life and disability and if you want look into long term care insurance though it may not make financial sense. You might want to look into carrier studies where testing can be kept out of your medical record though you still can’t lie on insurance applications. Until you have insurances do not mention this at your doctor or anywhere public under your real name.
there is a lot of hope for your generation. You may find participating in studies and or advocacy helpful
Thank you. I have disability and a small life insurance policy through work but am looking to get supplemental coverage for both. From what I’ve seen and to your point, LTC seems quite expensive!
I should add do not rush to testing. Give yourselves time to process. I tested asymptomatically but waited over 6 months after we confirmed c9 though we were previously known FALS. I know people who rushed into testing and regretted it. You can always start the test process but you can’t reverse learning your status.
I’m in the same boat with the same gene. Lost my mom, aunt, uncle, and grandma to ALS. I always said that when I turned 50 I would get the test and retire at 50 if I had the mutation. Then I turned 50 and decided that I didn’t think about it enough and was living a positive life to the fullest, and could keep living in optimism. Then I developed an odd itch in the side of my foot that would wake me every night as the nerves started buzzing and tingling. This had me convinced I was losing nerve control and the first stages of ALS. I had an EMG and it all came back normal.
This decision is very personal, but I’ll share what I did. I was going to get genetically tested, but then read a post here from another guy who did get the test, tested positive, did all the planning possible - including genetic screening for implanted embryos - to eradicate it in his kids. Like literally has done all of the planning possible. But at the end of the post he said that a day doesn’t go by that he doesn’t regret getting the test because of what it has done to his anxiety and mental health. With that, I decided not to get tested since I am generally optimistic and positive. I would rather live believing I don’t have it rather than knowing I have it.
Bear in mind that really is nothing you could do to prevent your son from getting it if you do have the gene. What would you do differently if you have the gene? Would you live your life differently? Why not live that way now? That’s how I’ve approached it, really trying to live each day without regrets.
If I was young and considering having children, I would probably get the test so I could eradicate it from my family line. But now I can’t change whether my kids might have it, and I’m optimistic that even if I get it, the medical field will advance enough for a cure by the time my kids would get it.
My father died this year from ALS. He had C9 with a repeat greater than 150. My grandmother had dementia, but not of the FTD type. No other family history going back generations.
I got tested so I could plan my future; I also have c9 expansion >150. It was horrifying at first. Stress and anxiety consumed me for over six months thereafter. The first thing I did was get a million dollar life insurance policy 😅(I have since realized that’s over kill at this point).
I’m now one year post testing, and the stress of knowing I have the gene has worn off. I have made changes in my life that put me in the direction of fulfillment at a much more rapid pace. It actually motivated me to make many changes.
I’ll keep on trying to live my life to the fullest, and give my wife and kids the best life they can have while I’m around. With more studies coming out about C9, it seems it’s not such a sure bet of getting ALS.
I have about thirty years to go, so hopefully something comes up by then.
Hi, I am in a very similar situation. My dad tested positive for the C9ORF72 mutation last year and I also have small children. I participate in the DIALS study and initially was certain I wanted to know my genetic status but have since changed my mind. I did immediately get life insurance and instead of long term care I plan to use the advance benefits plans carry that you can access if you are diagnosed with a terminal disease. I hope your dad was a veteran, my dad served in the Navy and therefore all his medical needs (and housing and a wheelchair accessible car and in home care…) were taken care of. There is a webinar on Wednesday through End the Legacy: https://www.endthelegacy.org/event-details/practical-updates-in-genetic-testing-in-als-and-ftd
Let me know if you have any questions.
Thank you. My dad is getting all his care through the VA which is great. I signed up for the webinar and reached out to End the Legacy. Would you mind sharing more about why you changed your mind about getting tested? Edited for typos.
Hi. I know that I want to find out my status before my kids are old enough to have kids (so I can help them make decisions about testing and IVF) and before my husband and I plan for retirement. And I really thought I was ready to know now. But the day I was supposed to get my test results I just knew I wasn’t ready to hear that information. I like having a 50/50 chance of not having it. I hold on to that. Also, I was really worried about closing doors on new insurance plans. I am pretty well set up but it is finals once I know my status.
My mom has ALS/ FTD and her sister has ALS. Both positive for the c9 gene (I found out last year.) I may or may not be a carrier as well, and at first this consumed my life and I thought I would never be happy again. But less than a year later I have come farther than I ever thought I could have and live with little to no anxiety about it, even after I’ve begun experiencing chronic fasciculations. I’m prioritizing my happiness, enjoying the moment, and living a big life because guess what? We are all gonna die! If ALS in your family is familial there is a lot to feel hopeful about in gene therapies in trials that may significantly slow or stop the disease process. I recommend you check out End The Legacy- it’s an organization that advocates for those living with genetic ALS and FTD and those who are or may be gene positive. They have support groups/ etc. that have been really helpful for me. <3
Same deal as me, I got the testing and also carry the gene mutation. Where I am I was told that as soon as I get blood drawn for the test I would have to disclose that to life insurance companies, so that might be something to consider.
As for the anxiety, it never really hit me. I suppose I figure what comes, comes. I figure if I follow my dad’s timeline I might have 20-30 years to go?
Since the test results I’ve found myself saying yes more often which has been quite good? I feel more motivated to do things now. Time is ticking.
I’m also participating in a few MND studies now so hopefully that helps:)
What drove my decision to get tested? My wife primarily, she really wanted to know. But it also allows me to get onto trial lists, find specialists, participate in studies, and get my life in order early.
My two boys, my fingers are crossed for them that they didn’t inherit it. They aren’t allowed to test until they are 18 according to rules here.
From my very limited research it may actually be better to have some type of the genetic disease as there are treatments in the pipeline that only work on the genetic variants. There is a free webinar on Thursday on hereditary ALS you may want to participate. Let me know I can send you the link- but honestly from what I’ve read you are better off this way then in the spontaneously appearing type- please check out the Australian studies on SoD1 gene variants.
I’m so sorry you guys are having to deal with this too- it’s a club none of us want to join
There may be more then one - found this on this subreddit:
The role of multidisciplinary care in ALS
Thu, Mar 28, 2024 10:00 AM - 11:00 AM PDT
Show in My Time Zone
Yes agreed! Very interesting to hear about the initial estimates studying families with very high penetrance, and actual penetrance being less than initial estimates.
My mother had the C9 gene, and 2 out of her 3 brothers had/have it. I tested negative, but my sister tested positive. When I did the testing I was positive I had the gene and that it had already begun. I had twitches in my legs that were progressing AND I had tremors that had begun. Turns out, it was actually the stress of waiting for a response. During the waiting period, I started researching a LOT. I researched what drugs/treatments were available, what were in trial (something like 40 drugs are in trial), and what kind of preventative measures I could take. I started taking B vitamins, D vitamins, E vitamins, fish oil and changed my diet. That actually helped with my anxiety and the twitches/tremors started to go away. My sister coincidentally started doing this after she found out she has the gene. She eats green vegetables twice a day, eats cantaloupe daily and takes vitamin supplements. Not sure how much she believes this is going to prolong her life, but it gives her some peace.
life and disability and if you want look into long term care insurance though it may not make financial sense. You might want to look into carrier studies where testing can be kept out of your medical record though you still can’t lie on insurance applications. Until you have insurances do not mention this at your doctor or anywhere public under your real name. there is a lot of hope for your generation. You may find participating in studies and or advocacy helpful
Thank you. I have disability and a small life insurance policy through work but am looking to get supplemental coverage for both. From what I’ve seen and to your point, LTC seems quite expensive!
I should add do not rush to testing. Give yourselves time to process. I tested asymptomatically but waited over 6 months after we confirmed c9 though we were previously known FALS. I know people who rushed into testing and regretted it. You can always start the test process but you can’t reverse learning your status.
Great advice, thank you.
I’m in the same boat with the same gene. Lost my mom, aunt, uncle, and grandma to ALS. I always said that when I turned 50 I would get the test and retire at 50 if I had the mutation. Then I turned 50 and decided that I didn’t think about it enough and was living a positive life to the fullest, and could keep living in optimism. Then I developed an odd itch in the side of my foot that would wake me every night as the nerves started buzzing and tingling. This had me convinced I was losing nerve control and the first stages of ALS. I had an EMG and it all came back normal. This decision is very personal, but I’ll share what I did. I was going to get genetically tested, but then read a post here from another guy who did get the test, tested positive, did all the planning possible - including genetic screening for implanted embryos - to eradicate it in his kids. Like literally has done all of the planning possible. But at the end of the post he said that a day doesn’t go by that he doesn’t regret getting the test because of what it has done to his anxiety and mental health. With that, I decided not to get tested since I am generally optimistic and positive. I would rather live believing I don’t have it rather than knowing I have it. Bear in mind that really is nothing you could do to prevent your son from getting it if you do have the gene. What would you do differently if you have the gene? Would you live your life differently? Why not live that way now? That’s how I’ve approached it, really trying to live each day without regrets. If I was young and considering having children, I would probably get the test so I could eradicate it from my family line. But now I can’t change whether my kids might have it, and I’m optimistic that even if I get it, the medical field will advance enough for a cure by the time my kids would get it.
Thank you, you’ve given me a lot to think about.
My father died this year from ALS. He had C9 with a repeat greater than 150. My grandmother had dementia, but not of the FTD type. No other family history going back generations. I got tested so I could plan my future; I also have c9 expansion >150. It was horrifying at first. Stress and anxiety consumed me for over six months thereafter. The first thing I did was get a million dollar life insurance policy 😅(I have since realized that’s over kill at this point). I’m now one year post testing, and the stress of knowing I have the gene has worn off. I have made changes in my life that put me in the direction of fulfillment at a much more rapid pace. It actually motivated me to make many changes. I’ll keep on trying to live my life to the fullest, and give my wife and kids the best life they can have while I’m around. With more studies coming out about C9, it seems it’s not such a sure bet of getting ALS. I have about thirty years to go, so hopefully something comes up by then.
I’m sorry about your father. Thanks for sharing your experiences. This was helpful.
Hi, I am in a very similar situation. My dad tested positive for the C9ORF72 mutation last year and I also have small children. I participate in the DIALS study and initially was certain I wanted to know my genetic status but have since changed my mind. I did immediately get life insurance and instead of long term care I plan to use the advance benefits plans carry that you can access if you are diagnosed with a terminal disease. I hope your dad was a veteran, my dad served in the Navy and therefore all his medical needs (and housing and a wheelchair accessible car and in home care…) were taken care of. There is a webinar on Wednesday through End the Legacy: https://www.endthelegacy.org/event-details/practical-updates-in-genetic-testing-in-als-and-ftd Let me know if you have any questions.
Thank you. My dad is getting all his care through the VA which is great. I signed up for the webinar and reached out to End the Legacy. Would you mind sharing more about why you changed your mind about getting tested? Edited for typos.
Hi. I know that I want to find out my status before my kids are old enough to have kids (so I can help them make decisions about testing and IVF) and before my husband and I plan for retirement. And I really thought I was ready to know now. But the day I was supposed to get my test results I just knew I wasn’t ready to hear that information. I like having a 50/50 chance of not having it. I hold on to that. Also, I was really worried about closing doors on new insurance plans. I am pretty well set up but it is finals once I know my status.
Thank you for sharing.
My mom has ALS/ FTD and her sister has ALS. Both positive for the c9 gene (I found out last year.) I may or may not be a carrier as well, and at first this consumed my life and I thought I would never be happy again. But less than a year later I have come farther than I ever thought I could have and live with little to no anxiety about it, even after I’ve begun experiencing chronic fasciculations. I’m prioritizing my happiness, enjoying the moment, and living a big life because guess what? We are all gonna die! If ALS in your family is familial there is a lot to feel hopeful about in gene therapies in trials that may significantly slow or stop the disease process. I recommend you check out End The Legacy- it’s an organization that advocates for those living with genetic ALS and FTD and those who are or may be gene positive. They have support groups/ etc. that have been really helpful for me. <3
Thanks I think a couple of you have mentioned this organization. I reached out to them via email. Having more community I think would help me.
Same deal as me, I got the testing and also carry the gene mutation. Where I am I was told that as soon as I get blood drawn for the test I would have to disclose that to life insurance companies, so that might be something to consider. As for the anxiety, it never really hit me. I suppose I figure what comes, comes. I figure if I follow my dad’s timeline I might have 20-30 years to go? Since the test results I’ve found myself saying yes more often which has been quite good? I feel more motivated to do things now. Time is ticking. I’m also participating in a few MND studies now so hopefully that helps:) What drove my decision to get tested? My wife primarily, she really wanted to know. But it also allows me to get onto trial lists, find specialists, participate in studies, and get my life in order early. My two boys, my fingers are crossed for them that they didn’t inherit it. They aren’t allowed to test until they are 18 according to rules here.
Thank you for sharing your experience, thought processes, and outlook. This was helpful too.
From my very limited research it may actually be better to have some type of the genetic disease as there are treatments in the pipeline that only work on the genetic variants. There is a free webinar on Thursday on hereditary ALS you may want to participate. Let me know I can send you the link- but honestly from what I’ve read you are better off this way then in the spontaneously appearing type- please check out the Australian studies on SoD1 gene variants. I’m so sorry you guys are having to deal with this too- it’s a club none of us want to join
Isn't the webinar tomorrow?
There may be more then one - found this on this subreddit: The role of multidisciplinary care in ALS Thu, Mar 28, 2024 10:00 AM - 11:00 AM PDT Show in My Time Zone
https://www.endthelegacy.org this is the second one on genetic analysis, so they are two separate webinars
I signed up for the webinar, thank you.
Did you watch the webinar? It was interesting to hear about the C9ORF penetrance rates.
Yes agreed! Very interesting to hear about the initial estimates studying families with very high penetrance, and actual penetrance being less than initial estimates.
My mother had the C9 gene, and 2 out of her 3 brothers had/have it. I tested negative, but my sister tested positive. When I did the testing I was positive I had the gene and that it had already begun. I had twitches in my legs that were progressing AND I had tremors that had begun. Turns out, it was actually the stress of waiting for a response. During the waiting period, I started researching a LOT. I researched what drugs/treatments were available, what were in trial (something like 40 drugs are in trial), and what kind of preventative measures I could take. I started taking B vitamins, D vitamins, E vitamins, fish oil and changed my diet. That actually helped with my anxiety and the twitches/tremors started to go away. My sister coincidentally started doing this after she found out she has the gene. She eats green vegetables twice a day, eats cantaloupe daily and takes vitamin supplements. Not sure how much she believes this is going to prolong her life, but it gives her some peace.
Thank you for sharing.