Exon 20?

Replies to This Discussion

Permalink Reply by Nupur Patel on November 17, 2010 at 10:21pm

Hi ,my son has exon 21 deletion.

Permalink Reply by Patti Frank on November 17, 2010 at 11:40pm

How is he doing Nupur? Are you in the U.S. or India? How old is your son. Please tell me more. I'll check back again tomorrow as it is very late and I need to sign off. My son had a fracture in his arm Friday and we've been very busy since. THanks for responding. I'd like to know more. My son is 11.

Permalink Reply by Nupur Patel on November 18, 2010 at 1:10am

My son is 6 yrs old and is doing good. We live in U.S. He was diagnosed in feb 2008.I am sorry to hear that your son had fracture..Tell me something about your son. My best wishes to him.

Permalink Reply by Katerina on June 24, 2011 at 9:24am

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

Permalink Reply by Nupur Patel on June 24, 2011 at 5:36pm

HI Katerina, yes my son has exon 21 deletion.His gross motor development was delayed.Please tell me about your son. Does he take steroids?My son is going to be 7 in this July.

Permalink Reply by Katerina on July 11, 2011 at 7:53am

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)

Permalink Reply by Moria McMillen on May 3, 2012 at 12:25pm

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?