Understanding fALS

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Spud

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Good evening, all.

I haven't posted in some time. Just trying to process my family's new journey. My mom was diagnosed with ALS in May of this year. Today she found out that her 3rd cousin had ALS. I "googled" to try and understand if this is now fALS. It does say that 2 blood relatives makes it so but it doesn't say what generation this includes. So my question is, obviously, am I at risk now? I did read that if parent has it, offspring have 50% chance of getting mutated gene. I called our care team to discuss genetic testing for me and the nurse really didn't have an answer because we don't know what mutated gene is there. I was just told to ask doctor at next visit with my mom in October. This is all so new, and so scary, and so crazy, and on and on. I did read some of the threads on this forum but I'm still confused as to whether I have a 50% chance of developing ALS in 10 years.

Any insight would be greatly appreciated. My mom is 67 and I am 49 with 2 daughters that I love dearly. I want to be around for my grandchildren. I just need some simple, talk to me like I'm a 4 year old, education:)

Thank you, everyone for listening or reading.

Spud
 

Gorby

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3rd cousin sounds very remote. It's unlikely that would constitute fALS. Also, I think the 50% risk applies only if fALS is confirmed. If your mom's ALS is sporadic (not familial), then I think your risk is almost the same as the general population. I say "almost" because there is a possibility of a de novo mutation (that's a mutation that occurred in your mom) that you might inherit. For most people with sporadic ALS, the doctors can't identify an ALS gene. So, it's unlikely that genetic testing of your mom or you would help. But, I'm not an expert. Maybe one of the fALS or doctors on the site will chime in.
 

Ken15

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Hopefully Nikki will reply, as she is very knowledgeable about FALS. However, I will pass on what I know, as my PALS/wife has the C9orf72 mutant gene and has been designated FALS, even though she knows of no other family members who have had ALS.

While family history of ALS is important, a blood test can identify known mutations (e.g., SOD1, C9, TDP43 and others). These mutations have been identified over time and are not a complete set (many new mutations have been discovered this decade). Thus, your mom can be tested for known mutations and, if positive, you will pretty much know for sure she is FALS.

Now, if she is positive for one of the known mutations, then you would have to make the decision to do a blood test to determine your status. Yes, you would have a 50% chance of inheriting the mutant gene (as would any of your siblings). However, you should very carefully consider whether or not to have the blood test. If your test is positive, you may not develop symptoms for many years, yet you now have this cloud hanging over your head (and your children's). Whereas, if you don't get tested, you can continue to live your life (albeit with a question mark) and if you ever do develop symptoms, you can get tested at that time. The choice is yours - choose carefully, because once you know, you can't unknow it.

Lastly, if your mom gets tested and tests positive for one of the known mutations, seek out a genetic counselor before making a final decision on testing for yourself. S/he can advise you of all the variables involved in making this critical decision. Genetic counseling should be available via the ALS clinic treating your mom.

Ken
 

ReginaS

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So sorry for your mother's diagnosis and your very understandable stress. ALS was such a shock to me and my partner.

There can be odd, unlikely coincidences. I hope that's what's going on for you and your family. For example I know someone whose aunt had ALS and now his wife has ALS - (aunt and wife are not related.) The odds of something like that happening are so small - and it still does.

Before your mother gets tested it might be worth it to consider potential questions on an application for health insurance and whether there could be a question about family members w. a genetic disease on such an application. One might or might not want to take the risk of making it harder to get health insurance for oneself or children. Now or in the future....
 

Nikki J

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It would not be considered FALS at this point. I think it is reasonable to ask for genetic testing for your mom though. About 7 percent of apparent SALS carry the c9 mutation. Definitely if there is a positive get your life insurance etc in place then get genetic counseling.

Re coincidence one of my FALS carrier relatives had a cousin on the other side with SALS. ALS is not not that rare
 

Spud

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Thank you everyone for your help. I think I will hold off on pursuing genetic testing and just concentrate on helping mom through this journey. She is finally asking family questions to get a little history. Turns out there may be more than just a 3rd cousin. Our future is uncertain but we will try to live our best life.

Thank you all again and best wishes for everyone's journey 🙂
 
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