Thankfulness Day #2

 Technology:

Is it cheating to say 'the Internet'?  I guess the web is the all encompassing technology.  But I am very thankful for it. 1997. I had no computer.  I think Gene had some kind of work computer.  But we didn't have one that I had access to.  Casey was diagnosed with SMA in May of 1997.  Who had ever heard of Spinal Muscular Atrophy before?  Certainly not us.  My sister contacted Families of SMA (now known as Cure SMA) and they sent her a bunch of information. I kept a box of their newsletters in our backroom.  I couldn't look at them without sobbing.  There was too much sadness.  And back then there was NO treatment. Today there are 3!  My SIL lent me a desktop computer so I could use the Internet to research SMA.  For some reason we had it on the floor in the living room. It was probably because we had to hook it directly into the modem and it was only able to reach a certain area. So I learned about the Internet and AOL and Yahoo. I learned about SMA.  I also found my lifeline.  There were other families out there with the same diagnosis. We weren't alone.  I know I did a lot of emailing with families back then.  There was no Facebook or anything like that.  One mom set up a website and a board where we could write back and forth to each other and ask questions and give support.  A true lifeline.  There have been families that I connected with back then that I am still friends with today.  And that's kinda cool.  

Thankful Day #1

 I had fun with 30 Days of Thankfulness several years ago.  I hadn't found another set of prompts I really liked until I found this one.  It seems doable so I'll give it a whirl.  

A Smell:

Gene made bread in the bread machine and it actually turned out pretty well.  It's been hit and miss over the years. We go through phases when we use the bread machine and then we don't touch it for months at a time.  I have a thing about yeast.  I've not been too successful at baking anything that requires yeast.  But, with a bread machine I have a fighting chance. But back to the smell.  The smell of baking bread is homey.  It tickles my senses and my nose feels happy.  Having a happy nose makes the rest of me feel happy.  Every room in the house that I walked into had the delicious bread baking smell.  I actually walked outside and came back in, just so I could get the smell fresh in my nose again.  Weird-probably. I could even smell it in the bedroom when I went up for the night.  It made me smile.  

Halloween 2020

 I felt sad all day. My heart hurt and my stomach was queasy. Halloween was Colin’s time. He loved all things scary. He would always try to get out of school work and find scary things in the Internet and he would make his scary, “raaaahhh” sounds. Priscilla and Mel had a hard time reining him in during this time of year. 

We decorated this year. I think we did last year, too. Casey really enjoys it so we do it. It’s just not quite the same. But we put out all of our accumulated decorations mainly in the yellow room and wish room.  We don’t ever do much outside.  

Nurse Julie ended up being able to work so that was good.  She hadn’t been here for about a month.  Casey was still in bed when she got here.  Within minutes of her being here she noticed that Casey’s mouth looked like it was moving up in the corner more than before; like he was smiling.  I can tell when he smiles because his eyes crinkle.  He lost his smile because of the weakness SMA causes. I would love to have him be able to show his smile with his mouth!  Then we showed her his feet.  When he’s laying down and his feet are propped in a way that they’re not touching the bed, he can move them up and down like he’s using a gas pedal :)  She said his movements we bigger and looked stronger!  Yay for Evrysdi!  

Casey dressed as a Scottish bagpiper.  

Gene, Julie and Casey carved pumpkins.  

We never get Trick or Treaters here.  I sent some little Halloween things and treats to Conor and Eddie.  

Evrysdi at last!

 

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.

Fire Pit

 We finally got out to the fire pit. All summer we were lazy and didn’t want to deal with mosquitoes. I had Casey’s mosquito netting over his head but he didn’t really need it. The nights have been getting so cool that the mosquitoes must have gone south, haha. We’ve had beautiful sleeping weather. I love having the windows open and feeling the cool breeze flow though at night. 

Jaxon was a brat and ate grass.  Casey kinda liked being out there but he was worried about the fire.  I made one LARGE s’mores.  Gene fed the fire and we ended up burning 2 Christmas trees.  And yes, one was from 2 Christmases ago.  

Anyway, here are the pics.