Way to go! Well done! It's such a shame that such a tiny piece of an exon can cause such a devastating disease. I studies molecular biology in undergrad so I know exactly what one point mutation can do. I'm hoping we can find a way to effectively treat it the near future!
!DHEDGE
I know! One small and seemingly insignificant mutation can cause such a huge amount of havoc on the body. I’ve never formally studied anything around biology or genetics since finishing high school, but have read a heaps of books since we got his diagnosis. Fascinating stuff, but difficult to digest when it’s so close to home.
I’m not even sure how they begin to search for treatment or a cure, but I’ve got an idea for a fundraiser I’d like to run this year. I’ve been wanting to formally launch it - even got a logo made and created a Discord server for people who’d like to support it. I’ve written a launch post and deleted it about four times. Concerned that people won’t get behind the idea.