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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.
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 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
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