Latest Activity: May 19
Started by Char Burke. Last reply by dietf Oct 30, 2014.
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! My son is 3 and was just diagnosed with DMD. He has a duplication of exon 2. He is still walking and not showing any signs/symptoms. Thankfully! My brother had DMD and so I pushed for testing recently. Our Genetic therapist told me that it's a milder and common form of DMD. Is that true? My brother had the same mutation and lived until he was 35 without any support/intervention. I'm still in shock trying to find the strength to keep fighting! It's so hard to live through it all over again. A lot of open wounds and fresh ones too :(
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
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.
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