Christina Fincken
I have a 3 year old son who is affected and a 32 year old sister who has the full mutation but is unaffected. Girls are often not so severly affected as boys because they have to X chromosones and often whats missing in one is compensated by the other. This is not always the case though. As far as having any more children or not this has to be a matter of personal choice. They are options open to carriers such as pre natal testing, Pre implantation genetic diagnoise (I've experience of this and its not proven to be very sucessful) or egg donation. It's a difficult one. If you have any specific questions I'd be happy to try and answer them. Regards.