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Duplications

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Latest Activity: Nov 15

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Comment by dietf on November 15, 2014 at 12:39am
I have two son with dublication on exon 39. We didnot have muscle biopsy. We have dna analysis. One is 7 and the other is 4,5. There is no signs yet. We are using steroids for the elder.
Comment by Char Burke on November 14, 2014 at 10:20pm

Just checking in with my duplication friends to see how everyone is doing.  I am struggling with the fact that my son has a duplication and won't be eligible for any exon skipping any time in the near future.  It's great that DMD boys with exon 51 are getting dosed with Serupta drug but I can't help thinking about our guys.  What is everyone following - any one taking any new supplements that are different or interesting?  I read about beet juice and that is produces nitric oxide which is part of the chemical process that muscle use.  I read about it in a magazine about health.  They gave the example of beet juice being used by an athlete and that person ran further and fast and recovered faster than any other of the athletes. 

Love to hear from the duplications - Best, Char Burke

Comment by Sherri Looper on October 20, 2014 at 12:02am

Hi Char. I don't have a son but an 11 year old daughter with duplications 8-17. Mobile, but trips and falls a lot, uses a stroller for long distances, is slower and weaker than her peers.

Comment by Char Burke on October 19, 2014 at 12:38pm

It's been awhile but I wanted to check in and see how our son's with duplications are doing.  Can you all check in - how about age, where our son is at on mobility, what he needs help with, what the mutation is.  BTW - if you know anyone with a duplication that isn't involved in the group - please invite the to join.  We need to join together and be heard.  Thank you!  Char Burke

Comment by Satish on July 18, 2014 at 1:26am
Our son 4 years old has duplication of 51-55. He is walking right now for small distance.
Comment by Cure for Carson on May 4, 2013 at 1:36pm

Our son Carson is 11 years old.  He has a duplication of 8-9.  He is still walking, jumping, tries to be very active.  He is very smart and has a quick witted personality!  I wish medicine could move at a faster pace, I am fearful that we will run out of time with Carson in his current state. I am however grateful for his abilities right now.

Comment by PAULA KERR on February 12, 2013 at 5:47pm

Hello!

We have three boys with duplication of exons 3 -7. Only diagnosed in November 2012......still struggling to put one foot in front of the other. Never fail to be overwhelmed by the kindness of strangers.......especially some of the best scientists and international experts on DMD. One professor said that duplication of exons 'run a milder course' - can this possible?? God help us all. Thank you. Best wishes, Paula

Comment by Nid Hadidi on December 26, 2012 at 12:02pm

Our son Yanar, 8 years old has a Duplication in Exon 64, he is still walking short distance and uses a wheelchair for long distance. He is unable to go up the stairs on his own. He is up on his toes all of the time and needs support from us to keep him well balanced and steady.

Comment by dietf on July 18, 2012 at 7:47am

Hi all, I have two sons. 5 and 2 years old. Both of them has DMD. We have a very small duplication in exon 39. We have elevated CK levels(around 20K). We have no problems for now, but my elder son complains about the ladders. Both can walk, jump, ride.

Comment by Daina Ajithan on July 18, 2012 at 3:04am

I am from Chennai, India and my son Viswajith is 9 years old and has Duchenne muscular dystrophy. He is having duplication of exons from 8-44. We had his blood sequenced from the UTAH univerisity for Genome studies. Right now he is on Deflazacort 6mg and Calcium and Vit.D3 supplement. He is having is physiotherapy regime regularly. He is ambulatory now. He is able to walk but very slow and run a lit bit. He doesn't have any other issues but only finds learning language very difficult. 

 

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