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Did you have genetic testing done?
My family has lost over a dozen members to ALS. Are you the first one in your family to be diagnosed with ALS?
Did you have genetic testing done? If so, did you or your doctor make the suggestion?
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6 Replies
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No, yes and yes
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I am the first in my family to have ALS, however, my Mom died of FTD. I have C09orf72 mutation and that mutation can cause FTD or ALS or both.
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Sorry to hear that! My family has lost nearly 10 and have 1 with Parkinsonism & Lewey Body Disease. I can connect you with our Genetic ALS community, such as End the Legacy.
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Yes I have had genetic testing done and found out my type of ALS was Sporadic and not genetic. Everyone should have this done, since your children could be affected by a positive genetic component. Luckily I was able to tell my children that mine was not genetic, just like the vast majority of ALS patients.
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My husband Jay passed away April 2024 after living with ALS for 5 years–probably longer given the time to diagnose. He had genetic testing done at diagnosis and it revealed a clean slate with regard to known mutations for ALS–in particular the known familial mutations. I say known mutations because for 90% of pALS the genetic basis of their ALS is not known–at least for now. We chose testing primarily for our daughter’s sake. Jay is the only person in his family to have had ALS. Other family members have had neuropathies linked to other issues inclining spinal stenosis–a condition that can co-occur with ALS as it did for Jay. Clearly more research is needed as my science training in molecular biology leads me to believe that cracking the code on familial ALS will lead to better understanding of the biological and molecular mechanisms that will lead to new therapeutics and a cure.
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No, I am not the first. My Aunt, Father, and now sister have passed away from ALS. I did have genetic testing done and came back at I am a carrier of C9ORF72. I am holding onto the hope that the gene does not mutate, but that we all know that possibility. The Dr did try to put me on meds, and I asked what the possible side effects are of being on this medication without the symptoms. They could not answer that, so I was not comfortable starting them without symptoms. There is so much research being done that I feel needs to be released. I wish the funding was not an issue. I have looked into stem cell possibilities, but they are currently only being done outside of the US.
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