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Duplications

Members: 61
Latest Activity: May 4, 2013

Discussions

Is it dr Kevin Flanigan`s research hope for our boys with duplication?

Started by Dalibor Randjelovic. Last reply by Dalibor Randjelovic Feb 2, 2013. 3 Replies

How are your son doing with duplication(S)?

Started by Char Burke. Last reply by Nid Hadidi Dec 26, 2012. 12 Replies

trial readiness

Started by Char Burke. Last reply by Char Burke Dec 18, 2012. 6 Replies

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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. 

Comment by nicolas rihs on March 23, 2012 at 10:37am

Our son Luc is 8 years old and has Duchenne muscular dystrophy. 12th exon duplication (both exons 12 side by side). There is a new mutation. Luc participate now in a study with metformin and L-arginine with Dr Fischer in Basel. He takes not cortisone.
We have sent a skin cell culture to Steve Wilton.

Comment by Jamie Larsen on March 21, 2012 at 10:24pm

My son, is almost 4, he has duplications of exons 45-61. He was just diagnosed at the end of Jan. He was late on all his "milestones", can't run or jump, falls often, can do stairs but prefers to do them on his bottom because his knees give out, stutters, seems to have OCD tendencies and is a little slower of a learner. We most often have the double stroller with us because we also have daughters who are 5 and 2. Our 2 year old is going to be a track star so we have to contain her and our son and older daughter often alternate turns in the stroller. He was actually diagnosed because we took him to a neurologist when he started having seizure like "episodes". They were never actually diagnosed as seizures because he never had them in front of any medical professionals, they did not find a cause for them, and they gradually went away. When they happened he would get stuck on a word repeating a syllable 30-40 times, his body would stiffen and freeze, his head would tilt to the side, he would stare off in space and was unresponsive. Has anyone else ever seen this type of thing in their sons? The Doc says that it's unrelated but my gut tells me that that maybe it's related.

Comment by Megan Knight on November 6, 2011 at 5:53pm

My son, who is 4 almost 5, has duplications on exons 56-63.  He is still doing very good with running and other things which I suppose is expected at this age.  I always wonder how well other kids walk around this age because we take strollers and the wagon when we go places, but Liam walks just about everywhere still, and only very occasionally does he need a break.

Comment by Char Burke on November 4, 2011 at 10:45pm

Wow - Jennifer - your son has a duplication from 8-32 and it's 10.5 years old and is still walking!  Wow - that is amazing.  No learning issue either.  Amazing.  Char Burke

Comment by Jennifer Kember on September 28, 2011 at 12:25pm
Our son David has a duplication of exons 8 to 32.  He is 10.5 years old and is still walking.  He uses a wheelchair for long distances and we help him with stairs.  He has no learning issues.
 

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