Familial ALS

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New member
Jun 13, 2021
Loved one DX
I’m a 35 year old woman who just lost her wonderful 77 year old mother to ALS. She began showing symptoms a year before her death. Once she became sick, it has come out that some other family members on her father’s side had ALS. I was told her father (my grandfather) died of 83 after a short decline with dementia (he did not formally have ALS but I’m suspicious) and I was told my great grandfather also died of dementia (I’m not sure of his exact age but it was 70s or 80s). Although I was suspicious there could be a genetic link it was not until yesterday when a second cousin of my mom mentioned his mom had ALS that I became convinced it is familial.
Now my mother is dead and there are no other living relatives with the disease so there is no option to test an affected person . Even if she had a known gene I’m not sure knowing my status is knowledge I could live with. I have 2 young children and am currently pregnant. I know when my children reach adulthood it is information i will have to share for family planning purposes but it breaks my heart to burden them with that news. I lived the first 35 years of my life in ignorance and would do anything to go back to that state. I’m a physician and a “worrier”. There are moments I can really put it out of my head, and some I can not.
I’m not sure what I’m looking for by posting but I guess I just wanted to share my story and my concerns. They weigh very heavily on me.
I am sorry about your mother. I am not sure it is as clear as you think that this is absolutely autosomal dominant genetic. I think the connection with the two ALS cases is fourth degree relative? You would be unlikely to find a geneticist or neuromuscular physician to say oh yes FALS. Coincidences do happen . A relative of mine lost their mother to FALS and a paternal first cousin once removed to SALS . ALS is not that rare sadly.

the dementia cases appear quite elderly and as you know the incidence of dementia and Alzheimer’s in elderly is very high. Maybe this is all connected but I think there is a more than decent chance it is not.

there was a recent paper on a project that did genetic testing on PALS who had relatives that had ALS, ALS and dementia and dementia alone. The results surprised me as the percentages of PALS with genetic mutations were lower than I thought they would be

your mother was also old for FALS onset. Not impossible but less likely. And worrying about your children’s children? ALS will be curable and FALS preventable long before then
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Thank you very much for your quick reply Nikki, I really appreciate it. I watched the video from the genetic counselor you posted and have realized how complicated it can be to test someone when the mutation (if there is one) is unknown. What do you think the best way to stay connected to the community is? I’m hopeful that there will be advances in FALS technology/therapy and would like to stay In the loop.
Thank you again.
There is much in the pipeline right now. Including a prevention trial for SOD1 and a strong hope/ expectation of approval for tofersen to treat SOD1 in the next 6-12 months. More trials in progresss. Research ongoing. studies on genetic carriers and those considered at risk. Biogen, Wave life Sciences, APIC Bio, Ionis and more. Mass General ,Umass ( Robert Brown), Mayo Jax, Hopkins. Michael Benatar, Katharine Nicholson, Tim Miller all studying FALS
My brother died with ALS and I have it. In 2012 Mayo isolated the C9ORF72 gene and I was tested for it in 2018 as I was showing ALS characteristics but my naive young neurologist wasn't sure that is what I had. The gene test confirmed it. My remaining brother asked if he should be tested. I said, do what you want, but why ruin your life. Of course there are others who just have to know. I reccommend the gene test. A group in Wisconson did my analysis. I am in Florida. I received it for free via Massachusetts General Research, the epicenter of ALS research. C9 is nearly always ALS and a percent also have frontal lobe dementia. There are dozens of genes associated with ALS, but C9 is the largest group of them all. SOD1 is also a big group.
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