Old 01-04-2018, 09:50 AM #1 (permalink)
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Default Question Regarding FALS

Hello,

I am new to this forum and my mother in law has been diagnosed with FALS (we do not know what gene yet). She has 6 siblings, 3 of which were diagnosed with ALS in the past in their late 50's to mid 60's. My mother in laws mother is in her 80's and DOES NOT have ALS, she has also indicated no one in her family has ever had it in previous generations, many which lived to be quite old. My mother in laws father passed in his 40's or 50's of a heart attack and never had ALS. According to my mother in laws mother, there was no ALS in his family as far as she is aware. Both of his parents lived to be old without any diagnosis, and none of his siblings, aunts or uncles had it.

Heres my question, if only one generation in a family has shown to be effected by ALS does this mean that this is likely an autosomal recessive form of ALS? In this case my mother in laws children would have a very low risk of ever getting the disease because it would require 2 carriers to produce a child with the disease. Im very worried about my husband and his siblings ever developing this. They are currently in their late 20's. Im literally worried sick. I want children but also dont want out lives ruined by doing a test when theres no cure so its all been very hard for me. Has anyone else seen this type of genetic pattern of only one generation being effected (men and women)? what does it mean regarding the chances of getting it?
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Old 01-04-2018, 10:09 AM #2 (permalink)
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Default Re: Question Regarding FALS

It sounds as if genetic testing is pending? You may know more after.

Almost all FALS is autosomal dominant. There are some possibilities here that might explain the history. Not all FALS genes are considered 100 percent penetrant so carriers can live normal lives while passing it to their offspring.

There is also a phrnomenon called de novo mutation where the defect appears spontaneously- in this case with the late father of mil.

Also a theory of genetic anticipation where each generation becomes affected younger.

If the family is of European ancestry C9 orf72 is a likely culprit. This commonly affects people at 50-60 and is not supposed to start before 35 and 35 is rare. There is much research on FALS and there is a current trial for SOD1 and 3 expected trials for c9 in about a year. More in the pipeline for c9 and other defects. I am c9 and My neurologist has told me to have great hope for my unaffected relatives.

If there is an identified genetic defect I encourage your dh and siblings to look into participating in genetic research. The more material the scientists have the faster answers will be found
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Old 01-04-2018, 10:17 AM #3 (permalink)
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Default Re: Question Regarding FALS

I believe my MIL is being tested for C9 and will be receiving gene therapy at some point this year. I am just so worried about my husband ever being diagnosed i dont know how to get it out of my head. I have considered asking the grandmother (mother of my MIL) if she would get tested to see if she carries some quiet form of it with no diagnosis.
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Old 01-04-2018, 10:35 AM #4 (permalink)
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Default Re: Question Regarding FALS

Just to give me a bit of relief, would you know how close they are to curing the C9 variation? by the time my husband is of the age his family members were (hes 28 now), is this something likely to be cured?
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Old 01-04-2018, 10:40 AM #5 (permalink)
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Default Re: Question Regarding FALS

I am sure if they tested anything it would be c9. They must have told her if positive they would try to get her in a trial when they start as there is no c9 gene therapy available.

I encourage you NOT to ask the grandmother to get tested. If there is an identified genetic defect in your mil it makes no difference where it came from to your husband's risk. None. Gene testing is a big deal. If grandmother was positive she would have a double burden- fear of getting it herself and guilt for passing it to 3 of her children. You do not have the right to ask this of her. I do believe someone who has FALS with no identified gene owes testing to their family because that is potentially actionable- now to assess risk later to access preventative treatments. There is nothing that knowing gm's status would tell you that is actionable.

When you know mils genetic results if there is an identified gene your husband could decide if he wants to test. I understand this is a shock and a worry but it is reality. If , after the shock passes, you still can not deal please consider talking to someone professionally. You husband and his family have the same burden of worry for each other and children plus worrying about mil. They also have to face their own risk

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Old 01-04-2018, 10:43 AM #6 (permalink)
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Default Re: Question Regarding FALS

No one knows if any of the 3 trials planned will be successful. There are other possibilities a couple of years from now too. I think the chances are excellent. Researchers need genetic samples and money to speed this so please do what you can.
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Old 01-04-2018, 10:52 AM #7 (permalink)
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Default Re: Question Regarding FALS

I believe it is possibly one of those C9 trials that she may enter if tested positive for C9 because they told her she cant start it until October 2018 i believe. She also mentioned something about a stem cell trial. I figured that knowing the grandmothers genetic makeup would help in finding more about the gene but if it wouldn't provide any additional information regarding the type of inheritance (rare recessive version or dominant), but if not than there is really no point in that. Oddly enough none of the other 3 siblings that had this disease had any sort of genetic testing. Im not sure why they didnt want to know what variety of ALS they had.
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Old 01-04-2018, 11:00 AM #8 (permalink)
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Default Re: Question Regarding FALS

I can't understand the not getting tested if you have FALS either it is a gift to your family.

You are right. There is nothing to be gained in knowledge by testing gm.

It sounds like they were talking about the biogen antisense trial. I was told q4 2018 for it. Good luck to her!
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