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What duplication does your son have?

Bradley has an exon 2 duplication. I'm wondering what this will mean for his progression. I'm thankful to say he is still walking at age 11. Sometimes I believe his gait is getting worse and other times it seems he is about the same. He seldom uses his wheel chair....like maybe twice per year. But I'm glad we have it on hand in case he really needs it. It is a manual so we will have to get a power wheel chair if he starts uses it often. I wonder if his particular duplication causes a slower progression. The doctor says although DMD is confirmed, he progresses as if he had BMD. I can't wait to hear Dr. Wong's opinion whatever that may be.

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Permalink Reply by Char Burke on April 1, 2009 at 12:08am

Char Burke said:

Melissa Engstrom said:
I am very new to this web site and DMD. My son was just diagnosed a few weeks ago. He has duplication of 18 and 19. I go to CHOP. I cant find any information on the deletion, or anyone who has the deletion. I have 4 boys 11,8,6 and almost 2. My 6 year old, Gabe has DMD. I dont know where to look .... to read......

Melissa - Welcome. I would start with reading this web site. There are sections on research, care, etc. These sections are in addition to the discussion units. You could also read some books from the library on DMD - just search it on their computer. One book that I liked was Moonrise by Penny Wolfson. She writes in this book about her son and their journey. There are other books as well - Intensive Care by Mary Lou Weisman. Try and talk with others who know what you are going through for support. You are not alone at this web site.....Char Burke - mom to Will, age 6

Permalink Reply by Heather Meermann on August 17, 2009 at 4:24pm

My son Grant has a duplication of exons 5-7. He just turned 3-years-old in June. Although he still gets around okay, he has trouble going up and down steps and he can't jump or run. He does love to hang from monkey bars though. We haven't started steroids yet...but probably will in about 6 months. It is nice to hear that other boys with duplications are doing so well. I will take a any positive news I can get :)
Heather

Permalink Reply by Brandy on November 1, 2009 at 11:46am

Finn has a duplication in exon 3... he is 11 1/2 and doing fairly well. we just had to come off of the deflazacort because of a terrible side effect that caused migraines and nausea-still watching to see how that will result in loss of strength however. I am curious about the duplication research that is out there right now...and I have always felt that looking at other boys, Finn had a bit easier time for his age.

Permalink Reply by kathy mcdonald on February 16, 2010 at 4:27pm

Where is the BMD area?

Char Burke said:

very interesting that Dr. Wong said duplications seem to be milder than deletions. We go to Dr. Wong too and I don't recall her saying that....albeit, Will's duplication is 54-57. I did have a geneticist from Baylor tell us that we should do a muscle biopsy b/c he was near the BMD area of the gene....We were told by docs not too...I think most duplications are generally in the 1-10 are of the gene....Did Dr. W say why the duplications were milder?
Thanks.
Char

Permalink Reply by Andrew Phillips on February 28, 2010 at 7:24pm

Hi, My partner's son has been diagnosed with DMD back in November 2009. He has a duplication of Exon 2 as well. He is 6 years old.
We are from Wollongong, Australia, and he is under the care of Prof K North at Westmead Children's Hospital. Unfortunately we have been given very little information on his particular duplication, as far as we can understand she hasn't had a boy with the same so maybe there is no reference point.
My partner Andrew attended the conference that was held in Sydney on the weekend with all the doctors and reasearches etc etc and he actual got to talk to a few of the doctors that were there on a personal level having coffee and only one of the doctors said he knew of 2 other kids in England with a duplication of Exon 2.
Any information you could share on this particular duplication would be greatly appreciated.
My partners son is still walking, albeit very slowly, he doesn't really run and we have noticed in the last few months he is slowly segregating himself from the other 2 kids when he is with us (my kids are 10 and 11). He gets very tired easily. But so far there doesn't seem to be any sort of learning difficulties or things like that. He has very poor balance.
Look forward to reading some more.

Permalink Reply by Lisa Jones on March 1, 2010 at 6:49pm

Andrew,
My son has an exon 2 duplication as well. He is going be 13 years old on the 27th. I am happy to say, he is still walking well. He does have falls and he gets tired but I feel so blessed. When he was diagnosed, we were told he would be completely dependent on a wheel chair by 12 years. Many times, I thought we were close to the non-ambulatory stage,especially when he sprained his ankle in January, but he has held on tight to his ability to walk. He is determined to keep on going. I realize there will probably be a day when his positive attitude will not be able to overcome the muscle weakness in his body but I think it's helping for now.

Andrew Phillips said:

Hi, My partner's son has been diagnosed with DMD back in November 2009. He has a duplication of Exon 2 as well. He is 6 years old.
We are from Wollongong, Australia, and he is under the care of Prof K North at Westmead Children's Hospital. Unfortunately we have been given very little information on his particular duplication, as far as we can understand she hasn't had a boy with the same so maybe there is no reference point.
My partner Andrew attended the conference that was held in Sydney on the weekend with all the doctors and reasearches etc etc and he actual got to talk to a few of the doctors that were there on a personal level having coffee and only one of the doctors said he knew of 2 other kids in England with a duplication of Exon 2.
Any information you could share on this particular duplication would be greatly appreciated.
My partners son is still walking, albeit very slowly, he doesn't really run and we have noticed in the last few months he is slowly segregating himself from the other 2 kids when he is with us (my kids are 10 and 11). He gets very tired easily. But so far there doesn't seem to be any sort of learning difficulties or things like that. He has very poor balance.
Look forward to reading some more.

Permalink Reply by Jen Portnoy on March 14, 2010 at 4:55am

frameshift insertion mutation at exon 37, nucleotide position c.5313_5314dupT resulting in a premature translation stop at codon 1772

Permalink Reply by Felix Bettelheim on March 23, 2011 at 5:32pm

My son has a duplication of exons 2 through 5. He was born in August 2002 and is doing well currently.

Permalink Reply by Janelle on April 5, 2011 at 10:40pm

Hello Claire & Kelly,

My 6 year old son also has the dup of 8&9. He takes 5ml prednisolone daily, he wears night splints, we do several stretches for hips/heels... he does not have any learning disabilities or behavioral problems. We found out by complete fluke, at his one month check up!!!

claire holloway said:

Hi Kelly, I've just read your msg and wanted to say that my boys have the same duplications as Aidan. My youngest is 6 in April, he is on prednisolone and seems to be doing fairly well. He has behaviour problems and is very hard work but also is very sweet! My eldest is nearly ten but has a teenage attitude!

Kelly Richardson said:
My little boy, Aidan, has a duplication of exons 8 & 9. He was diagnosed in Australia in May 2007 at age 3yrs 10mths with a CK level of 34,600. He then had a muscle biopsy which showed an absence of dystrophin apart from the odd revertant fibre. He started on prednisolone in Oct 07, is 5.5yrs now and on a low dose and seems to generally be doing quite well physically. He wears night splints and also wears gaitors for 30min every day. He does not have any associated learning disabilities or behavioural problems.

Permalink Reply by Mindy Cameron on April 6, 2011 at 12:29am

Christopher is 9 years old and has a duplication of exons 6 and 7. I would say his progression is absolutely average. He's been on daily deflazacort since he was 3. I have never been told that duplication boys tend to have slower progressions. I would not say that's true for us.

Permalink Reply by Kim Simpson on April 7, 2011 at 12:22pm