From our poll results so far, doesn't look like a lot of fALS here.
Yes my 1st neuro diagnosed me with ALS Dec 2011 and recommended getting a 2nd opinion. Got my 2nd opinion in Hawaii. Decided to go to the UCSD neuro in Calif for a 3rd opinion because I didn't believe I had a terminal illness, just some weakness in my legs and twitching.
So I had actually put the diagnosis of ALS on the shelf for about 6 months, denial I guess. That was kind of a good thing. I didn't do the Athena panel until July 2012.
I think the doc really didn't want me to get to hung up on coming up neg with the genetic testing. Since most FALS/PALS are not tested these researchers are extrapolating the data. Kind of makes you wonder how accurate the statistic of 4-5% of sALS have the c9orf72 gene mutation.
Some of the earlier research I was reading about FALS
1993 discovered the SOD1 affecting 20% of FALS
2001 discovered the Alsin (TDP-43. FUS,ODTN, VCP etc.) combined affects about 10%
2011 discovered the c9orf72 affecting 20 - 30 - 40%? FALS and very exciting affects SALS.
I'm in that 30% with a defective gene not discovered yet.
Not real sure what it would take to have the medical community test all PALS for the c9 mutation.