2 September 2005

Passing it on?

Approximately 90% of people diagnosed with the 22q11 syndrome have a nymutation, which means that the error in the genetic material appears for the first time with that person and has not been inherited. That’s how it worked with Abbe. My wife and I were tested as soon as it was clear that Abbe had 22q11. Neither of us were carriers.

But if one parent has 22q11 there’s a 50% risk of inheritance for children. So there’s a fifty-fifty risk that Abbe’s children will get the syndrome.

Is that burden too going to rest on his shoulders when he grows up and wants to start a family? I’ve done a good bit of thinking on this matter and felt rather sad the other day when I talked to my big sister (the pediatrician). She said: “Ah, give over, you can’t be worrying about stuff like that? What if he’s gay? There’ll be no problem then, will there?”

How true.

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