I am 30F, diagnosed with Spino-cerebellar ataxia 2 weeks ago. This means that I will slowly lose the ability to walk, to control my limbs, my fingers, my speech, etc. and this decay will probably start by the time I'm 40. I'll likely be in a wheel...

Well look on the bright side, in the next ten years we will probably have more developments in the realm of prosthetics/exoskeletons. You will get to be Ironwoman!

Are there any promising treatments that are in development?

Yes, that is what my husband says :D I went to the People In Motion show (an exhibition for people with accessibility/mobility issues) a few days ago here in Toronto, and saw some cool stuff they already have. Wheelchairs with treads on them to go off-roading! Chairs that can stand you up! Prosthetic arms with fingers that can help you hold things, that attach onto your wheelchair arm!

There has not been any studies that I or my partner have been able to find, but I'm meeting with the neurologist later this month and will be discussing that with them.

The iBOT also was a wheelchair that could go upstairs and lift you to eye level, but was killed basically by overly-onerous medical-device rules, and insurers who didn't want to pay.

https://en.wikipedia.org/wiki/IBOT

Devices like this are very important, but are deemed unnecessarily frivolous. There needs to be much more pressure on the insurers to support these types of aids, or else innovations just won't happen.

You're absolutely right.

This likely means you'll lose your ability to climax? Doss this make your libido more dire?

No idea, but that's something I hadn't even considered, haha. I guess I have to have to cum as much as possible in the next decade! My husband will be thrilled :D

lol you're awesome:)

<3

I'll be the terrible human being and ask a really difficult question.

While your mind will remain sharp, your body will decay. Have you put any thought into assisted suicide for the time in which you are no longer able to do it yourself, if you so desire?

I hope for better treatments for your disease and that you can live a long and productive life. Good luck to you.

Yes, I have, but it's not something I've put too much thought into yet. I think I probably will have a much firmer stance in the "Yes" field as I get older and the atrophy starts to happen.

I'm guessing your condition is the same one that Aya Kito had? I just can't fathom how it'd feel being slowly imprisoned inside your own body. Has there been any improvement in the medical field regarding the treatment of this condition?

Stay strong!

I'm not familiar with Aya Kito, but a brief glance through that wikipedia - yes, it's the same thing. And yes, the thought of it sucks.

With regards to improvements in the medical field, there hasn't really been too much that we've come across (and we've been keeping abreast of it for my dad). There was a stem cell treatment that he went to China for a few years ago - unfortunately, nothing came of it, but he did say that the physio was helpful!

While I don't want to say anything on likelihood of a cure I thought you'd might find it interesting to hear about some of the progress in the field. While I don't have a medical background, as part of my (potential) computer science ph.d I'll be working with the same faculty that got a nobel price not too long ago. (NTNU st.olavs, but we're not affiliated with the Kavli people who actually got the price, but it's the same hospital).

Currently we're setting up nerve cell chambers, so called micro electrode arrays in order to study neurons grown in vitrio. We can stimulate the neurons with electrical signals as well as record what sort of reaction we get, giving a very interesting perspective on what actually goes on in our little "brains".

Sadly this doesn't translate to us making terminators anytime soon, more like we're trying to do very simple things by figuring out how their little brains correlate input and output, but maybe in 20 - 30 years we'll be that much closer to something that can help restore mobility.

Now, I haven't actually gotten the spot yet, but there's a pretty high likelihood, and even if not the project is still ongoing. One of the co-supervisors has done much research on repairing spinal cord injuries, so who knows, maybe we'll figure out how to fix you. A little hope can't hurt

This is really interesting, and great to know - thank you for sharing!

What is it like knowing this? And what is going to happen now, in terms of having kids and preperation. etc.

It sucks. Like a lot. I have been having wild swings of zen-like acceptance and crying uncontrollably. There has been one full day (a Sunday, thank god) where I just cried ALL day. I took bathroom and food breaks, but otherwise... waterworks.

We probably won't have kids - although that's something we were kind of bandying about even before the diagnosis came through. In terms of preparing my body, I'm trying to make better choices because I'd like to be in better shape. Also, we're going to be doing a LOT over the next decade or so in terms of travelling, physical activities and whatnot. That's the plan anyway.

Medically, ,my next step is to see a neurologist and get an MRI - they will check to see if the deterioration has already started in my cerebellum. I worry that it has because I already have issues with balance.

I think it's a reality we all face. Depending on how you look at this, you're lucky. None of us are guaranteed another breath. None of us are guaranteed an ability to walk, think, eat, remember, see, hear, and/or all the other things we take for granted. Everyone of us on earth has troubles ahead of us but you... You know in advance what troubles you will face and have time to prepare for them. You have time to be strong and face them. For many of the rest of us, we will be hit unprepared and expected to survive.

Take what you have and make it your own. Don't let it control you or who you are. You are not defined by a disability but by what abilities you do have!

I appreciate the sentiment, but I really don't feel lucky.

Yeah that was dumb, anyway, do travel, and enjoy life. And I'm very certain in 10- 20 years, they will have amazing tech. Technology has advanced 100 times in the last 20 years.. with all the new info, I believe we can be even more efficient in advancements... I hope things go well, enjoy what time and freedom you do have.

I just got done battling moderate- severe case of IBD, and I survived after surgeries. I basically lived in the hospital and was expected to die before I even turned 21... now that I survived, I will live in a better way.

Please be forgiving of people when they write something like the guy above, or when they say "others have it worse" or "sometimes it's God's will for people to suffer". Forgive those people and move on, don't get hung up on moments like that. They don't know what they're talking about..

That's very true.

That god stuff is incredibly grating. My dad is a magnet for those weirdos on the street and he's MUCH more patient than I am, lol.

I go to church, and have grown up in a Christian family, and I'm telling you, those people say what has been told to them, but have no idea the depth of those words or the meaning of it. My sister overheard someone talking about me "if the body is sick, that means something is wrong with the spirit." People from our church said this!! I was a 17 year old at the time who was recently diagnosed with inflammatory bowel disease, Ulcerative colitis version. You just have to let it go. People often can't offer you love and comfort because they don't have any to give. You can't get mad at a homeless person because they can give you money or food, they have none to begin with. Rely on yourself as a support, or God. People fail. Also, sounds like you have an amazing husband:) I hope technology advances enough to help you. Enjoy life while it's good:) 10 years is either a long time or a short time, depends what you do with it.

That's very profound; thank you :)

And yes, he's lovely :D

I think his point is that its all shit. so you're no less lucky than the average person. I mean, many are 100x less lucky than you, and many 100x more lucky. So don't despair too much. We're all in this shit storm together.

I'm sure he didn't mean anything maliciously :)

Internet hug goes out to you!

<3

Actually, all that is still true for her. She knows no more than us. She could still get run over, develop cancer, have a heart attack, etc... So it's still worse, since the average person can just pretend they're some sort of immortal, usually under gods grace, this girl knows shes damned either way.

I keep coming back to your comment. It has really resonated with me. You've been able to articulate something that I haven't quite been able to yet. Thank you.

I am a 44 year old male diagnosed with spinal bulbar muscular atrophy 14 years ago, different disease but similar prognoses. So far no wheelchair for me but that time is coming. I have had 14 years to learn to accept this but some times it still sucks. It sure can motivate one to do what it takes to enjoy life though. I wish you all the best.

I'm sorry to hear that, but glad to know that you've been able to find motivation in it :)

Have you started doing an cerebellum activation activities? There are ton of things that you could be doing now to hopefully keep your cerebellum active as long as possible.

No - I'm not familiar with this. I'll be sure to ask my neurologist when I meet them later this month.

I don't know if it will help in your case, but I had a concussion with cerebellum involvement/deficits and I've been able to seriously improve them. So fingers crossed for you.

Thank you for telling me about it - I'll definitely look into it further. I'm glad it worked for you.

What are your favorite pizza toppings?

Spicy italian sausage, mushroom, and chili flakes.

Hello! Thank you for sharing your story. This is really interesting because I am a research coordinator at a movement disorders center and we see people with SCA all the time but I never see it discussed or mentioned outside of my work. My question is, what type of specialist do you go to? Is he a regular neurologist or a movement disorder specialist? If you are looking for doctor recommendations in your state (if in US) or country, message me! I highly recommend establishing care with a doctor who specializes in these types of disorders.

I'm in Canada but thank you for the offer! :) The clinic I got tested at was the genetics arm of a high-risk OB/GYN clinic (as I mentioned elsewhere in this thread, I started this process to be able to have an informed conversation about family-planning with my partner). Now that the test has come back positive, I will be seeing a general neurologist and having an MRI. After those results come back, I'll be seeing a movement disorders-specializing neurologist. That's the current trajectory of medical stuff I have right now anyway...

Do you have an advanced directive outlining your wishes should you no longer be able to make medical decisions?

It's only been two weeks, so no.

I lost my father about 12 years ago for SCA, recently my uncle was diagnosed with the same, and we got to know about the name of the disorder only recently. Quite a few people in close family have died because of this. I'm pretty scared and I'm positive that I have the disorder but have not found the courage to get the tests. How did you get the courage to get the tests done? Is there any benefit at all for getting this done?

That's awful; I'm so sorry you have to go through that :( A lot of my family has it as well.

I really wish I could tell you definitively: "THIS is the thing that gave me courage!" but unfortunately... there was no one thing. I just sort of built myself up over the course of 5-6 years, and got to a point where the stress of not knowing was worse than any possible outcome, so getting it out of the way was more for my mental peace of mind than anything else.

The benefit to getting it done, for me, was that my partner and I were able to have a fully informed conversation about whether we wanted kids, and what a life with and without kids would look like.

Thanks, good to hear that it took 5 years. Its been a few months for me so might find reason to do so sometime in the future. Until then I try to not to worry about, doing the same as you. Travel and do things that I would like to do. Luckily not married yet so do not have to worry about kids.

My only piece of advice is that if you have a serious partner, you should tell them about the possibility of this before you settle down together. And, in telling them, you need to give them an out. They are entitled to that. And if they decide it's a dealbreaker... well, better now than in 25 years when you need help being fed and bathed.

How do you feel about all this? I know it's obviously some pretty shit news to receive but how do you feel? Scared? Determined to do something first? Don't care? What's your thoughts?

I'm scared. I see what my dad deals with, and I'm going to go down the same path. As debilitating as it all is physically, the hardest thing for him (I think) is that he is mentally completely fine - in fact, sharper than he was before because he spends so much of his time now reading and writing and whatnot. Being treated like he's mentally disabled because he's in a wheelchair infuriates him, but there's not much he can do about it because his speech is so heavily affected as are his motor skills. All of that is going to be me. On the other hand, his independence is very inspirational. I worry that I will get angry and resentful, and since finding this out, I have definitely had some moments of deep despair.

But out of that fear and sadness and the sort-of timeline has come a sense of resolution too, i think - I'm very keen to travel, to explore new places, and try new things because eventually i won't physically be able to. It's definitely lit a bit of a fire under my ass.

I simply wished to extend good thoughts to you and your family.

thank you

Sorry to hear about your recent diagnosis. I was wondering what your ethnic background is, as I know SCA is most common in individuals of Azorean descent?

Thanks; I'm Indian.

I'm so sorry for everything, it's hard for me to imagine what you must be going through. You've said that you don't plan on having kids, is that because you don't want to possibly pass on SCA or you don't think you'll be able to care for them? Also, if given the option would you rather know about having SCA now and have the 10 years to plan, but also have the knowledge looming over you. Or have the symptoms come in 10 years, without you knowing they were coming.

I haven't really thought about why with the no-kids thing - thinking about it now though, i would say that it's both. Although I must admit there's some selfishness there too: If I have a finite number of years left before i stop being able to 'do' things, do I really want to spend those years caring for a couple of kids? And for some people, the answer to this would be a resounding YES - but it isn't really for me. Because honestly, when you become a parent, your life, your priorities, your finances, everything becomes about the kids - and that's how it should be. But I don't know if I really want that if I only have X years in which to really live my life before i start compromising. It's unfortunate that those X years coincide with the years required to have and raised kids, but I genuinely don't feel like I can do both. Living one kind of life means giving up the other.

With regards to knowing about the SCA ahead of time, I had wondered if it was perhaps better not to know, but I've decided that I'm happier knowing. I can't plan for the onset of symptoms, I can't plan for how severe they're going to be, but at least I can be prepared for when it all starts to go downhill (truth be told, i worry that it's started already because I have some balance issues - but I hope I'm just clumsy!).

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Thank you :) That's exactly what I'm doing. I have quit smoking, I'm eating better, and I'm working out - I've decided that if I have 10-15 years left in a fully working body, this is not the body I really want. I mean I'm fine with it and all, but I think I can do better :)

Not a question, just a note to say keep strong.

My sister suffers with Friedreich's Ataxia and is an inspiration. She was diagnosed in her teens (at Great Ormond Street in the UK). This is thirty years ago, so a diagnosis took over a decade. She has been unable to walk since 16 and finds verbal communication a struggle now.

However, what she HAS done is far greater than what she has let the condition take from her. She's travelled America with Journey of a Lifetime, swam with dolphins, been on stage with Depeche Mode and Muse multiple times (and some other bands I never remember), flew a helicopter and literally toured the world (not many countries left to go).

I've met a lot of great people through Ataxia UK. Well worth attending lots of these types of events.

Wish you the best x

Thank you - It is wonderful to hear about your sister's life; very inspiring :)

First off, my deepest condolences to you and your family. I'm not even sure what to ask, I'm very curious though. What's the long term plan? Is there any preventative steps or procedures to slow this process?

Thank you.

Long term plan is to probably not have kids, do a shitload of travelling, eat a ton of new and exciting foods, meet a lot of new people. Once shit starts to go south, I don't know.

Unfortunately, there's nothing that exists right now to slow the atrophy. Likely, as time goes on, there will be ways to manage the symptoms better (better wheelchairs, more intuitive tech, etc).

Well on the upside your short term goals will have you live a more accomplished life than some people's long term goals. With technology exponentially advancing there could be some hope outside of fancy tech too, but of course nothing is certain. I wish you the best of luck!

thank you!

Were you showing some synptoms this early? What are the symptoms, if any, besides having this run in the family.

No, I was not. I got tested premptively so that my partner and I could have an informed conversation about whether we should have kids.

Just realized I didn't answer the second parr of your question - early symptoms in my dad were (and I assume mine will be similar) an uncoordinated walk, slurring of speech, stiffness of muscles which causes spastic limb movements. Those were the most apparent.

What were the symptoms you first realized that started your investigation that lead you to this conclusion?

I didn't have any symptoms that lead me to get tested. My dad had it, as I mentioned, and kids have a 50% chance of getting it if a parent has it. Because my partner and I were talking about kids, I decided to get tested premtively so we could have a fully-informed conversation.

How much can a solid exercise and fitness regimen help against something like this, if at all? ... I feel like, if this were me, I would be like, "I'm going to exercise my ass off until physics/biology/whatever sets in, and then I'm going to fight with that fitness to try and overcome.

It can't. Certainly being in better shape will ensure that other, extraneous stuff (bad knees from being overweight, diabetes, etc) doesn't compound what's going on. But being in shape or out of shape doesn't have any affect on the SCA at all, or the way it progresses.

It may sound a bit callous, but have you thought of making a bucket list while you still have full use of your body?

It's not callous at all, it's a very reasonable question. I don't have a full-on list, but I have a few general things: Travel, eat new foods, and get in better shape.

If you are still here, I'd like to ask if you are thinking/have sought out support groups of your 'inevitable' fate? I was diagnosed with onset Parkinsons in my mid 20's. My fate lead me to recluse quiet a bit and not want to be with anyone. Then I met a nice young women and she accepts the challenges so I relented. But I have yet to extend out to group support.

I am very much here!

That's an interesting question. I really haven't considered group support at all. I honestly don't know if it's my 'style', if that makes sense. There's something calming about talking to you guys here because it's so anonymous and if I need to cry or if i get teary or whatever as I type this, I can, without too much of an issue. It's still very private. I can't imagine being this open and vulnerable face-to-face with strangers.

I had to come out and be honest recently about my condition due to loss of control of the nerves in my hands for a week. Since I rely on my hands for a job. It was affecting me completely, very uncomfortable and annoying. Apologizing for my mouse tapping the table due to random shaking is embarrassing. Even if my friends/coworkers understand, it makes me feel like I am impeding them in someway.

One thing I can say about everyone knowing is that there curiosity makes things easier on me everyday. I stress less over others finding out I'll be useless in 10 years, other than a personal vibrator to my SO. They google and ask questions and genuinely, but terribly, try to help.

Anyway, I am rambling. Stay strong and I wish you the best.

It's not rambling. I empathize completely.

That must suck so badly :( I worry that this kind of thing is going to happen at my work as well, over time. I haven't told anyone really.

Would you have children knowing that they could be born into the world with the same illness you have now or do you think that it's not such a hard knock life?

We probably won't have kids. Or if we decide later in the life that we are incomplete without kids, we'll probably adopt.

What was going through your mind when you realized when the news was going to be gone when if your being there today or was that more of a being done?

I'm so sorry, I don't really understand your question. Do you mean how did I feel when i first got the news?

I just read that you're in Toronto. I don't know what accessibilty is like there, I'm in Vancouver, my best friend is a quad so I have a fair bit of interest in accessibility and man this city does it well!

Question: what is it like in Toronto for people with mobility issues? Also How do you feel about knowing that you possibly will not be walking in the next 10 years? Would you prefer to not know?

Good luck with everything!

Toronto's.... ok. It's much, much better than many places in the world, but it's definitely not the global standard in accessibility or anything like that. Like I think maybe a third of the subway stops are accessible - IF that. Most of the 'happening' areas - downtown, midtown to a certain extent, are decent, but the further away you go from the city centre, the less accessible things become.

I wondered about not knowing, but I think I prefer knowing. It lets me plan my life - both as an individual, and with my partner.

Is this one of the things you would have been better of not knowing?

I wondered that, but then I arrived at the conclusion that I'm happy knowing. Otherwise, we may have just settled into a mundane, suburban life, had a couple of kids, whatever whatever. It's just what people DO when there's no roadblocks. And then by the time those kids are 9-10 years old, mom needs a cane and can't run around with them. By the time they're graduating, mom needs to get to the hall using the service elevator because the space isn't accessible through a wheelchair at the main entrance. That's not a life I want. And knowing this lets me and my partner plan around that.

How have your friends / family dealt with the news? Plus how do you wish they would act/do to help?

I'm always at a loss of what to do for family / friends in similar situations I never want to make them feel worse or that we need to talk about health issues. I try to keep things normal but its hard to know if that's what they need or if they want me to send them a care package or coddle them a little. So I'm always interested in how to support / ways that people going through health issues want to be supported.

That's a really interesting question. I haven't told a lot of people. That's part of the reason for this AMA actually - to give me a chance to talk about it without actually having to talk about it to people I know, lol. Just my immediate family, in-laws, and a handful of friends (literally, like 5 friends). No real reason... I guess I just don't want empathy, sympathy or pity except from a specific few people.

I wish I knew what I needed from them. I know it'd be so much easier on my friends and my family and my partner if I could verbalize 'This is what I need from you', but I really don't know. The easiest thing would be to pretend like nothing is wrong but a large part of me wants to be asked about it in the most brutal and honest way possible (the way people have done here). The thing is, if other people don't bring it up and you need to talk about it, you feel like an asshole for always bringing it up. Or maybe that's just me. I guess I'm still figuring it all out.

Have you got a list of things you'd like to do while you're still able? And is there any chance at all, that although you have the markers for it it won't actually manifest? (not happening to me, still desperate for a fairytale ending here).

I can't imagine the emotional roller coaster that you must be going through just now, and I know that it makes no difference whatsoever, but huge virtual hugs x

I thank you for your kindness :)

Unfortunately, it will definitely manifest.

I want to get into better shape, and I want to travel more, and I want to eat new and exciting foods!

What food are you looking forward to trying most?

I kind of hope I haven't even come across it yet, and it's just some random streetfood in Korea or Nicarauga or something!

What is on your "to do before things kick into high-speed" list?

I want to get into better shape for sure. I'd like to do a bunch of travelling as well. I think the money we'll save on not having kids right now will be spent seeing the world :)

Is they anything you can do to prolong the time? what I mean by this is excise to develop stronger muscles and eating healthy.

Has the doctor said anything like this ? I am wonder if this will help you and potentially others.

Being in better shape and general good maintenance will help in that it won't compound the SCA with any extraneous issues, but it will have no effect on the deterioration, or the rate of deterioration at all. Like, if my arms are stronger, I can haul myself out of the bed and into the wheelchair easier, but I'll still need the wheelchair.

It is unavoidable and incurable, unfortunately. All I can do is manage the symptoms as they arise. I'm petrified that I'll stumble or lose my balance or something when I'm waiting for a subway and fall into the tracks or some shit like that.

Girl you reply fast I was expecting to wait a few hours.

Thank you for educating me.

The mods had deleted my thread while they verified my proof and I just got a message they had verified it, so i'm here now :D

Are you considered to live a "normal" length of time? In other words, are you expected to live well past your 60s?

I don't think I'm expected to live past my late 60s if things are just left to their own devices, but who knows what kind of medical and technological advancements will be available then.

I'm sorry about this. "At least" the neurodegeneration is confined to motor neurons.

What kind of test did you do for the diagnosis? How is the progress of the disease monitored?

It's a genetic test based on DNA swabs and bloodwork - they took my dad's blood and my blood and did a comparison.

The progress is monitored through the visual and physical symptoms and regular brain scans to watch for cerebellum degeneration. I go for my first scan this weekend.

Do you know the type of scan? PET? MRI? what kind?

MRI

This is more of a hypothetical question, anyway, had your parents previously known about the almost inevitability of the disease would you blame them for having you?

Also now that you have some for sight on the cards you've been delt how has it affected your personality? are you more bitter do you not feel as bad about others?

I cant imgine what emotional pain and anxiety you must be going though im sorry for you and your family and I hope you find a way to make peace with it all.

WRT my parents - No I don't blame them at all. Actually, telling them was incredibly difficult because I knew how much they would blame themselves.

I'm not bitter really - I do sometimes feeling like I'm drowning in sadness though. That really has more to do with my own 'impending doom' than it does others'... non-impending doom?

Have you had genetic testing done yet? I'm sorry that you were diagnosed with this.

I ask because my father is 58 and was diagnosed with this last year. Apparently, SCA is genetic, but thankfully my sister and I have a small chance to get it (supposedly). It is very noticeable that my father has it, and he is also struggling with diabetes (he was diagnosed type 2 about ten years ago, but they recently rediagnosed him as type 1).

My advice to you is to learn how to laugh at it and keep your mind as sharp as you can. Do you like puzzles and other activities? Do brain games and learn as much as you can.

Stay strong, keep your head up, and don't let yourself lose a smile!

Yes, that's how I found out about the diagnosis.

About the puzzles, I like finding the matching things in Candy Crush Soda, does that count? :)

I'm glad you and your sister may have dodged this bullet!

Honestly, I think it might. If you keep your mind moving, rather than just doing something like watching TV, I believe that it might counter-act. But no one can say for sure.

Good luck to you along this journey! I hope for nothing but the best for all with SCA!

I think that your advice is generally good - to keep the mind active and challenged - but I don't think it will have any affect on the SCA. Sort of like taking vitamins :)

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This is from two weeks ago.

Actually, that was probably the last picture of me where i DIDN'T know. Woah.

He probably had other things in mind going by the username :P

Still, all the best OP :)

I hope science as well as gods do wonders and help you through your situation.

You have any insights into the current research which might be going on in this disease?

Also, are you from India? Hindu, plus you look so too! Hence the doubt.

Yes I am :)

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Thank you :)

Do you believe in God? Why/why not?

I do, but I'm not really religious (raised Hindu, not practicing, but when I feel the need to show 'faith' (like once or twice a year), i pray according to Hindu traditions). I don't know why. Feels right. I don't believe in a god that gives a shit about anything that happens on earth though - I do believe in something much larger than is fathomable. Maybe it's god. Maybe it's cthulhu. Who knows.

Has the diagnosis had any impact on your believe in God(s)?

Not really. I was raised Hindu, but I don't really practice. I believe in an indifferent god - that's something I believed in before, and something I believe in now as well.

Have you heard of our Lord and Savior Flying Spaghetti Monster?

I have. I'm sure I'll turn to him (her? it?) in moments of sorrow.

Do you not consider what medical advances that can occur within the next decade?

Of course I do. And I am hopeful. But I'm a normal human person, and I think feeling the way I'm feeling is apropos. Plus, as much a there will be medical and tech advancements, who's to say that they will be available to me? They may be hideously unaffordable. I mean, I hope not, but that's a distinct possibility.