Jennanne
Active member
- Joined
- Oct 25, 2016
- Messages
- 39
- Reason
- CALS
- Diagnosis
- 12/2016
- Country
- US
- State
- New York
- City
- Buffalo
My husband Jon just received his confirmatory bulbar ALS diagnosis at the University of Rochester today. He has 3 relatives on his fathers side (2 female first cousins of his father and a child of one of the cousins) who had ALS. My mother in law does not have specific details, but knows they went through testing at Northwestern (this would have been at least 25 years ago). Of note, my father in law was an only child and my husband is the youngest of 5 and none of his brothers have ALS.
Our neuromuscular specialist in Buffalo recommended not testing due to the fact that there was "nothing that could be done". The one we saw today in Rochester had a different opinion. He thought that since my father in law was of Scandinavian descent, there is a SOD1 mutation (?) which is linked to a high prevalence of ALS in the Scandinavian population.
He also said there is currently a multicenter trial (Emory, Johns Hopkins, Mass General) that is recruiting which he may be able to participate in.. The study looks like it is recruiting for sporadic and SOD1 (he showed it to us on clinical trials.gov).
Any opinions on testing vs not testing?Clinical trials? Also, does insurance usually cover testing? Thanks so much, also my apologies if my post is confusing, the past few months have been a whirlwind.
Jenn
Our neuromuscular specialist in Buffalo recommended not testing due to the fact that there was "nothing that could be done". The one we saw today in Rochester had a different opinion. He thought that since my father in law was of Scandinavian descent, there is a SOD1 mutation (?) which is linked to a high prevalence of ALS in the Scandinavian population.
He also said there is currently a multicenter trial (Emory, Johns Hopkins, Mass General) that is recruiting which he may be able to participate in.. The study looks like it is recruiting for sporadic and SOD1 (he showed it to us on clinical trials.gov).
Any opinions on testing vs not testing?Clinical trials? Also, does insurance usually cover testing? Thanks so much, also my apologies if my post is confusing, the past few months have been a whirlwind.
Jenn