The Spinraza update
On December 23rd, 2016 the first ever treatment for SMA was approved by the FDA. The news was exciting, terrifying and saddening all at the same time. With all of those mixed emotions, we were also scared of what this would mean for Nora and our family. We have waited almost eight years to see a treatment or cure hit the market. Since the day she was diagnosed, there was hope that a treatment was just around the corner; one more year, two more years. We eventually succumbed to the fact that it will never happen for Nora. SMA has done so much irreversible damage to her little body. So when the announcement came out, we were honestly stunned.
Nusinersen, marketed as Spinraza, is the name of the drug approved for ‘treating’ spinal muscular atrophy. This is not a cure. While this drug has done amazing things for newly diagnosed children, we are being realistic with our expectations of what this will do for Nora. Spinraza will not cure her, she will never walk and there is a very real possibility that it will do absolutely nothing for her. We are hopeful to maintain the little movement she has left if her wrists and maybe help her breath easier. The drug is specifically designed to stop the progression of this degenerative disorder and restore functionality where motor neurons are still intact (i.e. muscles that have not yet atrophied).
We have thought long and hard about pursuing this treatment option for Nora. Spinraza is administered via lumbar puncture, similar to an epidural. There is a loading period that requires four injection over the course of two months. Injection would then continue for the rest of her life every four months. Oh, did I mention it costs $125,000 per injection (that was not a typo, fyi). Obviously there are significant risks to frequent lumbar puncture procedures. Our biggest concern though is the psychological effects it would have on Nora. She is already terrified of giving blood or getting shots, and for good reason. Over the past few years, we have attempted to get labs and have been unsuccessful.
The scariest aspect for us, was discussing this treatment with Nora. We haven't actually taked to Nora about SMA and why she is the way she is. Call us bad parents, but that is an incredibly heavy subject for a child. We had always expected a day would come for her to ask those pointed questions, but low and behold, they never came. Nora is a smart girl, so we know that she is aware she is different and she cannot do things like other children her own age. Why she hasn’t questioned that, we don’t know. Maybe she just doesn’t want to hear it.
We have been working for months to get our local Children’s Hospital on board and work through all of the insurance hoops. We will refrain from any celebrations until the first injection is done, but we are officially scheduled for Nora’s first dose of Spinraza on Thursday May 11th. We are all on edge about this first injection. Will her scoliosis cause issues? Will she be in pain? Will we be able to successfully get labs? And most importantly, will this help her at all? Stay tuned.