Comment

Comment by Trinh Nguyen on October 31, 2013 at 11:49pm

Dear Ann,

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

Staff Comment by Ann Martin on October 31, 2013 at 10:27am

Dear 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! ;)

Best,

Ann Martin, MS, CGC, Genetic Counselor and DuchenneConnect Coordinator

Comment by Kathleen Drake on October 30, 2013 at 9:18am

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.

Staff Comment by Kathi Kinnett on October 30, 2013 at 9:03am

Kathleen - no mother would do anything knowingly to hurt their child. You did not do this to your child - it just happened. Things happen. And then, as parents, we pick up the pieces and we do the best we can. Everybody gets something - your sons' something is Becker. And that stinks. But we at PPMD will do everything that we can to help you be the best parents you can be and to help your sons to live their best possible life. It takes a village. We are happy to be a part of your village~

Comment by Kathleen Drake on October 30, 2013 at 8:13am

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.

Staff Comment by Kathi Kinnett on October 29, 2013 at 3:04pm

Good - sorry I'm just getting back to you. Please let me know if you have any questions, or just want to talk ~

Comment by Kathleen Drake on October 29, 2013 at 12:46pm

Scratch that Kathi. I found it. Thanks. I learned more than I think I wanted to but necessary.

Comment by Kathleen Drake on October 29, 2013 at 11:52am

Kathi Kinnett, I really don't see anything in reguards to Beckers on the care page:(

Comment by Kathleen Drake on October 29, 2013 at 11:47am

Kathii, Thank you so much for this information. It sadens me that I have passed this horrible gene to them. And I have apologized to them as well. I will definitely take your advice as you seem to have great knowledge. THank you and I do hope to speak with you again.

Staff Comment by Kathi Kinnett on October 29, 2013 at 11:02am

Kathleen - I'm very sorry, but, yes, unfortunately, you sons' symptoms will worsen as he ages. Becker is a milder, more slowly progressing muscular dystrophy than Duchenne, but his muscles will continue to weaken over time. As I am sure you are aware, they will need to continue to have their skeletal muscle strength and function, as well as their respiratory and cardiac functions checked as they get older. you go to the PPMD care page, I think you will find useful information. If you need more, or have questions, please let me know. You need to have your heart checked as well (EKG and echo/cardiac MRI every 3-5 years if your results are normal) as moms who are carriers are at increased risk of cardiomyopathy.

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