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Nearly all cases of ALS fall into the sporadic ALS category, with only 5-10% of cases being caused by an identified genetic mutation. If you fall into the 5-10% of familial ALS, how has this information impacted your journey or treatment? Do you know which gene mutation you have and how it typically progresses? Have you participated in any studies?
Amanda
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My family has the C9orf72 mutation. I had already been diagnosed with ALS when I was asked to test for the gene. The knowledge saved my sister from unnecessary carpal tunnel surgery. I told her to have her doctor refer her to a neurologist. They found ALS. The testing made me eligible for an important clinical trial. I have three more siblings with the gene, and at least one of my children has it. He and his wife will use science to have a child without the genetic mutation. Other members of my family have not tested yet. The sister I mentioned above passed away in February from the disease.
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I found out I have the C9 gene mutation and it was devastating to learn I have it. It’s slow progressing so far but since my first symptom almost two years ago to my diagnosis Nov 2021 I have gotten very tired. I take each beautiful day I’m able to with thankfulness to God. But I’m tired. God bless all those that are fighting this devastating diagnosis.
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I considered genetic testing for about three years before finally deciding to move forward. ALS isn’t a stranger in my family. The 50/50 coin flip weighed on me more and more the older I got. I found the counseling session refreshing. There is no more mystery. C9orf72 is my mutation. I have plenty to do!
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It is virtually impossible that I do not have a mutation as my father and brother died from MNDs both different from my ALS. A sister has a different non fatal neurological disease. Genetic testing failed to find a mutation. Hasn’t changed my life of course but has caused fear in our surviving younger siblings. They are aware of potential risk. With my kids, they don’t let it worry them excessively as all our disease late onset and hopefully 20 years in future things will be better.
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My maternal grandfather was diagnosed in 1968 and scientists at that time thought it skipped generations. My mom died of brain cancer in 2007 at 68 years old. Then my oldest brother got it and died in 2012. My middle brother got it and died in 2017. Seemed to me that it did in fact skip the generation. Then I was diagnosed in 2018. My gene is c9. The genetic counselor advised us that it does not skip generations. I had to tell our 3 children today that it is a 50% chance they will battle this disease in the future. I’ve had the information for about a year. I hope it was the right thing to do.
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My grandfather passed from ALS in 1980. He had two sisters that were diagnosed with MS and we later found out it was likely ALS. He also had two brothers that had ALS. All three of his children, including my father, passed from ALS. We have the SOD1 mutation and it appears to be slow progressing. I’ve volunteered for 3 different studies, the last being the longitudinal Pre-fALS study which I started in 2010. I do have the SOD1 mutation. I think this information impacts in some ways more than others. I’m single and I make sure that I have a will, and have things “clean” if something were to happen to me. I have pets and I’ve asked friends to make sure they don’t go into a kill shelter. This is partially because of the genetic mutation and I know a majority of people are diagnosed in their 50s (and I’m in my 50s). At my age I think I would probably make sure things were taken care of anyway because by this point we know things like accidents and other unexpected events occur.
I will continue to volunteer for research as long as I have hope that the information may help pALS at some point. I feel that since I have the mutation I have a unique opportunity to help.
Amanda
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My grandfather passed from ALS in 1980. He had two sisters that were diagnosed with MS and we later found out it was likely ALS. He also had two brothers that had ALS. All three of his children, including my father, passed from ALS. We have the SOD1 mutation and it appears to be slow progressing. I’ve volunteered for 3 different studies, the last being the longitudinal Pre-fALS study which I started in 2010. I do have the SOD1 mutation. I think this information impacts in some ways more than others. I’m single and I make sure that I have a will, and have things “clean” if something were to happen to me. I have pets and I’ve asked friends to make sure they don’t go into a kill shelter. This is partially because of the genetic mutation and I know a majority of people are diagnosed in their 50s (and I’m in my 50s). At my age I think I would probably make sure things were taken care of anyway because by this point we know things like accidents and other unexpected events occur.
I will continue to volunteer for research as long as I have hope that the information may help pALS at some point. I feel that since I have the mutation I have a unique opportunity to help.
Amanda
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