Need advice SOD1

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janicebuf

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Hi Everyone,

I have not been on this forum for many years when my brother was diagnosed. [He passed at age 50].

I have been living with the fear of ALS since childhood, and am now about to turn 60. I've lost more family members than I can count, including a cousin at age 21, so you can imagine the anxiety level. My dad was 57 when he passed, my grandmother was 59, uncle 69, cousin's in their 30's, I can go on but you get my point.

Curious as to what thoughts are; I am at a crossroads in my life. I have severe osteoarthritis in both knees, they will need to be replaced. I am scared because my brother had his hip replaced, and wound up getting als literally within months of surgery. So......what do I do? Is there any info on either anesthesia or major surgery triggering the gene? I've avoided genetic testing because there is no treatment and in my opinion no hope at this point. I've heard for 40 years that 'a cure is around the corner', and apologies if I sound bitter, I kind of am. I think most would be after losing 40+ family members so hope you understand. Again, forgive me if I sound negative, I believe it's the fear and the loss of hope. Can one of you shine some positivity on this post?

Thanks in advance. :)
 

Nikki J

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There is significant hope for sod1. You do know that tofersen is in the last few months of their pivotal phase trial? Even with the recent disappointments with nurown and amylyx there is a lot of reason to hope it will be approved. A carrier prevention trial is about to start too.

I don’t believe there is any evidence about surgery and anesthesia. Anecdotes are just anecdotes and we can’t know what would have happened if your brother had skipped surgery. In your family I expect you can find plenty of examples of ALS with no triggering event identifiable.

for yourself if you are delaying needed surgery because of this would that not be an actionable reason to test? You have a 50 percent chance of being negative and could go ahead without fear. If you are worried about general anesthesia you could ask for spinal

I do understand frustration and bitterness. FALS is a nightmare that never ends. In the past 40 years my family has had only 3 years when someone wasn’t diagnosed and a number of years when multiple people were. SOD1 is the closest to answers. As well as tofersen there is an expected phase 1 trial of the one dose viral vector therapy that should start very soon.
 

janicebuf

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Thank you so much for responding Nikki and I am sorry you are in similar shoes too. From what I understood about Toferson, and of course I could be way off, was that it had a 3-6 month life extension, can you help me understand if this is true or not?

Regarding triggers, interestingly, one of my cousins who passed at 32 had a motorcycle accident and never got better, and when they were doing blood tests, had a high amount of lead. My dad was mugged and had a head injury, his mom [my grandmother], tripped and fell over a dog gate, my other cousin broke her thumb snowmobiling, my brother was a hockey player and coach so countless injuries there, and my mom reminded me that he had dental work done and felt his jaw never got better. His started with bulbar symptoms which I think only one other person in our lineage started that way. I don't know maybe a coincidence but worth noting.

Oh gosh, so many decisions and I am truly saying prayers and looking for some sort of sign that I need to get tested. I pray for a cure every day as I am sure we all do.
 

Nikki J

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The issue with tofersen is how fast you get it and how aggressive your particular family variant is. There are people who got it early and or have a less aggressive variant who reportedly have stabilized or even improved. The current phase has a split of slow and fast so I think we will see that data analyzed separately as part of the results. I think everyone believes early intervention is key

some of the trauma that precedes diagnosis is caused by unrecognized onset. That happened with my sister who had a bad fall but before that she had hand symptoms She didn't see a neurologist until after the fall though

maybe your need for surgery is the sign you should test. Then you can at least decide surgery with all the available information
 

janicebuf

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Thanks Nikki. Sadly, my family gene is fast progressing. I appreciate your input and you are correct in the need for testing should be considered. Really thank you again!
 

janicebuf

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One more question; is viral vector a shot? Is that what it means? Sorry not sure.
 
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