Spinal muscular atrophy (SMA) refers to a group of hereditary diseases which affect specialized nerve cells called survival motor neurons.
-National Health Institute
1.
She was four days old, wrapped in her elephant blanket, nursing while I recovered from postpartum hemorrhage in a wheelchair. We were told that without treatment, she would die by age two. We faced that grim reality for ten days. The treatment might not be as effective for her type of SMA, but it should save her. There were no guarantees she wouldn’t need additional therapy; some Type 1 children required feeding tubes or ventilators.
Minutes before the main infusion and after ten days of testing, they sat us down again. G was nursing, looking into my eyes with her questioning gaze.
“This never happens,” they said, “but there was a mistake with the samples.” After retesting with two different genetics companies, they discovered she has Type 2 SMA, not Type 1. We were floored. The odds are not great for either type, but they are significantly better for Type 2.
SMA is treatable by gene therapy only while asymptomatic. They turned my baby over and over like a car they were inspecting for signs of weakness. They declared her asymptomatic—but there was no definitive test to confirm whether the tiny survival motor neurons in her spine had begun to die.
The room blurred, and I felt sick with hope I dared not accept. I had read that therapy works better for Type 2—it develops more slowly than Type 1, increasing the chance she is truly asymptomatic. Are they telling me she might be okay? My eyes well with tears of relief, I am shocked. It wasn’t until days later that I remembered to ask how this mix-up happened.
“Someday this will just be a bad time you tell her about,” the neurologist said. I could tell she didn’t lie to her patients by the steadiness of her eyes. She admitted she had no idea how I felt; she doesn’t have a child with SMA. When I called her after hours, she answered while handing her child a hot chocolate, cautioning them to be careful not to burn their lips.
When the nurses cooed at G and disrupted our solemn mood, we cringed. I couldn’t tell if it bothered my husband or just me until he commented on their high-pitched voices. This moment is everything to us: the room with its cheerful paintings and thoughtful details—plants, art installations, things at children’s eye level. They comfort us some days, while other days, I long for sterile white walls and safety posters, wishing everyone would stop smiling at me just because I’m holding a tiny baby.
This moment is as important as G’s birth, and only the doctor seems to grasp it. Without the drug, G would not know anything different than to exist in a weakening, painful body. The average lifespan for Type 2 without treatment is 40 years, with respirators, feeding tubes, and wheelchairs becoming the norm. Without it, our bright-eyed, perfect girl would wither away.
No one but my husband, the doctor, and I are allowed to touch the $2 million vial of infusion that will save G. They hook up two IVs simultaneously, one in each of her tiny arms, strapped down to ensure the infusion goes perfectly. If one line fails, they can immediately use the other, wasting none of the precious drug. No one says what would happen if both lines fail.
2.
If both parents are carriers of spinal muscular atrophy, there’s a 25% chance with each pregnancy that their child will have SMA.
My first two children do not have SMA. This takes my breath away, given the odds. There was no treatment when they were born; it was introduced just a year after my second daughter’s birth, along with newborn screening.
They don’t like to test for things when there’s no cure. I ponder this cruelty regularly.
3.
I believe the miracle of insurance executives working through Christmas to make every second count was powered by hundreds praying for G. She received treatment just ten days after her diagnosis.
The timing of treatment was expedited by the mistake in the initial testing; the false positive for Type 1 SMA allowed for almost instant insurance approval—she would receive the earliest possible treatment. They called it a “never mistake.” It never happens, should never happen. The doctor rushed so much under the pressure of timing, she sent a junk vial.
She said wryly, “The insurance companies aren’t the good guys, but in this situation, they’re acting like it!” The next time we saw her, she said, “We haven’t had as many wins like that recently.” My heart sank at the thought of families fighting for treatment approval while racing against the clock.
A friend watched our older children for 8 days while we stayed at Doernbeckers. They’d never had a sleepover with anyone but their grandparents.
They were so much better in her hands than ours. Our hands, all four, were holding G, restraining her on tables, in hospital cribs, and through long nights on steroids, sick from the virus they infected her with as part of the therapy. She vomited, crooned, and moaned, railing against the world. I nursed her after each affront, and her little eyes asked me, “Why?”
4.
The sad part was when her tear-filled cornflower eyes stopped asking. There was just anger and acceptance—no baby should feel that at 14 days old. G cried, yet I couldn’t cry anymore. I didn’t cry again for six months until June when my husband coaxed it out of me. He put my head on his shoulder and said, “You need to cry,” rubbing my neck until I finally wept again like a little girl over all we did to save G.
5.
One reason my baby breathes without a ventilator, eats without a tube, and runs, climbs, and jumps everywhere I’ll let her is because of moms I’ve never met. Moms of children with SMA—like Rev. Carolyn Philstrom and Regina Philipps—who advocated fiercely until the USA instituted newborn screening for SMA in all 50 states. In my home state of Oregon, it was implemented just two years before G was born.
As my friend Erika once said, there are beings in this world looking out for us, and it is each other. It is each other. It’s just not always who you expect.
6.
G walked right into church in her little pink cowboy boots last weekend—the church that prayed for her steadily, faithfully, relentlessly.
G is strong. “Long and strong” is her special prayer from her adopted grandma; our friend who watched our kids during treatment has grown into chosen family. “G, long and strong, long and strong, G,” she texts me, and the refrain becomes my prayer and declaration for my daughter. And she is a tall and impishly beautiful toddler with clear blue eyes and long feet like her dad.
7.
Having the privilege of receiving life-saving gene therapy for your child while so many other children suffer or die from SMA is a surreal type of survivor’s guilt. I don’t know why we were blessed to keep G here. I do know it was driven by love—the selfless love of those SMA parents who walked before us, some of who lost their children while advocating for ours. The love of the doctor who rushed so much she made a “never mistake,” but a serendipitous one.
The love of our friends were tiny miracles, little waves driving the overall unfathomable process we would’ve drowned in, otherwise.
One friend from Bend sent six mini-cakes of different kinds from a special bakery; I know it must’ve cost a small fortune to ship. For three days in a row, I wouldn’t have eaten at all if it weren’t for those treats. That feeling of being loved was the only thing that got my mouth to open, to chew, and to swallow..
There are so many others— the width and breadth of their kindnesses kept me afloat. Kept me from floating away.
8.
I get the doctors to agree; if they don’t like the word “cure,” what happened to G is a healing.
9.
When the farmer calls in his flock, it is the bummer lambs—the ones who needed special care to survive—that run to him first. They know his voice.
When my husband turned to me, tears in his eyes after G's diagnosis, and said, “I don’t want any other baby; I want this baby,” I knew exactly what he meant, and I have never loved him more.
The shepherd doesn’t give up on the bummer lambs because they need extra help. They hand-feed them until they can stand on their own. G has taught me so much about weakness and strength.
For a while, I thought God let this happen to G. I thought maybe she was a puzzle piece, bringing all these people together and bringing the Holy Spirit into the hospital rooms as we prayed over every single vial or needle that went into our baby.
I told my pastor this in a prayer meeting, and the next day he stood up on the pulpit and declared that people are not puzzle pieces. I don’t know if it was already part of the sermon; it probably was, and I was meant to hear it that day. God’s plan is and always was for G to be long and strong. To me, it is a mystery how His sovereign nature manifests here on earth. This is where I cannot lean on my own understanding. I don’t think real faith is ever easy. It may be joyous, it may be free, but by its very nature faith is a narrow path.
Every day we live could be filled with pain instead of joy, sadness instead of laughter. I watch G shovel her face full of grits, watermelon, and toast. She insists on three options at every mealtime. Sometimes she randomly grabs us for a long, hard hug. She is the happiest, most content of all our toddlers, as long as there are no elevators.
When she reaches 18 months, my husband snaps out of some low-grade depression we didn’t realize he was in, waiting for G to reach the first timeline they had terrified us with. If she had Type 1 SMA and no treatment, or if the treatment wasn’t soon enough, it would be about 18 months before we noticed anything.
When she starts running and jumping, I also come out of some kind of dissociative fog. I didn’t realize I was holding my breath, but of course, I was.
She opens and closes the garden gate. She climbs in and out of the wagon, planting right on her face and never crying when she falls. She peeks at the pumpkins growing in the field, picks the sweet alyssum, and calls it “pretties.” She chases her sisters.
For over a year, I was chasing the moment before I got that phone call. Now, I chase her.
