Welcome to the Club
On December 2nd, 2022 I was officially diagnosed with ALS. I became an official member of the club. I was more than happy to sit on the sideline and cheer and encourage all of my pALS friends and caregivers! I was more than willing and ready to continue volunteering for the pre-fALS research study to help find biomarkers and a possible treatment for SOD1 ALS. But, ah, NO! I was admitted into the club.
On that day I was also told the FDA was going to be reviewing Tofersen as a possible treatment for SOD1 ALS. That if the intervention was provided early enough it could possibly stop the progression, and correct the genetic mutation while getting ongoing treatments. Hallelujah! Is this too good to be true?
I came home with mixed emotions. I was obviously upset about the diagnosis, although it was somewhat expected at some point. I still thought it was a decade or so off. And then, a possible treatment. Mind-blowing and heartbreaking all at the same time. The closest thing I can compare it to is survivor’s guilt.
And then, two days later a friend informs me that the FDA has delayed the review until April 25th!! Dang it, don’t they know every day counts?! My medical team decided to apply for early access to Tofersen on my behalf. The FDA has 30 days to review my case and grant or deny the request for access to an experimental treatment.
Let me explain the mind blowing and Heartbreaking part. Tofersen is a treatment that is supposed to correct the SOD1 mutation. While this is great, About 90 to 95 percent of ALS cases are sporadic, which means they are not inherited. An estimated 5 to 10 percent of ALS is familial and caused by mutations in one of several genes. The SOD1 mutations have been found in 8%–23% of patients diagnosed with familial ALS (fALS) but also in 1%–4% of patients without an overt family history (denoted sporadic or simplex ALS, sALS). Of course, these stats will vary based on the date and resource. Regardless, although I am grateful that I am in this very small percentage of people that Tofersen could help; it leaves most pALS out. The good news is that the technology can be used to produce treatments for other pALS that fall into other categories both familial and sporadic.
What are your thoughts on this gene therapy?
Would you be willing to try an experimental treatment?
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