Latest Activity: on Monday
Started by Char Burke. Last reply by Ana Oct 19.
Started by Dalibor Randjelovic. Last reply by Dalibor Randjelovic Feb 2, 2013.
Started by Char Burke. Last reply by Nid Hadidi Dec 26, 2012.
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.
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
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.
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
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.
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.
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.
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.
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.
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