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BillH

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Here is a gene question that my brother asked the last time we visited and I had never thought of it before.

Like a lot fALS families, I think we all share that thought "I wonder if I have it?" Before my Mom's onset and before she passed away in 2001 she was tested because it was obvious we are a fALS family. At that time our family gene wasn't identified and her tests for the genes known at the time came back negative. She went for a time thinking/hoping that she would not get ALS. I think some in our family misunderstood that. Years later the family gene was ID'd and a few family members were tested, most were not. There were a few positives and a few negatives, as you would expect. And there are currently 4 in the family who are diagnosed.

Now, my brother's question... if there are more than just a few genes associated with ALS, and if not all are known yet, is it possible there could be two genes running in a family? Has anyone heard of such a thing? I haven't, and that is what I told my brother, but also said I'd toss it to the forum and see if anyone else had any input.

Sometimes the fear of ALS runs deep in fALS families, and even having a negative genetic test doesn't always alleviate it.
 
There are definitely people with c9 who also have another defect. I know of someone who had c9 and FUS and someone else whose second defect I can not recall. It was not yours I am sure. It would also be possible of course for one parent to give sod1 and one c9 say but that family would presumably know they had issues from both sides.

I have not heard people with other mutations report this but that does not mean it does not happen. Does your family work with any of the genetic studies? It would be interesting to ask someone like Nailah Siddique
 
Thank you Nikki. Yes I think a few of the cousins in another state are connected to TDI but that is the only one I'm aware of. My brother is more in touch with them than I am so I'll point him to them and see if he can track down more information that way.

Does your family have these fears too Nikki? I think his pessimism towards his own negative result comes more from the fatalism some fALS family members can get stuck in.

Just a caution to anyone reading this and contemplating genetic testing at a young age or without onset symptoms... you may not get the relief you think you'll get if you test negative... nobody thinks they will feel guilt, or disbelief, but it does happen. Humans - we're complicated.
 
I mildly worried about having 2 things but since I was positive it is different than being negative and wondering. No one in my family has tested negative but most are unknown

I am not sure anyone at tdi has the expertise to answer this but if you do get an answer let us know. I am in the tdi study and they test for many of the defects ( not c9 though). I tested negative for all the things they did look at. That made me not really worry any more about multiple genetic defects in our family though of course there could be another not tested or one I did not inherit
 
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Thanks again Nikki. My Mom's test was from Athena back in 2010 and it only included 5 genes, with only the one showing positive. I never gave it much thought until my brother mentioned he doesn't trust his "negative" result. I'll tell him to track some of the cousins down and see if they have anything to add.

Personally, I will wait to be tested until I have a neuro tell me he wants to test a bunch of other things to figure out what's wrong with me... if and when that day comes will be soon enough for me to know.
 
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