RE: Re: BPES and OHDO

[Guest guest]

Dear Lise

I am not medically trained in any way, so please read this as an ordinary person's words.

From what I have read, and from what I know, it is possible to have BPES and also have some other health issues.

Getting a diagnosis from a geneticist or paediatrician is the best way forward for anyone who is in doubt.

However, it may help you to look here:

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

you may like to look at: Table 2. Overview of Conditions in which Ptosis and/or Blepharophimosis are Prominent Features

I am not recommending that you try to use this to diagnose Sylvester. Instead, I am hoping that when you see this article you will understand more about BPES, and other syndromes. I recognise that most of the words used are technical and new to many of us. But think of it this way, you could try to work out what it means, and if you don't understand you can ask your doctor to explain it to you.

The authors of this article have been involved in advising and diagnosing hundreds of people with BPES (and related) syndromes. They are in a good position to write such articles.

I hope that you find this information useful.

You may like to look here to find out about the surgical aspects of BPES:

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

Today must have been quite a day for you, to see three doctors and still not have the answers you want.

Good luck, and take care.

Shireen Mohandes

London, England

From: blepharophimosis [mailto:blepharophimosis ] On Behalf Of sylvester2603Sent: 11 December 2006 14:43blepharophimosis Subject: blepharophimosis Re: BPES and OHDO

Hi,my son Sylvester is now almost 9 month and we still do not have the restults of his tests, but everybody thinks he has BPES. so did we, untill a few weeks ago. we now think he might have OHDO, but we are not sure. he have a low muscle tone, and some of the other problems (no heart condition), but can you maybe help us explaining some of the symptoms?! we have been to 3 different doctors today and his sight is really pore, it is reduced to about 25 % of what is normal for a kid of his age. but he is a happy beatifull boy and we just love him the way he is, but I cant help thinking about it all the time. thanks for reading my mail. Lise from Denmark.