Hello again

Some carriers are also sufferers. If your son and his dad share some symptoms, perhaps they share the same genetic mechanism. Have you all been tested?

There have been some cases where the genetic cause was not established, so another possibility is that there is some cryptic genetic mechanism, that cannot yet be discovered.

It seems strange that your doctors can be so absolutely positive when some studies (plus anecdotal evidence here and elsewhere)  indicate that some of the supposed "rules" of this condition are not so hard and fast as they would have you believe.

If you "didn’t like that explanation", trust your instincts. That is the one sure thing that comes through again and again on this site.

Good luck...