Was there some reason my previous response to this was deleted? That’s some pretty shady moderation.

The correlation is definitely not 100%, for instance I have 3 copies and am a definite type 3 and many of the type 2s here also have 3. In that terrible IQ study that was posted here a bit ago, there was a type 1 that I think had 6 copies.

But the amount of copies does make a clear difference in some respects: During the early Spinraza… Read more

So Halsey’s article today made me wonder if I was misunderstanding SMA and SMN1 and 2 with this passage: “but there’s another piece of information in my chart from my original diagnostic blood test in 1999 that further explains why they find my case to be particularly intriguing: I have zero copies of the survivor motor neuron 1 (SMN1)… Read more

There’s the famous Craig T. Nelson (the actor from Coach/Parenthood) quote that applies here to how people think of independence differently: “I’ve been on foodstamps and welfare, did anyone help me out? No.”

I think of independence sort of more along the lines of what defines disability: can I do basic life functions without someone else’s… Read more

I’ve mentioned it before, but as a type 3, I’ve never had to deal with many of the issues that type 2s do and it took me a while to figure out that’s why I’d get weird questions from doctors. I’ve had to push back against some doctors wanting to do tests and things on me that were completely unnecessary. I had a new doctor a few years ago… Read more

There have been a few people who’ve competed in both the Paralympics and Olympics. Of course the most famous one is also a murderer so that’s not great.

But Olympians aren’t like most people anyway so I’m not sure why you’d expect any sort of equal representation.

I actually have a big tub of it that’s been sitting on my counter for years now. I didn’t stick with it long enough to see it did anything though because I don’t like making the shakes. Looking it up now I see there are pill versions so maybe I can try that because I tend to be a lot better taking those.

The other thing I tried a long time… Read more

“Without SMA, I would not have learned how to sit entirely still and look at a single painting in a gallery for half an hour. I would not understand how interdependent humans are and how much value dependence and community bring to my life. I would not have the empathy that I do for other marginalized groups – for people of color (who are also… Read more

The idea that something would be lost by eradicating a disease seems a bit strange. Do people who have had covid look sadly at those that haven’t had it yet and wonder how those people cope with not having to live through it?

Are there people that are like: it sucks that polio was eradicated because “living with (polio) helped teach and… Read more

I actually like this time of year because nobody expects me to go anywhere so I can plan to learn new things without having to worry about appointments or going out. Of course I end up being lazy and never completing anything, but at least I know that’s my own fault rather than not having time to do it because I had to do other stuff.

I… Read more

Ok and now WTF with the IQ study? They threw out the results of the guy that scored in the 140s but left in the guy that scored in the 60s. Someone with IQ scores in the 60s has something else significant going on with them that’s not SMA.

I searched all over for waterfall armrests for a Permobil chair and couldn’t find any. Do you know who makes the ones you got?

I’m sorry about the armrests. I’ve not used the new chair I got 2 years ago because of the armrests. I was hoping once you got your better ones I could show my rep what to get, but guess that’s not happening. I don’t understand how Permobil doesn’t have normal padded armrests available. Everything else on the chair has 5000 options that… Read more

I’m hoping something was lost in summarizing the study in the most recent article on the front page because the way it’s written is silly:

“Results showed that, all else being equal, patients were 4.8 times more likely to choose a treatment that stabilized motor ability and 8.1 times more likely to pick one that improved motor function,… Read more

I’d temper any excitement as an adult. The trials weren’t too promising for us. Most of the good results came from children under 5. In the 5-21 group, a third had no benefit and only another third had a real positive effect. And it’s possible many of the good results in that group were on the younger end of the range.

The one thing I worry about with the way she talks about Evrysdi is that it seems like she thinks it might be a miracle cure that’ll stop many of her current problems. But Evrysdi and Spinraza don’t work well or at all for a number of patients and I think it’s especially true for people with very severe SMA.

Also, as shown in the Spinraza… Read more

Sigh, I guess the Ezlo thing isn’t great either (they don’t have great software). I should research before typing. There are still other brands, Hubitat seems to be pretty decent, but I’d just suggest searching for hubs that don’t need the internet and read all kinds of different reviews.

Well after writing that, I started looking more at SmartThings and apparently Samsung no longer makes the hub for it. It did find a brand of hub called Ezlo that can run completely offline and has a battery backup, but it is somewhat expensive (>$200). If you’re extremely reliant on home automation that might be a good thing to check out.… Read more

Maybe a dumb thing, but you seem to be using WiFi and internet interchangeably, but they’re two separate things.  Your internet could be fine, but WiFi is failing and vice versa. Your WiFi can work even if you don’t have internet, like I can disconnect the cable on my modem and can still control my lights with the app on my phone since I have… Read more

It’s funny you guys see no need for a neurologist. I’m exactly the opposite. My main doctors over the years have only been neurologists. I only got a pPCP because Medicare wants it and I also needed a local person to sign paperwork. My PCP has no clue what SMA even is and lets me tell him whatever I need. I also have no other issues than SMA so… Read more

I know Spinraza works for me, so it would absolutely suck if I had to stop treatment. But reading the paper it’s absolutely clear that Biogen was full of shit when they claimed the price was necessary because of the cost savings it would provide the healthcare system. Patients that aren’t on Spinraza don’t reach $375,ooo a year in medical costs… Read more

In the full paper they also tracked how many stopped Spinraza altogether and most of the non-adherent patients fell into this group. Very few who were non-adherent continued treatment so that wouldn’t change the numbers much.

There’s the new article on the front page about Spinraza adherence. There’s an interesting part at the end. It talks about the medical costs between patients who stayed on Spinraza versus those who stopped. Here’s the relevant bit: “Non-adherent patients with SMA type 2 had a mean cost of $146,830 PPPY, compared with $51,937 for those who… Read more

Yep it does. It looks like that’s a feature that’s built into Android 12 (new OS version they just released about a month ago).

Not sure what smart lights you’re using, but for some you can buy switches that you can stick to the wall. They’re like little remotes. Here’s the Hue version: https://www.philips-hue.com/en-us/p/hue-dimmer-switch–latest-model-/046677562779

Of course that’s more expense, but if it saves a little hassle for everybody it might be a… Read more

I looked through the manual and you have to do it with the programmer which means you need a dongle or keycode. The manual says which you need is set by the factory, but I’m guessing it’s the dongle.

This is one of those things hopefully “right to repair” laws will fix. There’s no reason we should be locked out of settings like this. There are… Read more

Ah okay.

A somewhat related video I’d be curious to see is if you can tear a couple of sheets of toilet paper off the roll without yanking half the roll off. Like if you were out somewhere and needed a tissue, but that was your only option. I’ve pulled about 20 sheets out too many times at public bathrooms when the toilet paper is in a funny… Read more

I’m not familiar with all the angles the arm can move at, but for the 2nd box could you instead come at it more from the front rather than the top and use one of the fingers to drag the top tissue out the front and then catch it with the other fingers? Not sure if I can describe what I’m picturing that well, but the top finger that’s getting… Read more

I have a pixel 3a xl from a few years ago that has all the current software updates. I haven’t enabled any specific accessibility features, but if you want me to check if it can do something I can. I did download a Voice Access app, but haven’t needed it since the regular assistant has worked well enough for what I’ve needed.

That’s one thing that’ll blur the lines between types even more. Children that are getting treatments are reaching milestones they never would have and the typical type 1 or 2 progression doesn’t exist for them any more.

I’m pretty close to a textbook type 3. I only started having very slight symptoms when I was about 6 or 7 and I walked unassisted until I went to college at 18. I haven’t had any real issues as an adult with insurance because of being type 3. I’ve just had the usual stuff where they tried to deny Spinraza because of age and my wheelchair… Read more

One thing to remember: airports and airlines aren’t the same thing. Airports are usually owned and run by the local governments, airlines are private companies trying to squeeze every bit of profit out of everything and that’s where the problems we have lie.

This isn’t work related, but I always get comments when people come over to my place saying how messy it is because I tend to not put anything away in drawers or closets. I have all my clothes sitting out on my couch and all my papers on my desk. Putting stuff away means a lot more effort on my part if I need to get anything so it’s just not… Read more

I get nerve pain about 3 or 4 days after every injection, like my legs start hurting a lot and I could barely sleep. I used to let it go away on its own and that would take weeks, but now as soon as I feel it starting I take some tylenol for a day or so and it goes away completely. It’s surprising how well it works to fix that, like I take… Read more

How do you do your taxes? I do mine online and they save all my returns for the last 5 years there.

Also, do you mean SSDI or SSI? They have different income requirements, with SSDI allowing higher outside income. This is what I could find for the current numbers: “To qualify for SSDI, you must earn less than $1,170 per month. To qualify for… Read more

I’m sorry, but “SMA Pride” is ridiculous. It makes it sound like you’re celebrating a disease that kills hundreds to thousands of children a year and severely disables many more. Reading recent articles there seems to be some trend to try to normalize SMA as a benefit (“it makes me unique!”) while ignoring all the people it has killed and… Read more

A little note, I think there’s a typo in the quote at the end? ““I see disabled people every day thinking of ideas disabled people never would have”.

Luckily(?), I’m not much of a family person so I don’t mind missing stuff, but I’ve told my family “if I show up I show up” but to never count on me being at an event because I’ve had enough times where something or other broke and there was no easy way for me to get somewhere.

As far as vans go, I just got a new one 2 years ago and the… Read more

Mike, I got the device you linked. At least for me it was pointless because you still have to get the sock around the plastic which is bigger than my foot and I couldn’t even come close to getting it on that thing. I tried another device too which had the same issue: if I can’t get it over my foot how am I supposed to get it over something… Read more

Would you have to redo the loading doses for Spinraza since you’ve been off it a while? That might make the decision for you.

I see a good and bad reason for it.

When I was younger and could still walk a little I never really associated myself with wheelchair users. I didn’t even use a wheelchair, I used a scooter. So services like this that seemed geared directly toward wheelchair users I wouldn’t look into because I didn’t think they applied to me even though I… Read more

DeAnn, didn’t you have covid already too? Reinfections still seem surprisingly rare, so between that and being vaccinated I’d say you don’t have a lot to really worry about. But it’s really up to how comfortable you feel. As the others have said, in this case, get a mask that protects you rather than a standard mask that’s more for protecting others.

Thank you for putting up links to whenever they’ve offered these packages. One of the items from an earlier package helped save me from a bad situation a couple weeks ago: I fell off my chair when transferring from my bed and I had my tv on and my phone wouldn’t recognize my voice over the tv (I live alone), but the Amazon Echo device I got… Read more

I try to name them by the room or the main thing they’re next to. I only have lights set up so I’ve got “computer lamp” “bed lamp” “living room lamp”. I’ve got some others next to my bed I never use and shouldn’t have bought, so they’re named “stupid lamps”.

I’m reading the Mike Nichols biography. You can live vicariously through me while I live vicariously through him. It’s a good book, but almost tiring how many famous people he was always around.

And then it’s even more frustrating when someone finally does come to help and I try to explain what I want done. I’ll tell them “just tighten that screw right there”, and they’ll look at me and then go outside and take a tire off my van. And I’m like wtf that wasn’t even close to what I said to do.

I run into the issue with family where I get told: “Call me if you need anything!” I ask them for help with something. “I’m working, can I come some other day?” I say okay and never hear from them again. The thing I wanted help with breaks and I need it fixed immediately so I ask again. “Why didn’t you ask for help earlier?”… Read more

DeAnn, did you ever get new armrests? I stopped even trying to use my new chair because the ones I have are so uncomfortable.

I’m going to my doctor in a couple weeks and will probably discuss Evrysdi. I’ve been on Spinraza for about 3 years and it still works pretty well, but I feel like the end of cycle slump is getting worse.

I know some here have been on Evrysdi for a little while now and any thoughts on how it’s going (especially if you switched from Spinraza)?

Thanks!

Unless you take it regularly for something else, it’s not recommended to take Tylenol or aspirin before the shot.