For moms who are carriers of Duchenne
Latest Activity: Feb 17
Started by Mandy Kerr. Last reply by Kathleen Drake Oct 29, 2013.
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Melissa, Andrea, and Ann
Thank you for your kind words and welcoming me to the group.
Congratulations on your pregnancy and the upcoming birth of your son! That is wonderful news and such an exciting time for your family, but also a little scary too. I am not sure if you plan to test your son right away, or if you want to wait and see how he progresses. Obviously that is your decision but we are available to discuss this with you if needed, and I imagine your pediatrician is too. Just an FYI, we do have a genetic testing program through PPMD called Decode Duchenne. If your insurance would not cover your son's testing, he may be eligible for free genetic testing through this new program.
If you want to discuss anything further, feel free to email me directly at email@example.com or you can call me at 201-937-1408.
Ann Martin, MS, Certified Genetic Counselor & DuchenneConnect Coordinator
Dear Sarah, I am sorry for the agonizing wait you have during the pregnancy. If your son does have dmd, it will just be a different path you will have to take than the one you thought, with rougher terrain, but the journey is worth it and the destination is that much greater (the depth of love that can be experienced by your entire family and the wonderment of life)
Hit out of the blue with a lightning bolt or God's plan, whatever you believe, we are all saddened and in shock when our precious kids are diagnosed, whether there was a family history, or whether it was a new mutation in us or our child, whether we are an expert in the field or have never heard the word Duchenne.
As Melissa said, we are hear to listen if and when you need.
May you be at peace in the end of your pregnancy that things are what they are and that you can deal with whatever life throws at you, with grace and patience. Give that little girl some extra hugs and let the love flow. It will be ok, no matter what. Now let's hope for the easy path...
Thank you so much. I got your e-mails. So, I quite understand the case if my mom gets gene mutation. But if the case is germline mosaicism or gonadal mosaicism as you said, it is a little confused.
Anyway, we should wait for my mom's test result at first.
I will comeback and ask for your guidance then.
Yes, Andrea is excellent and very supportive. My family loves her.
Thanks a lot.Trinh
I wanted to let you know that I sent you two emails earlier today regarding your questions about family history and carrier testing. Please let me know if you did not receive them. I apologize for my delay in responding...I'm currently in England at a Duchenne conference. If you want to talk by phone, please feel free to call me anytime next week (201-937-1408).
And thank you Andrea for your helpful responses! You get an A+ in genetics! ;)
Ann Martin, MS, CGC, Genetic Counselor and DuchenneConnect Coordinator
Thank you Kathi. I am also very blessed to be a part of THIS village. Its nice to talk with people who understand, because so many people don't. Thank you again for your kind words and encouragement.
Thank you Kathi. My husband told me I read too much. I responded with, "as long as I gave the boys this gene, I will BE SURE they have the best life possible and a pain free as possible". Can I just say, that was the end of that conversation haha. My husband is very supportive, just worries and is in denial a lot. Poor guy.
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