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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7 thoughts on “Spinraza: One Year Later

  1. mamajo23

    The value of your life has no price tag to me. Truly my greatest friend outside my twin sis and one of my biggest inspirations. Reading your words, hearing your story and being on the same running text chain is a highlight of my life. This is a great and thought provoking post. Love you.

    Liked by 1 person

  2. Annie Guéçamburu

    You couldn’t of said it any better. Love your feelings for other people and your sense of humor. You can make me laugh and truth be told you can make me cry. You are an exceptional young lady whom I’m proud to call my niece.

    Love you Tantta

    Sent from my iPad

    >

    Liked by 1 person

  3. jane curry

    That was movingly said not just because you shared your life and soul but because of how clear it was that you care about others and have thought things through. I am enriched by having known you and reading what you write. AND, I hope to see you the next time you are at Stanford… so tell me when and where and I’ll be there just to shake your hand and see you even for a minute.

    Like

  4. Fran

    Dear Elizabette, I agree with what others have written about your latest article. You always balance the seriousness of SMA with humor.
    I also love your care and concern for others unable to receive the treatments. I am privileged to be your friend. You make my heart happy.
    Love, Fran

    Liked by 1 person

    • elizabette

      Thanks for all you are doing! I will keep writing and sharing my journey… through awareness, hopefully Spinraza gets to more & more all over the world!

      Like

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