Tags:
I just want to share our story with anyone I can: My son was diagnosed in 1998. At that time I was tested to see if I was a carrier. I was not.
My daughter went in to get tested as well but was told that she could not be a carrier. Well, now she's married and ready to start a family.
My son is 16 and has not had any signs of puberty so he was referred to a genetics doctor and while review my son's file, he asked if there were any siblings one thing led to another and he felt that my daughter should still be tested even though I'm not a carrier. He said my "eggs" could have been defective and to eliminate any concern -- get her tested. Her results came back friday and she IS a carrier.
I just want to share our story with anyone I can: My son was diagnosed in 1998. At that time I was tested to see if I was a carrier. I was not.
My daughter went in to get tested as well but was told that she could not be a carrier. Well, now she's married and ready to start a family.
My son is 16 and has not had any signs of puberty so he was referred to a genetics doctor and while review my son's file, he asked if there were any siblings one thing led to another and he felt that my daughter should still be tested even though I'm not a carrier. He said my "eggs" could have been defective and to eliminate any concern -- get her tested. Her results came back friday and she IS a carrier.
So, if our daughters are tested and found to NOT be carriers can they have safely have children one day or are they at risk for being germline carriers as well and having a son with DMD? Even though I am not a carrier there must be a percentage of my eggs affected. I am assuming this is correct as I was told that the spontaneous mutation happened to me (my eggs) when I was in utero and this caused the DMD in my son.
I know I have brought this up before on the old forum but I really feel rather unclear on this issue still. My one daughter talks about having children one day and I don't know what to tell her when the time comes to talk about this. At 11 and 9 I see no point in worrying them and having this discussion now.
This whole thing seems like a very gray area.
karen, This is my understanding..so take it for what it is worth!! Any woman can have a son with DMD one of 3 ways: 1. She is a carrier
2. She is a germline carrier
3. She has a random spontaneous mutation
If you have several children yourself, are not a carrier, AND have daughters that are not carriers and only have one son with DMD, chances are you are not a germline carrier either; Daniel, like Seph, just drew the unlucky straw through a random spontaneous mutation.
So, if you daughter is not a carrier, she has the same chance as any woman to either be germline or have a spontaneous mutation...
I hope this helps and ANYONE feel free to tell me that I am wrong! This affects my daughters as well!
Lori
Karen Barnett said:So, if our daughters are tested and found to NOT be carriers can they have safely have children one day or are they at risk for being germline carriers as well and having a son with DMD? Even though I am not a carrier there must be a percentage of my eggs affected. I am assuming this is correct as I was told that the spontaneous mutation happened to me (my eggs) when I was in utero and this caused the DMD in my son.
I know I have brought this up before on the old forum but I really feel rather unclear on this issue still. My one daughter talks about having children one day and I don't know what to tell her when the time comes to talk about this. At 11 and 9 I see no point in worrying them and having this discussion now.
This whole thing seems like a very gray area.
© 2023 Created by PPMD.
Powered by
Badges | Report an Issue | Privacy Policy | Terms of Service