A Cure for Cold Feet

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It’s been a little over a month since my 5th injection (first maintenance dose) of Spinraza. As I was getting over a respiratory virus at the time of the injection, it took a little longer to feel the effects of this latest dose. But, about 10 days ago, I felt a little zing… the burst of feeling when my three SMN2 genes decide to be mini versions of The Hulk— turning from nerdy Mark Ruffalo into a green, CGI shirtless monster.

The muscles in my arms and torso were more responsive and almost… tingly. I often feel the same way if I drink too much red wine— only this time I didn’t have a purple-stained mouth as a memento.

I noticed new abilities. In the winter months, my feet and legs are always cold. So, when I get into bed at night, I have to use a heating pad to warm them up. To stop a person from scalding themselves or setting their bed on fire, my particular heating pad as an “auto-off” feature that activates after about 45 minutes. This is exceedingly annoying. While I’m appreciative of the consideration for my safety, it takes me longer than 45 minutes to warm up. So, I have to press the button on the cord to turn the heating pad back on again.

The past few years, I’ve had a hard time reaching the cord and pressing the button. But, last week, I noticed that I was able to grab the cord more easily, and to press the button more firmly. My icy toes were super stoked by this development.

I also grew hungry again — similar to what I felt at the beginning of my Spinraza journey. I wanted to eat. And I specifically wanted protein. Meat, beans, yogurt, eggs— and oh-so-much peanut butter. I would have slathered peanut butter on a steak if my inner foodie hadn’t cried out in horror, “You aren’t a kookie pregnant sidekick in a romantic comedy! No one wants to see you put Skippy on a filet mignon!

This burst of energy coincided with the arrival of the Winter Olympics. If you know me at all, you’d know that I’m a die-hard fan of the Olympics. It doesn’t matter if it’s the summer or the winter games, I love it all. I watch it ALL DAY. And this isn’t hyperbole. From dawn until dusk, that’s what I do. My life practically stops. I’m like Donald Trump with his Twitter account. Nothing else of any importance happens in my life.

So, this week, I’ve been glued to the TV. I’m not sure if it’s because of the endless hours staring at the LCD screen while listening to the Olympic music, or all the extra protein grams floating around in my body, but I’ve started having delusional thoughts.

What is wrong with that figure skater? Landing a quad jump can’t be that hard.

Every Norwegian baby comes out of their mother’s uterus wearing tiny skis.

I bet with just two or three more years of Spinraza, I could totally do Olympic Curling.

Now, this doesn’t make any sense. And it has no basis in reality. But, this doesn’t mean that I didn’t think it.

Perhaps it’s a good thing that the Olympics only come around every couple of years. These delusions aren’t good for me. Frankly, if they continue much longer, I might become convinced of something truly crazy. You know, like that North Korea is a magical place where a man named Kim Jong Un gives hot fudge sundaes to everyone that comes to visit.

Unfortunately (but, secretly, amazingly!), my friend Joahn sent me this Olympic scarf two days ago in the mail— which has only fueled my obsession. I wear it around the house while I watch the Olympics and eat hummus. If you look close enough, you might see crumbs on it.

I think I’m a lost cause.

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How To Survive A Shutdown

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I really wish this was an article about the government shutdown. It would be a lot more satisfying to spend the next 1200-odd words comparing members of Congress to the small, misshapen toadstools you find in the pond next to a toxic waste dump. I mean, they can’t expect us to praise them for failing to do their actual job, right? Last time I checked, if a person couldn’t demonstrate any real skill or talent, they’d get fired. (*This rule doesn’t apply to Kardashians, or other reality television stars— including Donald Trump.)

No, this isn’t about a government shutdown. Rather, this is about another shutdown of a far more frightening sort. The kind that makes your hair turn white and causes you to question your own mortality.

Yes, it’s a wheelchair shutdown.

I have one of those custom motorized wheelchairs— the kind with oodles of special features designed to maximize my comfort, independence and mobility. This thing has a personalized seating system, a reclining feature, and six tires that allow me to turn in a small enough space to fit at least 4 or 5 Olsen twins.

This is handy so that I can get into smaller areas like a bathroom or a pantry— where I can grab a box of Cheez-Its without waiting for someone to do it for me. Anything that makes it easier for me to grab food to stuff into my face is a huge, valued part of my life.

Anyway, these wheelchairs are designed specifically for each patient. From the dimensions of the seating system to the height off the ground— it’s all perfectly designed to me. In fact, even the NASA-inspired honeycomb seat cushion is created to fit my buttocks. It’s like a designer Gucci purse for my ass.

While this may sound extravagant to some, if you had to spend 12 hours a day sitting in one chair, it had better be amazing. Not some piece of shit you bought at a garage sale.

These specialized chairs are not interchangeable. If something goes wrong with my wheelchair, I’m majorly… well… fucked. I can’t borrow a wheelchair to use until mine gets fixed. There’s no Hertz Rent-A-Car for custom wheelchairs.

I think you can sense where I am going with this, right?

A couple of weeks ago, a fault message appeared on the screen of my joystick— “Right Motor Fault.” I had just gotten into my chair and the morning had been bright with promise. I had a caramel vanilla coffee waiting for me and a whole list of things planned for my day. It was going to be GREAT. The kind of day where I accomplished a lot of paperwork— yet still had time to make a pot of chicken noodle soup and watch two or three episodes of The Crown on Netflix. Yeah, it was supposed to be that kind of day.

But, upon seeing that error message on the screen, my mood immediately plummeted. It went from GREAT DAY to… JESUS, MY LIFE IS OVER.

You see, my chair would not move.

Heart pounding, my mind began to race. I turned off the power, let the wheelchair sit for a moment, and took 3 deep breaths so I wouldn’t hyperventilate. Then, I tried the chair again. This time, the motors activated and moved.

While you may think I was ecstatic, relieved, joyous— I decidedly was not. My relief was measured, cautious— for I knew that a motor fault error was a sign of impending doom. Like a meteor heading to Earth or a Black Friday sale at Best Buy. Someone—somewhere— was going to get screwed over by a 60’ LCD television for $180. And that person was me. It was inevitable.

This was the third set of motors I had installed on my wheelchair— even though the chair is less than seven years old. So, I knew all the signs. The cheap toys in a McDonald’s Happy Meal have a longer shelf life than my shitty motors. You’d think that a manufacturer of a beautifully designed wheelchair could manage to put well-engineered motors on it, too. But, no.

I guess we cripples can’t be choosers.

For the next couple of days, the specter of malfunction hung in the air— I knew the motor error would happen again, it was only a matter of time. So, I did what any organized, thoughtful person would do. I called my local wheelchair company to give them a heads-up that sometime in the next week, or so, my life was going to go down the toilet.

Then, I called my doctor to have him fax a prescription for “motorized wheelchair repair” to the aforementioned wheelchair company. Yes, the prescription really does say that. Who knew that prescriptions weren’t only for antibiotics and Lipitor… or, if you’re Bill Cosby, then Quaaludes?

These repair parts take time to come in, so I knew I needed to get the order in pronto. Stat. ¡Muy rápido!

I also knew that there was no way in hell that my current motors were going to last until their replacements arrived.

And, I was right. A few days later, after sporadic functionality, my chair stopped for good. ‘Right Motor Fault’ had won.

I had to be pushed around in my chair like a giant cart of bottled water at Costco. Or one of those pathetic drivers that runs out of gas and gets stranded on a freeway.

I couldn’t do anything.

My life stopped.

You know the old saying that sailors have a potty mouth? Well, even the shadiest pirate in 1790 had nothing on me at this point. I was a bundle of anxiety and curse words. I couldn’t say one sentence without at least two to three versions of the word ‘fuck’ in it. As a verb, adjective, adverb— I’m not sure there was a part of speech I didn’t use.

Then, once I had exhausted myself, I called the local wheelchair company in tears a couple of times. It wasn’t pretty.

Some old smart British dude once said, “Necessity is the mother of invention.” I think anger and rage also are, too. After a hunt in my garage, we found an old set of motors that had been leaky (but functional). So, we swapped the leaky right motor for my dead one and said a prayer to the Broken Wheelchair Gods.

It worked. And the chair continued to work for another week until the new motors arrived from the shitty motor factory in The-City-Shall-Not-Be-Named, Ohio.

But, that week was still pure torture. I’d get up in the morning, get into the chair, and I’d feel my heart rate go up by about 20 points before turning on the joystick. Each time the motor fault error didn’t appear felt like Christmas morning all over again. Not the Christmas morning of recent years (you know, as a boring adult), but the Christmas morning of childhood— when Santa brings you a big box of Legos or a My Little Pony with glittery, purple hair.

Yes, it really was that good.

Now that this current crisis is behind me, though, it means that I must start thinking about the process of getting a new wheelchair sometime soon. Given how precise and perfect the seat and chair must be, you can understand how I might approach this with dread.

I’m sure I’ll be writing about the process in the coming months… so, stay tuned.

Keep your fingers crossed that these motors don’t die first, though.

At the rate I’m going, it’s not looking promising…

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Boogers, Rainy Days & Surviving Dose #5

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It’s been well-documented that, like many with Spinal Muscular Atrophy, I’m a verifiable germaphobe. If a person could earn a certification in Cootie-Evasive-Techniques, I’d have a damn Class A license. The kind that people stand in line at the DMV for 3 hours to get.

Strike that. There’s no way in hell that I could go to the DMV and stand in line for three hours. I once heard someone cough up their gallbladder at the DMV. There are enough germs in those offices to keep the Centers for Disease Control busy for at least 6 or 7 months. Eww.

So, yeah.

Anyway, if you’ve been following my Spinraza journey, you’d know that the date for my first maintenance dose had been fast approaching. Given the importance of these spinal injections, and the set schedule of receiving them, it’s vital that nothing interfere with a dose.

Nothing.

Not even a plague of locusts, a doomsday asteroid or a Buy One Get One Free sale at the GAP.

Seriously. I don’t care how much I love those long-sleeve tees.

Given that we’re in the midst of a raging cold & flu season, I’d been paranoid that I would catch a bug prior to my Spinraza treatment. This fear paralyzed me for weeks. I avoided going out in public places, I tried limiting my interactions with family and friends. I basically became a hermit. Like the Unabomber. Only I didn’t try to build explosives out of fertilizer, chicken wire and cherry-flavored bubblegum. (Yes, I remember the show MacGyver.)

But, then, Christmas happened.

And, I really, really like Christmas.

You can probably guess what happened next.

Yup— I caught a respiratory virus.

The symptoms started about 10 days before my Spinraza injection. It wasn’t long before I had a river of fluid coming out of my nose. I’m sorry to be so graphic, but I have very little filter when it comes to these things.

After consuming my first box of Kleenex, I began to notice something. I felt a burst of joy— and not all of it was because of my low-grade fever.

You see, I was able to blow my nose harder than I had been able to do for a very, very long time. Like years. At least since the Bush Administration (the 2nd dude, not the 1st dude). I was able to blow so hard into the Kleenex that my ears actually popped.

This may not seem like a big deal, but before Spinraza, I couldn’t do this. Nasal drainage would simply slither down into my lungs, and I would struggle for weeks to get all the damn stuff out. This was a striking difference.

This development invigorated me. I wasn’t going to let this piece-of-shit virus get in the way of my Spinraza treatment. After all, I clearly needed more of the stuff so I could keep ejecting all those boogers out of my nose.

So, armed with antibiotics, breathing treatments, and a fuck-ton of garlic (seriously, I smelled SO bad), I made it through that week to Spinraza Day.

The early morning arrived and we were greeted with the first rainy day in, like, months. So much rain hit California that all the dirt decided to just turn into rivers and carry folks away. Not cool.

Luckily for me, even though the visibility was dodgy at times, we slowly made our way over to Stanford— safely. Upon arriving, I began to get nervous.

Could I sit still during the procedure without having to cough or blow my nose? After all, moving or twitching while two doctors inject a giant needle into your spinal fluid really doesn’t sound like a good idea. Just like buying sushi from the back of a van isn’t a good idea.

After checking-in and getting settled into the room, the nurse told me that the Spinraza Gods had blessed me once again. The same amazing duo that did my last procedure were back for the day. It felt like the rainy heavens had opened up and a damn Puccini opera was playing just for me.

YAAAASSSS!

In case you’re wondering why I was so excited, here’s the deal: there’s no way to know which doctors will be on-call that day. Stanford is a teaching hospital, so the rotations are random and unexpected. The time this procedure can take varies widely— depending upon the doctors. The longer the procedure takes, the more painful and arduous it becomes.

And these two doctors didn’t disappoint. They had the needle in so quickly, that I didn’t even have time to cough or blow my nose. It was glorious.

The rainstorm continued on the drive home, but I was so delirious with relief that I didn’t even mind. I was exhausted. Spent. Relieved. And, yes… slightly full of snot.

I get a little break before my injection, so I will enjoy these months— hopefully without viral invaders.

Wish me luck!

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xo

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Spinraza: One Year Later

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One year ago, the folks at Biogen and Ionis dropped a festive holiday morsel that created a firestorm in the neuromuscular community. They had marketed and developed the first-ever treatment for Spinal Muscular Atrophy… and the FDA had approved its use for all ages and types of the rare, genetic condition. It was like Santa Claus had dropped a major bag of loot down the chimneys of families and individuals with SMA.

If you’ve been following my blog this past year, you’d know that I am one of the lucky ones blessed with these really fucked up genes. Since I lack copies of the SMN1 gene, my body doesn’t produce enough of a specific protein that allows for muscle growth and maintenance– hence, why I have Spinal Muscular Atrophy. Instead, my body has 3 copies of an alternative gene, called SMN2, which can produce very limited amounts of this essential protein. These backup genes are called ‘backup’ for a reason— they aren’t very good at their job. They work at a slow, meager, and inconsistent rate. Like politicians in Washington D.C.

Yet, these backup genes are why I am currently still alive… and why I didn’t meet St. Peter as a toddler sometime during the Reagan administration. Yet, I am one of the fortunate ones… this shitty, progressive disease has taken many young infants, children, and adults over the years— including my own brother as a baby.

This is why the development of Spinraza (nusinersen) was so revolutionary. Science had finally offered a treatment for what had previously been untreatable. You know those sad, pathetic backup genes I mentioned earlier? Well, Spinraza targets those SMN2 genes and BAM! tricks them into producing more protein. It’s like giving them steroids— only it won’t result in a shrunken penis… or expulsion from the upcoming Winter Olympic Games (yes, I’m talking about you, Russia!).

It’s important to note that Spinraza isn’t a cure. But, when you live your life knowing that with each year that goes by, you’ll get weaker, even the prospect of stability and maintenance of strength is a victory. That could add years to our lives and make everyday just a little easier— you know, just like GPS and the Swiffer Mop.

I began my Spinraza journey soon after the announcement of its FDA approval. Yet, it still took months to navigate all the hurdles to qualify for this treatment. It was a stressful, hopeful time— like the gestation of a baby… or waiting for a poop to come out of your butt after you’ve been constipated. But, in July, the magic day finally came— my very first injection at Stanford Neuroscience.

Very quickly after that first treatment, I began to feel little changes and improvements. Neck and torso muscles tightened… My voice grew louder, more robust… cuss words were easier to shout— I could even trail them together with appropriate adverbs. It was awesome.

My grip and range of motion in my hands improved. And, when I had my follow-up evaluation after my 4 loading doses, the numbers did show that these improvements weren’t just all in my head. (Even though a great many other things are in my head!)

As I’m an adult in my thirties, my results will never be as dramatic as those currently being seen in younger kids and teens. But, as my neuromuscular specialist, the estimable Dr. John W. Day at Stanford, told me, “Our goal with adults like you is to halt progression of the disease. With SMA, that is a victory. Anything above simple stabilization is icing on the cake!

I head back to Stanford in a few weeks for my first maintenance dose of Spinraza. I feel fortunate to be able to receive this treatment. More fortunate than many realize. After all, there are many, many others with SMA (both here in the US, and around the world) that have not been able to do so.

Given the specialized nature of this treatment, the exhaustive research that went into it, and the limited number of folks with SMA, the price for the drug is very high.  The drug companies have to recuperate their expenses and make some kind of profit— otherwise research into rare diseases, like mine, won’t ever happen. And, as we all know, money makes the world go ‘round.

The price tag for the first year’s doses of Spinraza, at $750,000, more closely resembles that of a really large house… or the salary of a mediocre NFL player. (Unlike NFL Commissioner, Roger Goodell, who has somehow convinced people to pay him hundreds of millions of dollars for doing nothing more than making Americans spend their time and money on a sport. A game where grown men wear stretchy pants and slam into each other until they get too many concussions and eventually have to retire to eat soup through a straw.)

Anyway, the high price of Spinraza has caused American insurance companies, and international government health organizations, to limit access to the treatment. They are using a variety of parameters to reduce the numbers of eligible recipients— including age, SMA Type, SMN2 gene copy number, and hair color. (Okay, I might have made that last one up.)

But, the more folks they deny, the more money they save.

This has been devastating to families and individuals with Spinal Muscular Atrophy that have been unable to receive Spinraza. To know that this drug exists (the only treatment available), and to be unable to get it, is a mindfuck of epic proportions. And, with each day that goes by, these individuals will get weaker. And some of them will die.

As we mark Spinraza’s anniversary, I am left with a couple final questions…

What is the value of a life? What is the value of a life… like mine?

I don’t know the answers to those questions… and I’m not sure if they should even be answered. But, plenty of bureaucrats seem to be doing that right now.

And many folks with SMA are falling short of the price.

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A Germaphobe’s Guide to the Holidays

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I love everything about the holidays. The music. The food. The carbs. The festive spirit that makes even the dumbest Hallmark movie seem quaint and charming. While I eschew The Hallmark Channel for the other 11 months of the year, for these few weeks, I tolerate the weak plot lines, terrible acting, and the tons of synthetic snow they import from China. I suspend my cynicism and convince myself that this stuff is A-OK— you know, just like Matt Lauer did with his overactive penis.

Anyway, while this season heralds many wonderful things (the extended holiday selection at Starbucks being one of my particular favorites), not everything about this time of year is so great. Yes, I’m talking about all the cold & flu viral cooties that float around faster than Hallmark’s plastic snowflakes. For the average person, this is only a minor annoyance. Perhaps some sniffles here and there, and odd sick day from work. Nothing that Tylenol Cold and a shot of whiskey can’t handle.

But, for someone with spinal muscular atrophy, like me, a minor cold can turn into fucking Armageddon. Like the kind with Bruce Willis and that damn asteroid. Or the kind that wipes out all the dinosaurs on Earth—except for Barney… and Larry King.

So, to call me a germaphobe would be a vast understatement. It would be like calling Einstein merely ‘clever’ or saying that Donald Trump just ‘somewhat likes’ using hairspray.

I am a full-fledged germ freak. If I hear someone cough or sneeze, my ears suddenly morph into the radar of a Navy submarine. I quickly determine the distance between me and the sick person, and if I need to undertake any evasive maneuvers like Sean Connery in The Hunt for Red October. I will burrow into the ocean floor if need be. Don’t think I won’t.

If they’ve done something especially stupid, like cough directly into their own hand (instead of the crook of their elbow), I’ll glare at them maliciously while I catalogue every surface that they touch with their virus-ridden hand.

Yes, I really am that bad.

And, yes, it really is stupid to cough or sneeze into your own hand. You should always cover your face with your arm, instead. Less chance of spreading the virus to others.

Anyway, given the respiratory weakness of those with SMA, it is very difficult for us to keep our lungs clear. It is harder for us to cough. Harder for us to blow our nose. So, the drainage that might only be an annoyance to you, can become dangerous to a person like me. It can settle in our chest and potentially cause serious issues.

If I do get sick, I have to be very diligent. I vigorously use my respiratory devices (BiPAP, nebulizer, and CoughAssist) to prevent any complications. Under the best of circumstances, it can take me at least 10 days to 2 weeks to get over a mild cold. More serious illnesses can knock me out for even longer.

As happy and joyful as the holiday season is for me, it can be difficult, too. To the average person, an invite to a holiday cocktail party is immediately accepted. After all, who doesn’t like eggnog and a free selection of crackers and salami?

But, for me, deciding to attend the party would be a gamble. Like playing Russian Roulette or marrying a Kennedy. As much as I love eggnog (which, I do!), I must weigh that against the fact that at least one or two dipshits will probably attend the party even though they are sick and should stay home. Do I want to risk that they won’t sneeze near the salami? Do they know how to properly wash their hands?? What if they actually try to hug me???

Oh, the horror.

This kind of analysis runs through my head with every holiday invite that I receive. Before accepting anything, I quickly consult my calendar to make sure I have nothing important to do for the following two weeks after the event on the off-chance that some fuckhead gets me sick.

You can imagine why it might be easier for me to sit at home this time of year and watch badly-written Hallmark movies, instead. Fake snowstorms are far more palatable than hacking up part of a lung.

Nonetheless, it also isn’t healthy for a person to hide away in their house like the Unabomber. So, I try to venture out from time to time… armed with plenty of Purell, of course.

But, if I turn down an invite to your holiday event, please don’t take it personally. This doesn’t mean that I don’t like you, or that I hate salami… or eggnog. It just might mean that I’m worried your other guests might be carriers of the bubonic plague or some other horrible disease.

So, yeah… nothing personal.

Happy Holidays to you all!

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Nutcrackers, Holiday Decorating & All The Lies We Tell

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Around three weeks ago, I was in a store and holiday music was already playing. Even though I snorted in disgust at the prematurity of it all, that didn’t stop me from admiring a collection of miniature Christmas trees roughly the size of Kevin Hart. You’ll be happy to note that I didn’t buy one, but I seriously considered it.

That set my mind into motion— into thinking about the holidays and when I’d put up my own decorations this year. I always tell myself that I’m going to wait until after Thanksgiving, but that never seems to happen. It’s more what I tell other people if they ask me when I put up my Christmas decorations. I always chirp, “Oh, I wait until after Thanksgiving.” But, in reality, I’m secretly hunkering down in my house around November 15th with empty nutcracker boxes strewn all over my dining room table and a rim of peppermint mocha residue around my lips.

It’s one of those secrets that we all keep and then lie to others about. You know, like how many times a day we floss (which is never), how many times a week we empty the lint compartment in the dryer (which is not enough) and if we wash our hands after we blow our nose (which should be all the time, but never is!).

When you are disabled, like me, you have to rely on others to help you put up your Christmas tree. You have to cajole and charm someone into climbing into the recesses of your garage to pull out the 7.5 foot plastic tree crammed in a cardboard box large enough for Kim Jung Un to stuff at least two dead bodies.

I’ve had the same artificial tree for quite a few years now. I don’t like having a real tree. It’s too much commitment. I have a hard enough time remembering to water my two houseplants, I definitely don’t have time to attend to a needy spruce tree. Plus, I don’t want something that will drop needles and crap all over my living room floor. If I wanted that, I’d just borrow a toddler.

Each year, there’s always a big moment of dread right before turning on the Christmas tree lights for the first time. That sinking feeling of wondering if this will be the year that it finally takes a giant poop. I’m sure I don’t need to describe this feeling any further. After all, if you’re a San Francisco 49ers fan, you feel this nearly every week.

Anyway, the last couple of seasons, my tree had begun to show its age. The lights began to dim, and large segments of the tree would randomly go dark, only to perk up again hours later. So, this week, I decided to take the plunge and get a new one. My new tree seems okay so far, but the branches were so smashed from being in the box on the long journey from China that the branches required considerable fluffing to stop them from resembling large marijuana joints. I suppose that’s one benefit to real trees, though— they are already fluffy.

However you may spend this holiday weekend, have a safe and happy one. If you need me, I’ll be here fluffing my tree, consuming large quantities of stuffing, and canoodling with my nutcrackers.

IMG_4507 (2)Happy Thanksgiving!