Just looking to find out more about this deletion. If anyone has a child with this deletion I would love to talk to them. It has been almost 3 yrs since my son was diagnosed and I am just learning so much and want to know as much as possible about this disease. I feel like I am coping better by learning more. So if anyone has info on this deletion I would love to hear from you.

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My son has the same deletion. He was diagnosed 7 years ago but for the first 6 years, we did not know where his deletion was due to less than ideal medical care. I am just learning about this particular deletions but know that it is the hottest area of research. I have been told that the European Clinical Trials for Exon Skipping of Deletions 45-50 will move into the US in the next year or so. This gives me hope. What do you know?
I really don't know much about the whole deletion thing. Just figured if I found someone else you had a child with this I could compare it to my sons progression. Nick is 9 and still walking on his own but with some difficulty.

Deirdre Stinchcomb said:
My son has the same deletion. He was diagnosed 7 years ago but for the first 6 years, we did not know where his deletion was due to less than ideal medical care. I am just learning about this particular deletions but know that it is the hottest area of research. I have been told that the European Clinical Trials for Exon Skipping of Deletions 45-50 will move into the US in the next year or so. This gives me hope. What do you know?
Hey, My son has deletions in that area. I am thinking they are doing research to find out more about how a particular deletion can effect them in which way. My son is 13 and was diagnosed September 2001-officially. How old is your son? Not to get too personal, but I was kinda hoping to compare notes about his symptoms and other issues that you have come across.
My son is 9. He is doing well so far. He still walks on his own but is getting weaker. He cannot get up steps or the curb at school without a struggle. I don't mind discussing our son's symptoms and comparing notes.
Dina
Brandon quit walking shortly after his 10th birthday. At age 9, he was really struggling to keep on his feet, but he was SO HYPER he just kept going. We pushed him for a while to keep going, but then we finally just let him make the decision to use his chair. He was a very happy kid in that chair too! It was a manual quickie wheelchair. It was like he was a whole new kid in it.
As far as other things about Brandon, well there are many things that I have always thought were somehow related to the DMD, but as of yet, the only one study I actually found possibly attributes them to DMD. It said that around 1/3 of the boys with DMD will have developmental delays in processing information, (math) and theory (science) type things. Brandon continues to have a hard time in those areas. Brandon has a few developmental delays. They are EXTREMELY MILD and most folks would never know. We attributed them for a while to his disruptive behaviors and lack of paying attention in class for years.
Up until he was in 4th grade, Brandon was a handful! He got suspended or wrote up often. He would have random and frequent violent out burst with out being provoked. He used to be WILD! We finally found a great doctor (psych) who listened and was able to get him on a med combo that worked quickly. His official diagnosis was bi-polar, oppositional defiant disorder, and severe ADHD. He is now very mellow and easy going. He has a new doc (we just moved to El Paso) who is "changing" up his meds. He swears that Brandon has only ADHD (other than DMD of course) and is taking him off of 90% of the meds he has been on for years. Its scary, but its been almost 2 months and I have not seen any big changes YET!
As far as his heart, he has been diagnosed with cardiomyopathy for at least 2 years. He has not started an ACE inhibitor yet, although I think it will be coming within 2009. His lungs are good and functioning at the low side of normal for a 13 year old. He must use a bi-pap to sleep at night due to his oxygen saturation dropping so low at night due to his severe apnea.
Something I have ALWAYS found odd about Brandon is his intolerance of things "touching" him (such as a clothing tag, jewelry, etc). He has a low frustration tolerance, and a low pain threshold. He is EXTREMELY sensitive to sound. I guess I am just curious as to if others have/had similar "little things".
My son doesn't like things touching him either. He hates tags on his clothes and such. He does however do well in math so far. He has had his fair share of outbursts at school and home. But we just try to get him to regroup. It seem that since we told the class about muscular dystrophy that he is feeling relieved. He still gets angry if he can't get out of the car without a fall. Also he seem to have a bot of ocd behavior. He recently has been lining up things in his room and if something is out of place he must fix it. But maybe its a control thing. I don't know.

MommaToo said:
Brandon quit walking shortly after his 10th birthday. At age 9, he was really struggling to keep on his feet, but he was SO HYPER he just kept going. We pushed him for a while to keep going, but then we finally just let him make the decision to use his chair. He was a very happy kid in that chair too! It was a manual quickie wheelchair. It was like he was a whole new kid in it.
As far as other things about Brandon, well there are many things that I have always thought were somehow related to the DMD, but as of yet, the only one study I actually found possibly attributes them to DMD. It said that around 1/3 of the boys with DMD will have developmental delays in processing information, (math) and theory (science) type things. Brandon continues to have a hard time in those areas. Brandon has a few developmental delays. They are EXTREMELY MILD and most folks would never know. We attributed them for a while to his disruptive behaviors and lack of paying attention in class for years.
Up until he was in 4th grade, Brandon was a handful! He got suspended or wrote up often. He would have random and frequent violent out burst with out being provoked. He used to be WILD! We finally found a great doctor (psych) who listened and was able to get him on a med combo that worked quickly. His official diagnosis was bi-polar, oppositional defiant disorder, and severe ADHD. He is now very mellow and easy going. He has a new doc (we just moved to El Paso) who is "changing" up his meds. He swears that Brandon has only ADHD (other than DMD of course) and is taking him off of 90% of the meds he has been on for years. Its scary, but its been almost 2 months and I have not seen any big changes YET!
As far as his heart, he has been diagnosed with cardiomyopathy for at least 2 years. He has not started an ACE inhibitor yet, although I think it will be coming within 2009. His lungs are good and functioning at the low side of normal for a 13 year old. He must use a bi-pap to sleep at night due to his oxygen saturation dropping so low at night due to his severe apnea.
Something I have ALWAYS found odd about Brandon is his intolerance of things "touching" him (such as a clothing tag, jewelry, etc). He has a low frustration tolerance, and a low pain threshold. He is EXTREMELY sensitive to sound. I guess I am just curious as to if others have/had similar "little things".
My son, Nixon, sounds just like Brandon in a lot of ways. The math for sure and reasoning, like writing his ideas down a piece of paper or understanding how events correlate. Nixon is 11 and has used a wheelchair for 2 years. He also has diabetes and ADHD. He's never been hyperactive but can't focus to save his life. His psychologist diagnosed him with a short term memory defecit and feels it is directly related to DMD. We've tried alot of things to improve his short term memory and the best has been neurofeedback/biofeedback. We haven't done it in quite a while but plan to start again soon because Nixon is having a hard time remembering multiplication facts. Nixon started on a beta-blocker about 2 months ago for tachycardia but otherwise has normal cardiac and pulmonary function. Oh, the frustration factor is huge...he gets frustrated very easily!! Interestingly enough, my other son with (not DMD) hates for his clothes to touch him and hates loud noises so I have always attributed that to ADHD.
Out of interest, are any of you guys getting involved/have you considered getting involved with the exon 51 skipping trials when they start to the US? The results in the UK have so far been pretty promising. My little boy, Seth, is too young (18 months) to be enrolled unfortunately. He has deletions of 45 - 50 also.
Grandson has this deletion

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