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By Cat Powers-Kessler, as told to Kait Hanson
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I can still vividly remember everything about the London hospital room where a doctor sat beside my husband and me and delivered a diagnosis for our 8-week-old son that would change the trajectory of our lives, quickly followed by “Don’t Google it.”
My pregnancy with my son, Charlie, was unremarkable, aside from the fact that he measured quite large. I remember thinking, “Oh, we’re in trouble with this one," because he would keep me up at night with how active he was. When Charlie was born, he had what doctors called a clicky hip; we were advised to see a hip dysplasia specialist, but it wasn’t pressing. Then, when he was about a week old, he had to have surgery for neonatal testicular torsion, where a testicle twists on itself. My husband, Chris, and I breathed a huge sigh of relief when the surgery was a success. We would go home, settle in and everything would be fine.
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As the weeks passed, I knew in my gut that something else wasn’t quite right. Charlie wasn’t really moving his legs and he didn’t fight being swaddled like his big sister had. He didn’t seem to have a startle reflex and didn’t move his arms like I thought he should. During tummy time, he couldn’t lift his head.
But I was in a postpartum haze and it had been four years since I’d navigated newborn life, so I began second-guessing myself. Did I just forget what it was like to have a baby?
During a middle-of-the-night feeding, I dozed off while I was nursing. When I woke up, Charlie’s head was flopped backward. In that moment I thought, “I injured my own child.” But Charlie’s hip dysplasia appointment was coming up and I was counting on finding out that’s what was causing the lack of movement I was tracking, and that it wasn’t something I had caused in the days after his clean bill of health at delivery. But at the appointment, every doctor and tech told us Charlie’s scans looked normal.
That night at home, I noticed that Charlie was working really hard to breathe. He was sucking in air and his belly was quite distended, so I took a video, but the sinking feeling in my stomach already told me everything I needed to know: Charlie needed to go to the hospital.
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At Accidents and Emergencies (A & E), the equivalent of a hospital emergency room in the U.S., things began spiraling. The first pediatrician who reviewed Charlie asked me for videos of how he typically moves, because she wasn't noticing any reflexes. All I remember is that she kept using the word “floppy.”
When other doctors arrived, I called Chris and told him to find care for our daughter so that he could come to the hospital. The same instinct that told me something was wrong with my son was now telling me that the dominoes were about to fall.
After running multiple diagnostic tests, the next on-duty pediatrician sat us down and said, “It looks like Charlie has SMA. Don’t Google it.” Spinal Muscular Atrophy Type 1, also known as Werdnig-Hoffmann disease and commonly called SMA, is a severe genetic neuromuscular disorder that affects infants and leads to progressive muscle weakness and loss of movement, eventually targeting swallowing and breathing. Without treatment, SMA type 1 historically limited life expectancy to about 2 years old due to respiratory failure, according to the Cleveland Clinic.
Nothing could have prepared me for hearing this diagnosis. I had assumed that maybe Charlie had an infection—maybe that's why he was floppy. Maybe I caused this. I thought I wasn’t doing tummy time enough. I really assumed I had done damage, because he’d presented perfectly at birth, and now the pediatrician was telling us that everything I’d witnessed in my son was textbook SMA.
Charlie was placed on respiratory support. I assumed the worst and that we were losing him. No one told me Charlie was dying, but no one reassured me that he wasn’t. They couldn’t. The uncertainty left room for my fear to take over and I remember thinking, “I will do anything to keep him here,” while also believing we might not get to.
I could tell the moment my husband Googled SMA. The optimism he had been carrying disappeared. He broke down and said, “This is it. This is what he has.”
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We existed in our own world that day, absorbing information we never wanted to learn. At one point, while I was crying uncontrollably, a nurse sat me down, looked at me and said, “You need to fight for him. You need to get it together and be there for him.”
It was blunt and jarring—and exactly what I needed.
Once Charlie was transferred to a specialist hospital, we learned there were three approved treatments for SMA: an oral medication, an intrathecal treatment delivered by lumbar puncture, and gene therapy. Every day SMA is left untreated, motor neurons die, and once they’re gone, they’re gone forever. Charlie started an oral medication immediately. He received gene therapy when he was three and a half months old. By then, we had already seen improvements from the oral medication, but waiting for the gene therapy was excruciating. Gene therapy isn’t a cure; it’s a one-time treatment with Zolgensma, one of the most expensive drugs in the world, that protects the motor neurons a child still has, which is why early treatment matters so profoundly.
As an American raising children in the U.K., this journey has been eye-opening. SMA can be detected at birth through a simple heel-prick test. In the U.S., newborn screening for SMA is routine in all 50 states. Early detection is absolutely crucial, as children treated before symptoms appear are now going on to live typical lives. They aren’t dealing with ventilators, feeding tubes or the severe orthopedic complications that often follow delayed diagnosis. Newborn screening for SMA is not yet routine in the U.K., though there are current efforts to change that.
Last week, my heart broke watching the news of British singer Jesy Nelson’s twins being diagnosed with SMA. I have been watching a very public figure move through the same raw, disorienting early days I remembered so clearly—the shock, the fear, not knowing what your child’s life is going to look like.
I’ve never felt particularly connected to pop stars, but in this moment, she’s not a celebrity, she’s a mother. Listening to her talk about how her home now feels like a hospital, how she’s become a nurse in addition to being a mom, felt painfully familiar. The anger she expressed about newborn screening not being routine—that sense that this could have been different—was one I recognized immediately.
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Nelson’s story stirred something complicated for me. My husband and I chose to build our life in London when my job brought us here. I felt supported by the health system with my first child and never imagined we’d be blindsided by a diagnosis like this. One that, in another country, might have been caught at birth. It’s impossible not to think about the alternate reality. If Charlie had been born in the U.S., where newborn screening for SMA is routine, would he be presenting like a typical child today? That question doesn’t have an answer, but it lingers.
One of the questions I’m asked most often about Charlie is whether SMA affects him cognitively. It doesn’t. He’s a very typical 1-year-old—curious, expressive and joyful. Yes, some things are hard. Sitting is exhausting for him. Basic movements take effort. Physical therapy can be gut-wrenching to watch. And of course, there’s always a subtle ache—the wish as his parent that life didn’t have to be harder for him. But Charlie doesn’t know any of that. He is happy. He is content. And he is living.
He has SMA, but it does not define him. He is not “my son with SMA.” He is Charlie, with his bright red hair, cheeky giggle and beaming smile.
If I could go back and tell myself one thing, it would be: Trust yourself. It’s easy to doubt your instincts, to let your concerns be minimized. But you know your child better than anyone.
I’ve spent a long time lost in hindsight, wondering what I could have done differently. Eventually, I learned to give myself grace. This is where we are and from here, we fight, we adapt and we love fiercely.
On the hardest days—when caregiving feels overwhelming and burnout creeps in—I remind myself that effort matters, hard work builds strength, and that Charlie will exceed every expectation I once feared would not be a reality for him. This life is harder than I imagined, but it is also fuller, richer and more meaningful than I ever could have known.
This interview has been edited and condensed.
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