Replies to This Discussion

Permalink Reply by Kari on June 5, 2008 at 10:00pm

I agree-it feels like everyone has a deletion and duchenne. My son has becker and duplication of exons 27-28 which is also what I have as a carrier. I have not been able to find a similar duplication as of yet and no one to dicuss Becker MD. I am quite frustrated but also feel blessed since they believe this to be in frame and milder. Let's hope.

Kari

Permalink Reply by Lee Ann Faeth on June 7, 2008 at 12:25am

Hi Char,

My son Avery has a duplication of exons 3-7. (I think we had this discussion recently on the other board.) I don't have any physical comparison because I have only met two other young boys with DMD/Beckers, (Kari's son being one of them) but I do believe he is doing quite well so far. While I really do wish that there was research focused on duplications, I believe that the research has to start somewhere, so I am hopeful that it will soon translate into better treatment and ultimately a cure for boys with duplications as well.

Permalink Reply by Julie Garcia on June 14, 2008 at 2:15pm

Hello:

My son, Nick, has a duplication of exon 3 and 4. He lost the ability to walk at 15 years of age. He can still transfer from chair to chair. He is 16 years old and on steriods. At this time his care is managed mostly by Brenda Wong.

Exon skipping may help duplication if your child is out of frame. I follow Steve Wilton's research since it is in the beginning of the gene. Steve is wonderful and doing all he can to help our children. You will find most of the researchers in the field care and are doing all they can.

There is also ongoing research to find a combination of drugs (cocktail) to benefit all the children.

We just need to do what we can to help push the research forward, like fund raising and advocacy. I try to do some fund raising with my work. I go out and talk about PPMD to gain contributions for our "Campaign for the Community" which is like United Way. It raises some $$ but it also raises awareness and educates people. It also puts people affected by dmd in touch with PPMD. I also do all I can with the advocacy piece. I am still following and pushing for the MD Care re-authorization act.

All the best everyone!

Julie
Sacramento, CA

Permalink Reply by Gina Manning on June 17, 2008 at 11:53pm

My son Craig has a duplication of exons 10-11 he is out of frame. I am being re-tested to see if I am a carrier. When I was first tested they did not do testing for exons 10-11. The waiting is so hard I won't hear anything until August.

Permalink Reply by Char Burke on June 18, 2008 at 11:57pm

Jeanna - A test for duplication does take some time. I didn't think it took 6 wks though. I know we live in Seattle and the neurologist didn't order the deletion and duplication tests to be done at the same time. The deletion test came back negative - that took a month or two. Then, he ordered a sequencing test and that took 4 months. I emailed the test results to Dr. Wong and she pointed out that the neuro didn't do the duplication test. I called the neuro here and he argued with me that it had been done. He eventually called me back and told me I was right and we had the duplication test done. His office was supposed to call me when the test results were in. By that time, I was so frustrated that I made an apt. with a surgeon and the surgeon was the one who gave me the results - stating he couldn't explain them and the neuro was out of town. I knew the answer though when I read exons 54-57 duplication. So, I do understand your frustration. I really, really do. Try and not worry about it until you have the results....or well, try and keep busy.
The good thing is that your son's young....and that means you have time....
Take care,
Char

Permalink Reply by Char Burke on September 17, 2011 at 12:09pm

I would like to slightly change this since I forgot that we did list the duplications.  Instead - list how old your son is & how he is doing and what you are doing for him RX and therapy and educational wise.  That would give us some good info to share.  Thanks Char

Permalink Reply by Daina Ajithan on July 18, 2012 at 3:19am

Hi Char

I am from Chennai, India. My son Viswajith is 9 yrs old and is having Duchenne.. He is having duplication of exons from 8-44.

He is on Deflazacort 6mg and calcium and vit.D3 supplement. He is having his physiotherapy regime regularly. He is able to walk but with a wadling gait. At time he seems to be clumsy but at other times he is doing fine. He is going to a regular school. We are showing him to Dr.V.Viswanathan, who is a very close friend to Mr.Eric Hoffman. Had a chance to meet up with Mr.Hoffman when he had come to chennai for a conference held by Muscular Dystrophy Association India, Chennai named MYOCON. Also met other eminent persons like Dr.Kate Bushby, Dr.Gunter et.. Came to know from Dr. Kate Bushby that there are no research going on for Duplications..I think it is high time they start research for duplications cos came to know from this community there are quite a few children who have duplication of exons.....