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Andy Bowles & Shireen Mohandes wrote:

>

> If I had to make a guess - I would say that for every 200,000 people, there

> is one person with BPES.

> ============================================================================

> ========================

> So, that makes it about 1,500 people in the USA.

>

> About 100 people in Australia - what do you think of this estimate Rob?

I'm not sure that we'd ever be able to validate it, but it seems

reasonable, especially when we factor in the data from other BPES/BPEI

fora. Some of these numbers on their own are way too low to be

statistically significant, but they look a lot better in toto or when

added to others. But it does feel about a hundred-ish, I guess.

I won't bother looking in any of my dodgy journal articles to see if

they give any figures, in view of their clearly strange 100/96.5%

'penetrance' and dubious Type vs child gender claims.

> I am very interested to hear what people think about my estimate, or should

> I say " guess " .

Through a stunning combination of wild speculation and outrageous

bluffing, you've got me convinced. I'll buy a dozen.

Rob

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We live in Bahrain and as yet have been told of only one child having this condition. With a population of 700,000 in this country, I guess 1 in 200,000 seems about right.

Whilst visiting India in April/May, and in a long temple queue, saw a girl of around 12 years old with untreated problem - definitely poor. Heart went out to her as we would have loved to help but could not see her again (other side of a steel barrier).

Talked to Genetic doctors in the largest eye hospital in India. Whilst such cases are being treated (operated), there is no research going on in the country. Unimaginable for such a large country, though I read a paper by one genetist that he has studied a family of 30 people in one village in India and more than 75% had this problem in various degrees.

With a population of 1.2 billion and with the theory that 1 in 200,000 could have it, I calculate a figure of 6,000 persons with this condition. Except for our daughter Anushka and the girl we saw and the story of the family, we have seen/heard of no other case though the surgeon we met mentioned that he does operate on a few cases per year.

We are off to London to visit Mr Collin in August to seek his opinion. At present, the Indian hospital mentioned that Anushka needs an operation after she crosses 3 years. If so, the wait is for 2 more years!!

Kind regards

lata & deepakRob <rawatson@...> wrote:

Andy Bowles & Shireen Mohandes wrote:> > If I had to make a guess - I would say that for every 200,000 people, there> is one person with BPES.> ============================================================================> ========================> So, that makes it about 1,500 people in the USA.> > About 100 people in Australia - what do you think of this estimate Rob?I'm not sure that we'd ever be able to validate it, but it seems reasonable, especially when we factor in the data from other BPES/BPEI fora. Some of these numbers on their own are way too low to be statistically significant, but they look a lot better in toto or when added to others. But it does feel about a hundred-ish, I guess.I won't bother looking in any of my dodgy journal articles to see if they give any figures, in

view of their clearly strange 100/96.5% 'penetrance' and dubious Type vs child gender claims.> I am very interested to hear what people think about my estimate, or should> I say "guess".Through a stunning combination of wild speculation and outrageous bluffing, you've got me convinced. I'll buy a dozen.Rob

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Hi lata and deepak

Good luck with your trip to Mr Collin, he is an excellent doctor and a very professional one too. I don't live very far from where he works, and if you like, I would be happy to meet with you for a coffee.

Don't forget to take a notebook to write down what he says. It is all to easy to to be overwhelmed by the amount of information.

Shireen

-----Original Message-----From: Deepak Kamath [mailto:deepak953@...]Sent: 10 July 2004 07:50blepharophimosis Subject: Re: blepharophimosis Some stats

We live in Bahrain and as yet have been told of only one child having this condition. With a population of 700,000 in this country, I guess 1 in 200,000 seems about right.

Whilst visiting India in April/May, and in a long temple queue, saw a girl of around 12 years old with untreated problem - definitely poor. Heart went out to her as we would have loved to help but could not see her again (other side of a steel barrier).

Talked to Genetic doctors in the largest eye hospital in India. Whilst such cases are being treated (operated), there is no research going on in the country. Unimaginable for such a large country, though I read a paper by one genetist that he has studied a family of 30 people in one village in India and more than 75% had this problem in various degrees.

With a population of 1.2 billion and with the theory that 1 in 200,000 could have it, I calculate a figure of 6,000 persons with this condition. Except for our daughter Anushka and the girl we saw and the story of the family, we have seen/heard of no other case though the surgeon we met mentioned that he does operate on a few cases per year.

We are off to London to visit Mr Collin in August to seek his opinion. At present, the Indian hospital mentioned that Anushka needs an operation after she crosses 3 years. If so, the wait is for 2 more years!!

Kind regards

lata & deepakRob <rawatson@...> wrote:

Andy Bowles & Shireen Mohandes wrote:> > If I had to make a guess - I would say that for every 200,000 people, there> is one person with BPES.> ============================================================================> ========================> So, that makes it about 1,500 people in the USA.> > About 100 people in Australia - what do you think of this estimate Rob?I'm not sure that we'd ever be able to validate it, but it seems reasonable, especially when we factor in the data from other BPES/BPEI fora. Some of these numbers on their own are way too low to be statistically significant, but they look a lot better in toto or when added to others. But it does feel about a hundred-ish, I guess.I won't bother looking in any of my dodgy journal articles to see if they give any figures, in view of their clearly strange 100/96.5% 'penetrance' and dubious Type vs child gender claims.> I am very interested to hear what people think about my estimate, or should> I say "guess".Through a stunning combination of wild speculation and outrageous bluffing, you've got me convinced. I'll buy a dozen.Rob

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