newly diagnosed with a cautious Becker's MD, info please

My son Ryker is 14 months old.  I just spoke with his neuromuscular specialist and she confirmed via his DNA and chromosome microarray that he has exon deletions 3-30 but the DNA test is showing that he is making minescule amounts of distrophin so she is cautiously diagnosing him with becker's but wants us to understand that by the time he is 5-7 it could change to Duchennes since he has such a large deletion and he could stop producing the small amount that he is now. She said that it is not common to find the diagnosis this young but we stumbled upon it. Has anyone ever had this before?  As I said, I just got the diagnosis today so everything is a big surreal and overwhelming.  Anyone with information and personal expierence I would beg to hear from you.  Thank you in advance.

Views: 224

Comment

You need to be a member of PPMD Community to add comments!

Join PPMD Community

Comment by Jessica Rownd on June 11, 2013 at 10:11pm
My son was diagnosed at 15 months. he is mow almost 7. He has a very large deletion also 18-41. Please message me ...I know the shock at such a young age
Comment by Brooke Lyons on June 10, 2013 at 4:20pm

Hello Amit Gupta, we had a DNA and a Chromosome microarray done.    We go back to see the doctor on Thursday, I will get more info then and hopefully have a better understanding of everything she was telling me over the phone.

Comment by amit gupta on June 10, 2013 at 2:54pm

Hi Brooke, in-frame deletions beginning in the early part of the gene are somewhat unpredictable in terms of duchenne or becker...it could be either....

Not sure how the DNA test showed the amount of dystrophin...i thought ony a muscle biopsy would reveal that?

Need help using this community site? Visit Ning's Help Page.

Members

Events

© 2019   Created by PPMD.   Powered by

Badges  |  Report an Issue  |  Privacy Policy  |  Terms of Service