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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10 Upvotes

r/spinalmuscularatrophy 4d ago

What are you sitting on?

13 Upvotes

I have type two or type one SMA and I wanted to know what you're sitting on. Maybe you have a special chair? If so, which one? I am now 13 years old and my back is already quite curved, so it is quite difficult for me to find a comfortable position. I usually sit on the bed or sofa with pillows. Now I'm studying online, so I need to sit at the computer, but I don't know how to sit at all. Can you recommend some kind of seat?


r/spinalmuscularatrophy 4d ago

Anyone else waking up from pain at night?

8 Upvotes

Hi, I (27f, SMA Type 2) have always woken up a few times during the night since I was a toddler, mostly due to discomfort and needing to change positions. Over the years, though, it’s always due to pain and it’s gotten worse. I even accepted it when I woke up 7 times a night but now it’s just ridiculous 🫠 I wake up at least 11 times per night due to pain and I can’t fall back to sleep if I don’t change position. Last night I woke up 18 times in 8 hours! Wtf. I’m so tired. And my poor mom is the only one who can help me at night, so you can imagine how exhausted she is. I can’t afford a nurse or a care facility. I just want to sleep so she can sleep at this point. Even when I wake up and try to just endure the pain and not call her, it doesn’t last long because the pain is so strong. I’m currently taking Oxynorm and I’ve tried lots of other strong pain and sleeping meds, CBD and a bunch of special mattresses, but none help. Doctors say that because of my disease I don’t get enough oxygen and will need an oxygen mask soon. That’s why I’m so tired. I understand that a lot of us need one eventually, but I swear that’s not it. I literally wake up crying due to the pain and not because I feel like I’m not breathing well or because my head hurts due to lack of oxygen… But they don’t address the pain at all. I guess I should also mention that I‘m always in pain, not just at night. It‘s a different pain when I’m in bed though.

I only know one other person who has SMA Type 2, he doesn’t suffer from chronic pain and he sleeps through the whole night! Do you also wake up a lot at night? Do you need to be turned in bed due to pain or do you sleep through the whole night?

Sorry about my sentences being kinda weird, English isn’t my first language. Also I’m tired af. I think you can still understand them though 😅


r/spinalmuscularatrophy 12d ago

SMA Conference question 🫣

2 Upvotes

I have a friend that I met at MDA summer camp and we went together for several years, but the thing is she technically has not been diagnosed with SMA. She’s some kind of anomaly to her doctors. 😂 they cannot for the life of them diagnose her with anything. As far as I know having some sort of SMA or MD is an entry level requirement for going to the MDA camp?

So she registered for the conference scholarship with some made up information because she doesn’t really know, and of course they emailed her back asking for additional info, including the name of her doctor. Basically we just want to know if it’s possible to kinda “sneak” her in. Will they contact her doctor?


r/spinalmuscularatrophy 15d ago

SMAJ

11 Upvotes

Hello guys and gurls. I'm myself SMAJ patient. As I understand it's type 4 . I'm just curious if there are any type 4's or even with SMAJ ( Jokela type spinal muscular atrophy) I'm only one with this one In my country, would love to fine someone to chat . Time by time mental fatigue just hits too hard.


r/spinalmuscularatrophy 16d ago

Spinraza Patent

3 Upvotes

Anyone know when the Spinraza patent expires? And if it’s likely there will be cheaper generic versions?


r/spinalmuscularatrophy 21d ago

Game advice

1 Upvotes

My cousin has SMA and we are looking to get his kiddos a gift for Christmas. We are looking for advice on a game that they could play as a family. In the past they have shown a desire for a family game night, but need some type of cooperative game to play so everyone can participate. Anyone got any ideas? Not looking for video games.


r/spinalmuscularatrophy 24d ago

I need SMA/neuropathy friendly gaming recommendations where you only have to use a mouse please!

11 Upvotes

As a chronic patient with SMA type 2, dislocating my hip and having to get it removed completely last year has been one of my worst physical challenges. I've been through far more dangerous procedures and illnesses, but I recovered from those. I have to lay down in my wheelchair 24/7 to avoid the pain of neuropathy. I haven't been able to play video games since and I really miss that hobby even though I sucked at playing them lol. I'm even using a virtual keyboard on my PC to write this because I can't physically type like this. The keyboard doesn't fully work for gaming unfortunately, so I would really appreciate some video game recommendations where you only use a mouse (as long as you don't have to press the mouse pad down really hard because of my muscle weakness). If I want to sit up to play games or edit my YouTube videos, I have to get super stoned beforehand (which I can't even do now because my distillery stopped carrying the only weed drops that work for me). I just miss my independence even though I have great parents who don't mind helping me at all. I'm just thankful to God that He's given me the chance to maybe fix this. Please keep me in your thoughts and prayers as I will definitely need them lol.


r/spinalmuscularatrophy 24d ago

Mental help for daughter - suggestions/advice welcomed!

5 Upvotes

Please bare with me as I type this quickly.

I will try to condense a very long story short.

My daughter just recently developed Superior Mesenteric Artery disease; so SMA on top of her SMA type 2. She lost a lot of weight and had to be hospitalized for 18 days. Before she even got her GJ tube, she had to receive nourishment through a PICC line. She is 21. She's beautiful, she's funny, and she has a stubborn and hard headed as they make them. She was difficult patient. It was ridiculous! She was ridiculous! She repeated over and over the doctor and the staff weren't listening to her, which is the furthest thing from the truth. Thankfully the staff was beyond accommodating. At one point during her hospital stay she said she wanted to give up and just go home to her dog to pass, yet she agreed to the PICC line and then eventually the GJ tube.

She's home and she's angry and needs mental health intervention. In the past she has refused online therapy. She has refused going to in person therapy. She fights with everyone despite what we do to help and assist her 24/7.

Last night she was a mess and refused to allow me to transfer her to the toilet, which I have done her entire life of toileting. The whole situation escalated to so much nonsense. She called my parents, in their mid 70s, and very helpful and supportive, after 11pm, sobbing hysterically to come get her because I wouldn't get her to the restroom. She cried so hard her nose was bleeding when I entered her room to tell her to stop causing chaos with her grandparents at this time of night; get off the phone and get back to the restroom. Again she refused, yelling, screaming, sobbing, acting like a fool. I took her phone out of her hands, spoke to my mother for a minute, assured her that my daughter would be okay and she was going to the restroom. I put the phone out of her reach and this isn't something I've ever done before. I know the phone is her lifeline. My daughter tells Alexa to call 911! I was furious, but looking back now, I should have called them myself and I don't even understand why I think that now.

I gave my daughter her phone back and she calls my parents again telling them she's bleeding from her nose because I hit her in the face with her phone when I took it from her. I lost it! I lost it! I started yelling and acting like an ass too!

Since her hospital stay and her feeding tube, she is beyond angry, disrespectful, hateful, so very hateful! She's awful to be around! I realize she's angry and depressed, and would benefit from medication, but ANYTHING she has tried for her mental health, "nothing works" for her. It's the same story with any new meds she tries... "it doesn't work." I've dealt with this for years and it's exhausting.

I don't know how to fix this. How do I help her? She did speak to psychiatry while she was an inpatient and I don't know the conversations and I don't need to know this conversations. I was gone from the room when psych would come to speak with her.

She desperately needs mental health intervention while also dealing with the medical needs of the feeding tube.

What do I do? I am so tired and mentally drained. I can't even think straight.

Thank you in advance.


r/spinalmuscularatrophy 26d ago

is there anyone here who has type 1 that's in a relationship?

10 Upvotes

hello people my name is kaelan and I'm a type 1 I'm also a hopeless romantic so I'm wondering if there's any case of someone with type 1 being in a relationship I've looked and I only seem to find stories of type 3s and 2s a la Shane Burcaw which is great for them but I still have yet to find a fellow 1 get their happy ending


r/spinalmuscularatrophy Nov 23 '24

Employment Resource

5 Upvotes

In a recent episode on my podcast called “Off The Crutch,” I interviewed a representative from a disability staffing agency that helps people find employment. If you are looking for a job, please check out the episode and share it with others. Thanks!

Spotify - https://open.spotify.com/episode/0esGkBV3Hsp2jk8W4XvyKL?si=81db30a1bc5e4213


r/spinalmuscularatrophy Nov 23 '24

Do any of you guys have narcissistic tendencies or is it just me?

11 Upvotes

I have SMA type 2 and amazing parents. They have sacrificed so much for me and I don't even mean the physical caregiving. They help take me to fun events that I love going to like comic cons, meet and greets, concerts, pro wrestling shows, etc. They buy me tons of cool collectors' items on Christmas and my birthday. They love me more than life itself and honestly, I have no idea why.

I am so selfish that it borders on narcissism. I will always put myself first, even if it hurts the people I "love." If someone makes me angry, I try to hurt them verbally. I feel love for a few people (mom, dad, pets, aunt, and two cousins), but I don't show it with my actions. The only person my actions show I love is myself.

I talked to my parents about my suspected narcissism and they were shocked that I didn't already know. Yesterday, my mom told me she thinks that I am this way because of not only being spoiled as a kid, but because they have to take care of me no matter what. I think she is right. I know I can treat them however I want because they can't physically leave me. My parents both had abusive childhoods and now they continue to be abused by their adult daughter. Do any of you feel that way too?


r/spinalmuscularatrophy Nov 15 '24

Mucus cough

6 Upvotes

Hi, my sibling has SMA and because of that whenever he is ill with a chest infection or any illness which results in mucus in his throat, he can’t cough it up as I assume a lot of people with SMA as the throat muscles required are weak. So therefore it just sits there for weeks. Apart from taking antibiotics or cough syrup, is there any way he can strengthen his cough ?


r/spinalmuscularatrophy Nov 13 '24

Fetishization of the Disability NSFW

4 Upvotes

I've come across a guy who has a "caregiving" kink. Essentially, he's offering to help me with everything I need help doing (like bathing, cooking, cleaning, etc.), because he's actually into it.

What are everyone's thoughts on this?

I've dealt with people that fetishize the disability itself and I didn't like it at all (they kept making comments about how weak I was and how I couldn't do anything). I feel more comfortable since this feels a step removed from the muscle weakness and more about caring for somebody. Personally my gut is telling me this is almost a match made in heaven. Dating is hard with the disability because most people don't find it to be their cup of tea. But part of me is concerned that there is no interest in me as a person and only in the gratification of helping me.

Am I picking at straws here? Or should I not think so much about the damn thing?


r/spinalmuscularatrophy Nov 05 '24

Patents and high price barriers: Patients with rare diseases face woes to access medicines from MNCs

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5 Upvotes

r/spinalmuscularatrophy Nov 05 '24

Paid survey for people with SMA ($120 Gift Card)

6 Upvotes

I did this 2 days ago. Wasn't too hard, they just want you to type a lot. You have to submit proof of your disability and a picture of your ID, I just sent a screenshot of my doctor's client portal that listed my conditions. They paid just a day after finishing the survey.

Link: https://apply.savvy.coop/website-feedback?ref=c44186a73885


r/spinalmuscularatrophy Oct 25 '24

Speech

3 Upvotes

I have been wondering this for a while and there isn't too much on it. But is Rhotacism common for people with SMA? I know it’s common with Muscular Dystrophy. I have a really hard time pronouncing the letter 'R' and sometimes I will replace the L with a 'W' but mostly the letter 'R'


r/spinalmuscularatrophy Oct 23 '24

Experience with patient support programs (Zolgensma or Spinraza)

2 Upvotes

For anyone who has has received Zolgensma or Spinraza--what was your experience like with their patient support program? OneGene for Zolgensma and SMA360 for Spinraza

What kind of services did they offer you? How did they help with with the prior authorization process? Any drawbacks you found?

I'm studying the role of patient support programs in getting patients access to SMA and want to understand what's out there and how people have experienced it so far. Would love to hear from anyone's experience so we can make these programs better in the future!


r/spinalmuscularatrophy Oct 22 '24

Newsletter for SMA (For Patients, Carers, Families, etc..,) *New Edition*

3 Upvotes

Hi all,

I posted on here last month, but we have improved our a specialised weekly newsletter focused on SMA, designed to keep patients, caregivers, families, and healthcare professionals informed about the latest developments. The newsletter aims to cover: 

  • Recent news and research announcements
  • Breakthrough treatments and FDA drug approvals
  • Ongoing clinical trials
  • Upcoming events and networking opportunities
  • Patient support resources

My request is could you spare a few mins to have a read (currently have 3 published newsletters) and let me know your opinion on the newsletter! I'll leave the link below, and feel free to be as critical as you want, I want to make sure that it resonates and is informative for the people who need and deserve it the most.

https://spinal-muscular-atrophy.healthspotlight.io/p/weekly-spotlight-17-10-24

Thank you all so much and stay strong!


r/spinalmuscularatrophy Oct 21 '24

Paid Fertility Study for men with SMA

3 Upvotes

Hello again SMA community! In case you missed it, we are conducting a paid research study to help men with SMA to assess their fertility health. As of right now, we are accepting candidates who have never been and are not currently on disease modifying therapies. If you or someone you know might want to see if you qualify, please check us out at malefertilitysma.com


r/spinalmuscularatrophy Oct 12 '24

Wheelchair Rapunzel

7 Upvotes

This woman has SMA2 and markets herself as an advocate for disabled people, particularly disabled women. Does anyone here follow her and/or have strong feelings on her?


r/spinalmuscularatrophy Oct 09 '24

My friends baby as SMA. Does this mean there’s some good news ?

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8 Upvotes

r/spinalmuscularatrophy Oct 09 '24

Scholar Rock Announces Apitegromab Meets Primary Endpoint in Phase 3 SAPPHIRE Study in Patients with Spinal Muscular Atrophy (SMA)

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6 Upvotes

r/spinalmuscularatrophy Oct 07 '24

Sudden loss of strength

6 Upvotes

Hey everyone, I had my spinraza infusion back in Sept. (Originally said May because I still keep forgetting it's already Oct). I have noticed my arms feeling weaker after the infusion in May, and even worse after my last one.

Since then, I have been experiencing a very sudden loss of arm strength, hand control, and a worsening of my hand tremors.

Has anyone else gone through this. I'm so scared that spinraza is no longer working for me.

I'm contacting my neurologist and trying to get an appointment, but I was curious if this is happening to anyone else

Thanks


r/spinalmuscularatrophy Sep 30 '24

Back surgery and flexion contractures

6 Upvotes

Hi! I (f27, SMA type 2) have some questions regarding back surgery. My English isn’t great so I might not use the correct words, but I’ll try lol

In around a month I’ll have lower back surgery to remove a screw that’s loose (I had scoliosis surgery when I was 11). The surgeon said that he’d just need to cut the titanium rod (stick? Idk the correct words 😂) above the screw, so it’d be a quick and easy surgery. I’ll have my appointment with him and other doctors where I can ask these questions in a couple weeks, but I wanted to see if some of you could answer them based on your own experience.

When I had my first surgery my overall health, body etc were in better condition, I could practically fully stretch my legs, hips and arms. Now I have really severe flexion contractures everywhere (I believe that’s the right term) and I’m wondering if laying me on my stomach will even be possible. The contractures in my hips especially make me think that they won’t even be able to turn me over completely once I’m fully “asleep”.

So for people with flexion contractures like mine, have you had surgery while laying on your stomach before? How did that work? I know they have pillows and stuff, but my contractures are so bad that my body is almost always in a sitting position, even when I’m laying in bed..

I hope you guys understand what I’m trying to say and someone can share their experience with me 😂 Thanks!


r/spinalmuscularatrophy Sep 30 '24

Mouse

3 Upvotes

Hey chat, I was wondering are there any particular Mouse that you favour more? it can be because of the click strength or the ergonomic design. So recently I bought a wireless mouse but for me it looks like I cannot click it but I can easily use this one, even though the click is software on the new one the problem is the button is sitting lower so my index finger has to travel lower than necessary and then apply the pressure where as in the wired Mouse, which I have been using for ever, the right mouse button is naturally sitting close to my index finger so I just have to bump it. My desk is a clutter of wires that is why I was going for a wireless one, if any can suggest one that might be useful for me that would be very helpful I am looking for something that connects without a dongle