Comment

Comment by Char Burke on March 20, 2011 at 12:21pm

Attention all the duplication mutations - I NEED You ALL to email pat@parentproject.org and ask her about what is being done for duplications.  I know that Steve Wilton - the foremost scientist on duplications can skip duplications albeit - it is harder.  But, I don't believe that he has a partner - a pharma that is working with him.  In addition, I know that myostantin is another possibility for duplications albeit that it is not a permanent fix.  There is the AAV micro dystrophin that is under way but I am not sure when that will be available.  I would like each of your to email Pat and ask her what is being done for duplications.  It is the rarer of this disease and I don't want our mutation to be neglected for forgotten.  Please do this for all our boys - I can do it but it won't mean much unless we unite as one - Her email is Pat@parentproject.org Also - pls cc me charlatte2@comcast.net THANK YOU!  Char Burke

Comment by Jennifer Kember on August 30, 2010 at 4:48pm

Sorry for taking so long to respond. David is only on Deflazacort and Calcium and Vitamin D. We do stretches and he wears AFOs at night. He loves to swim and he gets around better if he swims often.

Comment by Char Burke on January 3, 2010 at 7:44pm

Hi Jennifer - the duplication from 8 to 32 is a significant one. That's great that he is still walking. What do you have your son on besides deflazacort? Any particular stretches or therapies - water or anything else? Know any other boys with duplications? I know a boy with a significant one too - in England - and he is not even on steroids and is doing well. Char

Comment by Jennifer Kember on December 31, 2009 at 9:56am

Our son David has a duplication of exons 8 to 32. He will be 9 in February and is still getting around on his own except for long distances. He is on Deflazacourt. He does not have any learning issues.

Comment by Char Burke on December 30, 2009 at 8:31pm

I'd like everyone to log in and tell me what your son's duplication is, what he takes and whether he is still ambulatory or not. Please include things you are doing for the good to fight the DMD. Thanks. Char Burke

Comment by Char Burke on July 31, 2009 at 12:58am

I just wanted to post something very interesting. I read about a boy who is not on steroids who's 7yrs 5 months - with a duplication from 16 through 30 and is still able to hop and jump and run. Is that interesting or what? Comments welcome. Char Burke

Comment by Anthony Stoops on July 1, 2009 at 11:06am

Quinten has a duplication of 2. We have not had a muscle biopsy. He is 8 yrs. old and still gets around good. He plays baseball and loves to catch bugs, frogs and anything else he can get his hands on.

Anthony

Comment by KellyR on February 19, 2009 at 5:52pm

My little boy Aidan, aged 5.5yrs, has a duplication of exons 8 & 9. A muscle biopsy done in Brisbane, Australia, shows some revertant dystrophin fibres, but we don't know how much. Whether there are just the odd one here and there, or whether there is a percentage is something I have asked Great Ormond Street Hospital in London to find out (we moved!), but I don't know if that has been looked into yet. With regard to his progression, I have only met other dmd boys here in London, and physically I haven't yet met one boy who seems to be doing better physically at roughly the same age (4-6yrs) eg going up stairs, he can hop on one leg (after beginning steroids). But when he tires, he gets extremely tired, more so than the other little boys I have met, so we try be careful and not let him do too much without stopping him from getting out there and doing what he can.

Comment by Tanya Fleming on February 10, 2009 at 12:06pm

My boys have a duplication in Exons 53-57. They all have been wheelchair bound by the age of 8 or 9. My youngest son Justin also has ODD, OCD. I use to think he actually was autistic. But no one has comfirmed that.

Comment by Ana on January 3, 2009 at 3:42pm

My son Austin, age 10, has Duplication of Exons 53-60. I really dont know that this makes a difference with his progression or not. This is really the first time I've seen a discussion on it. He is still ambulatory, his heels no longer touch the floor, he cannot ride a bike or get up on his own from the floor. He takes Prednisone, and has since his diagnosis 2yrs ago. If anyone has any info on this deletion or if it means anything, please let me know... Thanks

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