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

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4 thoughts on “The DNA Don’t Lie

  1. My best wishes to you, Elizabette! Even though I’m 61 years old, I have never had any type of genetic testing done to diagnose my SMA (assuming I have it).

    In fact, I have been misdiagnosed twice. For a long time, they told my parents I had Myatonia Congenita, but they were wrong. Of course, back in Pennsylvania, I never had access to the same quality of doctors that are available here in California.

    As a senior citizen, I hope they don’t disqualify me for this treatment, considering I actually have SMA. I almost hope that I do.

    Liked by 1 person

    • elizabette

      Thank you. I hope all of us get a chance to try Spinraza, if we wish to do so. It’s still such an unknown what the insurance companies will say. I’m trying to stay positive, but they have the final word.

      Like

  2. fran huston

    Wow! This is extraordinarily wonderful. Praying the funding will be approved. As always your intelligence and humor shines through. I hope you will be able to meet for book club next Thursday. Have you read it? Julie Dittman told me she loved it. Keep us posted. Love and good thoughts and prayers. Xoxo

    On Tue, Feb 28, 2017 at 8:15 PM elizabette… unplugged wrote:

    > elizabette posted: “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 per” >

    Like

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