Driven To Laziness

As a species, I suspect we humans are getting lazier with each passing year. While I love technology as much as the next person— in fact, I probably love it more— I think it has caused our brains to shrivel into the size of a bar of soap. Not the regular kind, mind you, but the cheap travel-sized ones you buy at Dollar Tree.

We can’t be bothered to do the simplest things anymore— like memorize phone numbers and learn how to read a map. Instead, we have our smartphones do this for us. Last week, I used Waze, the navigational phone app, for the first time. It’s pretty great, but it takes away any need to think. All you have to do is trust the Waze system and blindly follow its directions. It’s like living in North Korea and watching their state television. If you do what they say without question, you won’t end up dead in a ditch outside Pyongyang.

Waze constantly updates the driving route based on current traffic conditions. It even gives live alerts for upcoming stalled vehicles, CHPs, road construction, and where to find the best tacos within a 2-mile radius. Okay, I might have made that last one up. But, if the Waze people are as smart as I think they are, they should do that, too.

Yet, I fear we rely on these navigational apps, like Waze, too much. In fact, we probably couldn’t even find our way home if they suddenly stopped functioning. I’m not kidding. There’s a good chance that many of us would end up lost— wandering for 40 years in the desert like Moses.

And, I don’t know about you, but I’m not built for that kind of hardship. I get burned within minutes of being in the sun and I freak-out at the sight of an insect. I would not have lasted long in the desert with the Israelites.

As a society, we are also good at trying to make things more convenient that really don’t need to be made any easier. At the store yesterday, I saw a bin of russet potatoes priced at 98 cents a pound. Next to those, were a small pile of russet potatoes that were individually wrapped in plastic. These potatoes were 98 cents, each, and were labeled “microwaveable potato.”

All potatoes are microwaveable. And they already have a handy feature called a “skin” that acts as a natural covering. Are we that lazy that we can’t wash a regular potato, poke some holes in it with a fork, and stick it in the microwave? Or, if we’re not crunched for time, rub some olive oil on it and bake it in the oven?

This makes me a little sad for all of us. If Moses were around, he’d probably stroke his beard and remark in dismay:

“Oy vey!”

The DNA Don’t Lie

It’s been a whirlwind few weeks since the announcement of the FDA approval of Spinraza— the first-ever treatment for Spinal Muscular Atrophy.

Considering I had never heard of Spinraza until a few weeks ago, it’s amazing how fast a new word can enter a person’s vocabulary. It’s like when we were introduced to the expression “hanging chad” during the 2000 Presidential Election. No one had heard of a hanging chad before, and suddenly it became the most important thing in determining how to count votes in Florida— which in turn would decide who would become the President of the United States. It was all anyone could talk about— like that one time when Janet Jackson flashed her boob at the Super Bowl.

In case you are wondering what a “hanging chad” is, it’s what happens when a person voting using a punch-out ballot doesn’t push the little circle all the way out of the paper.

It’s not surprising the 2000 election kerfuffle happened in Florida. Everything weird happens in Florida. Those people are so chronically dehydrated from their ridiculous humidity that they don’t have the strength or clarity of mind to do much at all— let alone punch out a ballot correctly. I know I can’t even remember my own damn name if the temperature climbs too high.

Anyway, it’s rather remarkable that Spinraza, a word I’ve never uttered until recently, I now say at least three or four times a day. That’s nearly the number of times I utter the word f#%$. So, yeah, that’s a lot.

As I’ve documented on this blog, previously, I’ve begun the process to get Spinraza. And, “process” is definitely a way to describe it. They aren’t just giving this stuff away— like it’s a free donut at Krispy Kreme or a cabinet position in the Trump administration. No, they want me to earn it.

Today, I’m one step closer to achieving this goal. To qualify, a big component is having a DNA test on file showing my SMA gene configuration and my number of SMN2 copies. This is required because Spinraza may only work for those who meet certain parameters.

While a DNA test has been the standard way to diagnose SMA in recent years, I had never had this done before. I was diagnosed by muscle biopsy as a toddler, instead. I still have a two-inch white scar on my left thigh as a memento of the occasion. Good times.

Even if I had wanted it, DNA screening wasn’t around when I was diagnosed in the 80s. Yet, we did have lots of other things worthy of note that decade— like Cabbage Patch Kids… the Berlin Wall… and Bill Cosby before we found out he was such a pervert.

But, today, I’m one step closer to achieving my goal. I just got my DNA results and… *drumroll please* … It’s official, I do have Spinal Muscular Atrophy! And 3 copies of the SMN2 gene!

I know that may sound anticlimactic. But, I suppose it’s good to know I just haven’t been faking this for the last 35 years. I really am disabled. Yay, me!

Now that this hurdle has been cleared, I move on to the next step… getting insurance approval. Given the revolutionary nature of this treatment, and the limited folks that can use it, it comes with a hefty price tag— $750,000 for the first year… $375,000 per year, thereafter.

Yes, you read those numbers right. It’s not a typo.

My doctor at Stanford expects insurances to fall into line, but there’s no guarantee. So, keep your fingers crossed for me. I’m gonna need it.

XOXO

Muddy Habits

As the old saying goes, “Some habits are hard to break.” I tend to think that all habits are hard to break— otherwise we wouldn’t call them habits. They’d just be things-we-do-sometimes. Or stuff-we-do-without-thinking-about-it. Or, if you’re President of the United States, it would be called Tweeting-At-3am.

I have many habits; in fact, my life is awash in routine. I find it calming to live life this way. To use another cliché, I am not the kind of person to “fly by the seat of my pants.” In fact, this would be a physical impossibility since the seat of my pants is firmly affixed to my wheelchair. Unless Superman swoops down from the heavens, I’m not flying anywhere. This is not to say that I would object to this concept, though. I wouldn’t— because Clark Kent is hot.

Not all my habits are as healthy or as useful. For example, when I get anxious, I pick at my fingernails. As a kid, I used to bite my fingernails, but when I learned how many germs lurk underneath, I was totally cured of that practice. So, now I pick at them, instead. It is still somewhat gross, but less disgusting. At least that is what I tell myself.

We all have habits, like these, that we shouldn’t do. Given the heaps of rain we’ve had this year in Patterson, I know one thing that no one should be foolish enough to try— and that’s driving a vehicle into, or through, the mud.

Our agricultural land is rich— and heavy. The nutrients and clay make the ground in the Patterson area some of the best soil in the world. But, this heaviness means that if the soil gets saturated, or even slightly wet, it will sink anything that tries to drive through it.

So, please, don’t do it. I’ve seen cars, trucks, vans, tractors, school buses, and most recently, a USPS mail truck, get stuck in Patterson’s mud. It took three men to free the poor, bedraggled mail truck from the sloppy mess.

Take a wrong turn? Decide to try to turn around off the side of a country road? Think again. You better hope you find a friendly farmer or a dude with a huge truck to pull your dumb self out of the mud.

If, by sheer luck, you manage to not get fully stuck, you will make such a mess getting out of the mud that the resulting crater will be seen from space. Russian cosmonauts on the International Space Station will be too busy laughing at you to help rig any more elections.

I’ll make you a deal. If you promise to not drive in the mud, I will try to stop picking my nails. While I can’t make any guarantees, I’ll do my best.

Maybe these habits won’t be that hard to break, after all.

A Stanford Valentine

On a typical Valentine’s Day, one might expect a day of romantic gestures— giant teddy bears, Papa Murphy’s heart-shaped pizzas, and overpriced jewelry from the neighborhood mall. Since my boyfriend is of the fictional variety, I don’t have to worry about pretending to like the “chocolate diamond” necklace he bought for me at Zales.

This week, my Valentine’s Day definitely wasn’t a typical one— I got to spend the most romantic day of the year at the Stanford Neuroscience Building for my Spinraza evaluation. Upon arriving, we proceeded to not be able to find any handicapped parking in the garage. This is the irony of going to a place where a good number of the patients are crippled just like you. Handicapped parking becomes a valued and scarce commodity— like Stradivarius violins, raw uranium ore, and politicians with integrity.

The first item on the agenda was a lumbar spine CT-scan. Spinraza has to be administered into the spinal fluid, so the neuromuscular doctors need to verify that there is a pathway available in the lumbar region for their mega-pointy needle. For folks like me who have scoliosis and spinal rod fusions as a result of our Spinal Muscular Atrophy (SMA), this isn’t an easy task. You know Pin The Tail On The Donkey? Imagine playing that, blindfolded, with a donkey that has anatomy that closely resembles the tornado from Wizard of Oz. Try to pin the tail on that donkey’s ass and you might hit Glinda the Good Witch instead.

Anyway, after my lumbar CT-scan, I went to see the team of specialists. After taking my vitals, the first thing they wanted to do was find out my weight. This was not as simple as it sounds.

If Elizabette’s wheelchair weighs X pounds without her sitting in it, and it weighs Y pounds when she is sitting in it, how much does Elizabette weigh?

This problem would have been easy if I had known my wheelchair’s weight without me sitting it in— aka, the tare weight. Which, of course, I didn’t. So, we had to do it the hard way. But, I am now pleased to report that the tare weight of my wheelchair is 377 pounds— this does not include me and my backpack full of random stuff. That’s super heavy. Therefore, I’d like to apologize, in advance, if I ever accidentally run over your foot. Or, even purposefully— which I might do if you’ve pissed me off enough.

Anyway, after that was completed, I met with two neurologists, a few nurses, a physical therapist, a respiratory therapist, a blood-draw technician and a circus juggler. (Okay, I might have made that last one up.)

Everyone seemed professional and I was encouraged by their thoroughness. Although, the physical therapist and respiratory therapist were kinda bossy— in a good way that brings out my competitive nature. If anything is turned into a game or a test of skill, I will win, goddamnit.

They tested my pulmonary functions and my physical strength using an assortment of cool gadgets. These will be the benchmarks they will use to measure potential progress moving forward.

All in all, it was a tremendously long, but encouraging, day. The preliminary lumbar CT-scan radiology report indicates that I have a potential open spot on my L5 vertebrae, which is a promising sign. I also learned that the radiologist thinks I have a really big bladder. This is not surprising. I can comfortably go quite a long time without peeing. I suspect that my bladder can currently hold more water than the Oroville Dam.

I’m grateful to the family that joined me on the trip to Stanford and fed me peanut butter and jelly sandwiches. An influx of sugar makes anything more tolerable. If everything falls into place, I’ll try to get Spinraza. It’s still a long journey ahead and I have lots of hoops to jump (or wheel) through, but I’m on my way!

A New Frontier

Santa Claus and his most bureaucratic and boring reindeer—the Food and Drug Administration—bestowed a gift to the Spinal Muscular Atrophy community this past Christmas by approving the first-ever treatment for the genetic condition. The gift comes in the form of a liquid that gets injected into the spine using a really long and pointy needle. While a chewable pill (a la Flintstone’s vitamins) would have been preferable, I suppose crippled beggars can’t be choosers.

It is estimated that only 1 in 10,000 babies born have Spinal Muscular Atrophy (SMA)— including me. It is the #1 genetic killer of children under two years of age. But, there are a minority of us that manage to live well into adulthood, although our physical strength does slowly deteriorate over time and our life expectancy is abbreviated, or truncated— like Trump’s hands.

One in 50 people are genetic carriers of the condition, but since it’s a recessive gene, it takes two copies of the faulty gene to actually cause SMA. Carriers have one bad gene copy and one regular copy. So, to have a kid with SMA, two carriers have to get together. Even then, there’s only a 25% chance their child will end up with SMA (also known as the fuzzy end of the genetic lollipop).

In those of us with the condition, our SMN1 protein coding genes (located on the 5th chromosome) are, in all honesty, kinda fucked up. This protein is essential in muscle development and maintenance. Without it, we must rely on alternate SMN2 genes as our only source of this essential protein. But, these alternate genes are notoriously wonky and unreliable— like the U.S. Congress.

This newly-approved treatment, Spinraza (nusinersen), is an antisense drug that aims to give the alternative SMN2 genes an extreme makeover— turning them from faulty backup genes into fully functioning supergenes. It’s like what would happen if you grab Charlie Sheen, take his drugs and hookers away, and force him into rehab by tying him to a hospital bed. Eventually it’s going to have an effect on him, right?

Well, that’s the idea of Spinraza. In theory, it’s a pretty great concept. And, in clinical trials with small kids, it’s had miraculous results. Kids that should have died, didn’t—and some showed improvement in muscle function and strength— achieving unexpected milestones.

The FDA approved this treatment for all ages and all types of Spinal Muscular Atrophy. Trial research focused on infants and young children, but treatment has been expanded to include teens and adults. This isn’t a cure-all, and it’s important to note that adults won’t see as dramatic results as the kids do. The data is still coming in, but this is a promising beginning.

This week, I head to the Stanford neuromuscular clinic to discuss Spinraza and see if it will be possible and feasible to get the treatment. Given that it must be periodically injected into the spinal fluid like an epidural, it won’t be an easy undertaking and the results are still uncertain.

I have dueling emotions about this whole thing. I’m optimistic and hopeful— but I don’t want to end up like this year’s Atlanta Falcons, who thought they were totally gonna win the Super Bowl until Tom Brady and his hot manliness came and stole it all away.

When you live your entire life with a disability, it becomes a part of you, shaping your identity, your view of the world, and your own place in it. I wouldn’t be “me” without it. Before this bombshell Spinraza news at Christmas, I never thought there would be a treatment for SMA— at least in my lifetime. I never even imagined it. So, it’s hard to fathom that it may be true.

I’m sure folks in 1969 felt the same way about the Moon Landing. You can’t imagine a man on the moon until you see Neil Armstrong awkwardly toddling around on its chalky surface— like an 18-month-old at Chuck E. Cheese.

We will see how things go. I’m quite nervous and anxious about it. But, if it is logistically feasible to pursue Spinraza, and if there is a chance that it can extend or improve my life, I’m going to give it a go.

Wish me luck… And, I’ll keep you posted.

XOXO

Thought of the Day

(via Grammarly.)

Rain, Pizzas, and Things That Annoy Me

We all have things that annoy us. The things that make us grumble and roll our eyes. Overpaid celebrities that complain about the hardships of being famous. Potato chip bags that are only 35% full when you buy them. People who don’t text.

If you are over 70, I will give you a pass on that last one. Otherwise, get with the program. And, for goodness sake, don’t leave a voicemail. Many of us consider voicemails to be, at best, an irritation and, at worst, a harbinger of doom— like a Sean Spicer press conference.

Yet, despite these examples, there are few things as trite as a Californian complaining about the weather. After all, we live in the land of sunshine, moderate temperatures and the Kardashians. What more could we possibly want? Plus, here in Patterson, we enjoy vistas of palm trees, lushly cultivated fields, and more pizza places than one town could conceivably need.

Seriously, though, we have a lot of pizza places. As a town, we must consume more pizza than I think. Otherwise, we wouldn’t have quite so many places to buy it, right? Our per-capita pepperoni usage must be— to borrow a word from Mr. Trump— huuuuge.

Anyway, given the drought plaguing our state, I’m thrilled to see all the rain. Truly. It’s been the focus of our hopes and prayers. However, when you’re used to sunshine and palm trees, if you don’t see the sun for the better part of a week, you start to feel blue.

The other morning, during a brief pocket of sunshine, I stopped in the middle of the Savemart parking lot, turned my face to the sky and let the warmth and Vitamin D soak into my face— along with UV rays that will eventually make me haggard and wrinkly.

I am fully aware that I sound privileged and whiny. I should be nothing but grateful for the rain we have received. Especially considering there are some places in South America’s Atacama Desert that haven’t had measurable rainfall in 500 years. That’s a long time. If you’re waiting for rain in the Atacama, you might have to live and die 7 or 8 times just to see it happen. And you thought waiting in line at the DMV was bad.

But, please forgive me for complaining. Sociologists would place me as an older member of the millennial generation. According to them, we millennials can’t help ourselves from exhibiting these behaviors. While I’m not certain I agree with this assessment, my hipster reward card does have enough stamps on it to qualify me for a free soy latte made with sustainably-grown coffee, organic vanilla and freshly-harvested unicorn tears.

Nonetheless, I will do my best to continue to be grateful for the rain. But, if that fails, I’ll just drown my sorrows in a pizza— or seven.

The Not-So-Super Bowl?

Where’s the pomp? Where’s the circumstance? Where’s the nachos?

Each year, the fervor around the Super Bowl reaches such a crescendo that by the week of the game, I am OVER it. The kind of OVER it I usually reserve for fads that have dragged on for just a little too long— like manbuns and Justin Bieber’s career.

However, am I the only one that has noticed that the nation’s excitement for the Super Bowl this year seems somewhat muted? Where’s the endless news coverage? Where are the beer commercials and the scantily-clad models eating dripping, fatty burgers that they would never, ever eat in “real life?”

This is not a complaint, mind you. After all, I like professional sports about as much as I like Hawaiian pizza. And, trust me, I do NOT like Hawaiian pizza. It’s gross and unnatural. Whoever thought of putting pineapple on a pizza should never get to eat pizza again. In any state, including Hawaii.

But, I digress.

Is the excitement for the Super Bowl as fervent as usual? Maybe it is and I’m just intentionally living under a rock. Sometimes I do that. Like that time 15 years ago when I refused to accept that the television show, Friends, was really ending? Or that time last week when I didn’t want to accept that Barack Obama wasn’t our president anymore?

There’s no way that football’s popularity is waning. After all, a testosterone-driven culture, like ours, doesn’t just change overnight. America doesn’t just wake up one day and say, “Fuck Football— I’m going to sit here and knit myself a sweater, instead.”

We aren’t that evolved… or that crafty.

Unfortunately.

#groundhog

Aside from Mickey Mouse and Rudy Giuliani, Punxsutawney Phil is probably the most famous rodent in the world. Since 1887, the chubby groundhog has emerged from his burrow every February 2nd to give a super-scientific weather prediction. If he sees his shadow, there will be six more weeks of winter… if he doesn’t, there will be an early spring.

Due to the movie Groundhog Day, starring Bill Murray, the event has gained a nationwide following. This morning, The Today Show broadcast the event live. I watched it, transfixed. It was folksy and quaint… I hadn’t seen that many old white guys in one place since Rex Tillerson’s Senate confirmation.
phil1
Hundreds gather each year in Punxsutawney, Pennsylvania to witness this event. They drink lots of beer, wear weird top hats, and hoist poor Phil in the air triumphantly like baby Simba in the Lion King. When he did that this morning, a large part of me hoped that the groundhog would pee on top of the man’s head. Now that would be good television.

According to Phil’s prediction this morning, we will have six more weeks of winter. After seeing his shadow, he returned to his burrow— his job complete.

Time will tell if the groundhog is correct…

#januarying

When the Romans weren’t busy building aqueducts and drinking lots of wine, they took time out to create a unifying calendar system. After all, it’s impossible to run an empire if everyone can’t agree on something as basic as what day is Wednesday. Can you imagine the chaos? It would’ve been like the U.S. Congress, only more Italian.

January is named after the Latin word for door— ianua. Since the month is the door into the new year, the Romans thought Ianuarius was a fitting name. While I’m not inclined to disagree with the dead guys that created the calendar, I must say that I don’t think that January is the most forgiving of months.

I have several reasons for this assessment. First of all, if you’re like me, your body is still recovering from the holiday food onslaught which seems to begin earlier each year. While I eagerly inhale a pumpkin spice muffin in October, by the end of December, my colon makes me drop the damn sugar cookie and back away from the cheese ball. And it really doesn’t take no for an answer. Just like Donald Trump.

I’m sure you feel that post-holiday sluggishness, too. That knot that forms in your stomach when you force down that last stuffed mushroom off the plate. But, you have to eat it, right? It looks lonely on the platter all by itself.

These cold and dreary January days don’t inspire feats of achievement, either. You may tell yourself to go to the gym, but you’re more likely to sit on your ass and watch The Bachelor while wearing the ugly Christmas pajamas your in-laws gave you. No need to hide it, I know you want to see how many girls Nick Viall can shag before the season is over.

Yes, January inspires laziness. Last week it was rainy and gloomy— like much of this month has been— and I decided to drink milk that was three days beyond its expiration date just so I could avoid going to the store. (Don’t worry, I did smell the milk first.)

But, for me, the biggest challenge of the month is of the cold and flu variety. I find it distressing to know that there are enough cooties floating around in January to fill the Hindenburg. It’s not unusual to find me shirking away from hugs and kisses during this time, and cleaning my cell phone with rubbing alcohol and a Q-Tip.

I realize I sound obsessive-compulsive. But, if you only had one functional lung, you’d be just as freaked out as I am. A little cold can quickly turn into pneumonia for the elderly, or disabled folks like me. So, think about that when you venture out into public when you are sick. You never know how far your germs may reach.

And on that uplifting note, have a happy January. But, for goodness sake, wash your hands!