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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 Kimberly Damron on August 6, 2008 at 8:38am

My son has a duplication of exons 2-30. This is almost half the exons. Has anyone heard of progression based on the amount of exons involved. I am assuming I am reading the results right because where it says exons affected it says 2-30. No one has explained much about the genetic test. Any thoughts on this would be appreciated.

Permalink Reply by Char Burke on August 10, 2008 at 2:06am

I have seen an article about duplications recently when Googling duplications and DMD. It talked about an Italian group of boys - who had 3-40 and they were going ok. Try and google this. Char Burke

Permalink Reply by Jacqueline Smith on August 15, 2008 at 6:37pm

My son, Zachary has a duplication of #43. He stopped walking at age 11. He had spinal fusion surgery at age13 by Dr. Do at CCHMC. She is wonderful by the way. He is now 14 and he has not lost any upper body mobility. He still throws a football, plays tennis, and can whack a wiffle ball two doors away.

Permalink Reply by Isabel Cubas on October 20, 2008 at 11:59am

My son has a duplication of exons 8 thru 12. His CPK level at age of dx, (3/12 years of age) was over 28000. He is 7 years and 3 months now. Still ambulatory but falls often, uses Gowers manoever in a pronounced way, calves are very enlarged. He has started to tip toe somewhat. He is not taking any medication except for multivitamins. He is bright but needs extra attention and reinforcement for learning. He goes to second grade now. Is there anybody out there with the same duplication?
Heart and respiration are unaffected so far.

Have a good day your all!

Isabel (mother to Andre - DMD)

Permalink Reply by Joshua's mom on December 1, 2008 at 4:44pm

Hi Isabel,
Joshua has the same duplication! He is on deflazacort and an assortment of other supplements. He turns 6 in February but is doing well thus far. His one leg is a little larger than the other but is not really noticible unless you were looking hard. He does need some direction in kindergarten to keep his attention on what he is supposed to be doing, but is physically good. He participates in gym class and stops if he does get tired or his legs start to bother him. When sitting in class for a long time his legs cramp, but his teacher allows him to get up and move or walk for a couple of minutes to loosen up. Joshua too is unaffected by his heart and lungs.

Take care,
Naomi

Permalink Reply by Ana on January 3, 2009 at 3:47pm

Austin is 10, he does have a power chair, and uses it every day at school and going to friends' houses. He is still walking, but has a hard time sometimes. He cannot get up from the floor alone now, and has not been able to ride a bike for 2 1/2 yrs. Austin has Duplication of Exons 53-60.

Permalink Reply by Mindy Cameron on January 4, 2009 at 4:40pm

Our son Christopher has duplications of exons 6 and 7. He is now 7 and has been on deflazacort since he was 3. I think he walks reasonably well although we limit his activities and he rides in a big stroller when we are walking any distance. He is also on CO Q10, vitamin D, protandim, and arginine. We just got back from a visit to Cincinnati and the team was pleased with his appearance -- no weight gain or bone density problems for a child that has been on steroids for so long. They were also happy to find that he had grown in height and is still in the 50 percentile range for his age. They did think he was quite weak and his ankles and one wrist were tighter. He wears splints every night but he is resistant to stretching. Gotta make stretching a priority in the New Year. Have never heard that duplications might indicate slower progression. I have heard that boys with associated learning disabilities might be of faster progression. This is a worry as Christopher is "developmentally delayed" to the point that he is in a special needs class at school. I do wonder if his learning disabilities and behavioral issues are linked with the steroids. Can't do much about that though because there is no way that he is coming off of the deflazacort! They did mention that we should get our first wheelchair as the stroller was age inappropriate. That kind of freaked me out as I didn't think we were ready for that step. Our cardiology results were also superb -- no signs of any weakness or fibrosis. I do wonder about heart meds though.....I would rather do "prevention" than wait for problems to appear.

Permalink Reply by KellyR on January 25, 2009 at 4:25pm

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 claire holloway on February 22, 2009 at 12:41pm

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 Char Burke on March 18, 2009 at 12:11am

Kim Simpson said:

Austin has a duplication of exon 46-47. He is 11years old and is still walking. He is doing very well. He also goes to see Dr. Wong in Cincinnati. I am glad to here what Dr. Wong said that usually duplications have a slower progression.

The medicines that Austin are taking are Deflazacort, Lisinopril, Stratera(for attention problems), C0q10, Omega 3,
Calcium, Vitamin D, and a multivitamin. I think that these medicines have a impact on how good he is doing also.

Hi Kim - I am wondering if you have found the Statera to be of any help. We are looking at ADD and are just wondering what is best for our son.
Thanks
Char

Permalink Reply by Kim Simpson on March 24, 2009 at 2:25pm

Hi Char,
Strattera does help Austin with his attention. When he was in the 3rd grade I had to pull him out of private school and homeschool him because he was just sitting there and not doing his work. I homeschooled him that year and put him on Strattera. I could really tell a difference. Then this school year I put him in private school again and is doing really well.

Permalink Reply by Char Burke on April 1, 2009 at 12:01am

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......