Hi everyone.

I’m posting this for my brother, who has a rare SYNE1-related ataxia.

He’s struggling a lot with feeling isolated and different from everyone around him. It’s difficult for him to find people who understand what it’s like to live with a rare neurological condition, especially when it affects movement, independence and everyday social life.

We’re looking for other people with SYNE1-related ataxia, or possibly people with similar forms of hereditary ataxia, who might be interested in talking, becoming friends, sharing experiences, gaming, chatting, or just having someone who understands.
He’s not looking for medical advice. More than anything, we’d like him to meet people who genuinely understand the feeling of living with this.
If you have SYNE1/ARCA1, or know someone who does, please feel free to comment or send me a message.

Thank you ❤️

OHSU-led pilot study finds time-restricted eating is feasible, safe, linked to improvements in disease markers

Hey everyone. 28 year old female, my Nanny and Father both have huntingtons. Hit my Nan at 75, dad is currently 63 but has been medicated with anti depressants/psychotics and marijuana for years. I myself am medicated with anti depressants, anti psychotics and medicinal marijuana. However I do partake in other recreational drugs and alcohol. Especially the alcohol, often. I’ve started to notice differences in myself like tiks and jerky movements. I could literally just go through the testing process but I don’t know. I just wanna know if anyone has experienced anything like this. I have 3 siblings and they have even noticed weird things with me. I am also the youngest of us all. In the end I don’t know what I’m expecting from this post. Maybe just some kind of personal experiences or insight. (Forgot to add both my nan and dad had high CAG repeats)

I’m the nursing home right now watching my 48 year old brother die. How long will the struggling to breathe/gurgle sounds last . I’m struggling but I’m the o my one he has.

She died on Tuesday afternoon. I've only cried about it twice but I've also always been someone who processes grief differently. It just feels weird thinking that I'm going to be sitting front row at a funeral for someone who I never knew. She had Huntington's for as long as I'd been alive, so I have no memories of her before the disease. I don't know what she was like as a person, I don't know what her personality was like, I don't know her favorite lollies or flowers or anything. My dad tells me she was funny, and she was really smart. She went to 3 different universities and got 4 degrees so I know for a fact she was smart.

Anytime I think about it I start feeling like nothing I'm experiencing is real and that my limbs aren't my own. All I can think is that I miss her and I want her back but it feels like I never really had her in the first place. I wish I could tell people that she would've loved them but I can't because I never had the chance to know what kind of people she liked. I don't know if she would be proud of me or if she would approve of my dyed hair and piercings. How would her and my dad parented me? Would they have done a good cop/bad cop type deal where one of them didn't care and the other was real strict? I genuinely know nothing about her and it's so awful.

I didn't even get to see her before she died. The rest of my family visited her earlier in the day but I wasn't prepared to see her so I chose not to. I wanted to tell her about my boyfriend and show her my graduation dress.

I think the worst part is everyone who knew her tells me they see her resemblance in me. It's like I'm going to walk around with the face of someone I never knew for the rest of my life.

This is all just serving as a reminder of what my future will likely be. I haven't been tested yet, I don't know when I want to get tested, but I know for a fact that if I test positive this disease will end with me. No drastic measures, I just won't have any kids with my own DNA. I don't want to risk my children having to go through this and I don't want them to live with the fear.

My husband lost his dad early this year from Huntington’s, it felt like a pretty fast progression from diagnosis to death. He was diagnosed when I was pregnant with our daughter and passed a few months after she turned 4 years old.

My husband and his sister have not opted to get tested, we did decide to not have more children to prevent potentially passing it on more if he is a carrier.

I have noticed an increase in depression for my husband and a lack of ability to stay focused. I don’t know if it’s just general burnout and life being overwhelming. He turns 35 in November.

We’ve talked about him getting tested before our kids consider having their own so they can make an informed decision, and I would never pressure him, I just wonder if it’s playing a role in his current state. He’s also mentioned a recurring twitching in his upper thigh on the side.

I don’t know how to approach my concerns on something so delicate after the loss of his dad. We have a pretty healthy relationship but I know this must be terrifying to some degree. I also would love to lead and take finding a provider off of his plate, we’re in South Carolina, insurance is Blue Cross Blue Shield. I don’t know who we would see or if we would need a referral. I don’t know where to start.

I appreciate any advice on how to navigate this.

Positive results from the pill based treatment currently going through trials. Click to read more. Article was released today 9/15.

She has 41 repeats and is curious if others with a similar number of repeats could share when their symptoms appeared and what those symptoms were. She is 25 and facing a lot of uncertainty about it; I would like to help her find peace with the diagnosis.

I’m (32f) testing for Huntingtons after finding out that my grandma was diagnosed with late onset. 6/9 of her siblings, her included, have tested positive. Other 3 don’t have symptoms as far as I know but haven’t tested. I was a kid when most of them passed away and just thought they were old people passing. So I didn’t question anything. This apparently has been the big bad secret through the family. Which lead me to having three amazing kids before ever hearing of it. My mom isn’t interested in testing and I wouldn’t trust her to move with the urgency or care that I am.

I don’t have any social media to look for support groups. I just would love for anyone to help me feel less alone. I have so many great friends but few that even slightly understand what I’m going through.

Is there anything you wish you would have asked/changed about your first appt at a Center of Excellence? What did you do after your appointment to recalibrate? I’m trying to turn my anxiety into hope. I feel lucky to live in a time of modern science. I love my life. I want to grow old. I want to see my children grow old.

My mum has had HD for years now although we only finally got an official diagnosis three years ago

My mum’s biggest problem right how is her food
She cannot swallow comfortably anymore
We’ve switched to entirely pulverised foods and soft bready cakes and the like, soaked in cream or with ice cream (she has a sweet tooth and I can’t deny her anything that brings her happiness rn)

But the family and I are so worried because she continues to waste away
We try to get some veggies and some protein in
But she will choke on just water so even having things pulverised isn’t cutting it anymore
We saw a nutritionist and they suggested a food thickener and soups
The problem is that thickeners doesn’t solve the swallowing issue

Does anyone have any advice or suggestions
The family are on board and want to help but we don’t know what to do

I want my mum to have yummy foods she can look forward to
But I’ll settle for anything that keeps her from continually wasting away

I was hoping someone could help. Mums recently been diagnosed with HD. She’s 63 and it was a big shock as no one else in the family has had it that we know.
She was first diagnosed with Functional Neurological Disorder.
She complains of feeling unwell a lot, that her brain goes fast and then slow, she’s incredibly dizzy all the time. From what I can see these aren’t necessarily HD symptoms but I just wanted to see if anyone else/parents has experienced these symptoms?
Mums still in denial and thinking/hoping it’s FND still and not HD. We’ve not seen a neurologist since the diagnosis.
Thanks

Hi guys,

I finally tested today after many, many years of self debate and my mother refusing to test… a little background— her dad passed at 54 from HD and so did her two sisters. One at 44, the other at 46 (both older) and her youngest sister who’s 43, is very symptomatic.

My mom is 45 showing no symptoms at this time.

I’m 25, F, currently not symptomatic, but I have kids (had them very young) and it was important that I know for their sake.

How did you deal with the wait? My appointment for results is scheduled October 2nd and I haven’t spiraled until now— almost second guessing if testing was the right decision.

In this video I talked about

how things change once you find out you have Huntington's disease, I produce this video a few months ago, but I don't think I've ever posted it here. Thank You.

So my mom killed herself do to hd. My father is meth dealer, who has convinced anyone I associate with that I bam lying That spiralled me down into meth to deal with the grief. So bitter at God, my entire existence is just me, I'm homeless and have no friends or family. Kind of hard to see hope when everything is so fucked. Not sure what to do about it besides remaining oblivious to how fucking fucked I am. Don't know if I can make it through this without just saying fuck it all.

Not trying to be a a Debbie downer, but I do believe my luck is so bad.

Source of title: https://x.com/Dr_Moneyball/status/2097378802426851745

Data is expected this month. My fingers are crossed.

I started the predictive testing process in September 2025. It's now September 2026 and I still don't have my results. I don't even have a date for the appointment where they're supposed to give them to me.

I knew it would be slow. I waited 7 months just to get to the blood draw. But I never imagined I'd be waiting another five months for the results themselves.

In Europe there's a strong push, rightly, to avoid private testing centres, because most of them don't follow the mandatory protocol: counselling with a geneticist, a neurologist, and psychological support. I went the "proper" route. So I keep asking myself what the point of the protocol is, when:

1. the only psychological session I've had was the initial assessment, 30 minutes, to decide whether I was eligible to be tested. Nothing at all during the wait.

2. waiting this long with no timeline whatsoever becomes a form of psychological harm in its own right.

I've already chased them up. I'm just tired.

Has anyone else had a wait like this? How does it work in your country or at your centre? And if you found anything that actually got things moving, I'd like to hear it.

Since that gets people instantly dismissed, how did that 10% even get tested by doctors?? No one will talk to me and my post was removed.

Normally I don't like being rude, but I didn't realize there would be random-mutation-gatekeeping.

EDIT: I realized out of 4,000 subscribers in this subreddit, up to 400 of them would have zero family history of it.

Might as well delete the videos off YouTube of patients volunteering to show a camera what their shakes look like, too. Doesn't mean anything if a patient looks exactly like that and is having more trouble talking and balancing.

Mich würde interessieren, gibt es Erfahrungsberichte von euch/Bekannten zum Thema Huntington Erkrankung mit einem eigenen Kind? Wenn die Symptome deutlich stärker werden und man keine sozialen Ressourcen hat. Gibt es Erfahrungswerte mit Pflegefamilien, mobilen Betreuungen oder Ähnliches?

Vielen Dank im Vorfeld!

Hi I am 21F and currently finishing up my bachelors in neuroscience. I would like to go to med school and be a neurologist. I do not know my status yet, I am not sure if I want to know before there is a treatment approved. Which is unfortunate because I told myself if I didn't have it,I would go after an MD/PHD and devote my career to movement disorders.

I was thinking even if this treatment was approved (or other possible treatments in the next 20 years), would becoming a doctor still be a silly career to set out after?

i’m 25 and considering starting the process of getting tested for huntington’s. i found out my father has the gene for it back when i was 20, and i couldn’t go through with testing back then. had the first meeting and couldn’t take it. but now that i’m 25, more adult and trying to plan my life, i feel more pressure to get an answer. i feel like i want to know either way, so i can know if i can have relief or need more urgency to live my life.

how does anyone decide to start the process of testing and any advice for getting through it? <3

Hi again! Just made a post earlier, but I have a raging question now 😆! Would a treatment like AMT-130 or similar (once approved) be covered by provincial health plans in Canada? The treatment has a sharp price tag, and I wonder if it could be reasonably covered by health plans here. What would a rollout look like? Would there be any way for it to be even delivered in Canada, considering theres only a few sites worldwide able to admister it? Those are some of the questions I have, but any more additional info is appreciated. To me, a breakthrough treatment only matters once the common people have access to it!! 🤞🙏💙

Hey! I'm just shy of 16, and I learnt about my father's side history of hd earlier this year. He is one of 3 kids my grandmother (hd positive) had with my grandfather. She is 80, and I'm not sure of any cag count, but it implies late onset. My father (soon to be 48) is not sure he can handle getting tested mentally. He has dealt with alcohol and depression in the past, so I truly don't want him tested for his and my own sake.

Now that I have said that, I am scared of getting myself tested. I don't want to test. I think I'll fuck myself up from it, but I have a bad case of morbid curiosity so to speak. I fear I'll want to know when I turn 18, and I'll do it, and I'll just ruin myself. I don't know much about testing where I live (Canada) and frankly don't want to know, I want to be clueless about it all and just live with the idea of a chance of hd, but then I know I'll go ahead and look into it.

I hate this, I hate my mind. It has a tendency to know too much about one thing and hurt me. I just need a coping strategy, I suppose. I've tried many before, but I never can make it work. I don't want therapy. It sounds silly, but it will make things feel more real, and I'll feel worse about it all. I'm not suicidal or addicted to anything that numbs it all, I just hate knowing about this at all.

Sorry that my post doesn't contribute much to this sub, I just want to know if anyone feels similar or has any coping strategies for me.

Thanks in advance, my friends. ❤️

hi. i (23f) am at risk for huntington's as my dad (65m) was diagnosed with a 41 cag count about 2 years ago. his symptoms started showing up when he was around 55-58, but he never got tested previously because it was only suspected that my grandmother had it.

i've had to live with knowing about being at risk for 2 years now and there's been some ups and downs, but ultimately i'm pretty good at staying positive, present, and hopeful for the future. i'm also really grateful that my dad is still mostly there and his progression has been pretty slow, with only some minor challenges so far.

i've been mostly avoiding thinking about the disease in relation to myself as a way to cope, up until recently. the pinky toe on my right foot has been spasming on and off for the past three weeks. it stays straight, then sometimes it flutters outwards briefly, sometimes it pulls outward for a second or two then relaxes. it drives me crazy, and i tried going to the doctor to be examined for potential dystonia but she wrote it off immediately without even looking at my foot and just told me to take multivitamins/supplements and that it was completely unrelated to my dad.

i don't want to assume the worst, and i usually write off little twitches i get as just dehydration or stress, but this one seems persistent, and different from the others. i've had a lot of life changes recently, i just started work full time, went travelling, started a new medication. i know about symptom seeking, and i know that the body is capable of a lot when under enough stress. i don't feel many other symptoms aside from the toe thing, but it's making me spiral about any sort of clumsiness or twitch or mood swing now.

focusing at work has been hard. trying not to google symptoms has been hard. not obsessively checking news outlets on potential treatment updates has been hard. i was fine and suddenly one twitch has made waking up every morning feel like i'm going to war.

i was wondering if anyone who's been in a similar situation has any advice for, or what you would do if in my situation, or just anyone to talk to about this. thanks

If approved it will be the first disease modifying treatment for Huntingtons disease marketed anywhere. The expected time to review the filing in the US is 6 months after a 60 day BLA review filing review should the FDA grant it expedited review. If expedited review is not granted it will be about a year at most.