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How do you feel when others discuss gains with disease-modifying treatments?
A friend of mine and I were talking about DMTs the other day, and how much I had gained from Evrysdi. I was kind of whining about how I thought I might have seen more progress, forgetting that she hadn’t until she reminded me. She took it with a lot of grace, thankfully.
But that did get me thinking of how I’d react to the same situation and why. How would you have reacted, though? And do you hope people would react to your response?
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6 Replies
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It definitely does frustrate me and wish that I had the same kind of success. I’m certainly happy for everybody who has had noticeable gains. But it does make me envious and wish that someday I will see some as well. It is disappointing when you feel heavy you are taking a placebo because you have noticed absolutely nothing
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So, I think it’s fair to feel frustration and/or envious. That said, I think it’s helpful to level set expectations. For most of us on treatment, there are two options available: Evrysdi and Spinraza. There is currently NO biomarker that indicates which of these, if either, will be MORE effective. So, there may be a trial and error aspect of it. I was taking Spinraza from May of 2018 thru September of 2024, then switched to Evrysdi. Last month, I switched to the tablet form of Evrysdi.
It’s helpful to keep in mind a few things: 1. These are not cures, but treatments. 2. There are many factors that may contribute to the effectiveness of either treatment, such as diagnosis/symptom onset to starting treatment (the longer this is, the more adverse effects of SMA has on the motor neurons and thus muscles), SMA type, number of SMN2 copies, and possibly even lifestyle/diet choices. 3. Motor neurons currently cannot be created or regenerated, so once they have died, those areas with more motor neuron loss will be more dramatically affected. 4. Those of us with SMA are fortunate with several treatment options available as there are many NMDs without any treatments available. 5. Other treatment options are on the way, such as Apitegromab and CRISPR/gene therapy. 6. There has never been a guarantee that we will get stronger, so a more realistic expectation may be for a slowing down or reduction/stop of progression.
I’m 62 years old with Type 3 and was diagnosed at 16, but symptomatic for about two years before that. The delay was likely because my next two older siblings had SMA; both are now gone and neither received treatment. One was gone before options were available (2004) and the other by choice (2025).
Rather than feeling frustrated or envious, I work hard every day to live the best life possible and take advantage of the treatment options we have. I’m also thankful that those treatment options are available, with more are on the way, that literally thousands of people are working hard every single day to make our lives better, and that Type 1 is no longer the leading cause of death for children under 2. Perhaps my age has something to do with this, and honestly, that’s likely, so I realize this perspective does not work for everyone.
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I wish that the gains were more noticeable. If the medication is just keeping things from getting worse, that in itself is beneficial , but it would be nice if experienced more than just the side effects to know it’s doing something.
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I do not have SMA myself, but my 7yo grandson does, and I am his caretaker. If I’m being honest, I always feel a bit saddened by success stories. I’m not proud of it, but it’s always the first emotion to pop-up.
My grandson was born in 2018 shortly before Zolgensma was approved. He was diagnosed in utero as a type 1 with one copy of a backup gene. My son and his girlfriend were connected to a family whose son had been in a trial, and was showing no signs of SMA (he was 4yo). My grandson was blessed to be enrolled in a trial taking place in New York. Needless to say we were all optimistic, albeit naive.
Two weeks after his birth, he and his parents were off to NY, and ready for treatment. Once there and under the care of the neurologist, it was determined that he was a Type 0. A few weeks before birth he had stopped moving in utero and was born symptomatic. Thankfully they agreed to treat him even though he was enrolled as type 1.
For two and a half weeks after he received Zolgensma, there was no progress. He barely moved, his breathing was labored, and he developed his first contracture. Nearly every follow up, we were given a negative report. Two months later he returned home to Florida.
He was hospitalized too many times to count for respiratory issues, diagnosed with failure to thrive and at one point doctors talked about placing him on a trach and beginning palliative care. Sometimes it feels like he gets a new diagnosis every year. He hasn’t met any milestones aside from rolling over and sitting (mostly assisted), but I am grateful for these. Despite the challenges he’s faced, we can see the benefits of treatment.
Fast forward to today at the age of 7, he is truly doing well considering his slow start. He was never trached, but used a non-invasive vent for several years before getting his bipap last month. In 2023, he had surgery for his scoliosis. After this, his respiratory health improved dramatically and he gained 20 pounds. He talks up a storm, and gives me a run for my money!
So, what’s my point? I’m not even sure! After typing all this out, I feel a sense of gratitude. I guess what saddens me about success stories is really fear. I’m frightened at the possibility that those who have not experienced the great outcomes we are hearing about and witnessing will be forgotten. It is those very people that still need to be at the forefront of the fight against SMA.
I will close with saying my grandson is such a happy little guy right now. He isn’t consumed with what his future will look like or how he will navigate life. It’s me!! 😣
Please forgive me if I have offended anyone. I wholeheartedly promise that is not my intention. I just started typing, and couldn’t stop. I am truly thankful for the opportunity to post my reply.
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CeeKay –
I just want to say thank you for sharing your grandson’s journey thus far with us. Expressing your concerns and emotional vulnerabilities is important, valid, and helps all of us. I’m so very thankful to hear of your grandson’s progress and hope these positive trends continue. It brings tears to my eyes and joy to my heart.
As mentioned above, I’m 62 and obviously have a different life experience and expectations. That in no way minimizes anyone else’s in any way. From the time I participated in the very first clinical trial for adult SMA patients to now and for the remainder of my days, my philosophy has been, “it’s all about the children”. It has to be our focus. If those of us who are older benefit from treatment and research, that’s appreciated and great. Positive success stories like yours, embedded with your concerns and wishes, prove that things are indeed heading in the right direction.
Bless your grandson, his parents, and you for all you do to help. Thank you again for sharing.
Mike
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Thank you so much for sharing your heart here. That’s exactly what this space is for. Receiving treatments and comparing your own experiences (or in your case, your grandson’s) to other people’s success stories can be a mixed bag of emotions. Sometimes it’s cathartic to just write them all out.
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