My 8yr old has DMD (duplications of exons 46-60) my carrier testing was negative. I am currently 15 wks pregnant and have learned that there is a 15-20% chance that this fetus could have DMD due to germline mutation or mutated eggs. Two ultrasounds have confirmed it is a boy and the perinatal clinic is hitting a wall in finding a lab to do the testing since I am not a carrier. Anyone have any info?

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I had a CVS with my 3rd child and we had already made the decision to terminate if our baby was found to have MD. Luckily it was a girl and no further testing was required. I know my decision to terminate sounds so harsh, but I can't willingly do that to another child after seeing the difficulties my son has and his heartbreak already at this age when he sees other kids doing the things he wants to do. However, they are my own thoughts and each person is different. For those of you who would not terminate, this is indeed a very difficult decision for you and my heart goes out to you. It would be a gut-wrenching decision to have another child and not be aware of the outcome before venturing down that path, with the chance of having another child with MD. It is unfortunate that insurance will not cover things like this - I somewhat think insurance companies have their priorities wrong! THey will pay for a breast augmentation but not for PGD testing? Now that is what I call totally warped priorities!
Amy,
I am not a carrier as well and my last pregnancy was a big surprise too! I was on birth control as well. I can't even imagine the anxiety you are feeling over this. Looking back I'm glad I didn't know about my son before I had my last child as I would have been a nervous wreck. My 4th child (a son) was 4 months old when I got my 5 year old son Daniel's diagnosis of DMD. My youngest son turned out to be fine with no DMD. We had him tested at 4 months right after we got Daniel's diagnosis. Anyway, I just wanted to let you know this and hope it makes you feel a little more at ease. Being that you are not a carrier the odds are on your side that he will be just fine. I'll be praying for the best for you and your baby. It is not right that the insurance won't cover the testing.
How can they not cover prenatal testing when you have a child with DMD? I would fight this!

But as someone else said, if you do not consider the option to terminate the pregnancy then there might be no need to have the test done, unless you want to have an answer sooner. The prenatal testing also looks at other chromosome abnormalities if that is something one might be interested in. Good luck to you!

Amy Kendrick said:
Well looks like we have no choice. My insurance will not pay for the prenatal testing. We will just have to deal with whatever the outcome maybe. In some way a relief at least now I don't have to decide to continue or terminate the pregnancy! I think I know that I could not have ended it. I'm just so frustrated however of the ignorance when it comes to DMD.
Good luck to you! I am the one they were talking about who is not a carrier but who has 70% of my eggs affected. I have done PGD/IVF twice and would like to do it again. $25,000 is very expensive. I know that mine did not cost that much. My newest obstacle is that I am getting a divorce and need a new husband or at least a donor :) Please keep us posted, we will pray for you.
I also did IVF with PGD - I'm the one who had 15% of eggs affected.

I absolutely cannot believe that your insurance company will not cover the testing. I think you could bring some documentation to them about how much it costs to cover the medical treatment of a child with DMD and give them the choice about which they would prefer to pay (it will run into the millions). I'm not advocating either way about termination, but I think you should be free to make your own choice without considering the cost of testing. That's just not right.

My 3 years old son recently diagnosed with DMD. TOday i got my genetic report that I am not a carrier. We were planing to have a second one. Doctors  said there is 15% chans to have another affected boy. I realy do not know  what to do.If you share with your experience I will be very glad.

Hi Dilfuza, I also have a 3 year old with DMD and am not a carrier. Whilst the odds are in your favour that any subsequent children will be free from Duchenne (and remember, there's a 50/50 chance that you may have a girl anyway) I can totally understand your worries. It's for those reasons that I decided to have PGD (pre-implimentation genetic diagnosis) and now have a healthy 22 month old baby boy. 15% sounds a bit high though - I was told my risk was about 7% I think? (All of my embryos/eggs were DMD-free by the way).

 If PGD isn't an option for you (it can be very expensive) you can always have CVS at 10 - 11 weeks of pregnancy to assess the sex/health of the baby. As you know your son's exact mutation, it's possible to search for that in the embryo (if it's a boy). If the baby's a girl, Drs tend not to bother with the mutation test as it's time-consuming and expensive. There's also conventional amniocentisis at 15 - 16 weeks too (although many people prefere CVS now as it can be done earlier, and may make the decision to terminate more 'comfortable'). It very much depends on the individual's feelings about this.

Both CVS and amnio carry a risk of miscarriage - about 2% and 1% respectively. However, if you can find a reputable and experienced Dr the risks are actually much lower.

Whatever you decide, it's most certainly possible to have another, healthy child. There are plenty of us on here who do.

I hope this helps - good luck.

 

Lisa

 

Hi Liza.  Thank you very much for you advise. You provided me with very important information.

PGD is very expensive. May be i will go for CVS. I hope everything goes well. My son has deletion of 52 exon.  in my case I am not a carrier ,but  I should not forget also about germ line mosaicism also that it may have more % to have another affected boy. I hope you are doing well. I would like to ask you some question If you do not mind. We recently came to know that my son has DMD and we are still new in this field. Where do you take your son for the consultations or regular check ups?how much is one visit to doctor?You may wonder why I am asking such a questions. We live in UAE here we visited some of the doctors but  they do not know  much about DMD. So we wanted to take him to Germany to get the consultation from the right specialist. We were told for 2 hours consultation is EUR 7.500. I would like to know whether is really reasonable price ? If I take  my son to Europe for private clinic may be it may cost cheaper than to go to this hospital . I would be glad for you advise.



lisa burke said:

Hi Dilfuza, I also have a 3 year old with DMD and am not a carrier. Whilst the odds are in your favour that any subsequent children will be free from Duchenne (and remember, there's a 50/50 chance that you may have a girl anyway) I can totally understand your worries. It's for those reasons that I decided to have PGD (pre-implimentation genetic diagnosis) and now have a healthy 22 month old baby boy. 15% sounds a bit high though - I was told my risk was about 7% I think? (All of my embryos/eggs were DMD-free by the way).

 If PGD isn't an option for you (it can be very expensive) you can always have CVS at 10 - 11 weeks of pregnancy to assess the sex/health of the baby. As you know your son's exact mutation, it's possible to search for that in the embryo (if it's a boy). If the baby's a girl, Drs tend not to bother with the mutation test as it's time-consuming and expensive. There's also conventional amniocentisis at 15 - 16 weeks too (although many people prefere CVS now as it can be done earlier, and may make the decision to terminate more 'comfortable'). It very much depends on the individual's feelings about this.

Both CVS and amnio carry a risk of miscarriage - about 2% and 1% respectively. However, if you can find a reputable and experienced Dr the risks are actually much lower.

Whatever you decide, it's most certainly possible to have another, healthy child. There are plenty of us on here who do.

I hope this helps - good luck.

 

Lisa

 

Hi Dilfuza. I'm based in the UK so I take my son to Great Ormond Street Hospital in London. There are some very experienced doctors there (in DMD). I'm afraid I can't help you with cost, however, as our healthcare is provided on the NHS. It may be worth contacting the Neuro-muscular clinic there and asking what private clinics they might recommend in Europe?
Good luck and take care.
Lisa


Hi Liza. Thank you for your reply. I will try to contact the places you advised. Best regards
lisa burke said:

Hi Dilfuza. I'm based in the UK so I take my son to Great Ormond Street Hospital in London. There are some very experienced doctors there (in DMD). I'm afraid I can't help you with cost, however, as our healthcare is provided on the NHS. It may be worth contacting the Neuro-muscular clinic there and asking what private clinics they might recommend in Europe?
Good luck and take care.
Lisa
I did PGD/IVF for my children. I am NOT a carrier. They also told me 15-20% chance. That is simply NOT TRUE! No one knows how many of their eggs could be affected throught germline mutation. My first group of embryos had 70% of embryos affected. My second pregnancy had 60% of embryos affected. So much for their 15-20%. Sometimes insurance companies will pay for the PGD/IVF if it is coded under genetic testing instead of infertility. I kept explaining that I am not infertile, but the only way to genetically test is embryo is through IVF and that it would save them tons of money in the long run to avoid having another child with DMD. Good luck to you :) I will send good thoughts for a healthy baby boy.
"Ric" (Erica)
Oops just realized how old this post was and that I already posted about this :( Sorry, my brain is fried! LOL

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