Re: Introduction from Shena and Evie

[Guest guest]

Hello everyone

Just like to introduce myself and ask for some info if anyone has it.

My name is Shena and I live in Derby in the UK. My daughter has BPES - she was 8 in March and had the brow suspension surgery when she was 6 at Moorfields Hospital under the care of Mr Collin. This has been successful in as much as she now has the ability to open her eyes wider but she still has a very wide bridge to her nose and pronounced epicanthic folds which i have been advised could be corrected at a later date when she has grown a bit more, and obviously if she feels this is necessary.

My concern at the moment is due to the fact that Evie appears to have started puberty - she is developing breasts,sweats under her arms, is getting spots and blackheads on her face and has put on a lot of weight.

In another respect she is behind in her physical development ie she has not lost any of her baby teeth yet.

I am aware that some girls do start puberty very young but with all i've been reading about associated fertiltiy problems etc with BPES I am wondering if the two are linked.

We have had no genetic counselling and there just seemed to be an assumption that she had inherited this from me as her half sister had/has a similar eye shape and her eyes seemed to take a while to 'open up' when she was a baby - they are perfectly normal now.

Evie's father (we are separated but still very much in communication where Evie is concerned) has seen the GP and we are waiting for a referral to a geneticist but i don't know how long this will take - my hope is that they will be able to tell us whether she is Type I or Type II.

Evie is a very bright,intelligent girl who has had her share of being teased and called names which she takes in her stride, but this growing up too fast is really upsetting her!

If any one has any references I can look up or similar experiences to share I would be very grateful.

Shena

Re: blepharophimosis Hello

e,Welcome to the group. I too am 32 and come from a family of BPES. I livein Ohio. My father had it as does my grandfather. I have it and have passedit on to 2 of my sons. My oldest son, who will be 11, is finished with hissurgeries, unless the surgereon feels he needs to have the bridge of hisnose raised. His results were fantastic. My youngest son, who will be 6 onthe 22nd, has had 3 surgeries so far and is going in this Friday for hisbrow suspension. The surgeon has already told me that he will need at leastone more surgery when he is a teenager. He too has a very flat bridge, butnothing has been said about that yet. It's so flat his glasses won't evenstay up.Again, welcome to the group.