It's been a long time coming. I guess it's according to how you look at it. You could say we've been waiting 23 years or you could say we've been waiting for a few years, which is when we've been aware Risdiplam/Evrysdi has been in trials. Or you could say we've been waiting since we were hoping to get into EAP (early access program). Or you could say we were waiting since it was approved by the FDA on August 7th 2020. Any way you/I look at it, if feels like we've been waiting.
So what is this, anyway? In a nutshell, it's a liquid medication/therapy that is given daily and it treats SMA by targeting the SMN2 gene. The SMN2 gene is considered a back up gene to the SMN1 that is missing or mutated in SMA patients. This helps the SMN2 work as a more 'complete' protein as it is not a fully working protein. So Evrysdi steps in and helps make SMN2 (survival motor neuron) complete so it can do its job and send out signals which are essential for muscle strength and movement.
Is this a cure? No. Will it stop progression of Casey's SMA? That's what it's supposed to do. Which is what Spinraza, the first ever treatment for SMA is approved for. Casey was on that for almost 2 years. It was through a lumbar puncture. I could go on and on about the complications and pain and cost of this. Evrysdi is given daily at home so we can administer it ourselves. No going to the hospital and spending the day and getting a lumbar puncture and anesthesia every 4 months. And, the medicine is sent directly to our home.
Of course there is more to tell but I'll keep this short for now.
Casey is very happy to be getting this med. Ever since it has been approved he has been asking about it. I've spent a lot of time getting this done, which is a story in itself. But thanks to our PAL, which is a patient access liason, we've got it done. Right now Casey is on Genentech's Start Program which is free for a month (or 2?) which insurance is worked out. If insurance does not approve, there is an assistance program that Casey would qualify for.
We won't stop fundraising for Cure SMA until there is a cure. But this is HUGE! Of course there are other charities that have funded research for Evrysdi and we are thankful for there hard work and dedication too.
.......
Of course today is also a significant day as it is a day in 2001 that we shall never forget. Casey and I watched some documentaries on 9/11 today. He was very interested and then it became too much for him and he got a little distressed. It's hard to process such a tragedy when you have to use a communication device to try to express your feelings. Casey was only going to go to a half day afternoon kindergarten that day. Of course I elected for him to stay home I believe that it was canceled anyway. Colin was just an infant. I don't know anyone who was in the city that day. My brother, a Suffolk County Highway Patrolman (motorcycle. He wanted to go into the city to help but he was assigned to bring NY government officials to a safe place and do his thing there...
Nothing has ever been the same since.
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