RE: Re: 4month old with bleph from Australia

[Guest guest]

Hi

I am sorry that I have only just got round to replying to your

post – I had intended on doing so before but time just ran away.

I don’t know much about the healthcare trust where you

live, but if you can get yourself referred to Moorfields Eye Hospital –

then you will be in very good hands. I know that there are many excellent

hospitals all over the UK, but Moorfields does seem to have built up quite a

reputation for taking care of people with BPES. Also, it is quite possible that

your consultant was trained at Moorfields – so maybe are you in good

hands right now.

The choice for surgery – that is a question very much for

each individual. Have a look here:

http://www.emedicine.com/ent/topic97.htm

For some people, there is an important need for urgent treatment

because vision could be impaired. For others, it seems that there is a choice

and that is up to the parents and their circumstances.

I am not medically trained, so it would be wrong of me to

suggest anything about treatment and diagnosis. However, I am very well read on

the subject and am in touch with 3 of the leading geneticists. I don’t

share the opinion of your geneticist. I think that you could benefit from

seeing Dr Oley who works in the UK – see here  http://www.internaf.org/groups/ukgenece.html

 

She is a lovely person and incredibly knowledgeable on the subject

of Type 1 vs Type 2. She was the person who diagnosed me, nearly 20 years ago.

I am hoping to organise a get-together in either Jan or Feb this

year, in London. Please watch the message board for details.

Take care

Shireen Mohandes

London, England

From: blepharophimosis

[mailto:blepharophimosis ] On Behalf Of

Sent: 16 October 2007 09:41

'blepharophimosis '

Subject: blepharophimosis Re: 4month old with bleph from Australia

Hello all,

I have recently found

out that I have BPES and so does my one year old son, . I noticed that he

couldn't open his eyes when he was born. I wasn't diagnosed before because my

symptoms were not as severe. I have been reading your messages for a while -

there are some really knowledgeable people out there. I have a couple of

questions:

Firstly to anyone

from England: We don't know for sure whether or not to opt for surgery for

. If he does can we choose our surgeon? Our current consultant is in the

north east (where we live) but has only performed this operation four times.

Are there more experienced surgeons in the south?

Secondly, to anyone

out there: I asked to be referred to a geneticist in order to find out more

about Type 1 and Type 2 and fertility issues. I am keen to have more children

myself and I would like more information for any girls I have. The geneticist

took blood but decided not to send it off to Belgium to be analysed because she

didn't think it would give my any useful information. One reason was because I

am the first in my family to have this condition so she said the mutation may

have happened after conception and not be present in all my cells (and

therefore my blood may not contain the mutated DNA) and secondly she said that

it may not give me any useful information anyway. Is this the story you have

all been given or can I find out more about mine and my children's fertility

from a DNA test?

I look forward to

meeting some of you if there is and England get together.

Best wishes

(Durham, England)