[mike-huddleston]

Interesting question. It may be overuse as both you and Jeff suggest, or it could be that you’ve had a higher rate of loss with the motor neurons on the now weaker side. Or a combination. It’s odd that we all have some similarities and some differences in how SMA progresses. Our Venn diagrams are quite different between different sets of patients. The old YAMMV applies.

For me, I’m right side dominant and was an ambulatory Type 3 until about 10 years ago. My right side has always been stronger than my left side. And to this day, major muscles like my right thigh and hamstring, as well as my right bicep and triceps, are larger and stronger than my left ones. So, make of that what you will. 🙂

You also mention the myostatin inhibitors that should be approved later this year by the FDA. That will obviously be more effective in the muscles with more and still viable motor neurons, so this is very exciting. I’ve mentioned it previously in comments, but the big game changer will be when we can get motor neurons to either be newly generated or regenerated. This is critical since currently we are born with the number of motor neurons we will have for our lives and until that changes, all treatments, amazing as they are, have limited effectiveness due to this motor neuron loss. I’ve read there is work on anthrobots in labs that has shown possibilities and have also had recent discussions about peptides improving nerve function.

These are indeed very exciting times and I continue to be thankful that there are hundreds, if not thousands, of people working on our and other conditions that will improve our lives. Progress is happening and as Andy Dufresne says in The Shawshank Redemption, “Hope is a good thing, maybe the best of things”.

[mike-huddleston]

Hey Alyssa –

Always good to get info and keep your options open. I was in the first group of 5 adults in Maryland that started Spinraza back in mid-2018. I made the switch to Evrysdi last September, so about 6 years on Spinraza and a total of 22 injections, the first 13 of which were lumber and the last 9 were c-spine.

I have tolerated the switch to Evrysdi well and decided to do so after nearly a year of consideration and consultation with my neurologist at Hopkins, Dr. Charlotte Sumner. The reason for switching to the c-spine location was due to an ongoing weakness and drop in my RULM score in my right shoulder and upper arm (triceps area). As that did not slow or stabilize the upper arm and shoulder with the move to c-spine injections, we opted to switch to Evrysdi to hope for some kind of “jump start” as there is the possibility that I had plateaued on Spinraza. This is not definitive, but was the primary reason for switching. I will say that I preferred the c-spine injections over the lumbar location.

What I like about Evrysdi:

1. Daily in either the liquid or recently approved tablet form.

2. It’s systemic and since it doesn’t have to cross the brain blood barrier, seems to be distributed more quickly.

3. #2 is important to me as within about 1 1/2 to 2 hours after my daily dose, my muscles have a sensation of activation. I only had this once in my 22 Spinraza injections; the 3rd loading dose.

4. #3 is important to me as I do see some modest improvements in strength after taking the Evrysdi at least 2 hours before my rather intense home exercise program and in my twice weekly PT sessions (1 land/1 pool). This doesn’t last more than 8 – 10 hours or so.

Things I don’t like or aren’t important to me about Evrysdi:

1. Some initial stomach/GI discomfort, but I modified my schedule to take it with a more substantial meal and these issues went away.

2. The liquid form requires it to be taken with a meal. That said, the newly approved tablet specifically does NOT have this requirement.

3. The liquid, which I plan on staying on for now, requires refrigeration. The packaging it comes in is a rather large Styrofoam cooler with ice packs in it. The tablets will not need this.

4. The liquid comes in 2 bottles, each with 12 doses. So an odd refill schedule of every 24 days. The tablet is 30 doses, so again, removes this oddity.

5. Not an issue for me, but the newly approved tablet will NOT work with feeding tubes. The liquid version is fine with this. However, the tablet can be crushed and taken mixed in water, but that can’t be tap water as it interacts with the protective coating (not sure how that works once crushed anyway!).

I hope this provides some insight into one person’s experience, but please feel free to reach out if you have additional questions.

Mike

[mike-huddleston]

On February 19, 2025, MDA held a webinar: “<strong style=”font-family: inherit; font-size: inherit; color: var(–bb-body-text-color);”>MDA’s Impact on Neuromuscular Research“. This very question on research funding was raised and the answer was very little funding came from the federal government. This was for all of NMD research, not specific to SMA. I did not note down (and don’t recall the percent mentioned) only that it was small. When they send out the link to the webinar in the coming week or so, I’ll run through it and try to find it and come back here and post the amount.

Obviously, what is going on and the rhetoric wording is unsettling and concerning, but I’d encourage everyone to focus on their mental health, self-care, and what we can control.

[mike-huddleston]

I am so very sorry to hear this news about DeAnn. I never had the privilege of meeting her either in person or virtually but appreciated her perspective in her articles. My heartfelt condolences to her family, loved ones, and friends. DeAnn had a powerful voice and message, and she will be missed.

[mike-huddleston]

Hey Alyssa –

Scholar Rock and CureSMA just did a webinar on this on December 18, 2024. I attended it. They are still filing for FDA approval in 1Q25 and hope for an approval before the end of this year. They also received FDA approval for an expedited review after that webinar, which means it could be approved more quickly.

Of note, this requires an infusion every 4 weeks.

[mike-huddleston]

Sorry, I forgot to mention, admittedly not sure if it will help, but Genentech is planning on having Evrysdi available in pill form next year. It’s before FDA for review and approval now.

[mike-huddleston]

Good morning. I switched from Spinraza to Evrysdi in September and use the same pharmacy. Other than the very first shipment being sent to the wrong address, I haven’t had any issues. They’re not great, but nothing as frustrating as you’re describing. I have it down to usually just starting my second bottle of previous shipment when the next one gets scheduled. Personally, I’d rather have it early than late, so no big deal for me. You can also sign up for text refills to see if that helps. I use it, get a text that I reply “Yes” to within 72 hours and then it’s just a matter of when it will be delivered. That may be different based on your prescription insurance benefits.

As far as them asking weight as another comment addresses, it may not be any of their business, but if it’s a data collection point being used to assess the need for higher dosing amounts like BioGen did over the last few years for Spinraza, they already have the data and it may not be a bad or for nefarious reasons.

Good luck! I hope your experience improves.

[mike-huddleston]

I think part of this potentially stems from already feeling a little awkward in some social situations. There are certain expectations that we just can’t adhere to. Additionally, people often don’t know how to react around those of us in power chairs. And some of it may also be related to being concerned with others’ expectations of us. Over the last few years, my right arm and shoulder have gotten weaker (I’m in the process of switching from Spinraza to Evrysdi to see if there are any differences).

This was never an issue for me before, but shaking hands has become more difficult. That’s awkward and even “bro hugs’ are a challenge. I try to modify my alignment with those I expect will want to shake hands as some positions are easier for me. That doesn’t always work and extending my right arm and hand is difficult if not impossible now in some angles. I was always raised to exude confidence with a firm handshake, so this has been an adjustment for me. I do the best I can, but hopefully, all or most other aspects of the interaction are positive, and the person tends to understand. Easier said than done, but I just don’t worry about it.

So with @angel ‘s permission, have the confidence of a drag queen and make the best of the situation (love this, BTW). If you feel like explaining, do so, but don’t feel like you owe an explanation or an apology. You are who you are; embrace that and having that comfort level and confidence with yourself may help you – and them – overcome any awkwardness.

[mike-huddleston]

I’m with Susan. You will absolutely need a neurologist to get this. A PCP cannot prescribe either of our current treatment options. You will need a clinical confirmation of your diagnosis. You will need to have a PT assessment to report your current Hammersmith and RULM scores. Neither test is something any PT can administer and likely isn’t even familiar enough to adequately or accurately assess your situation and condition. These can also be coordinated through the neurologist office. And finally, since you specifically mentioned Evrysdi, you can visit their website for additional information at either evrysdi.com or Genentech.com.

[mike-huddleston]

Interesting. I have my own negative experience with Kohls near me. I went in and was moving briskly, but not recklessly, to get from the entrance to the back of the store to drop off an Amazon return. No one anywhere near me, but an older, supposedly mature cashier stopped ringing up a customer , looked directly at me and said really loud, “BE CAREFUL!!” I stopped, looked at her and asked, “If someone was walking quickly, would you feel the need to tell them to be careful?” Response: “No, of course not” with indignation. Me and I’ll edit for the family friendly place this is: “Then you need to shut the ____ up and treat someone in a wheelchair with the same level of respect as you do someone walking.” This obviously and admittedly really triggered me.

I later called and spoke with a store manager who said, “thanks for calling”. I told him that wasn’t good enough and he needed to talk with her and call me back, not dismiss me. He did and he said she denied even saying anything to me and had no interaction whatsoever. I explained (again) what happened and that I wasn’t seeking further disciplinary action, but he should use it as an educational opportunity. I followed up with an e-mail to corporate HQ and spoke with someone there as well as the person who heads up their DEI department. A colossal sham and obviously DEI is for appearances only so they can “check the box”. Ridiculous.

So, I’m not surprised that they wouldn’t design the store to be more accommodating, but also realize floor space is at a premium that I’d imagine they weigh against the number of people potentially inconvenienced. Not sure what the options are, but my expectations are bare minimum in the accessibility area and that way I’m very seldom disappointed. It’s refreshing when you find a business that actually does more than the absolute minimum, and when found, I support them. That said, the bar of expectations is usually pretty low. Progress, but not where we need to be – yet.

Other than wider aisles and perhaps better ergonomics in the check out area (the one near me is a straight line, so not the same), what are your expectations? BTW, we have the same chair and color, although mine lacks all the colorful accessory bags and the awesome JACO arm! 😀

[mike-huddleston]

Very similar experience that I can completely relate to. 62 years old, Type 3 with 4 copies as well. I was ambulatory until 2015 and now use a power wheelchair. Much stronger on my dominant right side. I do PT twice a week (1 land and 1 pool) and have a rigorous HEP in an effort to maintain as much as possible until myostatin inhibitor and other future treatments become available. Not waiting on them, but thankful they’re on the way. Still, where I’ve apparently lost more motor neurons, the weakness progresses more quickly. When I was ambulatory, especially the last few years with Lofstrands, the worry or concerns of falling could be overwhelming and mentally exhausting at times. I actually started reducing some of my activities due to this concern. It’s real Diana, so I so feel this comment/concern.

Personally, I couldn’t use a walker (tried various devices with a PT) because I’m almost 6 feet tall with long-ish legs and when I “threw” them, I kept kicking the walker’s legs. Not a good outcome for me.

[mike-huddleston]

Sad but true, Alyssa. And I have little doubt that most, if not all, of us here have experienced this to some degree.

[mike-huddleston]

I just realized who this is. Should have paid more attention or realized. 🤨

Although this may be one of the benefits of myostatin inhibitors, the biggest benefit whether for repair or strength gains is somewhat, if not largely, dependent on the viable/salvageable motor neurons. The weakness in any area may be related to overuse and/or higher motor neuron loss for that area/muscle group or some unknown combination of the two. Neurologist can speculate or hypothesize about which is the more likely cause since we all progress in different (albeit similar) ways, but they cannot answer this definitively. If it’s overuse, the repair by and building strength is more likely than if the cause is higher motor neuron loss.

Regardless, I’m looking forward to the FDA approval later this year and hoping insurance doesn’t cause too much heartburn in approving this in combination with other available treatments of Evrysdi or Spinraza.

[mike-huddleston]

And, absolutely YES, we are so very fortunate to have options. I was diagnosed officially at 16 and am 62 and lived with SMA for about 40 years without the benefit of treatment. It touches my heart knowing that SMA Type 1 is no longer the leading cause of death for children under the age of 2. And that is directly related to the 3 treatment options available. I am so appreciative every single day knowing that there are literally thousands of people working diligently to make our lives better.

[mike-huddleston]

Hey Alyssa –

Always glad to share my experiences with others. I did want to correct a couple of things I mentioned though as I was going from memory (uh oh) and did a little more reading to make sure what I said was accurate:

1. The protocol for taking either the liquid or tablet form of Evrysdi states that it is no longer required to be taken with a meal. I thought this was just the tablet, but that now also applies to the liquid form.

2. The tablet is never supposed to be crushed. I referenced it as it pertains to the feeding tube, which is correct, but for those who want to mix the tablet in water and take it orally, they cannot crush it either. They can do what is called ‘dispersement in water’, which means they put the tablet in water and let it kind of dissolve into more of a slushy consistency and drink it that way.

Apologies for any confusion, but I hope these clarifications help others who may have read this exchange.

[mike-huddleston]

Hey Alyssa –

No worries and I’m always glad to help if/when I can. One of the nice things about being here is that we can share and learn from each other and from our experiences.

The GI issues were quickly resolved for me by just adjusting the meal I took it with. I initially tried it with lunch which is usually a very light meal for me. I switched to a bit heartier breakfast meal and that seemed to help.

As far as your questions:

– The consistency of the liquid form seems very thin, almost if not the same as water. Definitely not sticky.

– I’m not 100% positive, but I believe the issue with crushing the tablet up and using with a feeding tube has something to do with the protective coating on the tablets which affects absorption. IIRC, this is what the Genetech rep (like a BioGen FAM) told me. This may not be a concern as long as Genetech keeps producing both the liquid and tablet forms.

– For the transition, I think if you work out the timing correctly with your neuro, you can start Evrysdi about 90 days after your most recent Spinraza injection. My timing was a little messed up due to scheduling conflicts, so it was closer to 120 days, IOW, just about when I would have been due for my next Spinraza treatment. I did need a new PT assessment for the approval. I was able to take it the day I received my first shipment.

Hope this helps, but if not, ask away! 🙂

Have a good weekend.

[mike-huddleston]

I switched to Evrysdi in September after 6 years on Spinraza. I spoke with my Genentech rep yesterday who said she’s receiving a lot of requests about this. a few things of note:

1. It HAS to be taken orally, even if diluted in non chlorinated water. If you use a feeding tube, you can’t take it in the pill form.

2. It may require a new prior authorization to be approved. This depends on your prescription benefit plan. If yours requires it, it may be worth continuing until your current PA expires (usually annually).

3. It’s a 30 day supply! Yay! No more of the nice round 24 day supply. 🤨

[mike-huddleston]

First. congrats on the 10th anniversary for your non-profit. That is wonderful!

As far as the valproic acid study, personally I didn’t notice any difference or benefit. That said, I was still ambulatory at the time and could do most things they asked for, but it was basically the Hammersmith, a neurological exam, a DEXA scan annually, and the 6-minute walk test. There were no improvements in any of these in the roughly 2-year study. I have been using a power wheelchair full time since mid 2015.

The switch to Evrysdi was due to a significant drop in my shoulder and upper arm strength, especially on the right side. In September 2021, I had the Spinraza injection site changed from lumber to C-spine in an effort to get more drug closer to the area of greatest concern. Unfortunately, it didn’t help. So, the switch to Evrysdi was in an effort to provide a “jump start” as I may have plateaued on Spinraza. So far, I like it, but admittedly haven’t seen many improvements. A few things are about the same, and a few seem to be slightly better. I do like not needing an injection and taking it daily orally is convenient. I’ll know after my next annual PT assessment, which will be this summer.

[mike-huddleston]

Could not agree more Alyssa! I was in the first clinical trial for adults almost 20 years ago for valproic acid at Ohio State University (add a “THE” in front of that if it matters to you!! 🤣). At least that’s what I was told at the time. My thoughts then and now were whatever it takes to help get us where we need to be. And, more importantly, as someone who is 61 years old, it has always been about the children first, the rest of us who benefit as a result of studies and clinical trials is secondary. I mean, the treatment options mean SMA type 1 is no longer the leading cause of death in the US for children under 2. How absolutely amazing is that????!!!!

I was also fortunate to have been selected as a member in the first group of 5 adult patients in the state of Maryland to be treated at Hopkins. This was May of 2018 and I still get emotional thinking about that. I did switch to Evrysdi this past September, but the fact that we have options and more treatments on the way is overwhelming.

[mike-huddleston]

I think it’s worth noting that Spinraza clinical trials were not on adults and the FDA’s approval at the end of 2016 covered all ages. So, since it works in conjunction with Spinraza and Evrysdi, it seems to make sense that it would be approved for all age groups. Making sense may not be enough though.

The concern I have is for it to be effective, it would need functioning motor neurons. We are born with the number of motor neurons we lose them with SMA, in different locations and at different rates. In other words, I may lose motor neurons more quickly in my shoulders and another patient may lose them more quickly in their quads. So, it seems to follow that the myostatin inhibitor would be more effective in different ways for patients, in the areas with more functioning motor neurons, allowing for muscle growth to help compensate in areas of muscle loss and help strengthen areas less affected.

I had lunch with several folks in our community yesterday. One of them said they know of a 7 year old who was in the Scholar Rock clinical trials who has had significant benefit in his upper body strength and less so in the lower body. He’s a type 2, so not sure if that makes sense, but it’s certainly anecdotal.

Ultimately, I’m thankful for the ongoing efforts of those working to help us and improve our quality of life. There are studies underway and something called anthrobots, which generate new motor neurons, have been created in the lab. How that translates to animal and then human trials is TBD, but in combination with other treatments seems to point to significant progress. Plus, CRISPR and gene editing is another light at the end of the tunnel. There’s a lot of hope now and more on the horizon!

[mike-huddleston]

@susana-m Thanks for your message. I really liked acupuncture and how I felt. She applied a TENS unit to some of the needles for additional stimulation, which seemed to help. Unfortunately, they moved out of the area and I have not resumed this treatment, but your message resonated and has given me the nudge I needed to search for another traditionally trained acupuncturist. Thank you!

Yes, that kind of experience can make so much of a difference. I am fortunate in finding a PT about 10 miles from me that has a lot of experience with treating patients with NMDs, but specifically SMA; she’s worked with about 10 SMA patients between here in Maryland and previously in Ohio. I’ve been working with her since 2016 and see her for one clinic and one pool session each week.

[mike-huddleston]

Nothing new specifically, so I just keep an eye on research online and something seems to pop up from time to time. I was just excited when my friend at BioGen implied that this research is progressing well and may be available before the other products like Scholar Rock’s myostatin inhibitor. My question to her specifically was about the concern with loss of motor neurons and she said she believes CRISPR will help with that as well. Short of that, anthrobots look really promising for that.

[mike-huddleston]

Yea, I won’t shop at Kohls and give them my money. But, hey, if I have an Amazon return, they are definitely the closest option for that. In all fairness, I live in an area where I am fortunate to have many options.

As far as this part of your reply: “As long as minimum requirements are met the rest doesn’t seem to matter. When spaces are accessible for me they’re also accessible for parents with strollers or folks with walkers as well as a multitude of people.” I couldn’t agree more. I was just trying to understand what you were referring to since accessibility can mean different things to different people. Thanks for clarifying.

And about this: “I would love to see results from a study comparing revenue for a space that’s open as opposed to packed and cramped”. This is a tough one. I remember doing case studies in some marketing class in college where they discussed the layout of grocery stores based on human psychology and they actually have areas of expertise on space utilization. I wouldn’t be surprised if they have similar for retail stores, like Kohls. Not defending the practice, but it seems likely to me. I don’t know, but it could somehow be related to the Wal Mart Effect with stores trying to jam all things into smaller spaces in an attempt to be all things to all shoppers. “If we just jam in 10 more things on this aisle and do so by making the aisle 3 inches narrower, we will achieve our objective” or some other nonsense type thinking.

[mike-huddleston]

I hear you, Val. I won’t even consider flying for this very reason. Improvements are supposedly coming, but the current position of the airlines treating my chair like luggage and barely being willing to pay for any damage does not offset that I’m hugely inconvenienced, if not having the entire trip ruined, if they break my chair.

I mean, if I can get on a train, subway, light rail, bus, etc., and be able to stay in my chair, I know there are weight issues that make it a little more sensitive for airlines, but this is certainly something they should be able to accommodate.