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My husband and I avoided getting pregnant for 8 yrs, because I knew I was a carrier and my late brother had DMD. 

I put my faith in God and hoped that Aiden would not be diagnosed, but we accepted that he might be and would keep him anyway.

Although I feel super guilty and horrible that I did this to my son I am still so very happy he is here with us and that we get to raise him and spend time with him.

He is only 3 months old and was diagnosed three weeks ago. We want to have another baby with In Vitro and genetic testing on my eggs. Still, I am so very worried about the possibility again, now that the initial pain of his diagnosis is getting better, I am thinking I should not get pregnant unless I use another egg other than mine.

Has anyone done In Vitro with genetic testing and succeeded?

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Yes!!!!!!!, I am in the process of doing it now.  I went through the usual IVF process which included injections to harvest eggs.  The embryos that survived the process had a single cell removed from them.  The cells were then sent to Genesis Genetics in Detroit to test the cell for the DMD mutation.  They came back with the results and I was lucky to have two unaffected or carrier embroys.  They transfered one in on Jan. 13 and it worked the first time.  I am now eight weeks along, we need to do CVS testing to verifify at 12 weeks.  The people at Genesis are one of the few labs that complete this type of PGD testing.  There are many talented scientists working there and I expect everything to be fine.  Pls let me know if you have any questions as I have been at this since October 2011.  Also, my ins. paid for it since I had two letters of medical necessity from my genetic counselor and the head of Genesis Genetics.  Check out their web site www.genesisgenetics.com

Jen

Hi, I too had pgd and cvs, resulting in my lovely one year old (healthy) boy. It worked first time for us too. I'm not a carrier but i wasn't prepared to take the small risk of having another child with dmd.
You should not feel guilty about having your son. He's lucky enough to love and be loved, and that's the most that anyone can ask for.
Jennifer, i forgot to say how happy i am for your wonderful news! I'm so glad it worked for you!! Take care of yourself and your little bean.

Wow! Please tell me how you got a letter from the head of Genesis Genetics, gosh that would help a ton. Our concern is paying for it, not srue we can afford it but I so want siblings for Aiden, especially now.



Jennifer Bauer said:

Yes!!!!!!!, I am in the process of doing it now.  I went through the usual IVF process which included injections to harvest eggs.  The embryos that survived the process had a single cell removed from them.  The cells were then sent to Genesis Genetics in Detroit to test the cell for the DMD mutation.  They came back with the results and I was lucky to have two unaffected or carrier embroys.  They transfered one in on Jan. 13 and it worked the first time.  I am now eight weeks along, we need to do CVS testing to verifify at 12 weeks.  The people at Genesis are one of the few labs that complete this type of PGD testing.  There are many talented scientists working there and I expect everything to be fine.  Pls let me know if you have any questions as I have been at this since October 2011.  Also, my ins. paid for it since I had two letters of medical necessity from my genetic counselor and the head of Genesis Genetics.  Check out their web site www.genesisgenetics.com

Jen

Thank you Lisa, it's hard not to feel guilty but every day seems to get better for me.

lisa burke said:

Hi, I too had pgd and cvs, resulting in my lovely one year old (healthy) boy. It worked first time for us too. I'm not a carrier but i wasn't prepared to take the small risk of having another child with dmd.
You should not feel guilty about having your son. He's lucky enough to love and be loved, and that's the most that anyone can ask for.

Jessica, 

The genetic counselor at Genesis did not have any problems drafting me a letter.  In fact, I think she pretty much offered to do it.  I worked with Lauren Isley and she was extremely helpful! 

Yes! We were successful the first time as well. Our baby carter just turned one. We went thru a genetics lab in new jersey (we live in seattle area). We had 22 eggs harvested (from me) and 17 survived but only 12 were strong enough to be tested. Of those 12 , 2 were affected, 2 were carriers and 4 had other abnormalities not dmd related. 3 were implanted and carter was the result. Best of luck to you!
As far as paying for it insurance will pay for some. Just make sure you know exactly what your policy says. The problem I ran into was the dr was in network but the lab is out of network. We ended up paying around 60% of the costs. The hard part is most clinics make you prepay then reimburse you when the insurance pays them.

I do not yet know if I am a carrier, but a concern I have is that even if I am not, I could still have a percentage of affected eggs (either DMD or something else). With PGD/CVS of someone in our situation, do they typically test for more than just DMD? Will insurance typically cover IVF if you are not a carrier?

 lisa burke said:

Hi, I too had pgd and cvs, resulting in my lovely one year old (healthy) boy. It worked first time for us too. I'm not a carrier but i wasn't prepared to take the small risk of having another child with dmd.
You should not feel guilty about having your son. He's lucky enough to love and be loved, and that's the most that anyone can ask for.



Wyatt's Mommy, Melissa said:

Yes! We were successful the first time as well. Our baby carter just turned one. We went thru a genetics lab in new jersey (we live in seattle area). We had 22 eggs harvested (from me) and 17 survived but only 12 were strong enough to be tested. Of those 12 , 2 were affected, 2 were carriers and 4 had other abnormalities not dmd related. 3 were implanted and carter was the result. Best of luck to you!

Hi Jessie,

Theoretically there is a chance that you may have the DMD mutation in more of your eggs, even if you're not a carrier. It's called 'germline mosaicism' and is thought to cause the 'spontaneous' occurances of DMD in a family where the mother does not carry the DMD mutation in her own DNA. However, the risk is much smaller that if you are a DNA carrier.

There is also the risk that the egg/foetus could be any one of the many thousands of conditions that it's possible to test for (via PGD/PGH). But that risk is still extremely small and is no higher than it is for anybody getting pregnant by any method.

It might be worth asking a few clinics what they will/won't test for. In the UK they will only do the test for one thing at a time, so for me it was just the DMD mutation not any of the commoner trisomies - like Down's - or anything else (some private clinics might test for more conditions at the same time - but not on the NHS). I had to have CVS at 10 weeks pregnant to check for those conditions. I think it's up to the individual clinic because they certainly CAN test for many other things - up to 6000 conditions can be screened for prior to implantation. As I said though, the chances of anything else affecting the egg/foetus is just the same as in any pregnancy. In addition, the egg has to be deemed 'healthy enough' for them to think it'll sustain a pregnancy, and that automatically rules out a lot of eggs that may have other (not DMD) related issues as they often wouldn't result in a successful pregnancy - even under 'naturally conceived' circumstances.

I'm not sure about the insurance question as I'm from the UK.

Take care.

Hi jessica. My name is melissa and I am a carrier as well. My husband and I have a 19 month old son that was the result of ivf with pgd (genetic testing). I know about 6 to 10 moms I have met on ppmd that have had successful pregnancies as well. But I'm sure there are many many carrier moms that have had successful pregnancies. I wish you the best of luck with the decisions you make about expanding your family. I would love to share my experience with you. If you have more questions please send me a message. Have an amazing weekend.



lisa burke said:

Hi, I too had pgd and cvs, resulting in my lovely one year old (healthy) boy. It worked first time for us too. I'm not a carrier but i wasn't prepared to take the small risk of having another child with dmd.
You should not feel guilty about having your son. He's lucky enough to love and be loved, and that's the most that anyone can ask for.

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