Re: message for Karolin

[Guest guest]

Hi Karolin welcome to this excellent site. like you it certainly would have been fab to have a site like this growing up.

Im Clare from Hertfordshire UK, I have 2 children Emy 9 who has BPES and Sam 7 who doesnt. I am the first person in my family to have BPES, neither any relation that I know has it. I received genetic counselling when i was pregnant at Great Ormand Street Children hosp. The Dr said that my gene was a complete one off, (a sporodic case - think thats how you spell it) and wasnt passed to me by anyone.

When I was pregnant I was told that there was a 50/50 chance of me passing it to my baby, which I did (she is my girl) , then when I was pregnant with my son again there was a 50/50 chance of me passing it to my baby, which I didnt he is my son. My daughter can pass on (again 50/50 chance with each pregnancy) BPES, but as my son doesnt have it he cannot pass it on (the only way his children could have it would be a sporodic case again).

Would really like to chat more, if you want to.

Clare

Hertfordshire UKkarolin_demircian <karolin_demircian@...> wrote:

Hi, my name is Karolin and Iam 29 years BPESold. I was born with tbe Blepharophimosis Syndrome. All my life I have been told how rare this condition is and have never in all my doctors consultations and surgeory come across anyone with this condition until a couple ofdays ago. That is when I came across the website full of people with this condition. Growing up this website would have really come in handy.Anyhow... what I would like to know is that is there anyone who has this condition but neither parent or any relative known has the same condition. I am constantly told I am not adopted but still cannot understand where I got this gene from and now have passed it on to my two children. I really would like to chat to anyone that can help me.

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