My cousin died of ALS in 2013. I first had symptoms in early 2018 and was diagnosed with ALS on June 6, 2019. Through genetic testing I found out I have the C9orf72 mutation. When I spoke to the genetic counselor she thought i was unlikely to fall into the category of familial ALS. After the test results she consider me as fitting into the category of familial ALS. I’ve read that in rare instances the gene mutates spontaneously and is not inherited. My cousin is through the paternal line. My dad lived to 91 and never showed any signs of ALS. My cousin’s mom — my dad’s sister –died from Alzheimers.
I’m left wondering whether I’ve inherited the mutation or I’m the rare instance of spontaneous mutation. AS a result I’m in favor of all PALS having genetic testing done. My cousin’s case was considered sporadic but since we don’t have genetic test results from him we can’t say for sure. As we can’t predict which of us will be diagnosed with ALS in the future that’s why I think it’s important for PALS to undergo genetic testing.
I have three adult children and if any of them test positive for the C9orf72 mutation that will more or less confirm that I have familial ALS but whether they will be tested is for each of them their own choice.
