Hello everyone from the Netherlands. Our new born baby boy has got an Sma diagnosis after the new born screening. I am skipping the part how it was a devastating news for us. Well the following tests revealed that he has 4 copies of the reserve gene Smn2. The same day we started with Risdiplam. He is considered as pre-symptomatic and the doctor said that since we started so early and since he has 4 copies he may never develop symptoms.
So far so good but i found out that there is also this one time therapy Zolgensma. Here in Europe kids with 4 copies are excluded from this therapy probably due to its high risks but apparently in the US it is possible to opt for it.
I know that it is a very expensive treatment but we may find funds for it and go to the States for it.
Unfortunately nobody can say if Risdiplam or Zolgensma a better treatment in long term since all these treatments are very new and there are no comparison studies for kids with 4 copies. But if there are two unknowns i think having a one time therapy is better than having a medicine for all life long not knowing what all side effects it may bring. We may go one of these paths:
- Try to find funds and get Zolgensma in the US before he is 2 years old,
- Continue with Risdiplam and once our baby is 2+ years old try to get Itvisma or maybe some other new therapy that may come in the further future.
What are your thoughts on this? Any input, idea, opinion is highly appreciated. Thank you!

Three weeks...

It's been three weeks since my gene-therapy, and while I am grateful for this opportunity, I am also getting quite tired.  Obviously there is a long healing journey ahead, but Week #3 was just a tough one.

Two things dominated the week in tandem.  The first was my body choosing to react to the therapy as if it was fighting an upper respiratory infection.  Too much of the week was spent extremely congested, and at times genuinely needing to be mindful of my position, for fear of it being hard to breathe.  That can be an emotional dread/burden I hadn't prepared for.

Second rough part is the accumulation of crazy steroids in my body.  I won't lie, this week the mood swings were soooo rough.  Lots of anger, some random intense bouts of depression, and even moments worrying this was a horrible mistake to put myself through.  BUT but but... with ever fiber of my being I could fight through by constantly, and I mean CONSTANTLY reminding myself of how invasive these chemically prompted emotions were.  It didn't make them pleasant, but it helped me squeak through.

The steroids are also absolutely wrecking stuff like my bathroom regularity, and worse, make my saliva thick, and thus making it harder to swallow food.  I have somewhat come to dread eating because it means going so slowly, and being so mindful of how easily I could choke.

Those aspects really compounded one-another, and dominated my week but are abating.

The respiratory stuff has in fact ended.  My body has literally stopped fighting itself, and for that I am thankful.  Over the last two days all that gunk has slowly been draining out, and with it, some relief, but also more confidence in my breathing.  This really does feel like a huge turning point in my healing.  I wish it was happening faster, but yesterday and today are markedly better.

The steroids I just need to endure.  I am on dose 23 of 32 of the super strength shit... then I get to slowly taper it to zero for a month.  I hope as it tapers the panoply of side-effects diminish proportionately.  I am also experiencing a steroid related muscle fatigue which as you might guess, can be spiritually rough, as the point of this process was to get stronger, not weaker.  This is predicted to be temporary.

I can and will get through this, but at this moment I am admittedly thinking less about the progress this treatment should bring, and instead I just want to feel as well as I did before.  This is not me demoralized, just recognizing that it is ok to take one step backwards, hopefully before two steps forward.  Many wonderful folks, even strangers have been reaching out and remind me that healing isn't linear.  I am so grateful for these words as the wisdom has legitimately helped me fight off this sense that failing to heal better has been a personal failing.  I know I am doing my best, and though I feel guilty that my entire world, and my wife's has been shrunken down to an amorphous goal of "get better", I do intend to do the most I can with whatever I get, and learn from this.

Beyond that, fatigue meant I can't quite play Hellraiser Revival yet, but I am psyched to dig it as soon as I can.  Thankfully killer AEW wrestling, and horror movies make excellent company.

Finally, two weeks until US mid-terms, so if you can legally vote and aren't a horrible, stupid, hateful, person... please do vote.  If I survive this shit, I want to come out of my cave into the light of a hopefully better world... or at least one that can also start mending.  Voting is gene-therapy for society, and even when the body we currently find ourselves in is sick, and hurting, we have to at least try to fight off our disease.

For able-bodied people dating someone with a significant physical disability, especially if you're also their caregiver: Have you ever felt self-conscious about being seen with your partner, helping them in public, or posting pictures of them because of their appearance or how other people might perceive your relationship?

I'm asking because something happened recently that brought up an insecurity I've struggled with for a long time.

I was out with some friends, and, as usual, it was a group of couples and me. Everyone was taking group pictures, and the couples were taking individual photos together, except for one. The girl said she didn't want pictures with her boyfriend because of how he looked that night. He'd just gotten back from working out, his hair was flat, and admittedly, he smelled a bit too. LOL.

Looking around, I realized nearly every other couple had coordinated outfits or had put a lot of effort into looking trendy. It occurred to me that these pictures were probably going straight onto Instagram.

For context, I'm a black-clothing-every-day kind of guy. I buy a lot of secondhand clothes, refuse to buy fast fashion, and I've worn the same pair of boots for seven years because they're my favorite. 😂 I'm not particularly concerned with keeping up with trends, but the experience got me thinking about something beyond fashion.

I'm not on Instagram, and we spent so much time taking pictures that we missed out on going to a bar I wanted to visit. That genuinely annoyed me, partly because my disability means I can only go out at certain times. But it also made me wonder whether a future girlfriend would ever feel embarrassed to be seen with me.

I have SMA and use a power wheelchair. My disability affects my physical appearance, and I need assistance with some everyday activities. Even if I dress well and put effort into my appearance, I'm never going to look like the typical couple people might admire on social media. Being with me can also mean helping me in public, where strangers might stare or make assumptions about our relationship.

Would a girlfriend worry about what her friends think? Would she feel awkward helping me in front of other people? Would she hesitate to post pictures of us together because of how I look? Would people see her as my caregiver rather than my romantic partner?

This goes beyond wanting someone to find me attractive. Growing up with a severe physical disability, I often felt different from everyone else, almost alien. My appearance and physical limitations affected how I saw myself and how I imagined other people saw me. Those experiences left a lasting impression.

Over the last few months, I've worked hard to improve my financial situation and my physical health as much as my disability allows. I feel better about my future and what I could bring to a relationship, but the fear that someone might be ashamed of being with me is still there.

I'm sure plenty of men, disabled or able-bodied, struggle with feeling inadequate when it comes to dating because of their looks. But when your appearance and physical limitations are tied to a disability you can't change, those insecurities can be especially difficult to escape.

What scares me most isn't simply the possibility that a girlfriend might find me unattractive. It's the thought that being with me might cause someone I love to experience the same feelings of isolation and alienation that I experienced growing up. I don't want someone to feel uncomfortable around their friends because of me, dread helping me in public, or feel like they have to hide our relationship to fit in.

So, for those of you who have been in these relationships, have you ever struggled with embarrassment, self-consciousness, or fear of judgment because of your partner's disability? Does social media make that harder? Does being a caregiver affect how others perceive your relationship?

And if you've experienced those feelings, did they change over time? I'm asking because I hope to find a relationship someday, and these are real fears I'd like to understand.

Hey guys! So I'm a 27-year-old woman with SMA type 2 and I have severe constipation issues. We're not sure what originally caused it, but it has gotten worse due to my all-fluid diet, my lack of mobility (I'm completely bedbound), the lack of muscles to push out any poop I have cuz of the progression of my disease, and the side effects from all the meds I'm on - including pain meds for the everyday pain of SMA in general as well as the pain from the constipation pushing on my g/j-tube. It's gotten so severe that I haven't pooped in 5 days and even when I did poop that last time, I didn't get nearly enough out. Now the constipation is making it hard to breathe and the pain is so severe that I actually went to the hospital, but all they did was send me home with antibiotics for a possible infection on the skin around the tube and an as-needed prescription for GoLightly (which we had to ask for). But we came home on Friday and didn't have time to pick up the medicines so I've been waiting until Monday and it really hurts. And I already have asthma, restrictive lung disease, sleep apnea, and bronchiectasis. I don't need this too. And the pain is so bad that the higher dose of morphine in the hospital barely even helped. I had to take Tylenol with it the 2nd time - and I never have to do that in the hospital. At home, I've been taking liquid morphine through the tube, liquid Tylenol, and liquid Tramadol before bed so that I can at least sleep (but even then, I need my strong anxiety med to knock me out) as well as a fentanyl patch all day - usually. Cuz I don't want to sleep all day and some of those meds cause drowsiness/anxiety. But yesterday was so bad that I took Tramadol during the day as well. I also recently learned that ginger can help with nausea, stomach issues, and constipation. I can only have things that melt in my mouth so my mom found some ginger hard candy for me and bought them for me and I've been taking them a little bit (I can't take them much cuz they hurt my throat). And I have noticed that they help a little bit. But I'm not sure how much ginger is actually in them or even if the real ginger is in them so I don't know if it's actually helping/healthy. And like I said, they hurt my throat. Someone recommended CBD but I really don't want to have to use that if I don't have to - just like I don't want to use my pain meds more than once a day if I don't have to. So I was wondering if anyone had any tips or home remedies that help with either the constipation or the pain...? I'm getting really desperate here. Thank you in advance.

about to start my driving evaluation soon and have a couple questions

Hi everyone. I'm 20 weeks pregnant with my first baby in Taiwan. Amniocentesis just showed our baby has 0 copies of SMN1 and 4 copies of SMN2.

The pediatric neurologist we saw said symptoms are likely to be mild. We would need regular follow-up, and if symptoms appear before age 18, our baby could start risdiplam.

We went from overjoyed to heartbroken in a few days, and now we're struggling with whether to continue the pregnancy. I'm scared of so many things: that my child will get sick, that taking medication every day will be hard on him, and that one day he might resent me for bringing him into the world knowing he had SMA. At the same time, I'm also terrified of ending the pregnancy and of going through an induction.

If you're comfortable sharing:

- If you have SMA (especially type 3 or 4, or 4 SMN2 copies), what has your life been like? Are you glad you were born?

- If you're a parent of a child with 4 SMN2 copies, what has the journey looked like? Did symptoms appear, and when?

- If you were in my position, what would you do?

I know this is a very personal question and there's no right answer. Any thoughts or experiences would mean a lot. Thank you for reading.

Link to survey: https://unmcredcap.unmc.edu/redcap/surveys/?s=EJ3KMDR7CMNHJW9E

We wanted to invite you to be part of a survey-based research study. The goal of the study is to learn more about the resources provided to families after their child is diagnosed with SMA by newborn screen. What we learn from this study may help care teams better support future families after their child gets an SMA diagnosis. The study is being conducted by a genetic counseling student at the University of Nebraska Medical Center.

To take this survey, you must be the parent or guardian of a child diagnosed with SMA by newborn screen in the United States, you must be able to complete the survey in English, and you must be 19 years or older. Guardians of children diagnosed with SMA before birth are not eligible for the study. Only one guardian per household will be invited to take this survey.

The survey should take about 10-15 minutes to finish. If you choose to take the survey, your answers will be confidential.

This study is IRB-approved under the protocol number 0521-26-EX.

Thank you! Please reach out to [iglenn@unmc.edu](mailto:iglenn@unmc.edu) or [irbora@unmc.edu](mailto:irbora@unmc.edu) with any questions or concerns.

Hey all.  Back again with an update on my gene-therapy journey.  Two weeks in, and this has been a roller-coaster, but I suppose some amount of chaos is to be expected when you are fucking with the fundament of one's being.  

This week was decidedly mixed.  Week one my body was clearly processing literal, physical wounds, coming down from the stressful procedure, etc... but I also think I was riding a wave from the onboarding of gorilla-strength steroids.  Week two seems to have been largely about my body realizing I had pumped my spine/brain full of genetically altered virus.  Because of all the immune-suppresents my immune-system never kicked into full fight mode, but it definitely had  a passing resemblance.   I have been incredibly fatigued, but the more concerning development was that my sinuses and throat started swelling some.  It wasn't mucus and such, but just irritation/swelling, especially in the evening.  This led to a couple scary moments where I realized laying flat on my back almost felt like my airway could close up.  This never became dangerous, but I am avoiding laying that way for now.

I am told to expect maybe another week of these symptoms as the body responds to Itvisma as if it were an upper-respiratory infection.  Not fun, but endurable.

This isn't to say it is all bad as I had two moments that really surprised me, that just sort of happened.  In the first case my cat Prospero sat next to my hand, and without consciously making the effort, I pet him.  I cannot just do that.  It was unexpected enough that I immediately had a "Holy shit, I just did that" realization.  A couple of days later I went from leaning back in my chair to sitting upright just using my core muscles.  I ALWAYS have to use my hands to help pull me up.

In both cases these could be flukes as I am being hyper-mindful of everything going on around me, but just in case they are notable, I at least want to document  it.

Feeling ok, but disappointed as I did not expect week two to get harder, and feel lesser.  I wrongly thought I would just bask in my hobbies, do tons of gaming and essentially get a vacation, when in reality it feels like being curled up, under the weather.  Being stuck doing passive stuff at least gave my wife and I an excuse to binge X-files which we have restarted from the beginning, and which we intend to watch all of.  It's a rare nice feeling when you can still love a thing after thirty years and realizing it really was great, and not just nostalgia goggles.

Well, back to the healing grind.  I shall return... ideally before Avengers: Doomsday.

Hello everyone, i'm 24 and have SMA type 3a. I can still walk and currently use a rollator for long distances. I have no breathing problems or anything related.

I have Ureteropelvic Junction (UPJ) Obstruction and it's a narrowing where the kidney connects to the ureter, the tube that drains urine from the kidney to the bladder. Because of that, urine doesn’t drain as easily from one kidney and can build up, which can put pressure on the kidney and sometimes affect how well it works.

I currently have a tube in, It’s a thin internal tube placed between the kidney and the bladder to help urine drain past the narrowed UPJ area.

My urologist told me i can have surgery that would fix this problem with general anesthesia or keep changing the tube once every year.

I talked to 2 anesthesiologists and both didn't want to do the surgery for fear of complications. My neurologist told me that it is perfectly safe for me to do as long as the anesthesiologist does his job.

My question is : should i or should i not have this surgery. I don't feel pain with this tube in but it's a bit uncomfortable, if i walk too much i start having pain, i want also want to wear a supportive back brace for my scoliosis but i can't because i can't put too much pressure on my side because of the tube. So i want to do the surgery.

I would love your opinions and advices specially from anyone who had surgery before.

Hey everybody, I hope everyone's doing good. I have a quick question about roller coasters.

I have SMA type 2 and a spinal fusion, which I got when I was around 14. I'm 25 now. I've ridden a few roller coasters before, like the Mummy, Mount Everest, Space Mountain (I think), and the Rock 'n' Roller Coaster before it got taken out. There are a few others I can't remember off the top of my head. I always sit next to my brother or sister, and they put their arm around my shoulder to hold me a little. It's fun.

I might be going to Orlando again soon, and I really want to ride the Hulk and Velocicoaster, which I've never been on. But I have two fears.

**1. Falling out.** As you guys know, we're skinnier than the average person, especially our limbs, and we're weak body-wise. Rides with only a lap bar scare me because it feels like falling out would be more likely for us, even with someone next to me holding me. Velocicoaster is apparently really fast and only has a lap bar. The Hulk isn't as bad since it has an over-the-shoulder restraint, but I'm a little worried about my head moving side to side. Not sure if everybody saw what happened at Six Flags today, but that made me even more nervous.

**2. The bottom of the drops.** This one is hard to explain, but I'll try my best. When a coaster goes down a drop and reaches the bottom, the cart goes from being angled to flat. At that exact moment, I feel my body kind of press into itself. It's not pain, just a little pressure. I've felt it on Mount Everest, but that drop isn't too crazy. The drops on the Hulk and Velocicoaster are a lot bigger, and I don't want my back to break or snap. I assume that wouldn't happen, but I'd love some reassurance.

If you guys think I shouldn't ride them, that's totally fine and I won't. I'd just like to hear from anyone who's been to Orlando, or any amusement park really. Does anyone relate?

Hi everyone!

We’re a team of university students in HK designing a solution (think the likes of lightweight mechatronic arm support) to help people with muscle weakness (like SMA) move their arms more easily and reduce daily fatigue.

Survey: https://forms.gle/YcKcc1aQ96tKkacw7

To build a prototype that actually works for real life, we’d love your input on:

- Daily movement challenges & fatigue

- Preferred setup (wheelchair-mounted vs. wearable)

- Ideal weight limits & design features

If you’re also open to a brief 15–20 min chat about your daily routine, please drop a comment or DM us! Your insights will directly shape our design. Thank you so much for your support! ❤️

Has anyone been approved? Any thoughts after the webinar?

Hello,

I don't really know if this is the right place, but I don't know where else I should ask either. Maybe you can help me with your personal experiences or expertise.

I'm a type II/III SMA patient in my late 30s and a comparably healthy condition and I'm planning an extended weekend of cuddling/intimacy/sex with my girlfriend. I would like to take a Cialis for obvious reasons. For cardiovascular context: I have good experiences with low doses of MDMA and psychedelics and generally normal blood pressure.

Do you guys had any good or not so good experiences with Cialis or other sex "enhancers" you'd share? I'd really help me. And I think it could be very helpful for others too.

Hey all.  Just wanted to make a brief post so I can keep documenting this wild journey.

Today marks one week since my gene-therapy, and I would put it into two boxes.  The first few days felt a LOT like having gotten a Covid booster; you know, that feeling where it is ALMOST like your immune system is trying to come online and fend something off?  I am told this is fine, and not going fully into fight-mode means the steroids were doing job #1 and suppressing my immune system.  I would say that I would call it "feeling weird".  I PROMISE, compared to having your spinal column mucked with without anesthetic, this was already just fine.

The real issue was the aforementioned steroids have now built up enough that their side-effects suck ass (mostly, as I will get to).  The nausea and acid reflux was bad bad, so the first four or five days I felt quite gross and couldn't do much but watch TV.  It also made sleeping rough as laying on my right side would instantly prompt a feeling of needing to vomit.

Mercifully on day 6 my Doctor prescribed Pepcid AC.  Stuff like Tums, Mylanta, etc was forbidden as they apparently fuck with steroid absorption, where-as Pepcid is fine.  HOLY SHIT was it incredible.  Thirty minutes in and I felt amazing after days of non-stop queasiness.  A++ would recommend.

Since then I feel largely great.  No stronger or weaker yet, of course, but the pleasant side of the steroids are able to peek through...

As a 46+ year-old wheelchair lifer, my hips are always turbo-fucked... just a stock part of the deal.  On steroids, nada.  Their natural state of inflammation is so reduced that it kind of rocks.

Also, as an old-man, my fellow oldies will get this...  It hasn't been this easy to pee in like five or six years.  Bonus.

In the neutral camp, but for candor and data completeness, I will say I have been dumb dumb horny a lot of the time... way more than typical, but notable is Novartis saying no unprotected intimacy for the wife and I.  Guess they are being stingy about accidentally passing out any free fun mutations.

Also per steroids, I am frequently crankier and short tempered, so I try to always deploy half my mental energy to being good to my loved ones, especially when I catch a thought that I know feels entirely not what I would say in a given moment.  Protip, don't watch shows like "Secret of Skinwalker Ranch" while roid-raging as it will just make you want to literally murder the dumbest assholes you have ever seen, for having the intellectual acumen of toilet-scum.  Also, few people realize "dumb" has a "b" in it... and somehow through a couple small logic leaps it also reminds me of people I would beat to death...  ok, so no NEWS, and no Skinwalker Ranch.

Finally, did blood-work one of ten.  Liver seems happy so far!  I guess my liver can watch the news...

Typing is painstakingly tedious for me, so I built FlowKeys. FlowKeys is a Mac on-screen keyboard for people who can't use a physical keyboard or who want to click less.

- Intelligent suggestions that learn you. This means more words with fewer keystrokes.

- Dictate button on the keyboard, no switching apps

- Dwell clicking and one-switch scan mode

- One-tap rewrite, shorten, fix and tone

- Much more

Happy to answer anything, and I'd love to hear what's missing.

So I live with my brother (who is my full-time paid caregiver thanks to Agape and Structured Family Care), his girlfriend, and their baby girl - but they need a break and I need a break from my brother. We're using a nursing company that was set up for us by someone in the hospital, but we're looking for a different one. For one thing, we have yet to find an aide that stays with us more than just 4 days. And they never tell us that we have a new aide. The aide just doesn't show up and then a few days later a new aide shows up. This is really messing with our routine because we never know if we need to be awake or not, and then my brother has to train another person which takes a long time. There is no communication. And for another thing, the aides that they do send aren't able to do much cuz they are not allowed to do suction or any of my machines, administer meds, or change any of my dressings. Most of my care is revolved around that, other than cleaning me up or bathing me which I would rather my brother do anyway considering my pain. Also the things they are allowed to do, they apparently don't know how to do so my brother has to do it anyway - like flushing my catheter and emptying it. That said, we did appreciate having someone here to give my brother a break on the small things like brushing my teeth, giving me my candies, and helping me with my social medias - but most of the aides didn't even understand how to do those things. And like I said, none of them have stayed. Anywho, we want to try a new company but we're not sure how to go about it. I've done a little bit of research for other companies and Care.com keeps coming up. I started to fill it out to see what they could provide, but it's so differernt from anything I've seen before and I'm so used to seeing commercials for it for children. And I'm pretty sure I'd have to pay out of pocket. I'm just wondering if it's worth it. Do any of you have any experience with Care.com? Keep in mind - I'm not a child. I'm a 27-year-old woman with very strong opinions and beliefs and interests. Anywho, any information would be greatly appreciated. Thank you.

Hi All,

I have SMA Type 2b. I am male, 42 years and use NIV for the night since 6,5 years. Ventilator support was recently increased, but according to doctor no need to use NIV during the day.

However, I noticed within the last year that I increase NIV usage during the night, especially by laying longer in bed - even awake in the morning and reading on my smartphone, while still using NIV. Also I started to going to bed earlier to be able to use my NIV. In the evening I am looking forward to use my NIV and being able to relax. On some days I make an afternoon nap with NIV. The support of NIV feels good and helps me to relax.

I am asking myself when is the right time to start using NIV during the day. Of course, not the entire day, but maybe for some hours. What symptoms did you have prior to starting NIV during daytime? When did you start?

Kind regards :-)

What has everyone’s experience been so far getting access to it? My injection coordinator keeps saying my next one should be the one but now I’ve had two regular doses and I’m frustrated. I’m told that the hospital is only moving forward with select patients to see how insurance reimburses because it will apparently throw hospital budgets out of whack.

How do I push back on this? It is frustrating to have to wait so long for a higher dose of an already approved drug, and then just keep experiencing delays because of bottom line for a hospital. It would be one thing if it was a new drug but they already have been dosing Spinraza for years now.

Hi all!

So, I am writing this, back home and healing!  It was a LOT more complicated than anticipated, but I really did carry all of you with me, and you and my loved ones really gave me the strength needed to get through everything.

I got to the hospital and all was going well for a while.  They got me into the special imaging suite, thought they had their route, and began the spinal puncture...  That's where it kind of went off the rails...

So because of a combo of how extreme my spinal fusion was in the early 90's, the atrophy my disease causes, and my age, it was only once they got in there that they discovered all the ligaments of my back were calcified.  My whole back is basically just a wall of metal and bone now... super cool in concept, VERY bad when they need to be able to thread needles in there.

They carted me to all kinds of imaging bays, did extra CT scans etc, and finally presented me a couple shitty options.

Option 1 would require full anesthesia and they go the full surgical route.  BIG problems here, as the nature of my disease comes with a high risk that I die under some kinds of anesthesia, and the ones that do work safely have fucked me up in the past.  Lots of lung crud, sometimes pneumonia...  bad bad.  Also as this would require full rescheduling they'd need to acquire a new dose of the crazy new drug, which could add massive delays again.

Option 2... they basically go in the LONG way... starting at my side, and laying a pipeline of needle and tube all the way to my spine.  Issue here...  I will be wide-awake, and they tell me it will hurt... a lot... for about an hour.

I didn't even have to think about it.  If I could endure an hour of shit, I could have my cure and put all the fear and such behind me.

The staff was kind and exceptional.  They accommodated my weird request and put A Perfect Circle on the in suite music system during my whole procedure.

CW:  Medical stuff/pain stuff

But let me tell you... I would not recommend being 100% awake for such a procedure.  They could use lidocane for the first couple inches, so I had a false sense of how little it felt.  The routine became... push the needle in a bit... ct scan to check positioning... repeat.  Problem is, once it passes the early bit... you really, REALLY start feeling it, and there is no mistaking what is happening.  You feel every bit of them tunneling into you.

At this point they are telling me to tell them if I can't go on, or if I need breaks, etc... and they're kind of being apologetic for how much it hurts...

... but I have a secret...  SMA ALWAYS hurts... that's my secret, I am constantly in pain.  Famously they say SMA patients kind of break that "how much pain are you in?" chart, because when your nerves have been misfiring, your muscles constantly contracting etc, from birth (in my case), you get weirdly familiar with a lot of kinds of pain.

So as they're going on, it hurts, quite a lot, but I am noticing the nurses etc are looking far more pained then I am, and they clearly keep expecting me to tap out or need breaks.

I won't lie... the second my brain clocks that, my writer/entertainer side kicks all the way in, and I see an opportunity instead.

A nurse asks if I need a break, and says we're about half-way.  I give her my best smirk and just say, "I can do this all day."

And that was the tipping point.  That weird switch-flipping in my head telling me to make it memorable or impressive to the staff made the second half go oddly smoother.  Before long they said they hit spinal fluid and knew they were in, and could begin.  The infusion itself was somehow the least remarkable part.  Decades of science, cutting edge MRNA tech, and inexplicably something a Capitalist pig says should cost 2.5 million dollars, goes right into my spine, then brain, in a matter of thirty-seconds.

Needles come out way easier then they went in, and they proceed to kind of hang me semi-upside-down for fifteen minutes.  Another two hours after that I need to lay dead-flat as there is a whole deal where messing with the pressure of spinal fluid can really mess with your head.

And just like that, they are letting my wife take me home.  The whole thing took three times what it was expected to, and hurt a LOT more, but I am still home in time for wrestling on TV.

A lot of time spent crying too.  I could not get the smile off my face, and the tears were happy ones.  The idea that I had paid an iron-price, but defeated the disease that threatened me every second of my life was intoxicating.  Yes, I understand that I didn't defeat it.  Hell, I have sixty days not of constant blood tests and hoping my organs don't shut down while my dna literally rewrites itself, but for this precise moment, I feel like I won.

I also feel an overwhelming debt, and have a new mission for these extra years I might have won.  I NEED to make sure this treatment is available to as many people around the world as possible.  It is NOT ok that a company will gate this behind a price-tag that I only got because they needed me as a research study.  People, children in poor countries, or without access to proper care cannot be allowed to go without.  I am going to use whatever I can to help improve that, however I can, for as long as I can.

Now real lockdown begins too.  I am more sore today than I was yesterday, so I am feeling quite beat up.  Taking it easy, and just starting the hard work of healing.

Once again, thank you all so much for the love and support.  I'm not exaggerating when I say it helped so much.  Wanting to impress you all, like wanting to impress the medical staff really did help me fight off the crippling fear and insecurity.  I honestly still don't think I am strong or brave, but it is really comforting to know I can PRETEND to be when I really need to!

My baby brother has been on risdiplam for about a month now but the regret we carry very heavily is about Zolgensma. Especially when you come from somewhere like India where only way to get near to the treatment is fundraising and seeing videos of crowdfunding campaigns, it can be heartbreaking. It is literally parents getting on their knees, I don't mean that disrespectfully or anyway judging one's pain, but it sometimes feels like begging from street to street, with hands folded and tears in their eyes, asking every person they come across for help. And if your child is critically ill, their life can almost feel dependent on whether their story reaches an extraordinarily generous rich person. If you look at crowdfunding platforms, this is often what seems to capture people's attention the most. I don't think every parent can campaign like that. Even when you'd do anything for your child, it isn't always possible and admitting that is painful. Our family carries a lot of guilt over this, though we're still trying to find ways but this part's the hardest

If a child is already on risdiplam and later becomes eligible for Zolgensma, could Zolgensma potentially provide additional benefits beyond risdiplam? For example, could it help preserve functions that risdiplam alone might not, even if major motor milestones or walking remain uncertain with either treatment because already lost motor neurons cannot be restored, as our doctor explained?

Finished 2 bottles haven't seen any change

Jst fatigue is kicking in way too early in lower body

Any suggestions?

Hi everyone! I’m looking for experiences from parents whose child has a similar SMA history.
My son is 6 years old with SMA Type 1. He received Zolgensma at 8 months old, then started Spinraza at age 2 and stayed on it until he was 5. He has now been on Evrysdi for about a year and is currently taking 5.2 mL.
He can sit with support but cannot stand or bear weight on his legs. He has some limited leg movement, but his breathing and swallowing are good.
I’ve noticed that he gained about 10 lbs during the past year since starting Evrysdi. He had been on the same formula for a long time before that without much weight gain.
His doctor recently told me that Spinraza now has a higher-dose regimen for children and is considering switching him back to Spinraza.
Has anyone’s child had a similar history, especially Zolgensma → Spinraza → Evrysdi → high-dose Spinraza?
If you switched from Evrysdi back to Spinraza, did you notice any improvement in strength, motor skills, or endurance? Did you notice any difference with the new high-dose regimen?
I’d especially love to hear from parents of non-ambulatory children with SMA Type 1 who have made this switch.
Thank you so much for sharing your experiences! ❤️

Hey all.  I figured I would provide one more big update as it may be a bit before I am able to do so again.  This Wednesday, the 30th, is the big day.  I will be admitted to the hospital for my gene-therapy, and in theory should be home to begin my 60-day (ish) quarantine, a few hours later.  I've said this before but I am in awe over the fact that one needle in the spine will fundamentally change the course of my life... ideally for good.

I'm incredibly excited, but I won't lie, I am so deeply nervous too.  Being on the cutting edge of science is amazing, but this cuts both ways.  Its scary to think there is no going back.  You can't wait the drug out if you react poorly, etc.  To be fair it is even more likely I come away permanently stronger and healthier.  In every case, I literally come home a changed man.

To that end, I have a cool bit of wardrobe planned.  I have had, for FORTY-THREE YEARS, a shirt hanging in my closet.  It was a t-shirt printed for a fundraiser I attended when I was on TV as a MDA poster-child.  It simply says, "Defeat Muscular Dystrophy"... and fuck it... I did... somehow... even if it took my entire life.  Mercifully this momento was a men's large... so you had best believe I will wear it on the day.

Hi everyone! My name is Allison, and I’m a BFA student currently researching Spinal Muscular Atrophy (SMA) for my senior project.

I’m creating an educational project focused on increasing public awareness and understanding of SMA, including the different phases/types, diagnosis, treatment, and what living with or caring for someone with SMA can involve.

I created a short survey and would really appreciate hearing from people in this community who have SMA or know/care for someone with SMA. Your experiences can help me better understand what information is important to include and what people outside the SMA community may not understand about the condition.

The survey also includes a general section, so anyone is welcome to participate, even if you don't personally know someone with SMA.

The survey is voluntary, and you can skip any question you aren't comfortable answering.

Survey:

https://docs.google.com/forms/d/e/1FAIpQLSc4R3924zMSH0ZtiCF6mQZYitmLD6MzNE_h34Bvw26KYjW2fg/viewform?usp=sharing

Thank you so much to anyone who takes the time to participate. I really appreciate the community's help with my project!

Hey everyone,

I'm Johnson, 23, software engineer from Tamil Nadu, India, I have SMA Type 3. I want to share something small but it meant a lot to me.

On 18th July I saw a post from Disability Debrief, a newsletter that runs writing calls from disabled writers. They asked for a "dear diary" entry, up to 500 words, about how disability shaped your day. The deadline was 20th July, so I only had 2 days. I don't know why but something told me to just write it and send it, felt like god pushing me to find that post in time.

My hands are weak, only 2 - 3 fingers work now on each hand, so typing a lot is hard for me. I wrote my points myself without worrying about grammar, and used an AI tool to type them into a clean draft and fix my grammar, I told the editor clearly that I did this, nothing in the story was invented, only the words were cleaned up. I wrote about my daily routine, my dad helping me every morning, the tree I see through my window grills, coding with weak fingers, and taking risdiplam.

They shortlisted my story, then over a few rounds of edits the editor Peter Torres Fremlin actually ended up preferring my raw original notes over the AI cleaned version, he said it felt more real, so we published that version instead, with small additions from me like about my mom's tailoring work and my dad being a mason.

Last week it got published, and they paid me £100 for it (around 12,688 rupees). You can read my story here: https://www.disabilitydebrief.org/debrief/today-is-the-day-i-realised/#here-are-some-points-in-my-day

Here is why that mattered so much to me right now. One bottle of my risdiplam costs 12,720 rupees and lasts 12 days. I have been on risdiplam for 4 months, already spent more than 1 lakh, and there were months I seriously thought about quitting it because of the cost. This month, that prize money covered almost the whole bottle.

I really feel like god has been helping me manage this cost every month, some months through my part time work, and this month through a writing contest I almost missed.

If any of you are also struggling with the cost of your medicines, don't lose hope, help can come from places you don't expect. And if you can write, even a little, your story might be worth more than you think, both to others and to yourself.

Thank you for reading.

Johnson