You mentioned SMA

AP1_3630_2587Jeff and I packed up Blake, left Kenley with my sister and headed to Seattle for our visit with Neurology. I had been nervous for every single appointment so far, but this one caused a special amount of anxiety. I was on the verge of barfing the whole way there. It’s like I somehow knew.

We didn’t have to wait too long to be called back and put in an exam room. The doctor came in and was followed by another doctor he introduced as a Fellow. He told us the Fellow was in training and would be performing the exam. I can’t even remember the guy’s name, that’s how nervous I was. Right away he was asking questions we hadn’t been asked before. Let me tell you; we have answered a TON of questions over all the visits we’ve had.  One quickly stuck out:  “Since Blake is your second child, do you feel like she moved less in utero than your other daughter?”  No one had asked me that, so I had to stop and really think. My answer was, “Maybe. I guess a little less.”  I looked over at Jeff and he immediately added, “Definitely. She talked about Blake being less active a lot.” It felt strange that I didn’t really remember that, or maybe I somehow didn’t want to remember that. The questions continued for 10 more minutes. During the explanation of what services we were receiving we brought up SMA being suspected by a Physical Therapist but never said to us directly. The doctor nodded, moved on and so did we.

I held Blakey as the doctor began her exam. She kept smiling at him and being super cute, like she always is. Her eyes tracked his light. He looked in her ears.  Then he moved to her mouth.  As he shined the light into her mouth, he asked us if we had noticed her tongue quivering. During my own research, I watched a video on YouTube of a child who had what is called tongue fasciculations, or a tongue quiver.  I told him no and Jeff agreed.  I asked if he saw one. His body language said a lot but he quietly said, “I see it a little bit.” He looked over at the attending doctor who nodded in agreement. My eyes started to well up. Then, he pulled out a reflex hammer and start tapping on Blake. Nothing was happening and he could see I was upset. He assured us that reflexes are difficult to get on babies for a variety of reasons. I saw no response on her left leg and then her right. I looked him right in the eye, “You aren’t getting anything are you?” He waited and then said, “I have to say at this time no I am not.” I couldn’t hold back the tears at that point. I felt them roll off my cheeks and onto my baby’s little head. Jeff took her over to the exam table and they did a few more things. He stood by her so she kept smiling. They finished and told us they would be right back and left.  Just like that, they left the room without saying anything else. I remember bawling and telling Jeff I knew it was really, really bad. My husband doesn’t like to show he’s upset, while I’m upset, but I could tell he felt it too.

About 5 minutes passed and Blake had fallen asleep in my arms. The doctors came back in and sat down. They explained that they needed to confer since one of them was still a student.  I wanted them to hurry up and just tell us what they thought. The doctor looked at Jeff and then right at me. His eyes glassed over.  I will never forget his exact words:  “You mentioned SMA.”

I remember something that felt like a heat wave come over my whole body. I covered my face with one hand while holding my baby girl in the other. I was certain someone had kicked me in the stomach. I was burning up. I knew he was right, but somehow I was shocked. I heard his words, but I stayed in the place of   “Not my baby; not us”.  I wish I could explain the pain of that moment, but there really is no way unless you’ve been there.

The doctors didn’t explain what Spinal Muscular Atrophy (SMA) is or how it happens. We asked the few questions we could articulate at the time. A blood test was ordered; we would get the results in 3 weeks or less. I didn’t need to wait for a blood test; in my heart, I already knew.  We left that hospital with the world looking a lot different than when we showed up.

7 thoughts on “You mentioned SMA

  1. I’m reading this through tears and knowing, in my own way, what that moment feels like. The one where your life just snaps and you knew it was coming but you can’t believe it. And you keep waiting to wake up. I’m so sorry – I wish with all my heart you didn’t know how that felt.


  2. Please know, dear Stephanie, you have my love and support as you dig deep and find the courage to tell your story. You and your beautiful family are in my thoughts and prayers. ~ Aunt Marcia


  3. Your descriptions are so vivid – the events, interactions and the feelings. I can imagine it because of your words, something no one wants to imagine much less experience. Your courage is admirable and huge. Blake is so beautiful and so fortunate to have the family she has. Every thought of you all is a prayer.


  4. Thank you for sharing your story, and updating us. I will continue to follow. I have a friend who has a family member who’s son has SMA. (the first time i have ever heard of it) I have been following their story as well. He just turned two. God bless you and your family. I will pray for you.


  5. Stephanie, and thank you for opening your heart to us! My husband, Mark, is your mother’s cousin and we live in Las Vegas. Prayers to you and your family.


  6. Jeff , Stephanie, Kenly and Little Ms Blake. We share out loud many blessings and our prayers are in opening Prayers daily. Such a beautiful precious family. Love you, Julius and Debrah Woeck


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