Hi Amy

Sorry for more questions, but just want to check on something. Has your Dad actually had the genetic test and been told he has the same mutation (gene variation) as your uncle?

Your Nan is a carrier, but she has two X chromosomes. She passes one X chromosome on when she has a child. (And the man passes either an X or a Y, so the baby then has XX or XY). So, for each of Nan's children, they have a 50% chance of having the X with the mutation.

If your Dad hasn't had the genetic test yet, this will change your risk figure (that you are a carrier) to 25%.

Also, if the family mutation is known, a woman may be able to have PGD and select only babies that do not have the mutation. This could still be a boy, just carrying the 'healthy' X. It all depends on which gene is involved and if they can make a genetic test that will work on only one cell (which is how PGD works).

I read your other post, and i am glad you are feeling a bit better. If this post is overload, feel free to ignore it and come back when you are ready.

take care,

kate