I recently had some bloodwork done for my 9 year old daughter and decided to have her CPK checked at the same time. It came back normal. I have been tested and am not a carrier. I know my daughters normal CPK means she is most likely not a carrier but that CPK is not conclusive on that and I need to have my girls further checked like I had. My question is, if they come back as not bring carriers are they save to have kids without the risk of DMD? or can they be germline carriers like I may be? Will they have to have the PGD/IVF when they have kids someday?

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Such good questions.

We had to do a little "shopping around" to get the genetic test ordered for our 3 year old daughter. Our pediatrician ordered it for us when the muscle clinic wouldn't because of "ethics" (which is ridiculous, in my opinion). So now we know she's a confirmed carrier just as I am. I'm not sure if my known carrier status made a difference in getting the testing or not. It's my opinion that somebody ought to let them have a good look into *their own bodies* if they want to know what's there. It seems awfully silly to me for a doctor to tell you that you can't.

As for your questions, there is a risk that your girls's sons could have DMD. I don't know how elevated it is compared to the general population. That's a good question for a genetic counselor or your DMD doctor. But you know, there is a 1:3500 risk for any mother's son to have DMD and 1/3 of those are the same kind of "spontaneous mutation" you've got in your family.

And, as you also know, girls grow into women and women form their own opinions about all kinds of topics ... No one *has to* do IVF. It's a choice which is one among many. Hopefully by the time they grow up, there will be a cure and all of these questions will be moot points. But, if there isn't, they will have to choose between having no kids, adopting kids, IVF with options to have only girls or to have no DMD carrying eggs, or CVS/amniocentesis with the attendant abortion/no abortion question, or ... do it the old fashioned way and maybe raise a boy with DMD.

I hope that no one in your family is a carrier and that the answers you find for your family are what is right for you. Best of luck.
If your daughter is not a carrier she has an equal chance as anyone else to have a child with DMD. You should of course have her tested but if the DNA test doesn't show a mutation then she was not born from one of your affected eggs assuming that you are a germline carrier. So I would think that the chance for her to be a germline carrier is as high as of any woman's.
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.
Yes, you are a germline carrier, a percent of your eggs carry the mutation. Nowadays they have a statement on the DNA test stating that even though some of us are not DNA carriers there is a real possibility that some of our eggs carry the mutation.

Vicky Williamson said:
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.
Vicky,

Exactly what doctor told you she couldn't be a carrier. Germ line carriers is not something that was just discovered. I was tested for carrier status and my doctor made it very clear to me that my daughters could be carriers even if I was found not to be. I'm sure your daughter is thankful that you guys finally got correct information. Of course now she has many other things to think about now when it comes to having children.

Ivy,

I have different thought on the subject of having daughters tested. Even though I am very curious about my two daughter carrier status I feel it is their decision as to when to find out if they are carriers. One is 18 now and the other is 11. They are both well aware that they could be carriers. A short time ago I asked my older daughter if she would like to find out. Here reply was that she would love to know that she was not a carrier but at this time she didn't want to find out that she was. I believe it is her body and her decision to make.

Janine

Vicky Williamson said:
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.
The doctor that we were seeing at the time was Kevin Josephson (genetics counselor) at Gundersen Clinic in La Crosse, Wisconsin. We saw him at the time our son was diagnosed and then our daughter saw him just a few years ago. Our current genetics doctor at Mayo Clinic in Rochester got all the reports from Gundersen and just said straight out "Dr. Josephson was wrong!"
There has been alot of discussion about having daughters checked and it is a very personal decision. both of my daughters very early on wanted to know for sure, even though I was not a carrier. I asked Dr. Wong about it and she said, well, if they come with you sometime we can test them (no rush). Well, my oldest daughter started having neurological issues and needed to see a neuro. Our neuro locally will never again touch any of my kids so I took her to see Dr. Wong. We had her tested and she is not a carrier. Then my younger daughter started exhibiting mild signs like a carrier may exhibit, so Dr. Wong had me bring her to her for a look and a blood test. Turns out she is not a carrier either. BUT, I think you really need a REASON to check before they are 18 in order for a lab to do it. I am assuming that my son was a spontaneous mutation since it does not appear to be a germline issue, but who the (*&^(*&(*&U really knows!
I can't believe that a doc in recent years would tell anyone who has a sibling with DMD that they 'can not' be a carrier! How insane! i get so sick of Dr's not knowing some pretty basic stuff! Good luck Karen on your 9y/o....
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.
I believe you are correct. Non-carrier daughters have the same chance as any other woman to have a son with DMD.

The only statement I would change a little bit is: "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". In that case I would say there is a low probability that you are a germline carrier but no one knows how "low" the probability is. You could still be a germline carrier, have a low percent of eggs affected and by luck your daughters were not born from one of those eggs.



Lori Ware said:
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.
But the genetic counselor told me that the spontaneuos mutation occured while I was in utero and not while with my son in utero. The spontaneous mutation occured with me thus I passed on the mutated X to my son. That to me means that my eggs were effected and I have the germline mosaicism. This is my understanding anyway. There have been some mothers on here that were not carriers, went on to have other children through IVF/PGD and found that a high percentage of their eggs were effected. If this is true than it seems like my daughters would have a higher risk than the general population of having a child with DMD as their eggs could be affected by bad X's through me. Am I thinking along the right lines here?
Karen,

If you have passed this on to your daughters they would be carriers and it would be in their dna. This would show up in their dystrophin gene during testing. They can not become a germ line carrier through you. So if they are tested and found not to be carriers then they are no more likely than any other woman in the general population to have a son with dmd. You would only be able to know if they had a higher risk of passing dmd down by finding out if they are carriers.

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