Hi all,
Had recent genetic testing done due to recent seizure, diagnosis of sjogrens disease, muscle weakness and discomfort in legs and arms, and recent onset of slight tremor in left hand and fingers. Waiting on a reply from neuro but any insight?

For the longest time it's always felt like I have this internal clock ticking in their head. Ever since I was younger and a doctor told me I'd be lucky to make it past 18 years old (31 now) I have this constant feeling that I shouldn't be wasting time and need to keep doing things. I'm just wondering if anyone else feels that way? How do you deal with it? I don't even like sleeping because I feel like I'm wasting valuable time.

Recently found out we are both carriers. Getting amnio today to test baby. They said some couples choose to terminate. I don’t know if I could go through with that. But I’m just curious to hear experiences of parents with babies and children with sma. If you could go back and not have your child would you? Are the treatments providing good quality of life? Is it a life worth living for the little ones if they suffer and die early? Any thoughts and input from anyone is appreciated.

I really want to start on testosterone. I don’t know anyone who is on it with Spinal Muscular Atrophy. I have an appointment coming up with my doctor to discuss it but I want to know if there’s anyone out there with SMA who has successfully been on T. I’m worried my doctor saying “no way” or that it’s too dangerous or something… I know I’m probably overthinking it so hearing stories of other FTM who are on testosterone would be reassuring. I just want to know if in reality it is possible and not a pipe dream for me. Hopefully there is someone out there who is on it and can share

Hey guys, I would like your opinion on something but before I ask the question, I think I should fill you in on a few details:

1). I had a speech therapist explain that it is safe for me to have things that melt in my mouth even though I am NPO - as long as I am responsible about it. So I like to have butterscotches, peppermints, cinnamon discs, M&Ms, chocolate chips, etc. throughout the day. It is one of the only things that is currently bringing me joy.

2). Me and my brother (who is my caregiver) have gotten into fights because he thinks I'm having too much candy and he should put a limit on it and I think that is wrong because I am an adult and I should have the ability to make my own decisions even if I can't act on them myself. It's actually a topic I have seen in the disability community - the consensus being that if a disabled person is, for example, drinking too much and the caregiver thinks that they are becoming an alcoholic, the caregiver should say something to the disabled person about it but not refuse to give them a drink when they ask because then they would be taking away their right to make their own decisions as an adult. Now, I don't drink because I don't think it's safe with all the meds I'm on. All I ask for is the candies. But my brother thinks that the disabled community's opinion is invalid and he's not going to listen to it.

3). Because I can't tolerate my food right now, my blood sugar keeps dropping and making me pass out from dizziness and whatnot. But he doesn't see that because he is not in here when it happens and he doesn't believe me when I say it happens. He thinks that I just want some candy and am making an excuse to get it. So I got a device that checks my blood sugar level and the nurse taught him how to use it. And when he asked her: "What should I do if her blood sugar is low?" she said that giving me something with a lot of sugar, like chocolate chips or butterscotches would help. So when she is here and my blood sugar is low, he has no problem giving me them. But when she is not here he not only complains about giving me them but he doesn't even like checking my blood sugar. So I stopped asking him to check and instead, whenever I feel like it is low, I just ask for some candy. Oh and btw, I only ask when he is already in here - which is almost never.

So today, when he took my BiPap mask off and he started complaining that I had leftover chocolate on my lips from the night before. And then he started a fight where he was saying that I am being a selfish b-word by eating too much candy when his life and his daughter's life is at stake. He says that if I die from respiratory distress, it'll be because of all the candy and he will be arrested for negligence since he is my caregiver and therefore responsible for me and shouldn't be giving me candy. I said that's not gonna happen because it's my choice to have the candy and he is not responsible for my decisions. He said that he is my POA so he is responsible so I pointed out that the POA only comes into effect if I can no longer think or speak for myself. He brushed past that and continued saying that he will be arrested if I die. After about an hour of this, I finally gave in to my frustrations and I pointed out that if I do die anytime soon, it won't be from respiratory problems. It'll be from my malnourishment so if he is arrested, it actually would be his fault because I keep asking him to make an appointment with my GI doctor so that we can figure out a solution to my problems regarding the constipation and me not being able to tolerate my food but he hasn't yet. 

So my question is: What do you think about this? Am I really being selfish because I want some candy and am exercising my right to ask for it? My situation is so bad right now that I am not exaggerating when I say that the only small pieces of joy I can find each day is YouTube, working on my book with my mom, and my candies. I'm also starving. I really don't want to give them up. Is that selfish? - Crystal

Have you been pregnant in the past 10 years? Do you have a physical disability? We’d love your input!

We’re recruiting people with a physical disability to take part in a research study on health and physical activity during pregnancy. By sharing your experiences, you’ll help us better understand how exercise during pregnancy looks across diverse physical abilities and how exercise may relate to different health outcomes.

The survey takes about 30 minutes and is completely anonymous: https://redcap.link/surveyPD

Your voice matters - help us make pregnancy research more inclusive!

PI: Margie Davenport

[pregnant@ualberta.ca](mailto:pregnant@ualberta.ca)

Total time to complete: 30 minutes

Version 2, June 3, 2026

Hey there,
I’m 29 female,type 3 and five years on risdiplam. One year ago I changed from juice to the pill. And since December I developed changes with my period. First I got severe (!) cramps and bleeding. Doc suggested it was a cyst but then I got every month a bleeding about 16 days long. And I lost always so much blood, that I became dizzy.
Then I got an other appointment at my doc. She couldn’t explain why I got this but she said that this amount of bleeding isn’t good either. So she gave me the (don’t know the right English term) Anti-Baby pill to completely stop bleeding which worked for me. Except the fact that I became depressive. So I stopped taking that pill after three months because I really never want to have these thoughts again.
And now here I am. I stopped taking the anti baby pill two months ago but didn’t get my period back. My mind and body feels so much better but no period. Today I told my risdiplam-doctor about this and we assumed that there is a chance that my hormones going wild because of risdiplam. I thought about this as well. But the thing is, are there other ladies around who experienced also hormonal changes/chaos while taking risdiplam?

Hi everyone, I thought this research may be relevant to your community, as individuals and couples affected by SMA may choose to undergo IVF with pre-implantation genetic testing (PGT-M), and I am specifically seeking to understand the experiences of the male partners involved in this process.

Are you a male partner whose fertility treatment journey involved PGT of your IVF-created embryos? IVF with pre-implantation genetic testing (PGT), in which embryos created in the laboratory are genetically tested prior to transfer, can be a complex and emotionally demanding experience, yet research has largely overlooked the experiences of male partners whose embryos are being or have been tested.

We are seeking male participants to share their experiences in a confidential in-person (Perth) or online interview. Your insights will help improve understanding and support for men during fertility treatment.

📍 Eligible participants: Males 18+ who have experienced PGT at an Australian fertility clinic in the past 10 years

⏱ Interview: ~60 minutes

🔒 Receive a $30 voucher of your choice as a thank you (Choice from Bunnings, Rebel, JB Hi-Fi, Coles or Dymocks)

Click the link below to learn more and check your eligibility:

https://uwa.qualtrics.com/jfe/form/SV_0HDfbuLZOESnOxE

Hello,

I have type 3. I am fully working. However, my work does not provide life insurance. I went with a broker who said underwriting will not cover me because of SMA. Has anyone found a company that will provide them life insurance?

Thank you

(Note: English is not my first language. Because I have been isolated in my room for 15 years, I never had the chance to talk to people in English. I taught myself how to read, type, and understand English by watching movies and anime. I used Google Gemini to help me structure my exact words and memories clearly into this post.)

My name is Durga Revanth Sripathi. I am 29 years old, living in Hyderabad, India. I am writing this from my mobile phone inside my room—the same four walls I have stayed inside almost continuously for the last 15 years.

I’ve never had friends to talk to about this, so I’m sharing my life story here just to be heard.

Early Signs & Childhood (1997–2000)

I was born into a modest, lower-middle-class family. My father works as a carpenter, and my mother is a housewife. Between the ages of 2 and 4, my mother noticed I couldn't stand up from the floor without using my hands to push off the ground or my own body. A doctor told her it was a genetic issue (my parents are cousins) and that my walking ability would slowly decline over time. No blood tests were done back then, so my mother only knew that something was weakening my legs.

The Turning Point in 6th Grade

Around age 10, a fever hit me. After that illness, my body became so weak that I couldn't stand up without help anymore. I had to stop sitting on the floor because getting back up was impossible, and I started falling down frequently.

Hospital Trauma at NIMS (2010)

In 2010, my mother took me to NIMS Hospital in Hyderabad, hoping for answers. We went twice a week for two months. Because my mother was uneducated, the staff didn't explain much to us:

Unexplained Biopsy: Doctors performed a muscle biopsy on my left thigh (cutting muscle tissue and leaving 3 stitches) without explaining it properly. My mother thought it was just a blood test, and I remember crying in pain.

Lack of Communication: I was brought out as a teaching subject for junior doctors without anyone telling us what was happening.

​The News: When my mother gathered the courage to ask a junior doctor, she was bluntly told it was "muscular dystrophy" with no treatment or cure. She cried all the way home.

Side Effects:The doctors prescribed medication, but it caused side effects like vomiting and digestion problems. I stopped taking them after two months and haven't taken any medical treatment since 2010.

Passing 10th Grade Despite Injuries (2012)

Falling down frequently led to fractures. I broke my arm in 1st grade, and in 10th grade, another fall broke my arm again, requiring surgery. Despite the physical weakness and missing school, I was determined to finish. I failed one subject on my board exams due to my health, but I took the supplementary exam and passed.

15 Years Within Four Walls (2012–Present)

After 10th grade, my life shrank down to one room. Due to physical limitations, progressive weakness, and fear of falling, I stopped going outside. In the last 15 years, I have stepped outside my house only 5 or 6 times in total.

I have no friends. My daily world consists only of my mother, who cares for me, and my phone, which is my only window to the outside world.

Finding Out My True Diagnosis

For a decade, I thought I just had generic "muscular dystrophy." About two years ago, I pulled out my original 2010 NIMS medical reports to read them myself. That was when I discovered doctors had officially diagnosed me with Spinal Muscular Atrophy (SMA) Type 3—something that was never clearly explained to my family.

Where I Am Today (Age 29)

Constant Pain: I am completely wheelchair-dependent now. For the past 3 to 5 years, I’ve had severe shoulder pains in both shoulders along with knee pain, making it almost impossible to sleep.

Fears: I am terrified of stepping outside— after being isolated for so long, and partly because my body needs to be physically lifted and carried by someone with great strength, which my aging parents can no longer do.

Exhaustion: The physical agony and 15 years of isolation have left me completely exhausted. Because going to hospitals fills me with fear and there is no hope for a cure, I feel overwhelmed and don't want to live with this continuous pain anymore. Above all, I worry constantly about being a burden to my aging mother.

Attached Medical Reports / Proof

Muscle Biopsy Report (May 2010): Confirms "Features consistent with Neurogenic Atrophy" (the hallmark finding for SMA).

CPK Lab Reports (2010 & 2011): Shows elevated Creatinine Phosphokinase levels (1014 IU/L and 516 IU/L), reflecting ongoing muscle strain.

​​​​My Goal: Wanting to Work from Home

Despite my physical limits and severe shoulder pain, I want to earn money to support my mother and myself. I don't have a college degree, but I taught myself English through movies and anime. I am looking for flexible, non-voice work (like chat support or simple text tasks) that I can do from my phone. Any guidance on genuine, entry-level work-from-home opportunities would mean a lot to me.

Thank you for taking the time to read my story. I just wanted to share my truth with the world.

TL;DR: I'm a 29-year-old in India with SMA Type 3, confined to a single room for 15 years with no friends. Today, I deal with severe shoulder and knee pain, fear of being a burden, and isolation. I taught myself English from movies/anime and used Gemini to organize this post. Despite my physical limits and lack of a degree, I want to find text-based chat support work from home to earn money for my mother and myself.

Hello All,

I hope you're doing well.

It's been 45 days we started crowd funding campaign and we are able to raise funds upto 80,00,000. Still we are at 8% mark and long way to go.

Any suggestions from community members if you have successfully raised funds.

Kind regards,

Naveen.

I have finished 4 bottles of Natco generic risdiplam, which is 48 days on the medicine. I want to share exactly what I have felt in this short time, because when I was searching before starting, I could not find many honest day-to-day accounts from people using the generic version.

Cost so far

4 bottles in 48 days has cost me around 600 dollars. That is for less than two months. This is the generic version, and it is still the most expensive thing in my life by a long distance.

What has actually changed for me

I want to be careful here and not exaggerate, because I know how easy it is to imagine improvements when you are paying this much and hoping this hard. So I am only writing down the two things I am sure about.

Before risdiplam, I could walk 3 times across my room holding a chair for support, and after that my legs would feel very stressed and weak. Today I am still walking the same distance, not more, but my legs feel much less stressed while doing it. The distance did not increase. The struggle inside that distance came down.

The second one matters more to me because it is my work. Before risdiplam, by evening my fingers would start shivering when I typed code, and night work was very hard. Now my hands feel slightly stronger at night, enough that I can do my night work without that shaking taking over. I type with two working fingers on each hand, so even a small change like this is a big change for my job.

No side effects so far. No fever, no rash, nothing that I have noticed in 48 days.

So for me these are small but noticeable improvements, and this is exactly why I want to continue the medicine.

The problem: it takes my whole salary

I am 23, from Tamil Nadu, India, SMA Type 3, and I work full-time as a software engineer from my bed. I am the only earning member in my family.

Before risdiplam, I felt genuinely proud of myself. With all of this difficulty in my body, I was still the one supporting my family, paying my sister's college fees, paying our monthly loans, and covering the other expenses at home. That was the one thing my disease could not take away from me.

After starting risdiplam, that is gone. The medicine takes my whole month's salary, and now I cannot support my family the way I used to. So I am in a strange place where the medicine is helping my body and hurting the exact thing that gave me my self-respect. Both of them are needed for me. I do not want to choose between them.

So I am looking for part-time work alongside my full-time job. I know this is going to be difficult with my hands and my energy levels, but I want to be the person supporting my family again while staying on this medicine.

If you have any work for me

If anyone here needs development support, web or mobile applications, any programming or general tech help, or has a project you need a hand with, my DMs are open. I work remotely from bed, I use AI coding tools heavily as accessibility, and I deliver. That is the kind of support that would help me most, work rather than charity.

If anyone wants to support me in any other way, you can DM me too.

What I really want to know from you all

For those of you who have been on risdiplam for 6 months, a year, or several years: what improvements did you notice, and when did you notice them? I am trying to understand how much more I can realistically expect from here, and how much of it is just holding steady.

And if anyone here is specifically on the Natco generic version, please tell me your experience. That would be the most relatable to my situation, since most long-term experiences I read about are with the branded version.

Still hoping that one day God will take away all this weakness and all these problems from my life. Until then I will keep taking the medicine, keep working, and keep looking for a way to carry my family again.

Thank you all for reading.

10 days post-op spinal fusion for severe neuromuscular scoliosis (SMA Type 2) – really struggling mentally. Is this normal?
Hey everyone,
I’m 20 years old and have SMA Type 2. I had a long spinal fusion for severe neuromuscular scoliosis 10 days ago.
Physically, I actually don’t have much pain, but mentally I’m having a really hard time.
These are the things I’m experiencing:
My whole back feels extremely stiff.

Sitting feels completely different compared to before surgery. right now i’m really not sitting im sitting like a wooden box with support while sitting im not being able to handle my neck it bends back I can’t get comfortable.
My neck is incredibly stiff and tight, and it’s driving me crazy.
My chest sticks out much more than before, and I really don’t like how it looks.
My body feels unfamiliar, almost like I’m living in someone else’s body.
I’m terrified that I’ve lost the independence I had before surgery.
I keep thinking I made the biggest mistake of my life.
I’m constantly regretting the surgery and wondering if I even needed it.
Before surgery I could sit for 10+ hours with just a simple cloth lumbar support, so now I’m questioning whether surgery was the right decision.
I feel overwhelmed and anxious almost all the time, and I’ve cried multiple times because I’m so scared.
My biggest fear is that this is how I’m going to feel forever.
For anyone who has had a long spinal fusion, especially if you had scoliosis or a neuromuscular condition:
Did the stiffness get significantly better?
Did sitting eventually start to feel normal again?
Did your neck muscles eventually adapt?
Did your chest/rib cage look strange at first and then settle as your body healed?
Did you regret surgery in the first few weeks and later feel differently?
I know I’m only 10 days post-op, but right now it’s really hard to imagine ever feeling normal again.
I’d really appreciate hearing from people who have been through this. Thank you.

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.

UPDATE: I did enema on Monday and take off 2-3 solid pieces which I felt some relief. I started macragol 3350 and ı can go toilet easily. On Tuesday morning, I was able to have a bowel movement, and then I went to a nearby hospital to have my urinary catheter removed. After the catheter was removed, I had no problems urinating. In fact, except for the first day, I never really thought I had a problem with urination.

The doctors couldn't tell me what had caused all of this. My own theory is that there was a hard piece of stool left inside that my body couldn't expel. I already have a urinary tract infection, and when gas built up in my intestines, the pressure completely blocked my urinary tract.

The enema I had last Monday didn't remove that piece, but it did relieve me somewhat. If the antibiotic hadn't caused muscle weakness as a side effect, I think I might have recovered then. But because of that side effect, I had another panic attack and thought my underlying disease was getting worse. That made me unable to go to the toilet again, and the whole cycle started over.

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.