i had a hard time deciding upon a title for this blog post. or how i was going to go about writing it. it has been a long, emotionally (& physically) exhausting week. but right now, i am hopeful.
on tuesday ruby was diagnosed with Spinal Muscular Atrophy, Type 2. (SMA) if you've been following along, you know ruby has had gross motor issues & generalized weakness for months. we had waited in anticipation for her neurology appointment & i was almost sick with nerves. well, just two weeks after that initial appointment we received the genetic testing back confirming ruby's diagnosis. for those of you who are not aware of what SMA is a great website to check out is fsma.org.
this week, of course, has been so hard. the first day, i was in shock. speaking to my family was horrible & re-telling the diagnosis opened up the floodgates of emotion each time. at the same time, our families have been amazing. they have basically been the force that has gotten us through the terrifying & overwhelming moments. there have been times when i desperately needed to talk to someone & each call that ended in a voicemail sent me further & further over the edge until just the right person was available & was able to calm me, give me just the right words, & send me on my way, stable enough to carry on for the rest of the day.
but i am focusing on today only. i can't look far into the future, worrying about if ruby will live to go to high school or college, get married or have children of her own. will she be in pain? will she be made fun of because she won't move like her peers? but all i can focus on is right now. if i look to far forward, i get a knot in my stomach & it feels hard to breath.
right now, my sweet girl is happy & healthy. she has her beautiful & brilliant mind in tact & she will stay that way. no matter the trials we will go through because of this disease, T & i will make her life the best we possibly can. ruby has a lot of positives going for her (no respiratory weakness & developed to taking independent steps at one point) so that is very good & means that ruby is starting from a good place.
no matter what, the truth of this disease is that it will make ruby weaker overtime. and more than likely, i will outlive my perfect child. because of this, i am certain i will come here from time to time to curse & scream & cry about what an unfair piece of shit this diagnosis is to our beautiful ruby. those periods of time will show their face in between my attempts to stay positive. but for now, ruby is happy. & healthy. we will pray for and work for a cure and enjoy every moment with her.