muscular dystrophy

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!

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

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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