I am just peeking over from 2nd tri and noticed this post and felt compelled to add my experience of this debilitating disease. Sorry this may be a long one... SMA is something which is very close to home. It is true, very few people have heard of it but it is more common than we realise. My BIL is living with SMA and he is one of the very LUCKY ones. His is type III, considered very mild. He is still living at home and is wheelchair bound. He has full mental function and is extremely intelligent, however his muscles are wasting away. He can just use the mouse these days and mainly uses voice activated software for his PC. He did have a full active life before he got really bad, so some children do survive into adulthood. He just had to use his chair and has a specially adapted house (lifts etc). The risks to my dh and I are more real than I can put into words. There is a 1 in 4 chance that IF I am a carrier of the defective gene that we will have a baby with SMA. We discussed it and decided that we didnt want to know if I was a carrier. We have had 2 children together so far, neither of which have SMA. #3 is on the way, so I do wonder if our luck will run out. My heart goes out to your friend and their family. I am so sorry, there is nothing that I can say or do to ease their pain and distress.