Dear Friends,

Can anyone help me make sense of this!

We have three sons diagnosed with DMD since November 2012 - Our sons are now 8 (duplications 3 -7) and 3 year old identical twins . I have been told I am not a carrier for DMD - I have no family history and in my generation we have 6 boys and me! I h been told my children "are random mutations" - what a phrase! Can anyone explain? Maybe it is not possible to know??

Perhaps it is irrelevant for us - I am too terrified to even try and have another baby. I detest DMD - when we  all get the miracle we crave ? Excuse the rambling!

Greetings from Ireland,

Thank you.

Paula

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Paula--

I am so sorry to hear your story.  It is my understanding that if you are not a carrier you likely have a condition called gonadal mosaicism.  It is when you do not carry the mutation genetically but your eggs carry the duplication.  It was explained to me by Dr. Richard Finkle (who was at Children's Hospital of Philadelphia at the time), that because each woman has thousands of eggs there is no way to test to see what percentage of your eggs carry the defect.  However, if you wanted to have another baby you could do in vitro fertilization and the embryos could be genetically tested to make sure all were healthy before implantation.  I was told this condition was extremely rare, so that we took our chances getting pregnant again naturally.  We then went through cvs testing at 11 weeks (they can do this earlier than an amnio), and luckily had a healthy baby boy.

I will keep you in my prayers!  I am so hopeful that there will be a medication, or at least a clinical trial that will help many in the very near future!

Regina Reidenberg 

Sounds like gonadal mosaic. 


Dear Regina, Many thanks for taking the time to reply. I was assuming the likely answer is gonadal mosaicism. Someone said it could be from egg or sperm (not that it matters to us). Such a vile disease. We must all keep going and praying. God Bless. Best wishes to you and your  family. Paula & the men xxx


Regina said:

Paula--

I am so sorry to hear your story.  It is my understanding that if you are not a carrier you likely have a condition called gonadal mosaicism.  It is when you do not carry the mutation genetically but your eggs carry the duplication.  It was explained to me by Dr. Richard Finkle (who was at Children's Hospital of Philadelphia at the time), that because each woman has thousands of eggs there is no way to test to see what percentage of your eggs carry the defect.  However, if you wanted to have another baby you could do in vitro fertilization and the embryos could be genetically tested to make sure all were healthy before implantation.  I was told this condition was extremely rare, so that we took our chances getting pregnant again naturally.  We then went through cvs testing at 11 weeks (they can do this earlier than an amnio), and luckily had a healthy baby boy.

I will keep you in my prayers!  I am so hopeful that there will be a medication, or at least a clinical trial that will help many in the very near future!

Regina Reidenberg 

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