A Summer Recap

Today is the last day of August, which means it’s the last day of Spinal Muscular Atrophy Awareness Month, the last day I need to feel guilty about consuming pumpkin spice flavored products, and the last day of the eighth month of 2020— the year that seriously NEVER FUCKING ENDS.

As I write this, I’m sipping on a Starbucks pumpkin spice latte that was dropped off at my door by a mask-wearing friend— a drink that I re-heated before consuming with my own straw (because COVID, duh). My guilt about enjoying this autumnal beverage is now at a very low level. I love pumpkin spice and I’m not afraid to admit that considering I’m less than 24 hours away from turning the calendar into a month that ends in “-ber.”

Reflecting back on August, and the summer as a whole, I’m just glad to get this season behind me. It’s been long. It takes a lot of emotional bandwidth to be a very high-risk person during a global pandemic. To have to sequester yourself in your home for months at a time (with no end in sight) because the virus is so tricky, and not enough people in the nation, and in the community, are taking this risk seriously. To know that if you get COVID19, it will probably kill you. To know all of those things, but still try to keep a routine, and stay as safe as you can. It’s a lot to juggle.

Those of us with SMA are often expert jugglers, thankfully. It’s something that Spinal Muscular Atrophy Awareness Month should definitely highlight— which it really doesn’t. We can balance home, school, work, medical, and care attendant schedules so efficiently that often people don’t even see us doing it. We’re like ninjas. Crippled ninjas with great organizational skills. Yet, oddly, society often mistakenly thinks disabled people like me don’t have anything to do. That we sit at home all day watching reality television shows and FoxNews. Which is weird. If I wanted to do that, I’d just be President of the United States.

This August has also been hot. And smoky. Having a disability that impacts your respiratory system isn’t ideal when a giant wildfire is burning just a couple dozen miles from your house. The apocalyptic ash falling from the reddened sky is not a great visual for a year that has already turned into a real-life Hunger Games.

Thankfully, the summer did have some bright spots. I got my 13th Spinraza injection at the end of June— which was the first time I had really ventured out of my house since March. The injection went smoothly and it was comforting to be in a place where people weren’t whining about wearing masks like little assholes.

The summer brought more good news on the SMA front— the FDA approved another treatment for my condition. It’s called Evrysdi, which unfortunately sounds more like the name of a magical elf from Lord of the Rings than it does a medication. I suppose it really doesn’t matter what the name is… just as long as they don’t manufacture it in a tree. Evrysdi is an oral suspension drug taken daily, unlike Spinraza which is administered via intrathecal lumbar injection every 16 weeks.

I’m excited that there is now another option available for our SMA community. Just five years ago, I never would have imagined that this would be the case. I never would have thought that pharmaceutical researchers would have bothered to take the time, or use the resources, to develop one, let alone THREE treatments for SMA. The third being Zolgensma— a gene therapy for infants up to 2. (No offense to the Zolgensma people, but your drug name sounds like a StarTrek villain that wants to destroy the universe with a laser. #SorryNotSorry)

Note: I should probably add at this point that I am available to any pharmaceutical companies out there that need help coming up with names for your future SMA drugs. It might save you considerable headache if you just ask me first. Because I will make fun of the name. I just can’t help myself. Just like I can’t help myself from imagining that Spinraza was the name of a 1920’s showgirl that waved around a 6-foot feather boa.

Anyway, that’s it for now. I think it’s best to wrap this up because I’m getting down to the bottom of my pumpkin spice latte. And it will take all of my concentration to slurp up the last orangey bits of nutmeg swimming at the bottom.

So, with that said… Cheers to all of you. xoxo

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A Pumpkin Eclipse

As the eclipse made its way over Patterson this morning, and the light in the sky dimmed like dusk, my first thought didn’t pertain to the rare astronomical wonder that was occurring. The event that captivated the country and seized the media’s attention in a way that we haven’t seen since OJ Simpson careened around Los Angeles in that damn white Ford Bronco.

No, as I peered from my kitchen window and watched the faded light dance on the trees outside, I felt something else that wasn’t celestial awe. Frankly, it was the hue of the sky that reminded me of something. Something that was very near and dear to my heart.

Why, the eclipse looked like… FALL!

My heart beats in an autumnal rhythm— it yearns for the shortening days of the fall, cool mornings and all things pumpkin-flavored. By this time of year, I actually have to tamper my excitement, lest it overflow and run amok— like a toddler in an inflatable jumpy house.

It is currently taking every effort of my soul not to prematurely put up my fall harvest decor— which includes scarecrows, ceramic pumpkins and candles so deliciously-scented that I would eat them if I knew the wax and chemicals wouldn’t make me vomit.

This kind of restraint is so difficult. I really, really want to pull out my box of autumn stuff. So badly. The same way a teenage boy longs for their PlayStation or a link to a free porn website.

To be honest, I can hear my fall decor calling to me in the hall closet each time I zoom by it in my wheelchair. It says things like:

“Elizabette… we’re here, come free us!“

“Who cares what people think?“

“Don’t deny us. You know you want this.“

Argh. The perky pumpkin voices are so alluring. You know that feeling when you’re a kid and you have a mosquito bite that you’re not supposed to scratch? And the more you don’t scratch it, the more you want to scratch it? Yeah, that. I bet Donald Trump gets the same feeling before he tweets something really stupid.

This would all be easier if the universe didn’t know that I adore fall. You may think this sounds insane— like the muddled ramblings of a girl that drinks too many pumpkin spice lattes. But, this doesn’t make it any less true.

pumpkin Here is Exhibit A.

A few days ago, we harvested these bell peppers from my garden. You will notice that they are shaped like mini pumpkins.

I didn’t tell them to do this. They grew like this voluntarily. Even the produce in my yard wants to be pumpkin-shaped!! It’s like an omen from the universe. A wonderful omen that fills my heart with joy.

But, I must wait just a little bit longer.

Oh, Fall, how I love thee. Soon, you shall be mine!

Spinraza, Turkey Burgers And The Voices In My Head

I had my 2nd injection of Spinraza earlier this week, so I’m pleased to report that I’m now worth a cumulative quarter million dollars. The little cells and neurons in my spinal fluid are so high-class that I fear that soon they’ll be too cool to spend time with me anymore. What if they forget their humble origins and do something snobbish— like adopt a British accent or befriend a Kardashian?!

The second injection was a little more painful than the first. Getting a needle through the labyrinth of my spine is no easy task— I’ve got metal rods in there to help with my scoliosis, some bony fusions and twisty vertebra. So, the doctor must slowly and carefully insert the needle, making microscopic adjustments and realignments as he/she goes. It’s like playing the classic board game Operation— one wrong move and the buzzer goes off. But, instead of a buzzer, they’ll hear me yell, “Argh! What the $&@#!“

So, yeah, it’s kinda fun.

But, the excellent neuroscience team hit the bulls-eye— even though it took a little longer than I would have liked. I lay on the table, on my left side, for over an hour as they worked their magic. I stared at the wall and tried to ignore the pain in my shoulder from maintaining the position they require for the injection. I tried thinking of things that would distract me— what food I’d order at the restaurant later on… why I seemed to be drooling so much on my hospital-issue pillow… and when would the pumpkin spice lattes finally return to Starbucks this autumn?

As I was approaching the end of my tether, I felt the tears slide in and I began to cry. Not the cute kind of crying, of course, but the wet, snuffly kind. The kind reserved for Hallmark commercials and cheesy movies like The Notebook and Rambo.

But, then, I heard a voice in my head… a teasing, yet urgent voice that was surprisingly insistent, “Come on now… NO PAIN, NO GAIN!” I recognized the booming voice instantly as my late uncle, John. It was comforting to hear his voice and it helped me push through that moment. I’m not a person that generally hears voices (I may have many other medical issues, but that ain’t one of them)… yet, that gravely, stubborn encouragement was just what I needed.

The end result makes all the pain and discomfort worth it, though. At the beginning of my journey, my neurologist told me that our goal was stabilization— to halt the progression of my Spinal Muscular Atrophy. That would be a victory. That would add years to my life. Any gains, even minuscule ones, would be icing on the metaphorical cake (if that cake cost $125,000 a slice).

As I mentioned in my last blog post, I began to see improvements very quickly after my first treatment. In the days since my second, I’ve felt tightening in the muscles of my back, legs and shoulders. I also managed to pick up a hefty turkey burger (something I couldn’t do easily before) and shove it in my mouth like a starving Chris Christie. I was so proud of myself. It didn’t seem to matter that I got meat juice and condiments all over myself— that wasn’t the point. The point is, I ate it without using a fork and a knife. I OWNED that turkey burger. That burger was my bitch. It was awesome. I bet Donald Trump felt the same way about Chris Christie during the election, too.

Anyway, soon I’ll be headed back to Stanford for Dose #3… stay tuned for more Spinraza fun!

xoxo

The Magic Little Bottle

I never imagined that one tiny glass vial could ever consume so much of my time, my thoughts… my efforts. My quest for this magic little bottle—this miracle drug— has been months in the making. But, on a recent July day— a resplendent blue-skied morning— it finally happened.

Spinraza is now real.

For those of you that haven’t been following my journey, you can read my past writings on this topic HERE. But, if you’re one of those people that used Cliff Notes or Spark Notes in school and are actually too lazy to go and read these posts, here’s a recap…

Right before Christmas, the FDA approved the very first treatment for my rare genetic condition— Spinal Muscular Atrophy (SMA). This progressive neuromuscular disease is the #1 genetic killer of children under two years of age— but there’s a small segment of us that manage to survive into adulthood. There is no cure. Due to a missing gene on my 5th chromosome, I am not able to produce a vital protein for muscle growth and maintenance. Instead, I must rely on alternate genes in my DNA to produce this protein. But, these alternate genes aren’t very reliable or productive— just like dial-up internet, a really stoned teenager, or the entire US Congress.

This revolutionary new medication tweaks my alternate genes, allowing them to produce more protein than before— like when Peter Parker was bit by that weird spider that changed his DNA and turned him into superhero. Don’t worry, though, I won’t be climbing walls or spewing webs from my wrists like Spider-Man. This is a treatment, not a cure. But, gaining just a little strength would make a big difference in my life.

In all honesty, I never thought I’d live to see the day when there was a real treatment for my disability. Just like I never thought I’d live to see an orange-tinted, reality television star become President of the United States.

So, yeah, I guess anything can happen.

Since the FDA approval in December, I’ve been laboring to get this treatment, having to surmount many obstacles. For example, there were tests of all varieties— physical and pulmonary exams, blood tests, genetic screenings, a polygraph test, and a breathalyzer.

Okay, I might have made those last two up.

I also had to contend with the insurance hurdles to get this very-expensive medication covered. At $125,000 per injection, Spinraza is an orphan drug— which means that it is so incredibly specialized that only the few of us with SMA can actually use it. Drugs like these are years in the making, so if only a small number of people can use them, each dose has to be very pricey to recuperate the costs.

Last month, the excellent team at Stanford Neuroscience called that I had been given the “green light” to begin treatment. It was one of the happiest days of my life. Just like the first time I drank a pumpkin spice latte and the day I first got an iPhone.

So, this week, we headed over to Palo Alto for my first lumbar spinal injection of Spinraza. The sky was blue with promise and there was anticipation crackling in the air. It took over an hour for two doctors to carefully maneuver the tiny needle into my spinal fluid— dodging the complexities of my scoliosis (the side effect of my SMA) as they went. But, with the help of live x-ray guidance, they did it.

When the nurse brought out the magic little bottle of Spinraza, I felt tears of joy, not pain, rush into my eyes. And when she finished injecting the vial into my spinal fluid, she said, “Elizabette— it’s in.“

Even though I had gone through a lot to get to this moment, I knew in an instant that my journey was really just beginning.

So, stay tuned, folks.

xoxo

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