-
New here
Hi!
I’m new to SMA (though not really, I guess). I have numerous other medical conditions that have some overlapping symptoms and all of my issues have been assumed to be something else all my life. But despite treatments and surgeries, which helped some things, they didn’t help others. Recently, my daughter’s neuro did WES on her and compared mine and found I have a homozygous SMN1 mutation (this was after 2 geneticists missed it because it wasn’t reported by the lab!) Apparently, it is a known but rare mutation and my presentation is mild though I am quickly losing the use of my legs. The neuro and my geneticist say it makes sense with my history. I’ve been waiting a while to get in with Dr Sumner at Hopkins for someone help manage it. I see her on the 17th.
Anyway, I’m hopeful that I will be able to finally get some help and get out of my bedroom! Thanks for having me! 🙂
Robin
Log in to reply.