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Hi Hope,
Thanks for your message. I am one of PPMD's genetic counselors. I would ask your doctor to also order the genetic testing since that is much more accurate than CK level. If you have any questions about your son's diagnosis and what that means for him, you and the rest of your family, please feel free to call (201-937-1408) or email me directly at ann@parentprojectmd.org.
Best, Ann Martin
Hello all, my son is 2 and he just diagnosed with DMD. I haven't had any genetic test to determine if I am a carrier, but they tested my CK levels and since they are elevated, his DR said that I am most likely a carrier. So, here I am!
Hi Lauren,
Thank you for sharing you story. We are actually in the midst of planning a carrier campaign, to focus more on carriers and your specific needs and concerns. Please stay tuned! If you are not already registered on DuchenneConnect, I encourage you to register yourself when you have a moment. We are very interested in collecting data on carriers.
Please email me directly with any questions you may have. I can also determine if you already have an account in the registry: ann@parentprojectmd.org.
Kind regards,
Ann Martin, MS, Certified Genetic Counselor & DuchenneConnect Coordinator
Dear Lauren,
Take care and thanks for sharing.
Trinh
Hi I'm Lauren, I am a carrier and have a son with Duchenne who is 23. I have always had large calves, have had two echocardiograms as a precaution which have been fine and that has been my only dealings with my carrier status. However, a few years ago I noticed that I started having problems walking up stairs. I went to a neurologist and he performed an EMG on me and told me that I had thin muscles, and that I definitely had some type of abnormality in my muscles. He also recommended that I not perform any really strenuous exercise such as skiiing because the muscles breakdown so much. Just thought I would share. Thanks.
Melissa, Andrea, and Ann
Thank you for your kind words and welcoming me to the group.
Hi Sarah,
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 ann@parentprojectmd.org or you can call me at 201-937-1408.
Kind regards,
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...
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