I have stopped taking Evrydsi because of this and I hope to return to Spinraza. When I was on Spinraza I was excelling a lot but insurance stopped paying for since Evrysdi is cheaper. I was on it for three months and I start to have extreme bladder issues. I will have the urge to pee and if I don’t go right away I pee myself. This is beyond embarrassing and only started after Evrysdi. Now it’s been almost 2 years since I stopped taking Evrysdi and I still have the ongoing issue. Anyone else have similar issues?

How many of you looked up genetic info on your sma, then on other conditions in your family, and then discovered many things were linked?

I checked for IBS, GERD, breast cancer, cervical cancer, colon cancer, leukemia, medulloblastoma, cmt, heart valve problems, and an MS like condition.

I also looked up fibromyalgia, degenerative disc disease, bursitis, reynauds, and sjogrens.

I'd already read that some types of sma have hypotonia, language problems(articulation), pectus excavatum, and meckles diverticulitis/band. I didn't check if tall stature was linked. My sons 6ft5 and my uncle was 6ft3.

My son fits many things but he's not talking to me. I don't have his father's current contact info.

My uncles, grandpa's, and my dad all had heart valve problems. My dad, his sister and my brother all died of colon cancer. The doctors in 2002 said my daughters cancer wasn't genetic but now medulloblastoma shows as chromosome 5. My aunt died of breast cancer. My sister survived cervical. My cousin died of leukemia. One cousin has cmt her sister has a disorder that mimics ms. One uncle and one of his sons have sma. I have ibs and Gerd but my sister has chrones. Some of my cousins have some symptoms of sma and their sister had a genetic condition diagnosed in 5he 1970s.

Most my family is now dead. My sisters alive and a few cousins but we arent in contact. One cousin was on ancestry website but didn't want to hear about the genetic link in my brother's and dad's colon cancers. That cousins mother died of colon cancer. She said it was just a coincidence. That maybe my brother died after chemical exposure in the plastics industry. But he told me before he died it was genetic and he was tested.

Anyone else have family in denial? And/or are alone as they've died off from these awful things?

Hello SMA community.

I have created a gofundme page for help with getting a new vehicle. As some of you may know, in California there are no grants for vehicles. The assistance available are for modifications and car lifts. My current 2011 Honda CR-V is too low for me to get in and out. This past week twice I was stuck in my car and needed passerby and a neighbor to help pull me out. [I'm scared I'm losing my strength] Any help would mean the world to me.

​

Thank you

I use a Rii Mini Keyboard and a Logitech Marble Trackball. They break really often and I have to buy new ones every year or two. AND at least the mouse is discontinued. I've tried other trackball mice and they don't work for me, they hurt my wrist. I have no idea what other options for this I have, help pls

I am in some desperate need of help, I have spinal muscular atrophy type 2 and I turned 21 in July 2023 tracheotomy and I have a g-tube. I live in Tennessee, I had 24/7 home health nursing because of my trach and feeding tube. When I turned 21 the state took away my nursing all because I turned 21, there was nothing to do to stop it. Well, the state would not let me stay home even if I had 76 hours a week vs the 168 hours, because my parents can’t physically take care of me so we don’t have a backup plan and you have to have one to have nursing. But the state knew for years we didn’t have a back up plan. So December 1st of 2023 I got moved into a medical ventilator group home, there’s 5 of us total with around the clock care. Now mind you, the other 4 can’t do anything, 2 are braindead basically, 1 is a quad in their late 40s with their trach cuff inflated so they can’t talk and the last one is 58 and has padgets disease and makes me really uncomfortable. We all have our own rooms thankfully, but in the last 4 months I have severely declined in my mental health and I am allowed to leave here at any time i just don’t know what to do or where to go. I’m not on the vent 24/7 I only use it when I go to bed at night and my primary use for my trach is for suctioning anyway. My g-tube I only use for meds and for feedings when I’m sick. I just don’t know what to do anymore.. please if anybody has anything please help.

I have an Phillips Respironics Evo Trilogy and the screen and power work and I can hit settings but it won’t start ventilating it just doesn’t do anything. Won’t turn off. Won’t start. I’ve unplugged it and took the battery out. How do I force a shut down? It’s like it’s frozen?? I just wanna sleep

That's it .thats the question

I'm on gabapentin. In past I was on tryptophan for sleep and stopped it. I saw an article that creatine might be useful but can bother kidneys. I stopped naproxen a year and half ago as I was told it caused me bad kidney test results.

I take gabapentin only at sleep as needed and only 300mg. I was once on 1800mg. I looked things up and see gabapentin is used for several things including sma. I can't remember how I was on the higher dose. At the time I was on it both my father and daughter both had cancer and later died of it.

If your on gabapentin what dosage range are you and how much did it help? My doctor offered to put me on a daytime dose but didn't realize it was useful for sma. Now I'm reconsidering as walking is getting harder as is standing. I'm also wondering if it would help my swallowing problems.

Tryptophan I saw mixed reviews on. One thing said it can cause spasims. Another said its useful for sma but didn't say anything more.

I've had kidney stones in past but more than 10 yrs ago. Though I stopped naproxen over its effect on kidneys. How safe is creatine and is it very useful? I also see the doctor tests my levels of it but so far it seems OK.

Anyone else get high hemocrit? Mine is just above normal though ecg(?) Of my heart shows fine. I also had my gallbladder removed when my daughter was dying. I've now got fatty liver. Sometimes my lipid results show my good cholesterol a little high and my bad a little low.

Despite sites saying sma are usually thinner I'm heavy. Diets don't seem to change that. I think menopause might of affected it though. I've tried vegan, vegetarian, calorie counting, and food pyramid diets.

My family member decided six months ago to start Evrysdi. Her doctor sent the prescription to Accredo. Our medical insurance (not prescription coverage) approved the medications. We would only have to pay our normal deductible then it would be covered 100%. Over the past six months, we have contacted Accredo dozens of times. They are refusing to bill our medical insurance and state a different reason for this every time. They have admitted that they bill medical insurance directly but will not for us. The only option they gave us is to pay $27,000 and hope for a reimbursement from our insurance.

Has anyone else had this issue?

Do they consider it for type 4? Anyone from British Columbia taking it? I just saw it was covered by pharmacare on case by case. But under that table the drug was on at a ministry page. It had weight restrictions. Wondering if this applies to adults or only kids as I'd be over the weight restriction.

Anyone been to the MD group in BC? I heard it also covers SMA. What did you think of it. What activities, etc is there for walkers?

Off and on I choke on water, my own saliva, or food. Is there anything that can be done and how bad does it get as you age? I'm in my 50s.

Anyone else get high hemocrit? I heard it's a risk factor for heart trouble. So far my heart test showed ok in past.

Also any way to stop hunching? My grandma was a hunchback. I think she might of had sma. I just noticed my shoulders are starting to look like hunching a bit.

Anyone else on gabapentin? I sometimes take it so I can sleep because of pain. I take otc pain med with it and sometimes wear analgesic patches for my arthritis, sciatica, and degenerative disk disease.

There are spaces still available for patients or caregivers to join the M3 German Tube-fed Patient Community Panel

The objective of this study is to better understand the daily life of tube-fed patients in Germany, such as their routine, attitudes, and challenges. We have been working with others in the German feeding tube community such as Bastian from lebenmitPEG.de and Laura from projektlebenaktiv.com. You can also check out our latest blog collaboration on our website here: https://m3globalresearch.blog/patient-experience/

If you live in Germany, and have experience either using a feeding tube or caring for someone who lives with a feeding tube, you can also participate in the first survey here: http://m3gr.io/XXBEYI

The initial study is a 5-minute online survey with an incentive in the amount of € 30.

After qualifying for and completing this initial online survey, each month panel members can expect to receive invites to additional paid opportunities to continue to voice their opinion on treatment options and the impact of feeding tubes on their quality of life.

Share your experience to influence future available options!

I'm a 23-year-old with SMA Type 2. For my whole life I've been using a normal seat, just some cushions on my wheelchair seat. Last year, I got a new seat prescribed by a doctor. It's one of those fancy moldable seats that takes your shape. However, it works like a posture correction seat, so it greatly reduces the mobility of my arms. It's more comfortable than my older seat, but typing and using my computer in general is extremely hard now. Which sucks since this is the only place where I can do stuff. My doctor told me that there isn't a mixed solution, I have to pick either mobility or comfortability. Anyone else has a similar problem or any advice for this?

I have type 2 Spinal Muscular Atrophy and work full time as a software engineer. The current income limit for Medicaid is about $2,829 a month. This is calculated using gross income instead of net income. Since my gross income is higher than the limit Medicaid has put me into what's called a spenddown program where they have me pay for a portion of my services (in home caregivers). They are saying I have to pay $1,815 a month, which is a third of the combined net income for my wife and I. Because we can not pay that amount with the rest of our bills, I will be losing my caregivers unless the rules are changed. We have created a petition to get the word out there, and try to get things changed so that others on Medicaid are not penalized for entering the workforce. Please sign our petition if you would like to help. https://chng.it/HbpvVptdZc

Hey there, 24 year old female Type 2 here and I have a couple of questions for anyone else taking Spinraza, or anyone who is on any treatment for SMA:

Has anyone who never walked independently outside of a pool started to feel the sudden urgent need to complete the standing up action independently?

I have been on Spinraza for coming on 6 years, Dose 20 in 2 months. In all my 24 trips around the sun, the need or want to stand was never there. I wanted to be able to look like all the able bodied people out there with their two stilts waddling along, sure. I wanted to be able to twirl in a long fancy dress when I got one, absolutely. But the simple act of lifting my patooty off my wheelchair’s seat and stacking myself onto myself like a jenga tower was never something I could even mentally comprehend.

Trying to figure out where my butt muscles are to lift my leg by the hip was so frustrating it used to dissolve me to tears, now it feels like I’m being held down by invisible strings and my brain is saying, “come on, get up! You can do it!” Then my body responds with a vacant stare before screaming like a banshee while making random muscles twitch and stab.

Anyway, please if anyone else feels anything remotely similar, it would be greatly appreciated if you comment your experience or message me directly.

Thanks to everyone in advance,

Dez RebelWheels

Hello everyone. My name is John and I'm 32 years old. I have Spinal Muscular Atrophy Type Two and I recently created a website which focuses on my personal health care routine. Please feel free to take a look and bookmark it as I expect to add new content and update it somewhat regularly.

Feel free to reach out with any questions.

https://jmontuori91.wixsite.com/jjmontuori

Just wondering. I don't let it consume my life but I like to keep an eye on things. It's an exciting time to be alive. I'm cautiously optimistic about all the trials surrounding Myostatin. Especially as a few should be completed in the next 3-5 years!

Just wondered if you do or don't follow it. Whether that be because you don't want to think about things that might not even help, too busy with life etcetc.

Doctor saw me then labeled me fibromyalgia. They ran tests then added polymyosistis. Different doctor ran more tests and said sma.

As a child I got dx sciatica, degenerative disk disease, s curve scoliosis, hyperacussis, tinnitus, auditory processing disorder, arthritis, and allergies. I also was diagnosed back then with anxiety disorder, hyperactive, chronic insomnia, deviated septum, and seasonal affective disorder. As an adult my diagnosis is aspergers.

I was severely beaten at 8 by a coach that was high and on steroids. It caused my s curve scoliosis, degenerative disk disease, sciatica, visual floaters, chronic insomnia, and visual snow. I needed eye transplants as I went blind. I had a tbi and sci. I see now but wear distance and reading glasses.

I also have carpel tunnel, bursitis, ibs, Gerd, bone burs(hands/feet/back), chronic pain syndrome, post traumatic disorder, and latest added to diagnosis is diverticulitis, menopause, and sleep psychosis. I was having heart attack like symptoms that woke me up. But I was told it was probably menopause. It went away.

I take generic serequel at night. One 25mg and one 200mg. I take gabapentin as needed one 300mg at night.

I was on naproxen for over 20yrs then stopped for my kidneys.

I take glucosamine but it doesn't seem to do anything. I also take an over 50s vitamin and biotin gummy.

When in my 20s I started using a cane. Around 50 I got my walker. I try to walk unaided though. I can only do a 10 to 15min walk otherwise need a walker. Usually 20 to 25min with a walker and I'm near tears from pain etc. I used to do aquafit but now you have to register ahead which I'm not sure of due to all my health problems.

My sleep problems started in college. I woke 5am and slept at 1:30am. Later I moved then the neighbor was noisy. Last 2 years though mice have been really bad and keep waking me. So I went on sleep med. After sleeping better for a few months the sleep psychosis seemed to stop. Sleeping much better and more sane in the day so afraid to come off the sleep meds.

My oldest child died of cancer. My youngest moved with his dad at 15 and at 19 he stopped talking and visiting. He was dx hypotonia, poor fine motor skills, expressive receptive language disorder, adhd with autistic features, pectus excavatum, meckles diverticulitis, meckles band, eczema, and low iq(69-80). I suspect the hypotonia might of been sma. He was genetics tested for fragile x and was negative. They also felt he didn't meet criteria for marfans syndrome.

Several of my family have died from cancers. My aun5 from breast and she had fibromyalgia. My m9m from brain and old age. My cousin of leukemia. My dad, brother, and aunt from all different colon cancers.

I also had one cousin with MS. My sister has chrones and illitus.

My daughter was typical before cancer. She died when she was 12. My son at birth was suspected disabled. He was bigger and had a big head. He had foceps marks for 3 months. He also had pectus excavatum that was severe at birth and moderate when older and s9mething looked wrong with his bellybutton.

I didn't seek out an sma test. The doctor did it. I haven't seen that doctor in over a decade. My last doctor didn't pass all my old diagnostics to my new doctor. So they have to take my word for things or run new tests. So far they have somewhat taken my word for it. But the sleep psychosis m8ght give them doubts. But I was fine before that.

I'm on disability but sma was added to my diagnosis after I had already sent things in. Doctors say they can't do much for me. Though at 15 offered me sciatic nerve surgery and in my early 30s they suggested I might later need hip surgery.

I tried college but it was severe damage to my sleep and flared other health stuff. While my classes were A and C+ one class was a D. They all had to be c+ and higher to pass. So I quit school.

Now I just live alone. Have a fairly quiet life. I go to housing complex coffee twice a week. With a friend I go to the legion once a week. I get asked how I am. Like most I say I'm fine. Somedays I'm not.

Has anyone had any luck finding legitimate work from home jobs? I’ve tried connecting with job and family services and after six months they never found me anything as far as work. I just want to make money and pay down my debt but it’s hard when I literally make below the poverty line a whole year on social security.

Looking for other Type 0 parents, I have a 5 year old type 0 and after he was born I was active in Facebook groups and knew about a few other type 0 but unfortunately the ones I knew had all passed the last time I checked in a few years ago, and I haven’t been back on FB since. Last I knew my boy was the only one, so I’m curious.

My daughter Kensington is now two months old. She's having breathing issues and hypotonia. I'm a carrier of SMA my husband is not. The genetic counselor told me they did a test on her and there was a gene deletion and it was inconclusive...I know that if I'm a carrier and my husband is not there's no change my daughter could have it. Any advice would help

Inspired by other guys post about their jaw. It made me remember I'd been struggling a lot lately too. Except I'm extremely panicked I may never be able to open it again some day. Currently it sits just above my teeth and when I get tired it starts to shut more and my teeth really hurt because they're the only thing keeping it open really. Then on even worse days my jaw suddenly tries to shut so much that my tongue can't even move anymore and I usually end up drooling all over myself. Extremely embarrassing. There's not much build up, I can recognise it's because I'm tired but I don't notice it gradually shut more and more throughout the day. Otherwise I'd try to reign back the things I'm doing before breaking point.

As you can imagine I'm very weak. I have a trach, vent 24/7, peg the whole lot. I don't know what to do about this. I'm extremely concerned. I don't know if any stretches even exist for someone as weak as me. Maybe I should talk to my physio. I feel weak but I don't think that's all of it. There's a tightness that wasn't there even 6 months ago. I don't know maybe it's copium. Would even just having someone stretch my jaw for 20 minutes a day help?

Repost from the SMA discord.

I'm 17 and never been on any treatments. I just wanted to see if it was worth going for Evrysdi. Everyone my age appears to be on it and I'm in the UK so shouldn't have much trouble with price.

I'm vented 24/7 and very weak. May as well be paralyzed from the neck down (but not quite that bad, still have enough wrist movement to control wheelchair). Recently I've been struggling a lot with my swallow and speech.

My expectations for the drug are at 0 but even if it can stop the SMA's progression I'd be happy and if it could help with swallowing I'd be on cloud nine.

Is it worth trying?

Hello All,. My daughter is 1 years old. Ever since her second month , I noticed her breathing hard after feeding and taking breaths every swallow. She is my second child The doctors we spoke to told that small babies will have small nostrils and to feed her without distractions . She is able to sit for little time on her own now for only few minutes but keeps having to change position. She is also having feeding difficulties. She is only able to take in puréed food. She is also having to take effort to do anything be it feeding , moving . Since the start of 4th month , she was continually having cold which later developed to bronchitis and was even admitted to hospital. Doctors suggested to use inhalers to ensure cold doesn’t worsen. She was also having colic in her early months . We have seen multiple doctors and are not sure what is the cause . Doctors initially said that since her weight gain was fine there is nothing wrong. Once her weight gain stagnated , they don’t advise on what we can do to help her or what can be the reason . We are planning to see Gastroenterologist again based on pediatrician suggestion. We had earlier gone on her fifth month but they didn’t listen to symptoms and just confirmed with weight. Everyday I am worried on how to make it comfortable for her. I personally feel she has breathing issue or doesn’t feel comfortable when lying down and tries to lift herself up when lying down. No one suggested SMA but seeing the symptoms and the breathing issues make me suspect it is not simple reflux.

If anyone can suggest whom to refer , or what can be done, please do let us know .

Edit - hello all , Update to the post We have seen a neurologist and a Gastroenterologist. Per neuro’s opinion , we took certain blood tests. The initial tests showed high potassium . The results were normal when it was taken just 2 months back. So we are planning to see kidney specialist next to analyze the root cause. I feel we have seen all the major organ specialist to find out what’s wrong. it’s not fair that she has to suffer and we still can’t figure out what’s wrong .I feel helpless to see her getting poked and prodded. It’s pretty terrifying to find out what’s wrong and to not know what’s wrong seems just as scary. I just hope and pray that whatever it is we can treat her. Thanks all for listening. I just can’t talk about it at home without breaking down.

Hello! My name is Tristan, I am the Founder/Executive Director of the IDISCY Foundation. We are a 501(c)(3) charity providing equitable resources for individuals living with Muscular Dystrophy and related diseases (including SMA) . We recently launched the IDISCY Medical Equipment Fund, providing $2,000/year of medical equipment. We begin accepting applications for items on June 15.

We also have the IDISCY Scholarship Fund, which is an annual scholarship of $5,250.

Hi,

does anybody else experience cold legs and feet, and it does not really help with warmer clothing or blankets. Is it bad circulation perhaps? Or anyone else with SMA (3) having the same problem?

Bastian Krosche is a German journalist who lives with a PEG. His story highlights the profound impact of this medical intervention.

His path and efforts to raise awareness about PEG and his advocacy work in building community support showcase the strength and adaptability of individuals navigating life with feeding tubes.

Read about Bastian’s personal experience below, where he writes about what it is like to live with a feeding tube due to spinal muscular atrophy.

https://m3globalresearch.blog/2024/02/08/living-with-feeding-tube-peg/

#FeedingTube #FeedingTubeAwareness #FTAW2024 #PatientExperience #CaregiverExperience #YourOpinionMatters #ShareYourStory #Healthcare #MarketResearch #PaidSurveys #Gesundheit #Ernährung #Ernährungssonde #Patientenerfahrung #Patientenerfahrungen

I have SMA type 2. I'm really really on the weak side of the spectrum. Lost the ability to support my own head around 7 and the ability to lift my arms at the same time. I'm also overweight which does not help lol.

People will say I'm lucky because I don't have to work but honestly it doesn't feel that way. I feel trapped. All my benefits including Universal Credit I will receive when I turn 18 won't even add up to minimum wage. I'll get less than 800 a month. It's honestly soul destroying. I'm still pretty young and will be going to UK college because honestly I've got nothing else to do.

I've singled out 3 sort of job sectors if you will that I feel I could work in and would be physically able to do. Something in writing, editing and proofreading for example, video editing or computer science. All these require a computer to do and that's what I'm using now. I don't know who would hire me but I absolutely can work with eyegaze assistive technology.

I just feel incredibly hopeless and don't know what to do if I can't work. I'm so lonely. I speak to nobody except my 2:1 carers (do jobs even let you have 2:1 carers). I have aspirations to go to university which is going to be pretty difficult on UC I imagine. I just want to live a life where I am happy, motivated and accomplish my goals. Currently I'm just surviving.

I'm not really sure where else to go with this. My doctors are not doing anything about it and just trying to shut me up so I wanted a second opinion before I go back to them. I'm a very weak type 2. I have a tracheostomy, gastronomy, ventilator and I can no longer move my arms or support my head.

I've had nasal secretions since I was a kid. It was just normal and nobody seemed too bothered because you could just wipe and it'd be gone. Fast forward to now, I can't wake up without a load of snot over my face. If I don't it's usually because a nurse stands over my bed all night and makes sure to get rid of it. Which just keeps me awake. It's also affecting my speech. As I type this I can feel a load in the back of my throat..

I don't know if this is just something I have to get used to. I'll be honest I'm struggling to come to terms with it. I can handle the night stuff, just not the speech going! I thought about a cough assist but from what I gather that only helps lower airway?