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.
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