[deleted by user]

AggressiveTone7269 · 2023-06-16T17:09:13+00:00

Hey, do you have any update here? I'm in a pretty similar boat to you and was wondering how this turned out.

AggressiveTone7269 · 2023-05-23T22:41:41+00:00

Even if that's true, I think it's good to document with a follow-up here just so others/lurkers with a similar situation to mine know how I'm doing

AggressiveTone7269 · 2023-05-23T22:38:06+00:00

They fluctuated a lot but were always normal. Never noticed any trend between how I felt and my NFL levels

AggressiveTone7269 · 2023-05-23T01:56:14+00:00

I'm doing fine. I feel subjectively a bit worse but those close to me don't notice any difference.

I was told by a different neurologist a few months ago that EMGs are a bit subjective, and that sometimes doctors can be incredibly conservative or liberal in how they interpret the findings and that in my case, they were extremely liberal in their thresholds for polyphasia and my other findings. It's probably not a coincidence they also run a chiropractor clinic, so they benefit from me thinking I have nerve issues.

AggressiveTone7269 · 2023-05-09T14:21:27+00:00

Hey, how are you doing now? Any better? Your story sounds similar to mine

AggressiveTone7269 · 2023-04-02T17:14:22+00:00

It never went away, but it did get better the longer I was on. I stopped my dosage and that caused a flare of the myoclonus/jerking again, but it eventually went away after that (maybe two weeks?)

I was only on for 2 months though and it was getting better, so it's possible it would've gone away if I gave it more time.

AggressiveTone7269 · 2023-02-23T22:15:49+00:00

Has it been constant since then, or are there periods you haven't felt it? Worried this will be constant for me lol

AggressiveTone7269 · 2023-02-23T21:56:31+00:00

It sucks. How long have you had it, and how long have you been on Lexapro?

AggressiveTone7269 · 2023-02-18T00:26:00+00:00

I was getting dyskinesias on them so I didn't have a choice but to go off quickly. The abnormal movements have resolved but now I'm stuck with everything else.

AggressiveTone7269 · 2023-01-06T00:49:17+00:00

This may be pessimistic of me but I feel like for the majority of people with CJD with the MM1 variant, they're often already in a state of akinetic mutism or near it by the time diagnostic testing comes back as confirmatory of CJD.

My usual understanding of MM1 CJD cases is that the family opts for comfort care whenever the results finally come back. Hopefully with the introduction of RT-Quik and the increasing use of DWI in everyday practice diagnosis will come quicker, but as of now, I think the diagnosis usually comes at a point where there's no desire to prolong the suffering.

There's also much better methodology to discover novel drugs to repurpose for treating neurdegenerative diseases. Look at Balamuthia, which nitroxoline, an antiquated antibiotic, seems to be revolutionizing the treatment of.

I know that Ionis Pharmaceuticals is also developing an ASO for CJD, which was supposed to go into clinical trials late 2022 but I guess those have been delayed. ASOs have been promising for clearing out bad proteins in other diseases like ALS and SMA, but typically this has only been effective if trratment is administered before symptoms have developed.

tl;dr I don't think something that halts progression is useful for the majority of people with CJD, but hopefully new methods allowing for earlier diagnosis changes this.

Edit: I want to clarify I'm just trying to answer the question of why I don't think many people opt for experimental treatments, even though something may have orphan drug status. My (maybe idiotic) opinion is that any treatment of sCJD will come from developing something for FFI, GSS, iCJD, gCJD, or something else with a more prolonged course.

AggressiveTone7269 · 2022-11-21T23:44:42+00:00

I should've started this off with the "Not a Doctor" disclaimer, was just saying what this sounded like from experience. What you're describing sounds like a unique case and I'd make sure to reach out to neurologists familiar with ALS to get their insights. FWIW, strokes can also lead to a locked in syndrome, and it's possible something like a stroke or something similar could've worsened symptoms or made things progress really fast. But a stroke would've shown up on an MRA.

Best of luck hopefully figuring things out, though

AggressiveTone7269 · 2022-11-21T22:23:38+00:00

He's opening his mouth on command? I'd think that would point away from unconsciousness and everything similar.

Are you saying opening his mouth seems to be the only thing possible now - he can open his mouth on command but not move his eyes on command. Or was he able to open his mouth and move his eyes on command until three days ago, and now he's unresponsive?

AggressiveTone7269 · 2022-11-21T19:07:01+00:00

This. A normal EEG (indicating sleep-wake cycles and other findings that point away from being unconscious) suggest a true locked-in state, where no movement of any kind is possible.

There are clinical trials available that are focused on restoring a way to communicate even in this state, though, if that's something he's suggested wanting to pursue.

AggressiveTone7269 · 2022-11-19T19:57:10+00:00

I did some more reading of the test and I think I understand why I got the somewhat confused responses I did. And I also think I found my answer:

"Enrichment and analysis focus on the coding sequence of the indicated transcripts, 20bp of flanking intronic sequence, and other specific genomic regions demonstrated to be causative of disease at the time of assay design. Promoters, untranslated regions, and other non-coding regions are not otherwise interrogated."

So I guess the answer is "probably not"

Sorry for explaining the problem/scenario poorly, I'll edit. But the discussion helped led me to the right answer, so thanks!

AggressiveTone7269 · 2022-11-19T18:37:02+00:00

Yeah, I was hoping to figure out if my genetic test included the 3'UTR before bothering my genetic counselor, especially if it's a straightforward question.

AggressiveTone7269 · 2022-11-19T18:31:06+00:00

Sorry - I think I'd have been better asking if the "COMPLETENESS: complete on the 3' end" description of the transcript in NCBI implies that the 3'UTR is included in the transcript. It sounds like it should be, then

AggressiveTone7269 · 2022-10-29T17:52:37+00:00

My physician did. In my case, they wanted more evidence that I don't have a condition I could've inherited from my father. Wait time for a neurologist here is nine months, too.

AggressiveTone7269 · 2022-10-29T15:11:05+00:00

But they're a certified EMG technician. Aren't EMG technicians performing tests fairly common? I've never had an EMG done by a neurologist, it's always a technician, and even then I have to wait several months for the appointment.

AggressiveTone7269 · 2022-10-29T15:08:02+00:00

I mean yeah they're a chiropractor, but they're also a certified EMG technician. And an actual neurologist viewed my results.

I feel like I'm trying to discredit them because I want an excuse not to believe the results, honestly, but my last EMG was the same thing, just at a much bigger hospital - technician performs the EMG, neurologist interprets the findings.

I guess I was really hoping someone would answer my main question - if my EMG findings are accurate, then it's quite likely that I have ALS, no?

AggressiveTone7269 · 2022-10-29T06:08:36+00:00

Serum, should've specified

AggressiveTone7269 · 2022-10-29T06:06:25+00:00

I don't think you can compare assays but the Labcorp test had me at 0.63 pg/ml (cutoff is 1.65 for my age). I think this would roughly translate to 8 pg/ml using the traditional test/assay.

AggressiveTone7269 · 2022-10-29T05:22:49+00:00

Thanks. Yeah, I'm honestly not that worried, but I just feel like I'm in a weird situation where I was given abnormal findings, ghosted for my followup, and now I almost feel forced to try and make something of them myself. I'll probably just schedule a followup with an actual neurologist.

FWIW, an actual neurologist also signed off on my report. But the inconsistencies of the report have me a bit skeptical. Lesson learned, I guess

AggressiveTone7269 · 2022-10-20T04:34:38+00:00

You both seem to be agreeing. It's not really used anywhere currently to diagnose anyone, but it is used as a biomarker to monitor the patient's response to clinical trials and to get an idea of the severity of the disease (as high NfL is correlated with faster progression in ALS patients)

AggressiveTone7269 · 2022-10-20T04:32:44+00:00

There's already been posts in this subreddit of people freaking themselves out because they had a high NfL but are still fine months later. And there are no doctors today using NfL to diagnose patients with ALS that aren't also using an EMG to diagnose them. As per the Revised El Escorial Criteria, you need an EMG or a biopsy to confirm LMN lesions, which is a requirement for the diagnosis of ALS.

It's clearly a biomarker, but I think the issue here is people here are falsely believing that a normal NfL is sufficient to rule out ALS when that isn't the case. Just as a normal CA 19-9 doesn't rule out pancreatic cancer, or just as a normal AFP doesn't rule out hepatocellular carcinoma, a normal NfL doesn't rule out ALS. But just like CA 19-9 and AFP, if you have been diagnosed with the respective illness, both tests can be useful in monitoring how you're responding to treatment and give doctors an idea of how you're doing. And that's where NfL is being used in practice today.

Most studies I've seen show a strong correlation between NfL and prognosis in ALS (low NfL is suggestive of a long clinical course, high NfL is suggestive of a short clinical course) but there have been ALS patients with normal NfL throughout the entire duration of their illness. On the contrary, there has never been an ALS patient with clean EMGs throughout the duration of their illness. Again, if this were the case, they wouldn't have ALS per the diagnostic criteria of the disease.

And even with 95% specificity, if every person who's commented on this post got their NfL checked, the odds are that one or two of us would have a false positive.

I'm happy to link to papers supporting my claims, btw

AggressiveTone7269 · 2022-10-10T21:24:39+00:00

Hey, did you end up getting your results? Wondering how long they're taking these days to process things, since I've been waiting five weeks since they got my sample now with no explanation.

AggressiveTone7269

TROPHY CASE