My son was recently diagnosed with DMD. Had a conversation with a genetic counselor. Wanted to get more specific info regarding his test results. I was hopeful a little bit because there was a chance that my son could use a trial drug for exon 51. Per the paper I got he was skipping 51-55 ;
I was told that its actually skipping 50... I may be translating it wrong but basically if the two drugs that are up for review by the FDA were approved, my son would not be able to use it. It would totally be awesome for other boys would benefit.
I am still hopeful about the whole genetic editing with the CRISPR tool, but I am sure that is about 20 years away. I am just going to relax until our 1st appointment on the 8th.
Family, lets stay encouraged!
Hi Jay, pleased to "meet" you, just sorry that it's under these circumstances. You seem to be keeping as upbeat as one could possibly be (but it's okay not to be okay too, at times). I call that "variety of emotions" the roller-coaster.
There is a lot to learn, especially at the beginning, so give yourself a break and some time. Also remember that you and your wife may be processing all this in different ways and not always on the same timeline, which doesn't mean one way is better and one way is wrong, but just different. You are just both doing your best, which is all any of us can do.
Your first apt. on the 8th might be a blur, so I suggest writing down your questions ahead of time so you don't forget.
I wish for you a peaceful Christmas time with your family, Andrea