C9 Question

Bry2k200

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Jun 22, 2022
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I have a question regarding the C9 mutation that wasn't answered in the Familial ALS FAQ section. My mother passed away last year from the "devil's disease" and tested positive for the C9 gene. I completed genetic testing and I was fortunate not to have the mutation. My sister was too afraid to get testing done and wanted me to go first. She's now going for testing and I'm very worried. Is it likely she won't have the gene if I don't have it or does this not mean anything at all?

P.S. I effen hate this disease, it took my mother from me far too soon and I hope they find a cure tomorrow for each and every one of you.
 

Nikki J

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Your results don’t make it any more or less likely that she will be positive. every child has a 50 % chance of inheriting a mutation like c9. I hope your sister is also lucky
 

Ken15

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An alternative choice for your sister: she does NOT have to get tested (and/or receive the results).

If it fits her emotional demeanor, she could continue to live her life ALS-free and IF she begins to develop symptoms, she knows exactly what to do.

As background, my PALS had the C9 mutation and we have 4 children (30's and 40's) and 8 grandchildren. At the time of her diagnosis (2017) and after talking to an ethicist, we advised our children to continue to live their lives and not dwell on the mutation. Our children were all tested as part of the Mayo's research into C9; to my knowledge, none have requested results.

Best wishes to your sister.
 

Bry2k200

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Lost a loved one
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00/0000
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CA
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MB
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Portage La Prairie
THanks for the reply Ken15. My sister is going to get the testing done, we're the type of people who need to know, and this morning I just found out another brother of my mother has both dementia & ALS (her eldest brother was the first to pass from ALS). She has one more brother who's 74 this year and is not showing any symptoms and he refuses to get tested. I hate this disease.
 
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