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 6Melissa 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......
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?
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.
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.
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.