Started this discussion. Last reply by Chris Diemler Dec 5, 2013. 1 Reply 0 Favorites
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Started this discussion. Last reply by Wendy Kelly Jul 30, 2012. 1 Reply 0 Favorites
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Hi, Jessica,
Nice to know you. My name is Van Anh, I live in Vietnam, and my son have deletion of exon 18-25. We all need exon 17 skipping. And my son was diagnosed just in early this week. He is 17 months now. Hope to be your friend.
Have a nice day, Jessica.
Van Anh
Thanks for the comment. Don't give up on Exon Skipping yet. 'Im not an expert, but what I understand about exon skipping is this.
Exon Skipping attempts to restore the Reading Frame in the Gene. What our boys have is large deletions in the Central Rod Domain of the gene. The deletions causes an out of frame condition. Skipping one exon in each boy will potentially restore the reading frame. For Dylan this is Exon 44, for Wyatt, this will be Exon 17, or Exon both Exons 42 and 43.
If the reading frame is restored, the theory is that a functional form, but truncated Dystrophin protien will be produced. Look up the following link...
http://www.actionduchenne.org/duchennepedia/article/15/exon-skipping
Boys with beckers can have large deletions, especially in the Central Rod Domain of the gene. but the reading frame is in place. This enables them to produce Dystrophin. I have read reports of Men with large deletions in the dystrophin gene, that were not diagnosed with Beckers until they were in thier 20's, and older.
This is the Goal of Exon Skipping....to produce a form of Dystrophin that will help our boys. Obviously, the efficacy will be different for each patient, but a limited form of Dystrophin is better than none!!!
Again, this is my understanding of what Exon Skipping can potentially do for our boys. But, I'm not an expert.
Thanks again for sending a comment. There is hope out there for our boys. I remember the day we got the diagnosis....3rd April 2009 at 3pm. We were devestated!! But there are small glimmers in light out there for us!! All we try to do is be positive...and do our best for Dylan......
Best wishes,
Damien
My daughter is a carrier and is beginning PGD. Any thoughts or advice? She is 29 also. I'm sure she would like to talk to you.
Melissa
I accidentally erased your email and now I am not sure of what it is. I am looking forward to Wednesday. I wanted to talk to you about the plans. Email me again and this time I will keep your address. Or you can call my cell at 832-573-5830. Talk to you soon, Kim
Melissa
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