> Hows Alyssa doing?

>

> -- blepharophimosis %

>

> Welcome to the group to the new members.

> I was wondering if anyone knew the percentage of how many are

affected with

> BPES? Also if it affect's any particular race more than another etc

etc. Or

> is there a site where I can get this sort of information? I know it

was

> discussed last year regarding starting a database of information

but I don't

> recall the outcome?

> Thanks,

>

>

>

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So sorry, didn't realise...Havn't had any complaints before, is this better for you.

-- Re: blepharophimosis %>>>>bobjnr wrote:> > Welcome to the group to the new members.> > I was wondering if anyone knew the percentage of how many are affected> > with BPES? Also if it affect's any particular race more than another etc> > etc.>>According to one paper I've read:>"The rarity of this syndrome and the wide dispersal of affected>individuals, both in time and space, has allowed no single surgeon a>wide experience of the condition". You might also be interested in>another section: "This condition is recorded in one family through five>generations... The other members of this family were widely dispersed>throughout the English-speaking world, many living in New Zealand...">>It seems that it is too rare to put a percentage on, and also too rare>to draw any conclusions about whether any groups are affected more than>any other. But if in doubt, blame New Zealand ;-)>>Rob>>>>

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Hi Maree...leanne here...got your message fine:)....Have you actually met the boy and his father there?...Or been told about them...how exciting if you can meet them!....May-be one day we can all get together, we should let each other know when we might travel to either Christchurch, Auckland or waihi!...

With the 2nd opinion, I don't think there is any-one here in Christchurch except who we see now that we could get another opinion with!...I remember when Ethan was a baby I asked, and our family Dr said that *Dr Weatherhead* was the only opthalmologist for knowing about blephs...We definately won't a 2nd opinion though, so if we have to travel out of ChCh we will!...Take care, talk soon...

Kia-Ora...Leanne and family:)

-- blepharophimosis %> > Welcome to the group to the new members. > I was wondering if anyone knew the percentage of how many are affected with> BPES? Also if it affect's any particular race more than another etc etc. Or> is there a site where I can get this sort of information? I know it was> discussed last year regarding starting a database of information but I don't> recall the outcome?> Thanks, > > >

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  • 1 year later...

Veri

Oh how I feel for you. I too had those kind of mornings in the beginning.

I'm kinda new to this also. I learn something new most days reading others'

posts.

and I went through what seems like the same merry-go-round in the

morning.

My other daughter and I would be ready and there was still eating

breakfast. She'd hadn't gotten anything else like teeth, face and hair done yet

and we'd be late by the time she was done.

I've learned to get her up a little earlier which meant she has to go to bed

earlier. I don't know if it's the disease or just her but if she doesn't get

enough sleep she is unbelievably and sometimes almost unbearably emotional. If

you look at her the wrong way she sets off crying.

She does some basic stretches before she even gets out of her bed then if

she's still stiff she takes a hot shower.

It also helps me to make sure I do as much as I can the night before like

getting lunches made and getting clothes picked out which is another ordeal.

is tactile sensitive. All of her clothes have to be stretched out

before she will wear them because she can't tolerate anything tight on her. She

can't wear anything but cotton fabric.

I felt like an awful parent sometimes getting upset with her and even worse

when I yelled at her.

I'm sure more experienced parents will have much better advice for you.

Finding this web site has been a blessing.

Much luck to you for less stressful mornings.

and (9 poly)

I have been reading your letters now for several days and realize that

I know nothing basically about JRA. When we went to the specialist the

first time she said, yes she was sure had an inflamitory

arthritis of some sort. Then after the second trip I knew she had JRA

because that was the diagnosis on the prescription she wrote for her.

I just thought that was the kind. I do think I am learning alot just

reading your notes and know that we have only just begun. Are there

many different kinds of JRA?

My daughter seems to have a tough time getting out of bed every day.

She is exhausted most of the time and complains about just not feeling

good. It is so hard to make her get up in the mornings for school. I

have been wondering if she is just being lazy and " milking it " or if

she is really feeling bad. How do I know?? How can I get her to get

up with out yelling at her? I do not like starting the day off that

way? Our morning starts off rough each day now and then I drop her at

school in a not very good mood and I go to work and cry.

Veri &

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