Anyone out there with this one? Haven't met anyone yet. Just posting again.
My son has deletion in 21 exon as yours, is it true? I tried to find somebody with such deletion but couldn't.
We are from russia, my son is five. How did the deasese start in your case? It'll great to receive your answer
My son is 6. His name is Alxsandr. This autumn we are going to start steroids. Now he is rather mobile, but of course not so quickly as other boys. he can\t jump and run. What about your son? Is he on steroids?
The desease started since his birthday, he always was weak (especiaaly arms)
Hi everyone, My son Nicky has deletions of exons 2-21. We live in Alaska, so there isn't a huge amount of Duchenne patients locally. I am a bit confused because I e-mailed one of the Genetic specialist that spoke in the webinar about exon skipping to ask her if there were any current clinical trails for deletions in the 20's, and she told me that she thought my son's deletion was an "in frame" deletion. That doesn't sound right though, because at 4 years old, he sometimes has great difficulty getting up from the floor, or getting up on the couch, and he can't really run at ALL. So I don't know if the testing was off, or what, or it it even matters at this point...any thoughts?