BPES and Genetics Questions

[Guest guest]

Hi everyone,

I've been reading the posts about BPES being passed through parents'

genes, and I come from a family where absolutely nobody has it, not my

parents or aunts or uncles or grandparents. Is it more common to get

BPES from your parents or just randomly? I know when my mother was

researching this many years ago, it came up that it's impossible to

have a child with BPES if neither parent has it, but obviously it's

not true because I exist. Is there anyone else with BPES who has no

family members with the disorder?

Also, I was wondering about POF. I'm only 23 and the prospect of

having POF and early menopause is terrifying to me. What are the

statistics when it comes to who gets POF and who doesn't? Personally,

having children has never been of great interest to me (partially

because I really don't want to pass BPES on - it's been a horrible

thing in my life) so I never thought about it, but after reading these

posts about POF, I realize that I might never have the option of

having kids. I was trying to find out how to get tested for it, and I

read that you can get blood tests, but will it show up that I will

have POF in the future if I'm not being affected by it now? I'm just

curious if anyone knows. I tried to do some research on my own but it

was all kind of confusing, and upsetting.

I know I don't post often at all in this forum, but I do read the

posts every day. I posted a while back when I joined the site because

I was trying to find a doctor who could help me. Somebody directed me

to Boston Children's Hospital, to Dr. , and I was referred by

him to a Dr. Elliot. While the visit didn't produce any amazing

solutions to my many problems, Dr. Elliot was absolutely wonderful. I

was hoping that I could have surgeries to help with my eye infections

and the daily problems I experience from BPES, but the most she could

do was reverse the surgeries I've had, which would leave me with

nearly closed eyes and skin grafts from a cadaver. I ended up in her

office crying for what seemed like forever, but she didn't rush me out

or anything. She did everything she could to really help me find ways

to keep the pain and the other symptoms down, so I wanted to let

everyone out there know how wonderful she is. I saw her at the Boston

Children's Hospital at Waltham, if anyone is interested. I think it's

important to have a truly caring and compassionate doctor when it

comes to dealing with this disease.

Anyhow, I'll finish up for now. If anyone has answers to any of my

questions, it would be great to hear from you, and thank you all for

all the information you post.

Sydney

Upstate NY, USA