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?
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".