I have had an entire year to think about this day, the anniversary of Getty’s diagnosis.
I remember what we were doing that day before her 4 month check-up at noon. I remember what I was wearing, I remember packing the small diaper bag, I remember the weather outside, I remember everything.
I remember the pediatrician appointment being rather routine. I remember the nice discussion we were having with our doctor about Getty. I can’t stress how routine it was. And in a moment right before we left, the doctor made one more quick check on how Getty was bearing weight on her legs and the entire game changed. She did another test with her reflexes and then another to look into her mouth to see the movement of her tongue, all the while Mark and I just sat back as parents not thinking anything was wrong. Then for some reason I started to look at our doctors facial expression. She started to have this really intense look on her face and then it seemed to turn to concern. In a way I was trying to ignore her because in my mind nothing could be wrong with Getty. We hadn’t noticed anything wrong so how could she find something we were not already privy to.
She finished her exam and sat back down in her chair. She paused and then told us that she was concerned. “I don’t want to tell you what I think it is, because you both will go home and google it. I hope I am totally wrong and you get mad at me later for adding such stress to the situation, but I am going to make an appointment with a neurologist to have Getty seen today.”
As I write this, those emotions just come back in a wave of terrifying proportions. We left the room, Getty snug in her car seat and we made the trip home only to wait for the next appointment. I laid Getty down in our bed and we just snuggled together. I could not restrain myself, I cried and cried and cried. I didn’t know what I was crying about really, just the notion that something wasn’t right was terrifying me. Getty looked like a normal 4 month old child. What on earth could it be? I stopped thinking and concentrated on her sweet little face and I just started talking to her. I started to bargain with her, like she in some way had the power to change the outcome of this situation. I told her that she couldn’t leave me. I begged her not to leave me. Her sweet blue eyes just looked back at me with such comfort. I held her for hours until it was time to go to the next appointment. 4 o’ clock came and we were sitting in another doctor room. The neurologist came in and did similar tests as our pediatrician had done. He sat back in his chair as our pediatrician had done and then he told us what he thought. Before he spoke though I can only imagine what was going on in his head. How do you phrase a sentence like this so a family understands but in the same breath is manageable to digest? He did pause for some time and I remember thinking to myself that he doesn’t think we could handle that maybe Getty won’t be able to walk? “Does he think we are shallow enough to not handle news like that, bring it doc!” I was already getting defensive and I had no idea what he was going to say.
“Getty has Spinal Muscular Atrophy. It is a genetic progressive disease that targets the muscles. I believe she has type I which means it is the most aggressive.” The room was silent. No crying, no screaming, no nothing, we were in complete shock. The only thing that I was able to muster up was, “how long do we have?” His quiet voice responded with, “1-2 years on average.” More staring and more silence continued, all the while Getty was laying on the bed gurgling sweet coos to us.
He offered the same consolation, “I hope I am wrong, and I hope you call me later and yell at me for being so wrong.”
I was never able to make that call because he was right, Getty had SMA and Mark and I had given it to her because we were carriers. We unknowingly gave Getty a terminal disease. We gave Getty a disease that will continue to weaken her body. We gave her a disease that will compromise her swallowing. We gave Getty a disease that will compromise her breathing. We gave Getty a disease that currently has no viable treatment or cure. We did this!
So now what on earth does a family do? How on earth does one digest this kind of news? How on earth do you move on with life?
Well I guess the answer is, you just do and that is what we did. You get through one day, the next might not be so great, but the next day might.
Our lives will never be the same since July 30th, 2010.
I wrote soon after her diagnosis a phrase that I like to reflect on from time to time. “What can I say, life as we know it has changed forever. For better or for worse, we will stand together. I am honored to be mommy to the best little girl in the world. Miss Getty we love you!”
This helps me get through some very difficult days. But that is what we are doing, standing together through good and bad. No day is similar to another, there is no security that tomorrow will be here, so we just live everyday like it is seriously our last. It is although, no longer doom and gloom. In fact I would argue that I have never lived life with such fulfillment as I do now as a mother and as a human being. I would have obviously wanted a different outcome, but now I wonder if that would have been possible without one? I am still searching internally with that answer, perhaps I will never know.
What I know for sure is that the love I have for Getty is a love I never thought I was capable of. She makes my soul whole. She has the ability to comfort with the most gentle coos and touches. She is so thoughtful and such a strong-willed little girl. I am so in awe of her power and zest for life. How can such a little being be so wise and teach her parents such life lessons at such a young age? I thank her every day for choosing me as her mommy. I am so lucky.
I hope for those reading this post take in to account a couple of things. SMA does not care who you are. It doesn’t care if you decorated your nursery with cute bedding and beautiful furniture. It doesn’t care if you had dreams of your child one day following in your footsteps and kicking around the soccer ball. It doesn’t care if you were subconsciously dreaming about future milestones; high school, college, wedding. All it does is take. 1 in 40 are carriers. That is over 10 million people alone in the United Sates. SMA can certainly be anyone’s reality. A simple carrier blood test can give you the knowledge you need to make the best decision possible for your family. It is seriously as simple as a blood test. Most doctors don’t even know what SMA is so you can’t assume they will offer this test to you, you need to ask, even if there is no family history. There usually never is.
Having said that I believe it is a choice to allow SMA to defeat you. I am in constant battle with our SMA monster that lives in our home. He is here and lives among us, but he does NOT define Getty in any way shape or form. Getty is, Getty. She is a robust little lady who loves life. Perhaps it is not the path I would have wanted for Getty, but it is what is, and we fight everyday for her. We believe that there is hope for her life and for other children with SMA. You have to hope. We believe we will see a treatment and/or cure in her lifetime. We believe that SMA will become more mainstream and lose its “orphan disease” title. There is nothing “orphan” about the #1 genetic killer of young children. Whomever designated SMA with that title certainly got their facts wrong and has done a huge disservice to this disease. Orphan, to me, implies insignificant and there is nothing insignificant about SMA.
On the eve of National SMA Awareness Month, I want to thank everyone that has helped spread the word about SMA. Whether you have received a Tell 5! package or you have learned from SMA by reading our blog or other great SMA non-profits and families around the US, I think it would be safe to say that we all thank you.
No family should EVER be given the diagnosis of SMA. No family should be given the dire statistics of 1-2 years of life expectancy. No child should have to have their respiratory compromised due to a degeneration of muscles. We need to keep fighting for awareness and we need to keep fighting for a cure. Getty and her friends deserve nothing less. That is why we fight so hard. I want to see Getty attend high school, I want her to graduate from college, I want her to get married, I want her to have a full life and an extended one full of experiences. Getty deserves that.
Getty said “dada” the other day and Mark and I were over the moon. Will more words follow? We have no idea, but we are so thankful for “dada.”