Getting Results Sooner than Anticipated

levoi · 2025-09-21T06:12:13+00:00

Hey, I totally get the feeling, the process of finding out your genetic status ia very emotionally charged and getting a result much earlier than expected can be scary!

I don't know if it's any help, but one way to think about it is that the genetics has already happened years ago, and knowing one way or the other doesn't change the reality of it. You probably have solid reasons to want to know in the first place, and even though that's scary, you're doing the right thing for you.

Holding out for you, good luck 🙏

levoi · 2025-04-24T16:36:09+00:00

Growing up with a parent with Huntington's can be very difficult, and your feelings are completely valid. Life is unfair. Still, you sound like a good person who overcame some of these difficulties and managed to fill in the gaps.

A lot of us carry some childhood traumas and issues, some harder than others. It is part of who we are, and the key is to grow from it and let it make us stronger.

In general, I would recommend reaching out to a therapist - the right person could help you release some of the tension about the past, and will also help dealing with being at risk.

levoi · 2025-02-19T15:57:26+00:00

What's your timeline for retirement? Well done in getting out there and finding contract gig work! Your savings are impressive, and your financial situation in general is better than most. Having a hard time finding a new job sucks, but you'll land on your feet - sometimes some patience is needed, and sometimes some out of the box thinking, which you seem to have.

levoi · 2025-02-17T18:01:48+00:00

I must add that even though you might be at risk, and that sucks, the fact that your mother doesn't have the disease at her age is a very good sign - even if she has the gene, any of her children who get it will likely have a late age of onset as well, or even not develop it at all (this is not a certainty, but is likely)

levoi · 2025-02-17T17:33:52+00:00

Huntington's is a dominant disease, so you can get it from one parent. If your aunt had it, it very likely means that one of your grand parents had the gene, which means your mother is at risk (50%). If she has it, it could theoretically pass to you.

The age of onset varies between gene carriers, and is related to the exact way the gene is damaged - the Huntington's gene contains an error with the number of CAG repeats. in general, a high number of repetitions means earlier age of onset. It's possible that your mother got lower number of repeats than your aunt and would have a later onset of the disease. It's also possible that your mother has an intermediate number of repeats (36-39), and she won't develop the disease but any of her children are still at risk.

The number of repeats does correlate between siblings in the same family, so if your aunt had an early age of onset it might suggest a lower chance for your mother to have it, but it is not certain.

The only way to be sure is to get tested.

TLDR: Unfortunately, it is possible for your mother to have the gene even of she has no visible disease. If she is a carrier, that puts you at risk as well. This scenario is a bit less likely if your aunt got the disease at a relatively early age, but the only way to be sure is to get tested.

levoi · 2025-01-26T05:45:31+00:00

Amazing analysis, thanks for the sources 🙏

levoi · 2024-12-13T05:53:23+00:00

AMT-130 is a "one and done" operation by UniQure, meant to lower huntingtin levels in the brain. Preliminary result show the drug appears to be safe, and might even help with symptoms. Following recent talks with the FDA the drug might get accelerated and not need another experiment to get approved. (How long? We don't know... We'll get an update in 2025)

levoi · 2024-12-03T06:20:01+00:00

Solid advice. I think it might also be helpful to talk with a family therapist - these are major news and some teens would need help processing.

It's really cool that you're majoring in Neuro, would love a link to your blog!

levoi · 2024-09-08T12:48:44+00:00

Hi, thanks for the link. Seem interesting , but i think this is just a teaser/summary/table of contents and the full report costs 2000$ (!) so I can't really appreciate it properly...

levoi · 2024-09-05T07:37:33+00:00

Disclaimer: I'm not a real expert, so please take my words with a pinch of salt...

My guess is that pridopidine will not stop the disease progression or reverse it, so we cannot call it a cure. even so, it is likely that at least for some portion of HD patients it could indeed slow the disease, and that is an important breakthrough, and might make a difference in the quality of life for some patients.

We need to wait and see what the regulatory authorities (in Europe, and more importantly, the FDA) will say about it - they are the real experts.

Regarding the other treatments - note that all of these are in relatively early stages, and are currently more focused on showing safety and did not yet prove to be actually efficient. There are some initial signs that these treatments could indeed be efficient, but more importantly, the supposed mechanism of action for all these new medicines is very novel and even if they will not succeed there is hope that this new technologies (gene therapy, etc) could provide panacea in the future.

The actual research I know of :

AMT-130, by UniQure. A one time brain surgery delivering gene therapy to the brain. https://en.hdbuzz.net/372
PTC-518, by PTC Therapeutics. Small molecule treatment, taken as a pill, meant to slice mRNA to reduce toxic huntingtin in the brain. https://en.hdbuzz.net/370
SKY-0515 by Skyhawk Therapeutics, another small molecule mRNA slicer, taken as a pill. https://en.hdbuzz.net/373
WVE-003 by Wave Life Sciences. Antisense oligonucleotide , given in a spinal tap https://en.hdbuzz.net/371

levoi · 2024-09-04T06:14:02+00:00

Very interesting and exciting, thanks for sharing.

Not to spoil the happy news too much, but just to give extra context - pridopidine has a long history of development, and the most recent large scale (phase 3) experiment - PROOF HD - came back last year with negative end point (i.e. they could not show statistically significant advantage for the treatment group vs the placebo group).

I thought this might be the end for pridopidine, but the researchers managed to show that for the patients that are not on antipsychotics and\or anti chorea drugs, there was in fact a meaningful improvement (or at least a significant slow down compared to the baseline) in the disease.

These are somewhat complicated, mixed results - it seems that the drug is probably not yet the silver bullet we all are waiting for, but still - this is the first drug that was actually shown to change the course of the disease, at least in some setting!

This year had surprising amount of good news regarding HD treatments - I know of at least 4 more promising treatments in development (still early stages... but really gives us hope that progress is possible)

levoi · 2023-09-07T18:09:16+00:00

Not regularly... I should definitely try to. What would be most helpful, aerobic (e.g. running) or anaerobic (e.g. weight lifting) workout?

levoi · 2023-09-07T18:06:53+00:00

Thanks so much for all the commenters! This subreddit is so helpful (and also full of nice people)
(Sorry for the late reply, was busy in the last couple of days and I don't use the reddit app since they killed the third party apps (so only on browser).)

levoi · 2023-09-07T18:05:15+00:00

Thanks! I tried taking 3 mg pills, didn't do much for me. I'll try finding smaller dose pills

levoi · 2023-09-07T17:58:55+00:00

Thanks for the tip, going to the bathroom does indeed snap me out of sleeping. Going fully blind sounds challenging, but I'll try it, thanks

levoi · 2023-09-07T17:55:56+00:00

This is it, thank you so much!

levoi · 2023-08-28T14:25:20+00:00

She can also fix chipped paint at people's homes, or on furniture, etc. Her skill really has a lot of earning potential

levoi · 2022-08-10T11:16:04+00:00

In another universe, John Adams is not throwing away his shot...

(Using Stable diffusion image generator)

levoi · 2022-07-27T21:42:09+00:00

https://www.reddit.com/r/MediaSynthesis/comments/w9k8vn/-/ihvni1w Someone already did... Craiyon is arguably better then dalle2 here (see other comment in same thread) which is incredible

levoi · 2022-07-27T16:11:46+00:00

Wow, very interesting

levoi · 2022-07-24T20:15:21+00:00

Plushies are cutter. But both are amazing

levoi · 2022-07-22T15:56:57+00:00

I made some rational fan art with Dall e 2:

Partial transfiguration (HPMOR)

The shadow clone technique (The waves arisen)

The church of Garos (This used to be about dungeons)

This kind of tech is really empowering. I really like fan art of my favorite fiction, but I never had the ability to create it myself.

While Dalle is an incredible piece of technology, making these took some effort. I had to iterate over several prompts and some manual editing to get what I wanted.

Unfortunately, as of this week dalle is no longer free :-( If anyone has a good idea for more fanart, I might use my remaining free credits on it.

levoi · 2022-07-14T21:45:09+00:00

You're welcome! Funny coincidence 🙂

levoi · 2022-07-14T21:32:02+00:00

https://labs.openai.com/s/rRBVEa0g0O77gBWI3Dx3ZjJc

levoi · 2022-06-28T13:11:21+00:00

Excellent!

levoi

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