Into the clearing: emerging from the fog of diagnosis

Two months earlier, I’d given birth to my second child─a healthy baby boy─and our sweet little family was tired but blissfully happy. However, I felt an inexplicable, nameless dread threatening some tragedy to come. I actually wondered if my husband would be hit by a bus or have a car accident.

I took note of a slight tremor in my son’s hand and told my husband it didn’t look right. He reassured me that everything was fine. Only it wasn’t. And on February 13, 2008, a neurologist sat across from us and uttered those letters: SMA. What? He said, “We’re not going to be sure until a blood test confirms it, but we believe your son has Type II spinal muscular atrophy.”

The words felt like a slap in the face, and I felt the air in my lungs escape like it wanted nothing more to do with me. As the smiling, cooing baby on my lap wriggled around, charming his audience, the neurologist explained that SMA was a neuromuscular disease. We were told that our 20-month-old son, with his sparkling eyes and chubby hands, would never walk. We were also told that he would develop scoliosis, need a power wheelchair to get around, need surgeries, and may die prematurely.

The world caved in. It was all I could do to not crumple on the floor in a puddle of tears or screaming. I bit the inside of my cheek until I felt the blood; I wanted to feel anything but the heartache I was experiencing.

We left the hospital shell-shocked and wanting to retreat far away from the beast that had just invaded our lives. The San Francisco sun was shining; it was a gorgeous day, but it felt taunting and mean. Nothing felt right anymore─everything felt threatening. We headed home and broke the news to my husband’s parents; everyone sat in shocked silence. Everyone except for our typically-developing preschool-aged daughter and our newly diagnosed 20-month-old son. They carried on as 4-year-olds and 20-month-olds do: going to the park, needing snacks, and being silly and fussy when tired.

We carried on, broken and scarred. It’s not that we were being heroic. Carrying on is what you do as a parent. Don’t get me wrong, I cried for days, weeks, and months─and still at times, 8 years later.

But after immediately informing our friends and family, we contacted the advocacy organization Cure SMA. At the time, it was called Families of Spinal Muscular Atrophy. They were wonderful. They sent a packet of information and a care package for newly diagnosed individuals that was filled with toys, books, and a blanket. Our son was over-the-moon thrilled with his new treasures and we were reminded that warmth and kindness still existed in our new scary world.

After receiving the diagnosis, some friends came to comfort us and others retreated in nervous fear of our new fragility. I can remember being afraid to hold my son and talking to his pediatrician on the phone after she’d called us to say she’d heard the news. I told her, “I’m afraid. I can’t hold him.” When I thought about the losses our son was facing (indeed all of our family) and what he’d be like after SMA stole from him and ravaged his body, it was almost too much to bear.

We ventured out slowly and timidly into the world for fear it might once again lash out and take from us what we didn’t have to give. We made appointments, and fit our 2-year-old for his first wheelchair. And while he smiled through it all in joyful anticipation of the independence to come, my heart broke all over again in a repeating pattern of grief each time he lost an ability, a skill or needed new equipment to deal with what remained of his muscles.

It was and is excruciating to watch your beloved child lose his motor abilities, like being able to stand at 9 months old, crawl, or roll over. Watching him be able to transition from a laying position…and then to lose that ability. It is excruciating, knowing he’ll never be able to turn himself at night or reach down to pet his dog or bounce a ball. Each loss is unbearable to watch—so, so much loss each time.

But the human spirit is resilient and somehow we did emerge from the fog of diagnosis and learned to be silly again. It wasn’t quick or easy and I learned to remember to take extra care of myself. An SMA diagnosis is a marathon, not a sprint, and running became my salvation. I’d always loved running, but with SMA in our lives, it took on new meaning.

I ran to forget, to punish myself, the world, to feel anything but heartache and fear. I ran to push back my anger and to experience the exhilaration of using the muscles that I’m blessed to be able to use in the service of others─in motion, in movement, in running.

But by far the greatest motivator for pulling us out of the fog and fear and sadness was the tiny little boy smiling and sitting before us in his new green wheelchair that we nicknamed Jay-Jay. What else could we do but explore the world that he was so eager and grateful to be a part of?

SMA takes so many things, but it’s never taken his sparkle, his inquisitiveness, his love for reading, and his joy of being in this world. We are cracked open by SMA and will never be the same, nor would we want to be.