My disease, Spinal Muscular Atrophy, is the number 1 genetic killer of children under the age of 2. Today I am 24 and I just witnessed history be made. But first, allow me to explain my disease.
I was born summer of 92. My mother said that when she was in labor with me the doctors joked that I was asleep because I wasn't helping with the descent at all. My mother also says had I been her second and not her first child she would have known that something wasn't quite right because my movement in utero was gentle and my little sister's wasn't. As they say though, “hindsight is 20/20.” As a newborn I had all 10 fingers and 10 toes. For lack of a less ableist term, I was “perfect.”
However, I never walked, I never crawled, and never rolled over in my crib. I was soon diagnosed with Spinal Muscular Atrophy (SMA) and my mother was told to take me home, love me, and plan my funeral. You would be surprised how many parents got and still get that same speech.
Obviously I didn't die but that doesn't mean I don't know death more intimately than a person my age should. I was 2 the first time I almost died and I was 17 the last time; there were countless times in between those years. Somewhere early on I accepted the mantra “I will never be as strong as I am today.” You see...
If SMA doesn't rob you of your life it will rob you of all the other physical things. I only remember what my smile was like when I look at old pictures; I was maybe 5 when I started losing it. I got a feeding tube at 2 and a half because that's when I started choking on food. I don't remember the last time I picked up a pen. I do remember laying on the couch in the third grade and becoming aware for the first time that I could no long extend my hands back, it was then I knew I would never do it again.
The thing about SMA is it's a sneaky mofo and it'll plateau for years tricking you into thinking you got this. Only to rear it's ugly head and suddenly you can't draw anymore, you stop wearing jackets because you can't drive your chair otherwise, or a simple head cold has landed in the hospital and you're either going to die or going to go home with some machine you don't want to help you breathe.
But as of today, 2016 Will be the last year any baby, child has to die from this disease. The FDA has approved the very first treatment for SMA, something I never dreamt of seeing in my lifetime. When used on infants and little kids this drug has shown to reverse the damages of SMA and help people gain back some strength.And that my friends is the best Christmas gift that anyone in the SMA community could have hoped for.
(I'm not sure what it means for people my age/older as there's some controversy over how the drug will be administered to people who have rods in their back. I'm content with never smiling again or using my hands like I used to but if I could just maintain that would be enough.)