Comment

Staff Comment by Ann Martin on November 17, 2015 at 1:58pm

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

Comment by Hope on November 16, 2015 at 4:56pm

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!

Staff Comment by Ann Martin on October 21, 2014 at 3:11pm

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

Comment by Trinh Nguyen on October 19, 2014 at 9:45pm

Dear Lauren,

Take care and thanks for sharing.

Trinh

Comment by Lauren Ferrari on October 19, 2014 at 1:33pm

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.

Comment by Sarah Schurman on February 17, 2014 at 1:35pm

Melissa, Andrea, and Ann

Thank you for your kind words and welcoming me to the group.  

Staff Comment by Ann Martin on February 17, 2014 at 9:55am

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 

Comment by Andrea Cleary on February 14, 2014 at 10:22am

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...

Comment by Wyatt's Mommy, Melissa on February 14, 2014 at 1:18am

Sarah just have faith, i know you are scared, but like you said God has a plan. I had 3 healthy sons before my son with DMD, I know 50/50 is tough odds, but please be strong no matter the outcome our community will support you, emotionally at least, best of luck with your little one. Either way you have a new soul to love and that's a beautiful gift.

Comment by Sarah Schurman on February 14, 2014 at 12:54am

My name is Sarah, I'm a carrier of duchenne muscular dystrophy. My husband and I have a beautiful 2 1/2 year old girl. We trusted God when we were trying for her that he would bless us with a little girl and he answered our prayers. We were done having kids when he had a different plan for us as I'm 3 weeks away from giving birth to a little boy. We don't know yet if he has DMD and won't till after he's born. I struggled when I found out I was pregnant with a boy. I was mad at myself and felt guilty as I know what it's like. My brother had DMD and passed at 20 years of age. I don't know what the future holds for my son but I'm starting to get very scared since he will be here soon. I pray he's not affected but only God know the plans he has for my son. Any support/advice is greatly appreciated. God Bless!

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