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Jennanne

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Joined
Oct 25, 2016
Messages
39
Reason
CALS
Diagnosis
12/2016
Country
US
State
New York
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
 

lgelb

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Moderator
Joined
Nov 5, 2009
Messages
7,332
Reason
Lost a loved one
Diagnosis
09/2009
Country
US
State
WA
Hi, Jenn, sorry to welcome you here.

That trial is based on some decent science and I would get him tested for SOD1 as well as the other known genetic ALS variants.

Insurance should cover testing in particular since a trial is underway. The doc ordering the test will have to document the purpose and actionability of the result.

Best,
Laurie
 

Jennanne

Active member
Joined
Oct 25, 2016
Messages
39
Reason
CALS
Diagnosis
12/2016
Country
US
State
New York
Thank you Laurie, I posted a few weeks ago in the "newly diagnosed" section while awaiting our second opinion which we now have. Jon and I talked last night and we are going to move ahead with testing. It looks like the SOD1 arm of the study shows quite a bit of promise!

AK, yes that is the trial! Our MD yesterday was amazing, after he delivered the blow that we were expecting (confirmation of the original diagnosis) he sat down with us and went through all the trials available. It looks like even if Jon is sporadic, we can still pursue it. We have family in Atlanta, so I am going to give the study coordinator today at Emory. I did see that Toronto is also a site, but it looks like they are not recruiting yet. They would be the closest to us, we are in Buffalo, NY only about an hour and a half.

Regards,
Jenn
 

AKNate

Distinguished member
Joined
Oct 25, 2016
Messages
179
Reason
Loved one DX
Diagnosis
10/2016
Country
AUS
State
NSW
Let me know in the other thread if you have any questions about the trial, we've spoken to the researches & have the consent form if you want to have a read. We have a call with Dr Atassi in a few weeks too. I prob won't know much but sometimes it's nice to talk to someone who's doing similar things to you :)
 
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