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.
About this blog.
Abbe is the greatest little character. A fighter with a congenital heart defect. A sweetheart with a chromosomal aberration. These are my memos and thoughts from Abbes birth and on.
.... If you want to follow us from day one, please scroll to the bottom of the blog - to mid-March 2005.
....The postings are currently being translated from Swedish to English. Eventually we will reach todays date.
.... Then you can read it from the top, like a usual blog. About an unusual boy.
.... If you want to follow us from day one, please scroll to the bottom of the blog - to mid-March 2005.
....The postings are currently being translated from Swedish to English. Eventually we will reach todays date.
.... Then you can read it from the top, like a usual blog. About an unusual boy.
Who comments?
What does it mean?
"Heja Abbe & Brorsan" is Swedish and translates roughly into "Go Abbe & Bro". I didn't translate it because I kind of like the header the way it is.
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