mike-huddleston
Forum Replies Created
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Hey Aimee –
Sorry to hear about Callie’s difficulties with a stander. So, a few thoughts on this, for whatever they might be worth. I’m a type 3, 62 years old, diagnosed at 16, who started using a powerchair full time 10 years ago. My condition had progressed to where walking was extremely laborious, fatiguing, and honestly, too risky for me. A bad fall in 2011 required more than 10 stitches in my forehead. The final straw was me falling and shattering my left tibia in June of 2015. So, I guess I could add “painful” to the above list. 🤣
Please keep in mind this was before any treatments were approved. I started Spinraza in mid 2018 and stayed on that until the Fall of 2024, when I switched to Evrysdi. I lost so much ability in those 3 years from using the chair full time as recognized in my PT sessions that I’ve been doing once or twice a week since October 2016. I do a clinic PT session and an aqua PT session each week. The progression, at least for me, was offset by me doing things like standing. I also have a very dedicated daily exercise regimen lasting about 2 hours.
So, my suggestions are to work with a good PT – not just any will do. Mine specializes in neuromuscular therapy, and specifically SMA. How fortunate is that? So, how do you find a good PT? My thought on that would be that hopefully you have Callie doing at least annual visits to an MDA clinic. If your clinic has a comprehensive care team, a PT will be part of that group. If they don’t have a comprehensive care team, talk with her neurologist to get suggestions on a PT or PT group affiliated with the hospital or clinic to get some suggestions. That PT/PT group should be able to work with Callie to assess where the pain is concentrated and how best to alleviate that. They can also work with her/you on AFOs or other devices that might help or evaluate Callie in her stander device to make suggestions or tweaks.
If your PT has aqua therapy available, pursue that. If they do not, and you or another family member or caregiver has the availability, check into local pools or community centers that may have therapy pool access (assuming she needs it). I use a transfer chair that lowers and lifts me out of the pool for my sessions. If you can do this, standing or moving in the pool is safe and much less stressful or painful.
And finally, encourage Callie to not give up and to try her best to push through this pain if at all possible. Standing has well documented physical, emotional, and mental benefits, so even brief standing sessions are better than none. Along with this is the recognition that these steps may help position her in a better place as new and better treatments, several already in the pipeline, are made available.
Best wishes to Callie – and you!
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Interesting question, Sherry. Thanks for posing it.
So, I’m a little on the, ahem, older side at 62 and was formally diagnosed with Type 3 at 16, meaning I’ve been living with SMA for over 45 years. Throughout my journey, I’ve experienced a lot of emotions and one of them is the feeling that I don’t or might not belong somewhere, and that can be further magnified by “taking up space”. I will say that I’ve gotten over that, but still periodically get annoyed with “normies” who completely disregard my space. Most people are okay, but the more crowded the situation or event is, the more people seem indifferent or rude. I think this comes from human psychology/sociology as much as anything else. There have been studies where people in groups behave differently than when more isolated. In other words, being in a group (crowd) provides anonymity and cover for their actions. Not always the case, but seems to be more often than not.
That said, I used to feel like I was unfairly taking up more space than I needed to, whether that was public transportation, elevators, restaurants, baseball games, you name it. But, my attitude now is that I have just as much right to be there as anyone else. My money spends the same, and my sense of community and enjoyment are just as real as anyone else’s. I’m just as much of a person or human as they are. So, to be blunt, eff them if they think otherwise or try to marginalize how I should feel by forcing their discomfort on me. It’s their problem, not mine, and I don’t allow them to control me or how I feel. That doesn’t mean I’m rude, but I’ve accepted my situation, believe I have value and rights as a person, just like everyone else, and don’t let their looks or comments, based on their ignorance or biases, affect me.
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How did I miss this topic????
Yes, I exercise every day, usually for about 2 hours. In addition, I do PT twice a week, once in clinic and the other in the pool with a therapist I’ve worked with since October 2016. My Home Exercise Program (HEP) is pretty comprehensive as my PT and I have reviewed it and tweak it if and as needed. It includes light weight (uh, of course) exercises, along with bands and exercise balls, various hand exercises, and some stretching. I also stretch for about 10 minutes before I get out of bed each morning and for a few minutes when I get in bed at night.
I doubt anyone here has heard My Story from when I was an ambassador for Spinraza (now taking Evrysdi). In it, I touched on why I have such a commitment to exercise. I had an older brother, Steve, a Type 2 (I’m a 3) who passed away back in 2004 at the age of 45. I carry two main things with me from him: First, we were talking a few years before he passed away and he mentioned that treatments were on the distant horizon but would likely not be available in time for him, but should be for me. Sadly, he was 100% correct about that. I miss him every day, but I exercise because it’s for him. Yes, I benefit, but it’s what he would be doing. I owe him that. The second, on a less serious note, is my love for baseball, and specifically my lifelong support for the LA Dodgers. I’m originally from CA and when he taught me about baseball, it was “Dodgers this” and “Dodgers that” and “Tommy Lasorda this”, etc. I’ve loved the Dodgers ever since.
That said, if possible, it doesn’t have to be 2+ hours a day. I encourage folks to exercise in some capacity and to their ability at least a few times a week. Stretching is also helpful, pool therapy is amazing, and just getting outside is a bonus. You want to be in the best position to take advantage of current treatments as well as the new and better treatments on the not-so-distant horizon, like the myostatin inhibitors.
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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”.
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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
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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.
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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.
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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.
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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.
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Hey Barry – I googled: “CBD gummies in Georgia” and most importantly, this was the first thing that came up: “Under the current Georgia CBD laws, the possession and use of CBD oil derived from the hemp plant, featuring no more than 0.3% THC, is legal for all adult residents. This includes several CBD products, such as oils, gummies, soft gels, and topicals.”
Within that query, I also found a number of online dispensaries in Georgia, so I’d encourage you to use your favorite search engine for either local or online availability.
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Completely understand the apparent disconnect or lack of reasoning by insurance companies. I’m a type 3 and started using a power wheelchair for the first time in 2015. It took 9 months to get approved, with initial denials stating, “not medically necessary”. Seriously. I did get an elevator seat on that first chair, but no standing option. When I needed to replace that chair, the elevator had stopped working and my insurance refused to pay to repair it. My new chair took another 6 or 7 months to acquire in 2022 even though my insurance allowed for DME to be replaced after 5 years. It was still a Sisyphean task. I was able to get an elevator seat, but had to pay for anterior tilt (nowhere near complete standing, more like maybe 30%). But the elevator seat required multiple rounds of denial/appeal/denial/appeal with my neurologist at Hopkins.
So, a lot of this depends on your insurance company or how your diagnosis is documented on the submission. So, they look at a robotic arm and think, “no way we’re going to agree to paying for that”. Once they start doing that, it’s harder for them to subsequently deny additional requests for coverage.
This whole insurance denial as the guiding principle is frustrating and one of my real concerns of the new treatment of myostatin inhibitors currently under FDA review with an expected approval this fall. This treatment is most beneficial in conjunction with either Spinraza or Evrysdi per Scholar Rock’s studies. This treatment will augment those other treatments, but I have no doubt that it will be a huge battle with insurance. The challenge is further complicated in that Spinraza is considered a medical treatment and thus covered under medical insurance. Evrysdi is covered under prescription plans. Depending on whether the myostatin inhibitor, which requires a monthly infusion, is considered medical or prescription will potentially prove even more challenging based on your current treatment plan.
And further on the horizon will be the whole gene editing or CRISPR treatments. A lot to be thankful for in the potential treatment options already available and those coming down the pipeline, but the whole affordability and insurance coverage is a huge unknown.
We’ll get there, but the hoops will be there to hop through.
Sorry, I got into a bit of a rant there, but there are many good things, and most of those will be fought with outright resistance from the insurance companies, whether at the private, state, or federal levels.
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So, I use a power wheelchair but have not pursued any form of robotics up to this point. But, as far as insurance, they are in the usual business of denying first, especially for unique or expensive DME, thus forcing you to justify it via an appeal. And it’s not so much that they approved the $30k wheelchair and then denied the $12K OBI, but many of them follow the approved devices or features established by Medicare and Medicaid. So, features on a power wheelchair such as elevator seat or standing options are very often denied because they are not “approved” by the government. Some of these options are now at least being considered, but don’t expect much, if anything, and not quickly. The reforms being considered will reduce funding further for these programs and if that happens, you can almost certainly anticipate further decreases in funding support for Medicare and Medicaid, which means many if not most private insurance companies will not be expanding DME coverage. It’s a mess and unfortunate as it directly affects quality of life and independence for us and so many within our community.
Additional annoyances for me are knowing that military folks with federal insurance through DoD, whether or not they were ever active duty, can get a new power wheelchair – no questions asked – every year. A far cry from those of us whose experience is more along the lines of every 5 or 6 years, chair falling apart, and then needing a justification based on how much it would cost to repair vs. replace with new. And that is in no way a knock or attack on the military and the many sacrifices they’ve made.
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Out of my element on this, but that is absolutely fantastic!
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Thank you for your kind words, Alyssa.
I definitely understand that I’m pretty fortunate thus far and try to never lose sight of that. I just meant to encourage everyone to do what they can; anything is better than nothing and again, if possible, can have a positive effect. Insurance concerns me as well, as they are built to decline, which places the burden on us to prove what we need. Sure, there are people who abuse it and take advantage of it, but we’re all adversely affected by that small number of folks. The potential for benefit reductions depending on what Congress does with the reconciliation bill could have devastating effects on those in our community. And much of what we need from treatments to DME such as power wheelchairs are so expensive that the denial is almost always automatic. 😠🤯
The concern I have is with upcoming treatments and insurance coverage. How willing will they be to consider combination treatments such as Spinraza or Evrysdi along with the myostatin inhibitors? The efficacy in clinical trials as I recall was in combination with these treatments, not as a standalone option. They (some, not necessarily all) already make it a hoop hopping experience to just get the basics approved. And myostatin inhibitors, if I remember correctly, require a monthly infusion. That in and of itself could make that treatment difficult for many to obtain, even if insurance is willing to cover it.
These are good problems to have in the sense that it means progress is being made. But if insurance denials happen or if someone doesn’t have the ability to make it to a monthly or otherwise appointment for treatment, these things could just add to the frustration. Interested an anxious to see how this works.
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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.
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Sad but true, Alyssa. And I have little doubt that most, if not all, of us here have experienced this to some degree.
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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.
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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.
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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.
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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.
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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. 🤨
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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.
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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.
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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!