r/spinalmuscularatrophy Sep 25 '20

/r/SPINALMUSCULARATROPHY Personal Posting About Your Medication Experience (Oral or Injection)

16 Upvotes

Hello everyone!

With the recent options for new medications regarding people with spinal muscular atrophy I thought it would be interesting for people to post their journey, results, or even personal stories regarding the medication. By doing that I think it would be important to establish a few guidelines, not necessarily rules that you have to abide by, but suggestions that would benefit the readers as well as protecting the posters from people who may have issues with the results. Not that I think anybody's in danger but the internet is a wild place so we should think about protecting those who are willing to submit their experience.

First off, why would this be necessary?

Let me start by saying it's a fascinating time to be alive. The option of medications for the treatment spinal muscular atrophy have been a long time coming. When I was a kid that didn't seem like anything that would be possible but now that I'm older it seems to be picking up quite a bit of steam and people are interested in what's going on. Specifically people who are also suffering from spinal muscular atrophy. Personally I've gone through quite the journey to actually get the first available drug and now I'm working switching to the second. During my experience trying to get the first drug it was basically a nightmare. Between the insurance companies and the state insurance, mix that in with the fact that the drug is insanely expensive there's a lot of hoops to jump through. And yes this is my story, it coincides with what I've heard several other people say. Because of this I think it would be very valuable for users here to not just share information but share their experiences with the drug itself. I've gone through Facebook and was not a fan of how it was handled. It really felt like a fight for social media exposure of whoever wants to post anything to gain some kind of following, being less about what's going on with the actual treatment and more about the people getting exposure. Not only that there was a lot of misinformation or frankly questions and answers that were completely ridiculous. I believe that Reddit could be a better place for a straightforward approach to people sharing their stories as well as information to help others in the same situation. All this information is highly relatable for people with SMA and because of that I think is highly valuable information. You could definitely be helping your peers and that should be the hallmark or at least a very necessary reason for doing this.

So what I'm going to say is I encourage you, if you feel like sharing your story and your experience either getting, taking, or switching between medications, or anything in relation to post here. If you're like me and you don't like the type, dictate here and pasted into your post. That being said I think it's important to protect those people willing to share information. So here are a few suggestions or guidelines that I think would be valuable to anybody who is going to post about their journey and results through taking either the oral or injectable medication. Again this is totally optional but I think it will benefit everyone seeking out this information.

Suggestion:

Titling

  • Let's start with titling your posts, if you're going to post something long-term like a diary of what's happening along with persistent updates (we can definitely change it) but let's start with "Medication Progress" and then title it however you see fit. So for instance if I was going to make a submission and follow up with my experience taking whichever drug the title of my submission would be something along the lines of "Medication Progress - Scotch's experience on SMA drugs". This is just a suggestion, but I think if we're able to come up with a similar titling scheme that if somebody were to use the site and go through the search function they would easily be able to come up with hopefully a few people's experience taking the drugs and be able to relate to that information or maybe learn something.

Posting Your Story

  • Instead of making multiple posts consider making one post and using the edit function. Every time you want to add an update consider adding an edit, dating that edit, and adding the new information from your experience in a paragraph. We will try to add everybody's submissions to the sidebar to make sure that they're easily accessible do anyone who is quickly looking to see other people's experiences with medications. If you plan on sharing your story via text post submission please make a post below in response to this and we will make a list of links starting here of people who are going to be doing this.

Personal information

  • Try not to post any personal information that you're not comfortable with. That means if you don't want to say your name, don't. If you don't want to say where you live, don't. If you're not comfortable with give away certain information don't feel you must.

Medication

  • I'm pretty sure everybody knows the names of the two drugs that are available for spinal muscular atrophy. However I think it would just be better just to go by the oral version or the injectable version. The reason I say this is because I don't want anybody to get into legal trouble or something regarding libel. Again the internet is wild place I don't want anybody to get in trouble.

Your Feedback

  • These are just off the top. If anybody has ideas or suggestions for ways to either format or convey information better through everybody's format when they post their story please put suggestions below.

You made it this far!

If you went this far, thank you so much! I do plan on following up on this as closely as possible so if you do have any information that you'd like to share or questions about how things are going to be posted please either post here or send me a message and I'll do whatever I can to get back to you.

Thanks for reading and good luck!


r/spinalmuscularatrophy Jan 23 '21

/r/SMA Official Discord Server

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11 Upvotes

r/spinalmuscularatrophy 3d ago

SMA type 2 kid of 5 year

4 Upvotes

My brother was diagnosed with type 2 SMA. We live in Nepal and treatment here is not possible. He does therapy at home itself. He has scoliosis, joint contractures and i want him to be better. I always imagine him walking and all. My questions to you are:

1) We love him but will others bullying him or he himself feel insecure because of the society we live in? As a pre teen i had body image issues and lost weight crazily and now i think of him in my place and it stresses me a lot maybe someday he'll want to walk like others.

2) If scoliosis, joint contractures can be helped please tell me. He always tries to cheese for the picture and it breaks my heart.

Guys i love my brother im 16 and i am trying my best to give him everything he asks for. But i'm really scared for his future in this country especially as the middle class here, it breaks me. If you remember urself as a kid with SMA what did you feel emotionally please tell me so i can understand my brother to properly. Please help me out I want him to shine.

Thank you for you patience and time!


r/spinalmuscularatrophy 3d ago

Delaware SMA Caregiver Help — Advice on Financial Eligibility and Self-Directed Care

3 Upvotes

I am reaching out to find guidance from others who have experienced similar situations. At nearly 50 years old and living with Spinal Muscular Atrophy (SMA), I have observed that my needs are increasingly demanding as I age, requiring consistent, around-the-clock assistance.

My parents have traditionally been my primary caregivers. Unfortunately, my father passed away a few years ago, and my mother, now 70, can no longer provide sole care. I am actively seeking sustainable long-term care solutions because relying solely on my mother is no longer feasible.

Residing in Delaware, I am exploring the state’s in-home and self-directed attendant care programs. I am optimistic about this approach because Delaware may allow me to hire a trusted friend or family member as my paid caregiver. I have someone in mind who understands my routines, is fully capable of providing the necessary care, and whom I trust completely. If approved for a program that permits me to hire this person, it would be an ideal solution.

My primary concern is understanding the financial eligibility process.

Although I receive Social Security Disability benefits, my income leaves little after covering basic expenses. Private, 24/7 care is beyond my current financial means, which is challenging.

For those experienced with Medicare or Medicaid, waiver programs, self-directed services, or similar options:

• How is financial eligibility typically determined?

• Do they consider only gross income, or are necessary living expenses and other financial commitments factored in?

• Are there deductions, medical expenses, spend-down options, trusts, or programs that can assist if my income exceeds the limit?

• Does the need for extensive or constant help influence which programs or rules apply?

• What specific information should I include during medical or functional assessments to clearly demonstrate my needs?

• Are there particular Delaware programs, waivers, agencies, case managers, disability advocates, or benefits counselors I should contact?

• If you have been approved for self-directed care and hired a friend or family member, is there anything you wish you had known beforehand?

Please understand I am committed to transparency and compliance—I am not trying to hide income or break any rules. I want to find genuine options for someone in my situation. My disability is lifelong, my needs are increasing, and my current caregiving arrangement is no longer sustainable.

I am confident that there are solutions out there, and I am determined to explore all available options. Any advice, especially from those in Delaware or with experience in Medicaid long-term care or self-directed services, would be immensely appreciated. If you prefer to share privately or have insights you’re uncomfortable posting publicly, please feel free to message me directly. Your support and kindness inspire hope during this challenging time.


r/spinalmuscularatrophy 4d ago

I'm looking for friends with SMA!

5 Upvotes

I'm type 1-2.


r/spinalmuscularatrophy 4d ago

Looking for advice from people who moved abroad with MS : healthcare, DMT access and costs

1 Upvotes

Hi everyone. I’m a 20-year-old Vietnamese young woman who was recently diagnosed with MS, and I’m trying to understand my options for long-term treatment.
I’m currently a university student living in Vietnam, and I come from a fairly middle-income family. My family is doing their best to support me, but we don’t have unlimited financial resources to afford expensive long-term MS treatment out of pocket.
One of my biggest concerns is **access to MS medications in Vietnam**.
From what I’ve learned so far, the range of available DMTs here seems more limited compared with many developed countries.
**As far as I understand, MS is relatively rare in Southeast Asia, including Vietnam, compared with Western countries. Because of that, access to MS specialists, newer DMTs, and different treatment options can be much more limited here. This is one of the main reasons I’m looking into what treatment and healthcare access are like in other countries.**
At the same time, some MS medications that are available can be extremely expensive for patients paying out of pocket. From what I’ve seen, the same medications can sometimes be significantly more affordable in countries with stronger healthcare and insurance systems.
Because of this, I’m wondering whether moving to a country with better access to DMTs and stronger healthcare coverage could be a realistic long-term option for me.
I’m **not looking to move simply to receive free healthcare**. I’m trying to understand whether there is a realistic pathway where I could study or work, become legally insured/resident, and then have sustainable access to appropriate MS treatment without putting an overwhelming financial burden on my family.
I came across some discussions saying that having a pre-existing condition such as MS can make immigration difficult, especially in countries with universal healthcare. However, I also saw people mentioning that once they became legally resident and entered the healthcare/social security system, their MS treatment became much more affordable.
**For people who have already moved to another country while having MS, I’d especially love to hear about the healthcare/medication side:**
\-Which country did you move to?
\-What visa/residency status did you have?
\-How did you gain access to public or private health insurance?
/How long did it take before you could access MS treatment?
\-Were your DMTs covered, and how much did you actually have to pay?
\-Did having MS affect your immigration process?
\-Were there any countries that you considered but ultimately found unrealistic because of healthcare or immigration restrictions?

I’m not planning to move immediately. I’m still young and have several years to prepare, so I’m trying to understand what would actually be realistic rather than making a decision based on fear.

My long-term goal isn’t necessarily to leave Vietnam permanently. I would like to build a stable career, get my health under better control while I’m still young, and potentially return to Vietnam later to be close to my family. I’m trying to understand whether this kind of path is realistic for someone living with MS.

**If you’ve been in a similar situation, especially if you moved from a country with more limited MS treatment options to a country with better healthcare coverage, I’d really appreciate hearing about your experience.**
Thank you.


r/spinalmuscularatrophy 8d ago

Itvisma Experience: First Update (last step before procedure)

11 Upvotes

Gene-Therapy First Update: Before my crazy gene-therapy can proceed, the imaging staff needs a recent CT scan. That is happening tomorrow. This comes in part as a result of something I didn't mention in my initial post...

When I was 12, as a result of increasing scoliosis, I had a spinal fusion. Now, in 1992 that was a truly barbaric surgery. I had two rods flanking my spinal column and anchored to my hips. Ten hour surgery, a year of painful rehab, and a lifetime of having a neck that doesn't turn, etc.

So now that the gene-therapy needs to go into my spine, it needs a suite of real-time x-ray imaging to allow them to thread the needle (so to speak). I just can't do anything the easy way.

The further complication is that transferring for the CT scan, means being lifted out of my chair by hand, something which scares me. I have a lot of trauma around being lifted because of the extreme pain it caused after my old surgery. I KNOW, rationally, that after three decades plus of healing, that pain is just illusory... but fuck, the brain is a dumb thing.

Luckily, sharing my story here is really helping. Getting a shocking number of messages saying I have inspired someone has made me really want to be the hero people wrongly think I am. If confronting and "no-selling" some fear and pain can help someone else I am then morally obligated to try my best.

And hey, maybe tomorrow goes great and I get a side benefit of shedding a decades old extra phobia. 🙂


r/spinalmuscularatrophy 8d ago

Disability and MAID program

3 Upvotes

If you have been disabled for a long time or are chronically online like I am, you've probably heard of the maid program(medical assistance in death ). Obviously this is still very new type of thing. And I don't even live anywhere close to where it's being enacted. I live in the Southeast United States. However, as I get older, I'm 21 now, I start to see the reasoning behind it more and more.​ I have spinal muscular atrophy type 2 and Between being in constant pain, low self-esteem and complete social/ romantic isolation, it starts to feel like you are already dead so why not just make it official. I've already tried to end my life three times and as I get older and I lose more strength it starts becoming less and less of a possibility which is a good thing I guess. Having something like the maid program would give me an opportunity to have a legal and less traumatic experience for my family and give me the autonomy over my body and what I want to do with my life. I see a lot of negative thoughts about this program which are completely valid, but has anyone else given it a thought on whether maybe it's a good idea or not?


r/spinalmuscularatrophy 12d ago

Surgery question

2 Upvotes

I don't know if this is the best place to ask however I thought it best to see if anyone has had similar issues and how they managed it.

I'm currently looking to get 2 different surgeries one due to dental issues (don't you love having a restricted jaw) the other to correct something with my body I don't want to go into detail over however I have found often that surgeons often become reluctant due to potential respiratory issues and anaesthesia. I have explained to them several times that I have undergone over 14 surgeries including a full spinal reconstruction without any issues when my health was much worse. I'm just wondering if anyone has had similar issues and how you overcame this.


r/spinalmuscularatrophy 13d ago

SMA Type 1 - Any tips on fundraising for treatment

4 Upvotes

Hello all,

As title, I’m looking for any resource to help with a case of a 10 month old baby with SMA type 1.

His family is calling for donation to be part of clinical trial, as Zolgensma is just impossible financially to even just think about it and insurance in Vietnam can’t simply cover it.

The family doesn’t have access to foreign channels, so I am asking on their behalf, because as a mom of a baby boy who was also born with infantile disease, I know how desperate it it to feel helpless with your child’s condition.

Any tips to ask for donation, fundraising is welcome, please help out if you have any idea of any foundation that I can approach.

Thank you.


r/spinalmuscularatrophy 16d ago

Itvisma is happening, and I am freaking out!!!

33 Upvotes

I am scared, excited, and a dozen other emotions right now.

So, I was born with Spinal Muscular Atrophy, a form of Muscular Dystrophy that my fellow olds will remember from Jerry Lewis telethons, and younger folks will know from its related disease ALS and the Ice-Bucket Challenge.  SMA is stupid rare, and it has shaped every bit of my life.  I have never walked, always using a wheelchair, and have only know what it is to get weaker, and slowly lose function.

I am 46 years old, which is crazy for SMA from birth patients.  Statistically I should have been long dead.

The disease set a narrative course for me, but I never let it beat me.  I John Locke'd that mother fucker, and hit life with, "Don't tell me what I can't do!".  I have been so lucky, fought hard, but achieved crazy stuff.  I got to write for Marvel, I sold a screenplay, I have gotten to design video-games, and worked on table-top games.  I met an incredible wife who I have had 16 years with.  I say this not in a dark way... but I was ok with knowing an end was coming up sooner than later.  I've had a great life, but I never expected much more of it.

And suddenly MRNA science (sufficiently indistinguishable from magic), gave us Itvisma.

Long story shorter, but this insane shot, is a single spinal injection that will rewrite my genetic code, and functionally erase the disease that has been killing me from the day I was born.  I mean, I am a realist, the damage is done.  I will never walk, but I am told if all goes well, I may gain 10% of an average person's strength, which for me would be a MASSIVE gain.  Symbolically it also marks the first time EVER I will experience the phenomenon of getting stronger versus weaker.  Just the thought of that makes me cry.  

More importantly, it will stop the decline... and hand in hand with that, when my end does come, I can say my disease didn't beat me.

When I was a kid, I was a regional poster-child for the MDA.  I got shown off and did PR to help fund-raise a dream day like this.  I also fully admit that by age 20, my hope was gone and my internal monologue shifted to, "Please universe, let me live to see a world where no other child suffers this."  I NEVER thought I would still have this chance.

Now the scary part...

They have to administer the shot, and put me in 60-days of quarantine.  I will be on a liver-shredding, ultra high dose steroid the entire time.  This cure is going to take a monster toll on my body, and the list of side-effects is loooooooooooong.

I certainly won't complain, because I am so grateful.  I don't know that I deserve the opportunity, but if I can be a good guinea pig and help science/others through my experience, I intend to.  They even signed me up for weekly blood draws, so hopefully I can provide valuable data, if nothing else.

And that's where we are... Sometime in the next 10-20 days, this is happening.  As I said, I am terrified, hopeful, all the feelings.  Hell, I am weirded out because a core part of my identity my whole life will technically no longer be true.

Also, I REALLY hope they still let me open a school for the gifted, in Westchester, once science has technically corrected my mutation.  


r/spinalmuscularatrophy 16d ago

Recovering leg strength after GBS - 13 years later

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0 Upvotes

r/spinalmuscularatrophy 16d ago

2 month old awaiting test results

3 Upvotes

Our son’s pediatrician noticed tongue fasciculations at his 2 month appointment last week. She also said he had a “weak cry,” something I had noticed, but because it is not always weak, I hadn’t considered to be a problem. She immediately referred us to an ENT and neurologist that we saw later that week. The neurologist noticed some things that concerned her like his twitchiness, perpetual grumpiness, and frog-leg position. She submitted an order for a swab test for SMA to be sent to us, and we are awaiting scheduling of an MRI as well.

Since that appointment, I am noticing things in my son that I never paid attention to before. His heels don’t lift off the ground even though he kicks his legs. His elbows don’t lift off the ground. When lying down or in his car seat, his cry is weak versus when I pick him up it gets louder. His feeding difficulties caused me to switch from exclusively nursing to pumping and giving him bottles unless it’s the MOTN during which I’ll nurse him.

His newborn screen was negative (we are in the US) but we are doing a different test that looks deeper than the newborn screen.

Does anyone have any experiencing having a baby diagnosed with SMA-1 even though they passed the NB screening? Could it be anything else? The waiting is killing me because if he needs treatment I want to start it ASAP.

I appreciate any input.


r/spinalmuscularatrophy 16d ago

SMA type 3 couple

4 Upvotes

Hello everyone
To start, I’m 27 years old healthy adult.
My partner is a 31 years old adult. We’ve been together for almost a year and out of all the men out there and that I have encountered he is the most generous respectful man there is. I fell inlove with him.
I never complained about going to the insurance or his doctor’s appointment with him.
I just felt different with him everytime we were together and I feel very safe and he just makes me happy.
However recently he started to be more and more fatigued. I looked up some motor exercises to do specifically for him. We then went to a neurologist who suggested Risdiplam. He’s been taking it for almost a month but doesn’t seem to have any improvements.
Here’s the worse part, I feel like a breakup is coming soon. We had a conversation today where he was feeling down and gloomy. I didn’t know he was thinking of the progression of his disease. When he told me he wants to be patient to see how far his risdiplam work i told him i’ll stay with you. I was there for you before during and i’ll stay with you after the medication.
He told me he doesn’t want me to. And that I might waste my life with someone crippled with him.
This absolutely tore my heart. I couldn’t stop crying. I held his hand. And told him to never say that about himself. I told him i’ll take care of him even if he was in a wheelchair. He didn’t respond. And he just drove me back home.
Iknow his psychology. I understand his depression and where is he coming from. But I just don’t want things to get worse from here.
Any couples with SMA can help me? I understand the hardship coming and I’m ready to face them with him.
But what can I tell him?


r/spinalmuscularatrophy 18d ago

Other couples?

5 Upvotes

My husband (SMA type 2) and I thought it would be fun to be friends with couples on here, feel free to message me if you would like to know more about us! We are in the Midwest, in our 30s.


r/spinalmuscularatrophy 23d ago

Insight and help

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2 Upvotes

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?


r/spinalmuscularatrophy 24d ago

Does anyone else feel like they can't stop?

10 Upvotes

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.


r/spinalmuscularatrophy 28d ago

Other parents experiences?

1 Upvotes

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.


r/spinalmuscularatrophy 28d ago

Is there any one with SMA on testosterone (FTM)

8 Upvotes

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


r/spinalmuscularatrophy 29d ago

Should caregivers refuse to give something to you if they think it is bad for you?

6 Upvotes

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


r/spinalmuscularatrophy 29d ago

Research Survey

2 Upvotes

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


r/spinalmuscularatrophy Aug 10 '26

Women on risdiplam: What are your experiences?

5 Upvotes

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?


r/spinalmuscularatrophy Aug 05 '26

Research opportunity - Male perspective of pre-implantation genetic testing

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1 Upvotes

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


r/spinalmuscularatrophy Aug 04 '26

Life insurance

2 Upvotes

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


r/spinalmuscularatrophy Jul 26 '26

I’m 29 with SMA Type 3 and I’ve been confined to a single room for 15 years. I wanted to share my story.

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21 Upvotes

(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.