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.

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.

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

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

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?

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 ?

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?

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

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'

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!

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!

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

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?

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

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!

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

Hi, my niece lives in India and have already received zolgensma on janaury 2024 shen she was 19 months. We are planning to start her on Risdiplam and recently learnt that it is very cheap in China. Has any one try buying it from China? What is the process involved?

Also how successful is it likely to be? Any research to show success rate for sma type 1 or what factor affects success?

Have a relative in Turkey who has just had a son diagnosed they will give the infusion but no gene therapy. They are looking to raise money ASAP for the treatment

Medical Equipment Fund for individuals with SMA

Taking applications until November 1st.

https://www.idiscy.foundation/equipment

Hello everyone I am 33m and have SMA type 2, I was wondering if there is any vitamin supplement that I should be taking? I read somewhere in this thred that the nutritional absorption in sma patients are comparatively low.I am from South East Asia so my diet primerly consist of rice and wheat and very little proteins. I do not get much exercise, well practically none. My doctors have not prescribed anything special except Vitamin B complex ,which was prescribed because I am diabetic and is taking metformin. frankly the awareness about the disease is pretty much low in my region. I have restarted to take carnitor because it was suggested by a doctor when I was diagnosed(at 2 years old)

I have this friend who has SMA Type 2. He is 18 and is about 5'01''. He plays with me that he doesn't mind being short since he won't be standing up anyways, lol. But this always went through my mind, will he grow more or his condition affects his height?

Hi all, 
Hope your week has started off good!

I hope that you're able to support me in my project. I am developing a specialised weekly newsletter focused on Spinal Muscular Atrophy, 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

If anyone would like me to send them the draft newsletter to fact check everything, it would be much appreciated. Thank you all so much, and stay strong!

Enjoy the rest of the week

My mother is 61 and has had issues with her muscles and spine for years. I just had a baby girl and when I did my genetic testing (I’m in California and apparently this is standard) I came back as a carrier for SMA. We gave these test results to her neurologist who referred her to a neuromuscular surgeon and they confirmed she had SMA. The last 4-5 years she has severely deteriorated. She’s always been able to walk and live like a “normal” person- not able to run since her 30s ~ but other than that a pretty regular life. In the last 4 years she has had so many tests so many MRIs etc etc … no one able to diagnose. Thanks to my test, they did the same blood test on her and were able to confirm. That’s the backstory…

Finally started Evrysdi and it nearly put her in the hospital with all the side effects so she stopped it.

Fast forward 9-10 months and she just started spinraza. Currently has had 3 doses and the third one coming up. No improvement whatsoever. Has just experienced pain and headaches after treatment. Anyone had a similar experience or have any additional feedback on taking spinraza? Shes also been trying to continue her physical therapy but has been in a lot of pain and getting really discouraged. Thank you for reading and anything you respond will be helpful

Hello! Does anyone have experience switching from negative pressure like a portalung/iron lung like machine to using a bi-pap with full face mask? What was your experience like? What did it feel like? How long has it taken for you to adjust? Any other feedback would be great!

I do not have SMA but I work for a woman who does

I have this friend who has SMA Type II. He is 18, weighs about 54lbs and is 5’ 01’’ tall. He has scoliosis but did a surgery to keep his back from curving more and got a little more straight. We going to a trip and he really wants to go on a rollercoaster in universal studios and I will feel bad if i go and he doesn’t. He takes medicine orally everyday to treat his condition, I think its called ridisplam.

Hi, I was wondering if anyone experience weakening of the eyes, ie both eye saccades and when focusing? I did som googeling and did not find any connection between weak eye muscles and sma, but why wouldnt sma possible also effects the eye muscles?

Hello, I am a 25 year old with SMA type 2 and had a power chair given to me two years ago by NUMOTION and it broke two days ago and its Labor Day weekend. How long am I gonna have to wait for the repairs? How long does it usually take on holidays