Possible Familial ALS?

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New member
Feb 26, 2023
Loved one DX
Just for background, I am a 30Y female.

My paternal grandfather died from ALS when my father was 12. Unfortunately I don’t know the age he passed. He had 4 children including my father, all of whom are in their 60’s now and fairly healthy. They have all gone on to have children.

This is where things get slightly confusing. Please bear with me as it’s a longer explanation but it all ties in. My father has been a drug addict for the last 20 years or so. He has a habit of habitually lying for sympathy. However, my mother (they are now separated) is much more virtuous and would never tell anything but the truth.

In 2006 my father had a health situation that we later found out was possibly a number of mini strokes. There is a chance his hidden drug use contributed to his health issues as well. Due to his father dieing of ALS, they sent him for genetic testing. According to my dad the test came back positive for 2 ALS genes. I would be inclined to believe he was lying for sympathy, except for the fact that his life insurance paid their mortgage out completely. Surely they would not have done so without the proper supporting evidence. I recently asked my mother about this story. She confirmed that yes, the insurance paid him out, and a few weeks later the Doctors “took back” the ALS diagnosis. She cannot remember why or any other details whatsoever, other than they offered me and my siblings to be tested. I don’t know if they offered to test us before or after they “took back” his ALS diagnosis. It’s all a very chaotic story and she regrets she cannot remember the details clearer.

My father is now 68 and no symptoms of ALS, nor does anyone else in the family I am aware of. So other than my grandfather dieing from it, and my father apparently having the gene, nobody has been affected. I’m torn between thinking it may be a recessive gene he has, onset hasn’t occurred yet, or a gene that hasn’t expressed itself. I’ve tried to research the chances of FALS with multiple members having a gene that has not expressed itself ie. if one member is more resilient, are the others?

My youngest son (3) is currently getting genetic testing for a completely different reason. In turn, mine and my husband’s will be done as well. I am scared to death of the thought that I will find out I have the gene through this testing, that this is perhaps familial ALS and the gene simply hasn’t expressed itself in my father. I have lived with some anxiety all of my life but I cannot sort out whether the risk of finding out I have the gene is worth finding out. My anxiety at simply the thought of having it has me incredibly on edge.

I apologize if this comes off insensitive to those who are currently dealing with ALS or a family member with ALS. In no way shape or form do I intend to sound insensitive to those bearing a much more difficult burden than the unknown. My love truly goes out to anyone fighting this battle right now.
This all sounds highly confusing. a few thoughts there were only 4 ALS mutations identified before 2006 and two identified during that year. It takes a while for new mutations to be added to commercial testing Sod1 discovered in the 90s is the only one of the 4-6 that wasn’t ultrarare even in those with ALS. I would be surprised if in 2006 they were doing testing for all identified mutations even if there was suspicion for FALS but rather testing for sod1 only. Genetic testing was VERY expensive then. So the two mutation thing seems unlikely

insurance might have paid out for an ALS diagnosis but they wouldn’t have based it on mutation status. Carrying a mutation does not diagnose someone with ALS.

almost all the FALS genes are autosomal dominant and sod1 is highly penetrant.
it is also extremely weird that there was an offer to test you as a minor. The standard practicevfor testing potential ALS carriers forbids testing of asymptomatic minors and in 2006 testing of even adult carriers was less common

not all als mutations show up on sequencing which I gather is what you are having done. However I think you could also tell the geneticist that you only want to be told results related to your child’s issue if you want

finally would your father request his records from 2006 that relate to the alleged genetic testing if you told him they were needed for your current situation? you would only need the test results nothing else and you could show your geneticist
Thank you for the response Nikki.

I agree it’s a highly confusing situation. My ALS knowledge is very limited at this point so the gene information with dates is VERY appreciated. He most certainly would have had limited testing and 2 genes does seem unlikely with that information.

It also did not occur to me that insurance would pay based on diagnosis and not the gene testing. My thought process was a positive gene test would have been their basis. I should have known better on that one.

I am rather concerned that while he may have dealt with health issues at the time, there may have been an exaggeration as to the final results. I will be taking the suggestion and seeing if we can get them for our current situation. I will post an update when we find anything out. Thank you for all the information, it has been truly helpful.
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