So I don't know where to post this, so I am hoping if I post it here many people will see it...

Okay so our son Trey has a deletion of Exon 52 which we found out about while I was pregnant with our daughter. After having our daughter I was genetically tested and found to not be a carrier, but the genetisist did say that there is a small possibilty of Genetic Mosaicism.

Now 4 months after having our Daughter I get a call from my OB doctor stating that she is leaving the practice and wanted to know if I wanted to go through with the tubal litigation (since I said I wanted it if I were a carrier) fear is that if I don't do it now that the Navy won't pay for me to have it done later (since I am not a carrier and the doc saw my fear with pregnancy so offered to do it regardless/but our insurance for a tubal litigation requires you to be 45 years of age), however, with as much faith as I have that we are going to be having a cure here in the very NEAR future, if things don't work out I don't want Cassidy Hope to be left all alone, so their is a possiblity of maybe another for us in the next few years. We don't know at the time.

Now my question is: Are any of you or your wives not a carrier and ended up with more then one son with DMD??? Which would show for possible Genetic Mosaicism...

With Blessings & Thanks, Cori

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Comment by Cori on March 16, 2010 at 12:53pm
Thanks everyone for the replies. I am currently nursing our daughter and on the 'minipill' and was told that no other birth control options (like and IUD) would be a great choice since they tend to dry out the milk supply, but I think that is a great idea.

I am not going to do anything 'rash' right now, just stay on the bc I am currently on, and if it really does become an option I am going to request that they test Cassidy...trey has a team of 5 doctors as I am sure many of your sons do, neurologist, cardiologist, developmental ped, etc...and I am sure if I tell them look it is cheaper for you to test her then have a dmd afflicted boy, then maybe I can get one of them to put in the request to Tricare...if not then PGD would probably be the way we would go or adoption of a baby if we decided we wanted another in the future.

It is a hard decision either way you look at it, to be honest...but thank you!
Comment by lisa burke on March 16, 2010 at 6:14am
I've had several meetings with drs/geneticists about this. Providing you have lab analysis of your affected son's genetic mutation (i.e are sure of the deletion/duplication etc) PGD is accurate approx 99.5% to 99.8% of the time in ensuring that any emryos produced via IVF are free of that particular DMD mutation. This % may vary depending on your clinic but PGD is a 'perfect' as it gets I think.
It's worth remembering that, with sex selection only, girls can get DMD too.......... As we know on this site.
It is, as has been mentioned, up to personal choice.
Comment by Jonathan on March 4, 2010 at 10:30am
My partner, Anna, had 2 boys to her previous marriage which didnt have DMD. The next child did have DMD, but Anna isnt a carrier. We are looking at having another baby, and we were told the odds on having another affected child to gonadal mosaicism was about 10%. We were told we could have IVF and have the embryos screened, but it isnt perfect and can only reduce the chances by 5%. On the other hand as DMD is an X-linked disorder we can have IVF and 'choose; to have a girl, as the worst that can happen is that she could be a carrier but not an expressor. I guess it comes down to personal choice in the end.
Comment by Connor's Mom - Deanna on February 21, 2010 at 10:25pm
Hi Cori! First I am sorry to hear about your son Trey. I have twin 4 yr old boys. One with DMD and one without. Anyway, what about putting in an IUD? One can be inserted up to 10 years without hormones and one for 5 years with low dose estrogen. If you change your mind about getting pregnant, your doctor can take it out and you can go immediately back to being fertile. It is not as permanent as getting your tubes tied but a pretty reliable form of birth control. This way you and your husband can take time to decide what is best for your family. Good luck!
Comment by Cori on February 21, 2010 at 1:47pm
Thank you Kim, Andrew, and Jenn for your relpys, I appreciate it tremendously! It feels like we are at a crossroads right now trying to decide if we want to just end the option of having 3 or continue to keep it in our thoughts...3 was what we both always wanted...and you know when you have those dreams and then something like this happens it changes your thought process tremendously. And with Trey (our son) we know that no one is going to love him more then his family, and we want him to be surrounded by that love since we both grew up with large families.

What brought me to this concern was the genetists talk about a (I think she told me a 2% chance) of genetic mosacism, but then I was online about 2 weeks ago and I came across an article (can't remember the article name) about the fact that more research needs to be done on DMD spontaneos mutations because they believe that in about 1/2 of the cases of spontaneous mutations, they feel might rather be genetic mosacism...they believe DMD might have the highest rate of genetic mosacism then any other disease...I so wish I could find this article again and share it with you all.

I guess with even just looking at this it looks like Genetic Mosacism really may be more prevelant then what the Genetist has previously mentioned which means that we probably need to consider if the other options would work for our family, I just wish that they would test Cassidy and see if she has the 52 deletion and that would make this that much easier, but of course they refuse to at this time. In the case that she is a carrier due to the possible genetic mosacism we absolutely wouldn't want to have another child (even if it were a girl) because we wouldn't want her to go through what we have gone through, wondering if she is going to pass it onto her sons and even her daughters.

Please if there is anyone else out there, post. I really think with that article this needs to be something that is talked about.

Many thanks, Cori
Comment by Kim Maddux on February 21, 2010 at 12:35pm
HI - My son Alex who is 10 was diagnosed 5 yrs ago. We were trying for baby #2 when we found out about him. They told us to stop. I did the genetic testing and was told the same thing as you...not a carrier, spontaneous mutation, but we had a 20% chance of another affected child. We would not risk it, so we did PGT (pre-implementation genetic testing). Our first IVF treatment, resulted in a DMD affected boy that was not implanted. I did not get pregnant on this cycle. Our second round of IVF was successful. We now have 3 year old boy/girl twins. It's a tough and personal decision. Good luck to you.
Comment by Andrew Kerr on February 21, 2010 at 11:00am
Just as a thought, have you talked about your husband having a vasectomy? My wife and I had planned that all along, and after our second son was born (and we thought they were both healthy), I had it done. After we found out about our boys, my wife had a tubal (well, a similar procedure that puts some sort of plugs in the tubes, with the same end result), just to be absolutely certain.

If that's not an option for whatever reason, then as Jenn said, there are other options, even adoption.
Comment by jenn on February 21, 2010 at 8:09am
i am a non- carrier, i have an 8 and 11 year old with duchenne...i also have a 2 year old (son ) without duchenne.he was conceived naturally, but there are lots of ways to have another baby that has a very good chance of not having duchenne. my family was really angry when i announced baby numberr 3 was on the way. they were sure he would have duchenne. we watched him closely and at a year he was tested, he is fine. he is a joy and i am so blessed to have him. we are considering another baby and may try naturally or we may let a lab help and give us a girl. the folks at microsort have been really helpful, you can email them just google the name, im not good with links. let me know if you have any questions, take care, jenn

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