For years I've taken Ella to her therapies. Each time I sit and watch. I watch and wonder why SMA has to exist; why do people have to have such horrible diseases. My mind becomes occupied with these thoughts so I divert my attention by doing Facebook, catching up on emails, or grading papers.
It's been just over 5 years since Ella's diagnosis. I can remember that day clearly. After crying, Lindsay and I sat on the floor in front of our stairs (in our old house) with Ella playing innocently in front of us. We looked at her, not knowing what the future would hold for our family. We made that promise to each other, the one about not being able to save her but being able to care for her until they find a treatment or cure.
I sat, on December 23, 2016, watching Ella work while she was at her therapy session, as I always have. I decided to check Facebook and the first post that appeared was a shared post from the Cure SMA Organization..."Breaking News. FDA Approves Spinraza (Nusinersen) for SMA".
Wait.
What??
Yes. I read that right...and so did you!! The FDA has finally approved a viable treatment for SMA. This is huge; this is unbelievable; this is the best Christmas present any SMA family could imagine. A treatment. Something for us to hold on to; something for us to keep our hopes alive. Something for our kids.
The drug targets the back up gene that produces the missing SMN (Survival of Motor Neuron) protein. The back-up gene however has what they call a "splicing error" and therefore only produces roughly 10% of a functional SMN protein. Kids can have multiple back-up copies which helps determine the severity of their SMA. Ella has 3 back-up copies; therefore she produces about 30% of the functional SMN protein needed to keep her motor neurons alive.
This drug targets those back-up copies and directs the mechanism which produces the SMN protein to NOT make the splicing error...in turn, more functional proteins are made. The drug has to be administered into the spinal column throughout the course of a person's life to maintain effectiveness. Small price to pay, I'd say.
This is game changer. For infants newly diagnosed it can mean wondrous things for them. For Ella, it means potentially slowing down the progression of the disease...a wondrous thing in and of itself.
The drug is due to hit the marketplace in early 2017 and the SMA Community can hardly wait. The whole community is buzzing all over the internet about this incredible news.
So many of you have followed our story, prayed for our family as well as those stricken with this disease, and supported us in so many ways. We know that you, too, have held hope for a breakthrough such as this...and incredibly so...it is actually here.
A new chapter in our story will unfold before your eyes.
Click here to read the Cure SMA article!
