Shoes, Spiders and The Perks of Being Me

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While it may not seem like it from the outside, there are definite benefits to being me. There are the obvious ones— preferred parking spaces, event seating in the front (should the venue be equipped for it), and being able to get away with first-degree murder because no one will believe that the perky girl in the wheelchair could possibly poison anyone with arsenic.

Aside from these obvious benefits, there are the not-so-obvious ones, too. Like my shoe budget. I rarely have to buy new shoes because each pair I buy will last a ridiculously long time. This is what happens when you don’t go walking around in your shoes. While Nancy Sinatra may have sung “These Boots Are Made For Walkin’,” she clearly wasn’t talking about me. My boots are made for sitting in my wheelchair while I do things like try not to stain them with dribbled spaghetti sauce. (This is a serious concern. My wardrobe is more susceptible to food-spillage than actual wear-and-tear.)

I’m not ashamed to admit that I still have two pairs of shoes from the 8th grade. I am not kidding. As I know that fashion is cyclical, I’m just biding my time until 90’s chunky heels are all the rage again. If acid-washed jeans can make a comeback, so will my Payless black leather loafers.IMG_3794

If you don’t believe me, I’ve taken this picture of my shoe closet. The average age of a pair of shoes in this closet is 9.7 years.

Anyway, being me is not all sunshine and rainbows. It can be challenging when you get an itch you can’t reach or drop something on the floor and you have to wait for someone to pick it up. Patience becomes a daily practice, an endeavor. It’s not an obscure or unknowable concept — like what the hell is really going on with Trump’s hair.

Yesterday, I had such a challenge. While I was on the phone with my aunt, I felt something weird on my neck. Thinking it was just my hair tickling me, I ignored it. A few minutes later, I felt it again. I looked in the mirror and I saw a spider crawling around on my clavicle… like it owned the place.

To say I freaked out would be an understatement. I hate bugs with a deeper passion than I feel for anything else on this Earth. And that is saying a lot because I really hate manbuns.

Nearly dropping the phone, I went to my dad and shrieked, “THEREISASPIDERONMYNECK! GETITOFFNOW!” With exasperated amusement, he flicked off the spider and it smashed on the knee of my pant leg— leaving a stain on the jeans that would be a reminder for the rest of the day of my traumatizing experience.

In his accented voice, my dad then scoffed, “Bah, eet was juust a leetle bug.

This was a total lie to try to make me feel better. But, I was the one that had it crawling around on my neck like a fucking Land Rover on safari. In my mind’s eye, heavily colored by my assorted anxieties, the spider was NOT little. And it never, ever will be.

I guess being me isn’t all fun and games…

A Breath of Fresh Air

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For a person with Spinal Muscular Atrophy (SMA), like me, respiratory care is a key component to our well-being. The muscles closest to our spines are most effected— while the severity of muscle weakness lessens the further you move out to the tips of the extremities. Therefore, to say that the muscles that control my respiratory system are not great would be a vast understatement. It would be like saying that King Henry VIII only had a slight problem not killing his wives.

You know the satisfaction you get from hocking a really big loogie? Yeah, that’s not so easy for someone with SMA. I would love to easily hock a loogie when the occasion warrants. It’s definitely on my all-time wish list of things to do— which includes marrying George Clooney and traveling back in time to buy stock in Apple when they were still making computers in Steve Jobs’ crappy garage.

As a result of my muscle weakness, I also have scoliosis— which further impairs my respiratory function. In fact, my right lung is so squished that it really doesn’t do much. Despite that, I’m quite surprisingly fond of it anyway. It’s decorative and ornamental— like Melania Trump.

Therefore, keeping colds, viruses and flus at bay are essential. A minor cold that would just make you snuffly for a few days can knock me out for a week or two. And, the specter of pneumonia is always hovering over my shoulder— waiting, watching and listening. Just like Vladimir Putin.

Like many with SMA, I use a BiPAP respirator machine at night while I sleep. While I wear a mask similar to those with sleep apnea, this machine instead ebbs and flows with the rhythm of my breathing— like the tides of the ocean or a politician’s approval rating.

However, this machine is not as soothing as it sounds. It bears no resemblance to the nature-sound CDs that they used to sell at Bed, Bath & Beyond for $9.99. It took me over a year to get used to this damn thing. You know a hurricane? Imagine that in your face while you are trying to sleep. For nearly a year, I vacillated between wanting to throw in the towel and return the BiPAP to the doctor… to getting my dad to run over the f$&@ing machine with a John Deere tractor.

Along with my respiratory gadgets, like my BiPAP, I have an assortment of techniques that I’ve developed over the years to prevent infections:

  • STAY THE HELL AWAY FROM ANYONE I THINK MAY POTENTIALLY BE SICK. This policy is effective, but it causes me to turn into a veritable hermit from November to March… I can make Howard Hughes seem like a contender for Miss Congeniality.
  • IF I MUST BE AROUND SOMEONE SICK, I FORCE THEM TO WASH THEIR HANDS SO OFTEN THAT THE SKIN ON THEIR PALMS SHRIVELS UP AND FALLS OFF. I am not kidding about this. Sometimes I even make them wear a mask. While this may seem excessive, if you were me, you’d do the same. All’s fair in love, war, and microbes.
  • I GARGLE, CHEW AND DRINK EVERY FOLKLORIC REMEDY I CAN FIND ONLINE. Listerine mouthwash gargle? Yes. Apple cider vinegar? Duh, of course. Chew raw garlic cloves until your mouth gets blistered? Definitely. And do these work? I am not certain, but my anxiety likes to think they do.

A few days ago, I headed back to Stanford to see the pulmonary specialist and to finish up the loose ends of my Spinraza evaluation. While there, I saw a kiosk at the entrance of the neuroscience building. It had an automatic hand sanitizer dispenser, tissues, and masks— all in one display case. It was amazing. I felt like a kid on Christmas morning— if that kid was a raging hypochondriac. Since I couldn’t feasibly steal the whole display, like I wanted to do, I took a photo by it instead…

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Here’s to a cootie-free Spring!

Driven To Laziness

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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

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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.
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XOXO

Muddy Habits

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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

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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!

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A New Frontier

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

XOXO