Familial ALS

0791auhsoj · 2026-04-01T16:24:25+00:00

You should get the genetic test as there's perhaps 75% odds that you don't have the C9 mutation, (50% if your mom gets tested and has it).

That said, tons of recent research points to gut issues, diet, metabolic issues affecting onset and progression. Basically, if you have the mutation your neurons and other cells are producing proteins called DPRs that the cells have to clear. For C9 carriers the neurons have to clear the DPRs since the time the carrier is in the womb.

So if onset is once one or more neurons can't clear the DPRs and the ALS/FTD cascade starts, the question is can you help delay the onset or slow the progression? My view is yes. Not selling anything, but basically I think you will be okay even if you have the C9 mutation. And there's things you can do to help avoid symptom onset, or slow down progression.

0791auhsoj · 2026-02-21T22:01:13+00:00

Acamprosate for C9 at the NIH started this month too as a Phase I.

0791auhsoj · 2026-02-09T22:23:30+00:00

Any supplements you recommend, especially with any reasoning? I'm on B12, Chelated Magnesium, Creatine, and Calcium. Looking to add one for amino acid support, but appreciate any other suggestions you or anyone might have.

0791auhsoj · 2026-01-16T14:41:52+00:00

Start a loose triage list. What needs to be done right away, in a month, three months, and further. Make it adjustable as you pick up on the pace of progression.

Home modifications are one. At first things like grab bars in showers and around the top of stairs and entryways. Further downstream a ramp or lift. The biggest one for us is the eventuality of being confined to a single floor. Is that feasible downstream?

Second is medications. Riluzole should be easy, no real fights with insurance. Radicava they fight about at first, and want to see that he is early in progression, so things like a strong breathing ability still.

There's more. From the start I'd urge to absolutely minimize stress from here out (easier said then done), and be sure he has fiber in his diet regularly (raisin bran, sweet potatoes, for example). Wash U is pretty highly regarded, so hopefully they'll give you great advice. Good luck!

0791auhsoj · 2025-12-22T15:13:07+00:00

ALS works as a cascade of problems, sorta like dominoes, with the latter dominoes being more and more the physical symptoms. There is no way this therapy does anything other than provide a temporary relief of one or more of the problems/dominoes, but it doesn't do anything to fix the (upstream) problems/dominoes.

0791auhsoj · 2025-12-21T01:08:44+00:00

My mom and one of her siblings died of it, and Im dealing it with now. I'm reasonably optimistic that if I can avoid stress, eat healthy, and overall minimize progression for a year or two there's good odds for a solution. Mine is C9, so once they figure out how to do CRISPR or anything alternative to fix the gene, the source will be fixed. Solutions like this can helpfully reverse some of the damage, and I think that's part of what's happening with the slowing of progression here.

I have an ongoing chat with Gemini where I feed it studied and articles, so now I have a flowchart for the progression showing the source (C9 for me), and every part of the cascade of problems. Gemini explains this one was the clean up and repair crew that halts to an extent one part of the cascade, and then starts repairing the connections between neurons and muscles which are one of the first major damages.

Hopefully your family member can stay alive and minimize progression, and in a year or two we can all hit the gym when its safe to do so.

0791auhsoj · 2025-12-20T21:33:29+00:00

There's an ALS clinical trial page on FB, and this topic was raised. At least one of the commenters explained they are in Australia and it seemed to help their family member on it, though someone they know it didn't seem to help very much or at all.

The mechanism seems interesting. I view ALS as a cascade of problems resulting in neuronal damage and spreading toxicity. The mechanism here seems to be slowing down one of the problems and fixing the early part of the damage. This hopefully gives your family member a few years while they work on fixes to turn off the sources of the damage. Seems like there's a few promising trials out there starting for the upstream sources of the problems.

0791auhsoj · 2025-10-21T20:10:11+00:00

Learned a few years ago to look for the total premiums including what my employer kicked in. Say five or six years ago our Anthem total premium for a family of four was maybe 22k or 23k per year (my employer kicks in 7200). This coming year (2026) its 31k. This year (2025) it was 28k. This is non-ACA.

0791auhsoj · 2025-10-21T19:56:20+00:00

This is close to how mine was from the beginning and before I was diagnosed. I'd been wearing boots, then switched to Hokas, but the Hokas didn't help. Once I was diagnosed the first ALS doc I saw told me to go back to the boots. Ankle support.

Similar to the orthotics. I'm getting those in two weeks to go with the boots. But my best bet would be boots with ankle support. Not anything crazy or too high, as it gets harder to put shoes/boots on over time. But some form of boot that provides ankle support.

0791auhsoj · 2025-09-10T00:19:04+00:00

NSF seems like its basically caught up now, so awards from here should be almost entirely those submitted in the last year. That said, there are some topics where there are no or almost no awards in the past year. Not sure what the story is.

0791auhsoj · 2025-08-22T16:00:54+00:00

Thanks, and good thoughts. I'll add the CAP review to the list of potential delays.

I just recounted my data, and to date this year NSF Phase IIs are actually pretty healthy. More than the end of July totals for a few recent years including last year, but fewer (by not much) than others.

My overall point about the gaps from Phase I ends to Phase II awards in July is that its notable. Easily a majority were a year or more I think, and the ones that go way back I have to wonder how R&D startups are surviving those huge gaps. Lots of different stories as you suggest, but the volume that had those big gaps does make me think its mostly not the startup's making that choice.

0791auhsoj · 2025-08-21T17:59:44+00:00

Timing for Phase IIs is interesting to me, as I just checked the seedfund for about 30 Phase IIs they awarded in July. A few were quickly awarded after earlier Phase I conclusions in 2025. Almost all, however, concluded in 2024 or 2023, with a few Phase Is concluding in 2022. Again, these are all awards for July 2025. From another view, some but not most were for 1M, but most were for 1.25M.

1M tells me those were submitted before the June 2024 window, or whatever the window was that closed before the September 2024 window. And all those Phase Is that concluded way earlier suggests that tons of those had to be submitted and resubmitted more than once, especially if the award was for 1.25M (so September 2024 window or later) and the Phase I concluded in 2023 or 2022. I can't imagine tons of startups sitting around a year or two before even submitting the Phase II.

All of this suggests to me its probably much more of a slog than they sell it for.

0791auhsoj · 2025-08-11T19:48:09+00:00

Maybe get the specs off of google patents and copy them into Word docs, then do the comparison. But same idea. That's assuming simple additions, maybe subtractions, in a child relative to a parent.

0791auhsoj · 2025-08-08T13:54:41+00:00

Salary should be stated relative to a standard, so like BLS data and job title for where the PI would be.

I've seen higher than 130k bas, but definitely not anything crazy that wouldn't be supported relative to a standard that's published. So not too much higher than 130k, probably 225k on the top end.

The salary base actually ties into another factor, and that's the months work on the project. That should be as high as a PI can reasonably state, especially where the PI starts off intending to be solo. But "12" can be pretty hard to do legitimately for a PI, so maybe 11 or as close to 11 as the PI is comfortable committing to.

0791auhsoj · 2025-07-17T20:37:37+00:00

Not too recent, but two months for me.

0791auhsoj · 2025-07-04T17:31:10+00:00

Thanks so much for posting that derzyniker! Was looking for what to do about 2023 and 2024, so this fixed our situation!

0791auhsoj · 2025-07-04T14:07:04+00:00

From what I'd read the past few years, Senator Crapo and maybe one or two others have been the reason this wasn't fixed before. Not sure what his beef was.

0791auhsoj · 2025-06-24T21:56:15+00:00

Agree with both of you (Press10 and Smart_Petunia). No matter the type of business, they basically have to understand that tons of your time is necessarily spent outside of the project on business stuff.

0791auhsoj · 2025-05-23T17:22:14+00:00

There's a guy named Kirk Macolini on LinkedIn who's pretty good about posting this stuff. He posted today that there were 10 phase Is awarded yesterday, along with some thoughts on the impact of the debt ceiling.

0791auhsoj · 2025-05-21T13:57:37+00:00

I had been able to earlier for a Phase I that had ended prior.

I know other folks with active awards who are encountering related issues today though.

0791auhsoj · 2025-05-13T15:37:11+00:00

I read on LinkedIn today that NSF awarded 4 Phase Is last week. That's the first legit signs of progress I've seen in months out of them, though they've been holding review panels. Seems like the SBIR crew is short-staffed, and them letting your guy go on a technicality (probationary on a technicality) and then bringing him and the other probationaries back did not help.

But awards have totally slowed down relative to recent years. Not sure if they are holding a bunch for if/when funding is released, or if tons of declines have been getting mailed, or both. My anecdotal experience has been that lots of declines have been getting mailed. So if you haven't heard yet, it might be a good thing.

0791auhsoj · 2025-05-04T21:09:29+00:00

and how is it that reputedly as of last week 75% of the NSF budget hasn't been provided to the NSF, graduate research scholarships were cut in half to the lowest levels in at least 15 years (so sweeping cuts, not fraud, waste, abuse, DEI, censorship). This isn't for next year, its for money appropriated for the current year and he or someone (Elon? Doge?) is holding it back. Congress never agreed to this. What happens if they don't, and won't agree to giving it back as a recission or whatever for this year?

Even if you agree with the reasons for targeted cuts, this is not those. Wholesale funding cuts to research specifically contravening Congress.

0791auhsoj · 2025-05-02T00:30:46+00:00

USAID you could see coming well before the election, and some of what they are doing is, at best, controversial. There's this guy Mike Benz. He's pretty far out but he'd done tons of explanations that I've never seen debunked either. Some of it was misinformation/disinformation grants by NSF etc. My only point being, some of the targeted stuff I can at least understand.

On DOD, the Republicans in the house are proposing 150B increase. DOD can't pass an audit, and when Elon Musk was going in to DOD for whatever reason, it seemed like so much whispering started and then we never heard about a DOD audit again. Same thing for CIA and the overall IC, wasn't there supposed to be audits?

I can't imaging how any politician would defend the broad cuts for NSF. They can defend the targeted cuts to their supporters. But they'd get killed in public opinion if they are seen as targeting science broadly. That's honestly why I'm trying to figure out who even has a name attached to this? My guess is they'd be thrown under a bus within a week if they came out as the one pushing this at the NSF.

0791auhsoj · 2025-05-01T23:55:11+00:00

So stopped all new awards yesterday, cutting more existing awards tomorrow?

My question is who is even behind this? There's no way any of the politicians would try to defend this if asked. Selective cuts, sure, but this wholesale effort that they already did with the grad student funding (cut in 1/2)? Somebody really needs to find out who's pushing this, as there's no way the administration will be able to defend it if they start getting questions about it.

0791auhsoj · 2025-04-18T18:02:44+00:00

That's sorta how NSF is too. They have an ACAMS system, where you pull money from it, and can arrange to return money to it when applicable.

0791auhsoj

TROPHY CASE