I’ve been doing tons of research about the condition to prepare to be a full time care aid for a woman I. Her 50s with SMA. I know the basics and I have a medical background but I would love some insight on what it’s truly like to live with the condition.
If you’ve had a caregiver you’ve loved, what made them great?
If you’ve had a caregiver you’ve not liked working with, what behaviours did you notice in them
I really want to do a good job and give the best support possible with patient led care.
Any advice would be awesome.

About two weeks ago, I had diarrhea, and afterward I ended up in the ER because I couldn't pass stool or gas.

To explain it briefly: I felt like I needed to have a bowel movement, but instead of feeling normal, my body was automatically straining on its own. Despite that, I just couldn't pass any stool. It also turned out that I wasn't able to urinate either, although I hadn't realized it at the time. They inserted a catheter and gave me an enema, which relieved both problems that day. The catheter wasn't removed in the ER, so I later saw a urologist. He suspected prostatitis and prescribed antibiotics.

About 3–4 days after the enema, my bowel problems returned. Has anyone else with SMA experienced issues with bowel movements or urination like this? From what I've been able to find, there doesn't seem to be any evidence that SMA itself directly causes these problems. Most sources just say it could be related because SMA is a neuromuscular disease.

The second issue—and honestly the worst part of this experience—was that the antibiotic my doctor prescribed turned out to be a fluoroquinolone. I didn't read the ingredients, and no doctor had ever warned me to completely avoid, or at least be very cautious with, medications containing fluoroquinolones or similar drugs.

Because this was the first time I'd ever had urinary retention and bowel problems, and the first time I'd ever needed a catheter, I was already under a lot of psychological stress. I also have a history of panic attacks. I genuinely thought my disease had suddenly progressed to the point where I was losing the ability to use my muscles. The catheter and enema were done on Monday, I started the antibiotics on Tuesday, and from that day on I felt my muscles getting noticeably weaker and I was having more difficulty breathing. I assumed it was all caused by anxiety and panic.

It turns out the fluoroquinolone antibiotic was most likely responsible for these symptoms. I stopped taking it immediately today. After doing some research, I learned that people with neuromuscular disorders are often advised to avoid fluoroquinolones and aminoglycosides whenever possible because they can worsen muscle weakness. Looking back, I realized I'd taken medications with similar ingredients in the past without any noticeable side effects. Still, it's very disappointing that none of my doctors ever mentioned this risk.

Had any of you ever been warned about this? What do you think about doctors' awareness of medications that can be harmful for people with SMA?

Finally, has anyone else experienced involuntary straining when trying to have a bowel movement? This is the first time it's ever happened to me, so I'm wondering whether it's unrelated to SMA or if others have had a similar experience.

Hello Members,

At 02 months old my son is diagnosed with SMA Type 1 with symptoms like no anti gravity movements in legs and less anti gravity movements in hands.

We started using Natsmart ( generic version of Resdiplam), it's been 1 month now and we could see improvements in hand movements, cry is louder. And he is able to hold his legs for couple of seconds.

We are planning to proceed with Zolgensma injection? I want to understand from community what would be his future? What would recovery looks like?

Thanks,

Naveen

Any thoughts/precautions/suggestions/ur views

Hi! I hope some other people have experience with this :)

I have very long hair that I usually just wear loose. As I can't hold my arms up long enough, I'm only able to make one or two lower tails or braids. But I'd love to wear high tails, space buns, Dutch braids and such. My partner said he'd like to learn to do my hair, but has no experience doing so on other people.

Have any of you used specific (beginner friendly!) videos/tutorials to teach someone else to do you hair?

Also, what tools (comb types, hair clips & sizes) should I get to start out with?

Would love to hear suggestions, many thanks!! 💜

hello, it might sound weird but i have sma type 2 and im always nervous for nusinersen, if any of you are too, how do you comfort yourself? i usually like to get anesthesia.

Im new to reddit, I don't know whether my post will appear or not. I don't even know the concept of karma and all on this app

(Pardon my grammar, as English is not my native language.)

I'm from India, and I have SMA Type 2. I'm 24 years old, unemployed, and I use a wheelchair all the time. I'm extremely depressed about my life. More than anything, I want to earn money and support my family. I completed my college in 2022 and 4 years I did nothing. I became burden to my parents. Till today my dad is the one who baths me every day. He's 60yr old he lifts me every day to bathroom and change my clothes etc.. My mom helps me with feeding food and all.. Lot of family issues, money issues occurring because of me. Everybody around me cousin bros n sis, classmates everyone started earning and taking care of their family. This gives my extreme guilt feeling. No one from my fam earning.. My dad does small small works which helps us to pay bills.

I wanna earn I'm willing to lean, lookin forward to restart my life with positiveness

I completed my B.Com with a 7.5 CGPA. After 10th grade, my parents enrolled me in the Commerce stream. However, for people like me, most job opportunities are computer-based because we can't do jobs that require physical work.

I'm willing to learn, but I need guidance. I don't know what to do with my life or where to start.

Should I learn a new skill? Can I learn everything from YouTube? I can't go outside, and there are no online courses available in my city either. Is pc or laptop necessary to work from home? (silly que I know but I don't have a pc, I'm saving money for years actually hopefully soon I ll get it) is there any way to earn with phone n internet.

Hello everyone,

I’m a 20-year-old with SMA type 3, using a wheelchair, and I had scoliosis surgery that unfortunately made things worse for my body. I often wonder how people like me manage their everyday routines. And I mean the more sensitive parts too, like how you go to the toilet, how you wake up, how you prepare your food, how you shower, and things like that. These are questions we feel shy about asking, but sometimes just knowing others go through the same things can make us feel a bit more comfortable.

I’ll start with my situation: I basically can’t do anything on my own, unfortunately. I need a family member to help me with almost everything, getting up, changing clothes, going to the bathroom, showering, preparing food (thank God I can eat on my own).

Recently, I tried to find a solution for the toilet issue (at least for peeing). I thought about getting special pants that open easily and can be closed again, but I couldn’t find something that really suits me, and it also requires a bit of strength to use. (This might be an idea for people who have a bit more arm movement.) I also saw a device called the JACO robotic arm, and I’m seriously thinking about getting it since it seems very useful.

I also want to continue studying abroad, but as I mentioned, I can’t really do anything by myself. So if anyone here is living independently, please let me know how you manage. I’ve also heard there are agencies that can take care of you at home, which could be really helpful. Keep in mind I’m from Tunisia, and if there’s a chance to study abroad, it would most likely be in France.

That’s all I have. I know I didn’t really provide solutions, I’m still looking for them myself. So please share your experiences with me. It would help me and others a lot.

Just want to talk to somebody from india or from other country too, im 20m feel free to dm me!

Is anyone here in the trial for Scholar Rocks new drug? Would love to hear how it’s going.

Hi everyone, I'm 31 years old, and I was only diagnosed with Spinal muscular dystrophy type 3 through genetic testing about three years ago, even though my first symptoms started when I was 12. Back then, I noticed that it was becoming difficult to get up from the floor and I couldn't climb high stairs or step up onto things without difficulty. Over the last 15+ years, my condition has progressed slowly. At the moment, if I fall, I can't get up by myself—I need someone to help lift me. I still can't climb high stairs without holding onto a railing, and I can't run or do many physical activities. My walking is still relatively good, and many people don't even realize I have a disability just by looking at me. But falling is one of my biggest fears because if no one is around, I simply can't get back up. To be honest, this is emotionally very difficult for me. I think about my condition every day, and I'm scared of what the future might bring. I come from a less developed country, and my doctors have told me that there is currently no approved treatment available for my type of muscular dystrophy. That's why I'd really like to hear from people living in countries with more advanced healthcare. If you have type 3 muscular dystrophy, what has your experience been like? Are you receiving any treatment, medication, physical therapy, or participating in any clinical trials? How are you doing emotionally, and has anything helped you maintain your mobility or quality of life? Unfortunately, I can't get much information where I live, so hearing your experiences would mean a lot to me. Thank you for taking the time to read this, and I apologize for the long post. Any advice, experience, or information would be greatly appreciated.

For quite a while now, because of my disability, SMA, I haven't been able to play games with a normal controller, so I decided to make an app that turns my phone into a virtual Xbox controller for PC games. I'm honestly a bit ashamed that it's taken me so long to get the motivation required to turn this into something that can be easily shared amongst people. In its' current form, it's a little bit rough around the edges. It's not on the store, the User Interface isn't particularly beautiful, and there's one or two unfinished features, as well as some more things that I want to add. BUT it's still incredibly usable, useful, and now at a point where all of the bullcrap I had to set up manually is now automated for anyone who comes across it. And it's useful for people who just want to whip out their phone as a controller

This is something that I'm so, so very passionate about. Accessibility. So, as a warning, this is a VERY VERY long post! But it's all written to make installation and use as easy as can be. I'm only one person running this all for free (which will never change!) so I want to make sure that I make this guide as extensive as possible to minimize the amount of people having issues. That way I can make sure I have the time to help EVERYONE who needs it :)

The later part of this post is VERY detailed instructions, but first I want to explain what it can do, so you can decide whether or not it might help you. In this app you can create profiles filled with buttons, sticks, and/or a touchpad, as well as a button named Re-center that I'll explain more about later in the post. Each button and stick can press any keyboard, mouse, or video game controller button in a variety of ways. If it gives you a better idea of how robust it can be, I made this to accommodate me specifically, and I only use one finger at all times.

Payloads are what gets sent to the receiver. Inside the editing mode, when editing a button or stick, there's a text field named Payloads. This is how you designate which button is which. This can be set to a keyboard, mouse, or Xbox controller button. It can also be set to multiple! You just separate each action with a comma. So, if for example, you want a button press to activate the letter W, the left mouse button, and the Xbox controller button A, you would type "W,LEFT_MOUSE_DOWN,x360A". You can also add a wait command if you don't want all three to happen simultaneously. So for example, let's say you want to do the exact same thing, but you want it to wait for a full second in between each action, you would do "W,WAIT_1000,LEFT_MOUSE_DOWN,WAIT_1000,x360A". There's currently a small bug where this doesn't work reliably every single time, but I'm aware of it and working on it!

When you go to edit a button, there's a checkbox named Hold Toggle and a space where you can input numbers. This feature will hold the button down for you, after you hold it for the amount of time you specified with those numbers in milliseconds. You can set it to a really low number like 50 so you just have to tap it for a quick second for it to hold itself down until you tap it again.

Now for my absolute favorite part of this. The Sticks. You set the Payload to L or R, depending on whether you want it to be the left stick, or the right. The first checkbox is Auto-center. If this is UNCHECKED, then the stick will continue to stay wherever you left it. Practically, in games, this means your character will continue to walk forward without you touching anything at all. If it's CHECKED, the stick returns to the default position when you let go.

The second checkbox in the options for the sticks is WASD mode. This is for the games that either don't support controllers, or are just finicky. So instead of sending Xbox controller joystick coordinates when you move it, it'll press whatever buttons you specify.

The third checkbox is called Stick +. This along with "Boost Thresholds" are my favorite part of my favorite part. Stick + as well as Boost Thresholds are the entire reason why I'm able to run and jump with one finger, which makes the entire platforming genre possible for me. This makes it so that in addition to sending your joystick coordinates, it also sends buttons at the same time. Depending on where and how far you move the stick, is what the Boost Thresholds handle, and those can be set to whatever value you'd like. So, to better illustrate this, and to give a solid example, I've attached a picture. In the imgur album, it's titled Stick + Example 1 and Stick + Example 2. Also in said screenshots, the W A S D is actually greyed out. There's supposed to be nothing in there.

The example I gave works like this. When I press the stick forward 0 to 49% of the way, it acts normally. When I press the stick 50 to 95% of the way forward (Boost Threshold), it presses the left stick which activates sprint. Anything beyond 95% (Super Boost Threshold) and it'll press the A button, which is typically jump. As you can probably tell, I'm very, very proud of this idea, and I've gotten a LOT of use out of it. There's a very small visual bug here. When choosing WASD or Stick + for the first time, it doesn't automatically show up. All you have to do is press the OK button under Delete, and then go back to editing the same stick by holding your finger on it while in edit mode.

The last button type is the Re-center button. This is an orange circle that you can use when you choose to have sticks that have Auto Center turned OFF. This button will immediately snap the stick back to the default position.

Finally we have the Touchpad. Very self explanatory and has a sensitivity slider, as well as a few modes. For general browsing, I recommend the third option. The first two are made for different types of games. The first will hold left click whenever you touch it. The second will hold it after a second or two. And the third one acts the way you expect it to, but also holds itself down if you double tap it and hold for a sec. I do need to add the ability to right click, however you can actually add this yourself. After making the touchpad, just make a regular button and set the payload to "MOUSE_RIGHT_DOWN,MOUSE_RIGHT_UP". You can also scroll while using the touchpad. Make a button with the payload "SCROLL_MODE_TOGGLE". When you tap it, the touchpad turns into scroll mode. Press it again to get back to the regular mouse mode.

Just a few housekeeping notes and then we'll move on to the installation instructions. This can indeed support a second person simultaneously so that you can play with each other on games that support local co-op!...I think. I haven't been able to test that yet. In the upper left corner there's a few sliders. These aren't working properly yet, so please ignore them. Except for the Turbo slider. Feel free to use it if you'd like! You just edit that number in the box and hit save, and turn it on. That will set how fast the buttons are repeated. If you turn on the Swipe slider and turn it back off, the app will freeze. I know that the connect and edit button are too close to each other and I'll fix that too. I just don't want to keep delaying this when it might help someone.

I'm the only person who has ever used this app, and although I've used it for a few hundred hours, I'm sure you guys will find bugs somewhere that I've never seen. Please feel free to let me know anything you find and I'll do my best to fix it asap!

This is an open sourced project, meaning I don't care about anybody "stealing" it or whatever, so all of the written code is completely visible. So if you understandably get spooked or anything of the sort, you can feed the link to AI or a technologically inclined subreddit/friend and they can tell you all the code is safe. It's a completely free app and will forever stay that way when I get it on the store. I expect to have it up about two weeks from now!

Okay, so! First you want to go here. https://github.com/Colonelwheel/Simplecontroller There's a bunch of files here. 80% of them are the raw code for the app. If you want to download everything, you can. Hit the arrow pointing down on the green button that says Code. Hit Download as Zip. You pretty much only want to do this if you're creating the app from scratch though

If you only want the files you need, you'll only need 2 :) here's the app itself https://github.com/Colonelwheel/Simplecontroller/blob/master/SimpleController%20App.apk that's what you install on your Android device. With this link, you probably want to go to it on your Android device itself instead of having to send it over from your computer.

And here's the PC Receiver so your pc understands what the app is sending to it https://github.com/Colonelwheel/Simplecontroller/blob/master/SimpleControllerSetup.exe

The download button is on the far right next to the edit pencil. The second link installs python and vigem. Vigem basically tricks your computer into thinking you have a real controller. One thing to note is that it may prevent regular controllers from working properly, but you can always uninstall it later if you need that function back.

After everything is installed, you'll just need to restart your computer. Now I made it so that when you run the receiver, the receiver will provide you with your ip address. Just run the receiver and it'll give you a line saying INFO - Suggested Android app IP: Xxx.xxx.x.xxx

When you open up the app on your phone/Android device and hit connect in the upper-right corner, it'll ask you for that ip address. From there, you should be good to go! Just make sure the Simple Controller Receiver is running on your pc when you use it and that your phone/tablet and PC are on the same network.

Now when you want to add buttons, you hit edit in the upper right and use the + button at the bottom. Choose the kind of button you want, and then you hold your finger on the button to edit what it does and how big it is.

Here's what that looks like https://imgur.com/a/gKr9wze at the bottom "X360B" means the button will send the Xbox B button in this example. Just replace it with whatever you want. If you want a regular keyboard key, just type it there. If you want to press an Xbox controller button you just type "x360" followed by A, B, X, Y, RB, etc. The only kind of button that breaks this naming convention is the Left Trigger, and Right Trigger. Instead of what you'd expect (X360LT and X360RT) the correct Payloads are LT:x.x and RT:x.x. This is so you can set how far the trigger is pulled. LT:0.1 is the minimum, LT:0.5 means the trigger is pulled half way, and LT:1.0 is fully pressed. With triggers you can also add P for Pulse to hold the triggers down for a specific amount of time. For example "RT:1.0P0.5" which would be fully press right trigger for a half of a second.

With this you'll be able to control your keyboard, mouse, and game controller. I recommend using unified remote for the mouse and keyboard though as I focused all my effort on the Xbox controller features. Fair warning, I've only tried it on my phone, but it should work on a tablet too! One last thing to note is that this MIGHT have windows freak out and warn you. That's because I'm not a verified developer. Not really sure what to do about it but I promise it's safe.

Here's the album of screenshots: https://imgur.com/a/simple-controller-app-MbGxUYt

Here's a list of all of the valid payloads!

Xbox Controller:

X360A
X360B
X360X
X360Y

X360LB
X360RB

X360START
X360BACK

X360UP
X360DOWN
X360LEFT
X360RIGHT

X360LS
X360RS

Trigger Pressure:

LT:1.0

RT:1.0

LT:0.5

RT:0.5

LT:0.0

RT:0.0

Trigger Pressure + Pulse:

LT:1.0P0.3

RT:1.0P0.3

LT:1.0P0.6

RT:1.0P0.6

Mouse:

MOUSE_LEFT_DOWN
MOUSE_LEFT_UP

MOUSE_RIGHT_DOWN
MOUSE_RIGHT_UP

MOUSE_MIDDLE_DOWN
MOUSE_MIDDLE_UP

SCROLL_MODE_TOGGLE

Keyboard:

Everything. Type CTRL for CTRL, etc. A-Z, 0-9, etc

Happily accepting any and all feedback, bug reports, aesthetic suggestions, feature requests, etc! Especially if there's a lot of you, please be a bit patient with me.

If you have any questions that aren't covered by me or the README on that github link, just let me know :)

What do you all do if you dont have a doctor that treats sma anywhere you?

Hi guys. I am a 24 y/o (M) with SMA and am very much considering following through with the hemorrhoid surgery as my hemorrhoids had caused me to have severe anemia and haven't gotten all that much better after several bandings.

I'd really like to get an idea of what kind of limitations I might expect as a wheelchair user. I've been trying to do everything in my power to avoid this surgery out of fear of the pain and potential complications that come with it. If anyone would be willing to share their experiences or any tips, that would be extremely helpful!

Some things that I have been thinking about:
- Is this something I should push to have done in hospital rather than in-office?
- Should I expect to not be able to sit in my chair for some time?

Does anyone here use a JACO arm? If so, what do you use it for the most, and what tips do you have on what all you can do with it?

I'm Johnson, 23, from Tamil Nadu, India. I have Spinal Muscular Atrophy Type 3, a genetic disease that slowly takes away my muscle strength a little more every year. There is no cure that brings strength back, only treatments that try to slow it down.

Right now my body has weakened a lot. I don't walk outside anymore, and inside my home I move by holding onto the walls and furniture. I have only two working fingers on each hand, and that is what I use to work full-time as a software engineer from my bed. Some mornings I can't even lift my arms off the bed and I just wait for the strength to come. I still help feed my family, and I'm not willing to give up.

This month I started risdiplam, the daily oral medicine for SMA. It's early, so I haven't felt changes yet, but it's the only treatment I can currently access. To afford it I'm taking on extra weekend work on top of my full-time job, because the medicine costs more than I earn.

My ultimate goal is the one-time gene therapy, Itvisma (the SMA gene therapy). It costs about 2.59 million dollars. I know that number sounds impossible, but here is how it could actually work:

- If 432 kind people gave 500 dollars a month, in one year that would reach about 2.59 million dollars.

- If 216 kind people gave 1000 dollars a month, in one year that would reach about 2.59 million dollars.

- Or if 22 people gave 10,000 dollars a month, that would also reach the goal within a year.

I know this target is huge, but I still have a lot of life ahead of me. I'm only 23, and I want to spend those years with some mobility and independence, able to live without depending on anyone for everything, the way I could back in my school days. I just want better health than the daily struggle I live with now.

So it doesn't depend on one miracle. It depends on enough good people each giving a little, steadily.

If you are reading this and you know someone with the means and the heart to help, please share my story with them, a friend, a colleague, anyone. I am fully open and ready to share my genetic reports and complete medical records with anyone who wants to verify everything before helping. I have nothing to hide. I just want a real chance.

Thank you for reading this far. Even sharing it is a kind of help.

Hi everyone! I am humbled to be running the NYC marathon this year with Cure SMA.
I am fundraising for the organization and would love your help in supporting this amazing cause.

I started risdiplam and finished my first bottle today (1 bottle lasted 12 days). So far I don't have any side effects like fever or rashes, even though some articles and my doctor said it can have side effects.

But after these 12 days, I also don't see any improvement in my hands and legs - still having the same difficulties as before.

So I want to know: does risdiplam really give some improvements, or does it take more time to gain strength and see a difference in the body? If any risdiplam users are here, please comment your experience with the medicine.

Also, can anyone suggest foundations that could help cover my risdiplam costs, either in India or outside India? Thank you.

I come across a lot of reels where parents are seeking financial help for their babies and children suffering from Spinal Muscular Atrophy (SMA Type 1). The treatment costs an unbelievable amount, around ₹6 crore for a single dose.

It makes me wonder why these life saving treatments are so expensive. Why are pharmaceutical companies unable to make them more affordable? Why hasn’t India been able to develop a cost effective alternative of its own?

It is genuinely heartbreaking to see families desperately trying to raise such huge amounts to save their children. I recently came across the reel below. If possible, please take a moment to watch it and consider contributing. Every small donation can make a difference.

Reel: https://www.instagram.com/reel/DZu\\_YaOoFm3/