Adventures in Physical Therapy

Given that I’ve had a disability my entire life, you’d think that I’d be fully-immersed in all medical-related things. But, that’s just not true. For example, despite my love for WebMD and Wikipedia, I’m not familiar with every pharmaceutical brand on the market. I don’t know the best medication for type 2 diabetes or psoriatic arthritis. But, from the commercials that I’ve seen on television, each of the available medications have potential side effects that include temporary blindness, liver damage, suicidal thoughts and/or heart failure. It’s an uplifting assortment of options.

Anyway, while I do know a lot about stuff related to Spinal Muscular Atrophy (SMA), there’s a lot of other things that I don’t know. Stuff that, as an outsider, you’d think would be an everyday part of my life.

Like physical therapy.

This statement might come as a bit of a surprise. You might be thinking, “You mean the crippled girl doesn’t go to physical therapy every day? What a slacker! How does she expect to get better if she doesn’t do that??”

Here’s the thing: until I began Spinraza treatments last year, the expectation that I could maintain or improve my strength was pretty much a non-starter. An impossibility. A don’t-even-dream-about-it kind of thing. You know, like thinking that Kanye West will ever not be super weird?

This isn’t to say my physical therapists in the 1980s didn’t try their damndest to make this not be so. Defying the laws and biology of SMA, my childhood therapist pushed and shoved me into standing boxes to straighten my curving back. They placed heavy, painful weights on my legs and hips to try to reverse my irreversible muscle contractures. They tried to push my body into doing things that it just simply couldn’t do. They weren’t intending to be cruel, but their understanding of SMA at this time just wasn’t very advanced. They pushed more than they should have. They expected more from me than I could physically deliver. They were doing what they thought was best, though. But, these good intentions didn’t mean that this period of my life still wasn’t an utter hell on earth.

My confidence took a beating at this time, as well. It was hard not to feel that way when my inability to continue to participate in these physical therapy sessions was seen as a result of my laziness– and not the natural progression of my disability. The fault was with my motivation and my drive. Not the fact that it was an excruciating torment to endure… with no progress to show for it. In fact, the opposite happened. I progressed anyway. As all of us with SMA have done. It’s biology. Not laziness.

It’s perhaps not surprising that I eventually became withdrawn during these physical therapy sessions… and then increasingly uncooperative. Finally, it got to the point where during designated therapy time, I would hide in corners of the elementary school so the therapist couldn’t find me.

It was the biggest act of rebellion I had ever pursued up until that point. And it was also a moment in my life when I felt the most unheard.

Those gut-clenching moments remain with me to this day. I’ll always be that anxious little girl in the school physical therapy room, even though it was over twenty years ago.

So, it is with the baggage of those memories that I’ve recently reentered the world of physical therapy. My revolutionary Spinraza treatments have led to some small improvements in my strength and stamina. Which, given the progressiveness of SMA, is fucking awesome.

As I’ve written here before, I’ve been doing some informal exercises at home since beginning treatment. And it’s been very helpful. But, my Stanford medical team advised me that it was time to take it up a notch. So, I was referred to a local physical therapist to develop a custom exercise plan.

Yesterday was my very first consultation. I’m not gonna pretend that I wasn’t nervous. That I wasn’t worried that the physical therapist was going to push me too far beyond my ability because he didn’t have an understanding of SMA (like my old therapist all those years ago). Or, that I wasn’t dreading the whole experience… the way Trump dreads a wind tunnel.

So, what did I do? I did what any self-respecting Type A person like myself would do. I obsessively prepared for my appointment by typing up an information sheet for the therapist about me, about SMA, and why I was there in the first place. I also harassed the receptionist with warning calls that I would perhaps be a high-maintenance patient. Not like the everyday car accident victims and torn rotator cuff patients that they saw everyday. I would be a whole bundle of crippleness. The person that, when presented with a new patient form, would circle the ENTIRE BODY as an indicator of where I’m having trouble.

I’m sure my neuroses were quite evident in my voice on the phone. And I’m certain that this left an impression on the poor receptionist because when I rolled into the office, she instantly called me by my first name— despite the fact we had never met.

I filled out more medical history forms. And I had to resist adding smart-ass remarks in the margins. How could I not answer the question “How long have you had this issue?” with a sarcastic reference to the Reagan Administration?

I only have so much willpower, after all.

When the physical therapist, Robbie, came over a few minutes later, though, he was remarkably calm. And, despite my fears, he didn’t look like a deer in the headlights when faced with probably the most disabled patient he had ever encountered.

I wasn’t a truck driver with a case of whiplash. I was a whole-lotta-weird with muscles that behaved in ways you wouldn’t expect. (Come to think of it, also kinda like Kanye West.)

Robbie quickly admitted that he had never encountered SMA before. (Most medical professionals actually haven’t– this is not unusual.) But, that fact didn’t stop a gleam of excitement from entering behind his eyes. I recognized the same look in his gaze that I would get back in 1990 when I got a brand new set of Legos. The look that Ina Garten still gets when you flop a freshly-caught, raw sea bass on her kitchen table.

The look that says: “Oh, boy! This is way more fun than a hip replacement!”

I’m happy to report that he asked all the right questions… he was engaged and interested. And incredibly collaborative. It was just the experience that I had been hoping it would be.

I was being heard.

And, for that, I was so very grateful.

For the time being, I’ll be heading to physical therapy once a week, so stay tuned for more updates on my progress. I can’t believe I’m saying this, but I’m strangely looking forward to it!

I do wish there was a way that I could have told that to my ten-year-old self, though. That the experience didn’t have to be the way I endured it… and that it could have been much, much better.

Maybe then I wouldn’t have had a reason to hide.

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August Awareness and Lots of Stretchy Pants

August is known for many things. Even though most summer vacations are ending, it’s still a month when the heat is blistering and the yucky air has that palpable, tangible quality… like an dog’s fart. Also, schools open this month and all the pumpkin spice food products will begin to appear in stores.

If you think it’s too early for it, you aren’t alone. Even though I have a well-developed love for pumpkin spiced lattes, I don’t want to drink one while it’s still 100 degrees outside. I don’t care if there’s a chance that my sweat could smell like an autumnal wonderland. It’s still not worth it.

August is also Spinal Muscular Atrophy Awareness Month. The month that celebrates and brings awareness to the 1 in 10,000 babies born (including me!) with a really peculiar— and often deadly— genetic glitch called Spinal Muscular Atrophy (SMA). While the condition is rare, 1 in 50 people running around this earth are actually genetic carriers. But, since it’s a recessive condition, it takes two of these carriers getting together to produce a child with SMA. Even then, only 25% of children of those unions will even have the condition.

If you are confused by this scientific explanation of recessive genetics, you weren’t fortunate enough to have had the late Mr. Eugene Field as a biology teacher at Patterson High School. I feel sorry for you if you missed out on his amazing greatness. I guess you’ll have to make due with looking it up on Wikipedia, instead.

Anyway, until very recently, a diagnosis of SMA was practically a death sentence. While advancements in medical care have allowed many of us to beat the odds and thrive long into adulthood, there was really nothing science could do to treat the condition itself. But, that is changing. For the past year, I’ve been receiving a gene-splicing treatment called Spinraza that boosts my production of a protein that my body is lacking. I’ve written extensively about my treatment journey on this blog. I’m happy to report that more treatments for SMA are on the horizon in the coming years, too.

Awareness months, like this one for SMA, serve an important purpose. They garner attention to the cause and provide a catalyst for fundraising. Many other medical conditions and diseases have their own awareness months, too. I’m sure many of you have taken part in such events. And that’s fantastic. After all, these are vital tools for generating donations for research. But, while raising money for a “cure” is very important, we mustn’t forget that we have to also support those living with these conditions, too.

We have to make sure that there are services and infrastructures available to help those currently living and fighting these conditions— and their families. As someone on the other side of this, I must say that I occasionally cringe a little when I see so many fundraising efforts with simple, pithy titles about running and walking for cures. Sometimes I feel like they miss the point. After all, before we can get to the moment when someone could possibly be “cured,” there will be a lot more time spent with the person needing support and helpful resources.

Let’s be honest, from a practical point-of-view, a “Walk for a Cure” isn’t really going to do a patient much good if they don’t have a way to get to their doctor appointments. Let alone if they don’t have personal care assistance in their homes or even nutritious food on their table.

And, I don’t mean to be a killjoy, but you know that 5k Run for Cure you did last year? The one where you wore those new $85 running pants from Lululemon? Yeah, that run is probably not going to help that rural woman in Kansas afford the pharmacy copay on the anti-nausea pills that she needs during chemo.

I don’t mean to imply that these fundraising efforts are useless. Nothing could be further from the truth. These events and funds are incredibly important. So, keep on running in your crazy expensive stretchy pants. But, while you’re doing it, remember that there’s more that we can do.

Awareness means more than a “cure.” It’s about living in community— together. Helping each other. Whether it’s August, or any other month of the year.

Until then, Happy August… and happy running.

xoxo

Happy Spinrazaversary to Me!

One year ago, today, I had my very first spinal injection of Spinraza— the first-ever FDA approved treatment for my disability, Spinal Muscular Atrophy (SMA). Life was a lot different one year ago. First of all, I was worth a hell of a lot less money at that point. My spinal fluid didn’t have 6 vials of super-sonic, super-expensive Spinraza floating around inside of it. You know, the way the miniaturized Dennis Quaid floated through Martin Short’s body in the 80s movie, Innerspace? One year ago, I was a body that was decidedly pre-bionic. Dennis Quaid’s tiny spaceship would not fly out of my nose if I sneezed. Now, however, I wouldn’t be surprised if my boogers had diamonds inside. Yes, I’m that pricey now.

As I have shared here previously, it was a long, hard-fought battle to gain access to this drug, and I’m lucky to have a spectacular medical team at Stanford Neuroscience that helped to make this possible. I wish I could say that all adults with SMA have such outstanding advocates for care as I do. But, we still have a long way to go to make this current treatment, and all the upcoming treatments coming down the pharmaceutical pipeline, available and accessible to all those living with my rare, genetic condition.

But, my Spinraza journey didn’t end at the point of that lumbar puncture needle one year ago today. Rather, it really had just begun. Given the complexities of getting the long needle through my crooked, and fused anatomy, each injection since that July day has been a tiny battle of wills. A mental and physical game where I prepare like a seasoned warrior. A soldier that knows that the upcoming battle could be a smooth victory just as easily as it could be a giant shit show. You know, like a Trump/Putin press conference?

However, these hardships (and there have been many!) have been worth it. In the 365 days since that magic vial’s liquid have begun to do their work, I have had measurable improvements. Given that this neuromuscular disability is progressive, even merely slowing or halting the natural deterioration is a victory. To have improvements, like I have seen, is more than I could have hoped to achieve. Especially as an adult with SMA. I had never thought I’d live to see a treatment that could help me. It’s hard to mentally process… to put your brain around. You know, just like it’s hard to process pickle-flavored ice cream, self-driving cars, and why the hell we Americans can’t figure out the metric system.

I look forward to what the future holds for my Spinraza journey, yet, I eagerly anticipate what medical science has in-store for those of us, of all ages, with SMA. I’ve heard that there are more treatments currently in the trial and research phase. Perhaps, one day, I will have additional cause to celebrate.

Until then, if I sneeze, please excuse the diamonds.

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Boogers, Rainy Days & Surviving Dose #5

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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Hurricanes, Pregnant Pandas & Kardashians

It’s been an intense 9 months. Between qualifying for the nusinersen treatments, waiting to get the ‘greenlight’ to begin injections, and then enduring the hectic schedule of getting my first four loading doses, it’s been a crazy ride. While Hurricane Spinraza was slow to arrive, it gained speed at the end and has packed quite a wallop. A positive, encouraging wallop… but, a wallop just the same.

Perhaps it’s too soon after Harvey, Irma, and Maria to make hurricane metaphors— but, I’m going to do it, anyway. If President Trump can pitch paper towels into a crowd of desperate Puerto Ricans like a carnie at a state fair, I guess anything goes.

Physically, receiving these injections isn’t easy. There’s discomfort, soreness, — and yes, sometimes pain— from the actual treatments themselves. There’s the exhaustion from the long traffic-ridden drives to and from Stanford. It’s a physical challenge. Surprisingly, though, an additional improvement that I noticed after beginning my injections? My residual soreness/pain resolved itself more quickly with each and every treatment. My body felt just a little tougher each time.

Despite the physical challenges, very few people discuss the emotional challenges of this Spinraza journey… especially for those of us that have lived with spinal muscular atrophy all of our lives. So much energy, especially by medical professionals, is focused on our physical health, that our emotional health can be neglected. But, these needs are just as important. The last nine months have taught me that.

Those of us with SMA are expert jugglers. We balance many things in our lives… work/school, family obligations, friends and the management of our care needs— all while keeping track of the pregnant Kardashians. Which is seriously hard work. I keep waiting for one of the reality stars to put up a live pregnancy camera in their house. You know like the zoos do when they have a pregnant female panda? And everyone livestreams the zoo camera online in the days leading up to the birth in the hopes of catching a glimpse of the pink squirming glob that comes out of her panda uterus?

Yeah… that.

(Think of the ratings, Kris Jenner… just think about it.)

Anyway, we SMAers can handle a lot. It’s challenging to juggle our usual tasks— but, we do it. Because we have to. But, when you add in the giant, heavy ball that is Spinraza, it’s impossible for us to keep all the other stuff in the air without dropping some shit on the floor. This is unfortunate because I literally can’t pick up any of the shit I drop on the floor. I have to wait until someone comes and picks it up for me.

After my last loading dose, I physically and emotionally crashed. I went into hibernation— like one of those mama bears that Sarah Palin rattles on about. For about a week and half, I didn’t want to do ANYTHING. I wanted to drop all my juggling balls and sit in the corner and watch episode after episode of the Gilmore Girls. Because if anyone could fix my problems, it was Lorelei Gilmore.

So, I wallowed. And stewed. And fretted. And took some Xanax.

This went on for a while. But, then it started to fade away. I felt the muscles quivering in my arms— reminding me that I had $500,000 swirling in my spinal fluid. It was time to get to work. I had fucked around for long enough.

I started exercising my arms, wrists and hands— with stretches and small weights. I began lifting things more easily than I had done in a while. While in the car, I held a water bottle to my mouth and drank (without a straw!). I lifted a one-pound bag of dried split peas from my lap to my desk— something I hadn’t been able to do at my physical evaluation at Stanford in February.

Things were happening.

So, now I’m trying to make these things part of my routine. I sit at my laptop (while I’m watching Netflix), and do my weird exercises. I’ve discovered that music isn’t my motivator… but, good o’ streaming TV does the trick!

Just maybe not a live Kardashian cam…

There’s only so much a person can handle.

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xoxo

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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

Two Weeks Later…

It’s amazing how much can change in two weeks. Wars have been fought and won in a shorter span of time and, if you are a believer, than the entire world was created by the Almighty in a mere 7 days— including, Adam, Eve, snakes, assorted shrubberies, and the Fuji apples you can buy at Savemart for $1.29 a pound.

And if all that wasn’t enough excitement, I also made the front page of the estimable Patterson Irrigator newspaper― instead of my column’s usual spot on page 5, or 7. So, yeah, a lot can change very fast.

Two weeks ago, I had my first injection of Spinraza. (For those of you that haven’t been following my journey, you can read my past writings on this topic HERE.) It wasn’t long after that initial treatment that I first began to feel that magical little $125,000 serum at my work in my spinal fluid— like busy Oompa Loompas toiling at Willy Wonka’s factory over a steaming vat of marshmallow cream.

The night following the injection, I woke up at 2am absolutely starving— like I hadn’t eaten anything for days. If you know me at all, you’d know this is an impossibility. There are few things in this life I love more than food. And if I could think of what those things actually are, I would write them right here.

I spent the next 3 days basically eating everything that wasn’t nailed down— especially things with protein. I was like a mama grizzly bear that hadn’t seen food since she went into hibernation last December. A real grizzly― not the fake ones that Sarah Palin seems to find everywhere she goes.

To give you an example, after already consuming breakfast, lunch and three snacks, one afternoon around 4pm I got hungry again and began casting my eyes around my kitchen. My radar settled upon a pouch of cashew nuts on the counter. For a few minutes, I attempted to open the reusable zippered fastener on the pouch. But, I quickly grew impatient and annoyed when my not-strong-enough fingers couldn’t open the lip. Undeterred, I grabbed my purple Crayola kid scissors (the only kind that I can use without hurting myself) and proceeded to desecrate the thick pouch until I had wormed a two-inch hole into the plastic. As the soothing scent of roasted cashews wafted up to my nose, I knew that victory was at-hand. THE CASHEWS WERE MINE!

This inexplicable hunger, this rabid feeding frenzy, culminated in a fluttering feeling in the muscles of my neck, my upper arms and my right hand. I began to notice that things were just a touch easier to do. My Sonicare toothbrush felt lighter. I was typing faster on my computer. I was able to grab my water bottle just a bit more smoothly. My voice sounded stronger. My respiratory numbers were up. I could text jokes about Mr. Trump to my friends even more swiftly than I had two weeks ago.

Things were happening.

It’s difficult to fathom that the little vial of muscle juice was already working. But, while a great deal of things are “all in my head,” I guarantee than this definitely wasn’t. Just because I could convince 11-year-old me that Santa was real, despite all the evidence to the contrary, this doesn’t mean that I’m imagining that the Spinraza was already helping. While my imagination is incredibly well-honed, it’s not that good.

This week, I head back to Stanford for Dose #2. I never thought I’d be this excited to get another shot into my spine. Never. Just as I thought I’d never live to every meteorologist IN THE WORLD go apeshit over an upcoming solar eclipse.

Seriously, though, this hype is way too much— just like the Twilight movies. Once the solar eclipse is actually done, everyone is going to forget all about it… just like they forgot how they once found Robert Pattinson brooding and charming.

Anyway, please wish me luck for Dose #2.

Who knows what the next two weeks will bring?

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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

(To follow my progress, please subscribe to my blog…)

A Breath of Fresh Air

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…

Here’s to a cootie-free Spring!

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

elizabette… unplugged

medicine