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Genetic testing
My husband has ALS and is positive for the C9orf72 gene mutation. I am struggling with whether or not to tell our kids who will now have a 50% chance of having the mutation also. I know I should, but it will devastate my daughter. How have others handled this situation. My heart is breaking!
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7 Replies
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My Hubs had stage 4 prostate cancer; did genetic testing. He carried that plus breast cancer genetics. I received the written report which I shared with both my kids. Since daughters can carry that gene, my daughter tested. She was negative for 54 genes. I don’t know if my son tested
Since 2 of Hubs male + 1 female sib were deceased, I also shared with nieces and nephews. We KNOW his sister carried breast cancer. 1 brother cancer is unknown since his wife won’t share with her kids. Other brother passed of heart attack. ALL of those children received copies of the testing
In my personal opinion, being told allows them to decide for themselves.
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This is a difficult decision. Hopefully you have a good genetic counselor who can help walk you and your family through all the things you need to consider.
My wife has FTD/Aphasia and the C9 mutation. I elected to tell my 4 sons and their spouses. That was a hard discussion, but it gave them the opportunity to make informed decisions about how to move forward. Two of my sons have enrolled in the ALLFTD research study and go to UCSF periodically for testing. They have so far elected not to find out whether they have the mutation or not.
Because treatments are starting to be developed for various genetic types, knowing that C9 is involved gives patients an option for future clinical trials.
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As others note this is a difficult decision. Since more is known with genetic ALS it would follow that clinical trials, treatments and perhaps a cure would be more widespread and that the science is further along—gene therapy and genome research has been around a while and only limited in part, in my opinion, by the rarity of a disease and lack of funding for basic research. Perhaps there is more hope. My husband recently passed, he’d had sporadic ALS since Jan 2020, and he insisted on the full battery of genetic tests so that we could include our daughter in any long-term planning, testing and decision making regarding her own health. It’s devastating news to receive about a family member, or yourself, but to be informed may provide “relief” or at least guidance for how to approach the future. Best of luck to as your journey continues.
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1962,
You are in an impossible situation. What may be right for one person may not be right for another. Personally, I would ask myself, “Would my daughter be upset if I did not tell her?”
I remember when my family realized how dominant ALS was in my family. (I’m #15 or 16 pALS). My family is rare with the high number of people who have/had ALS even with a mutation. Initially, I was preoccupied often. I was in my early 40s. I was empowered by knowing I had the mutation. I immediately followed in the steps of a couple of cousins who volunteered for study after study. I could not control having the mutation, but I could help find a cure. Because I joined the Pre fALS study in 2011, I was followed closely. I had abnormalities way before I was diagnosed at 55. The Pre fALS study was also a key player in developing Tofersen/QALSody, which has stopped by ALS progression so far.
Again, you know your daughter and family best and you need to make the right decision for them.
Warmly,
Amanda
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If you do share the information with your family and someone decides to get tested. They typically require genetic counseling which is very helpful in my opinion.
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i too tested pos. for the c-9 gene lost father 1969 from als,my younger sister age 45 als,sister two years older to als ,sister #3 was lost to FTD age 60,sister #4 was lost to bulbar als age 70,and i have a brother in memory care last year at age 70.I think it maybe FTD again.been out to Columbia 3x in 3 years .the last time i was 1 of 30 group checking glucose.And finally I have been down to mayo 2x in 2 years for memory research.
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Hi
I lost my mum to ALS and am now showing symptoms. Does anyone know where in South Africa l can get do genetic testing. I am a pensioner. I also have read about the probiotic strain lactobacillus rhamnosus HA-114 produced good results in slowing symptoms of ALS..in a study in the university of Montreal. I would like to know if anyone has tried this with any success.Will greatly appreciate a response from anyone with any knowledge about both issues mentioned. Thank you.
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