When Seung Chun’s young son is diagnosed with a rare genetic mutation, she tries desperately to find a treatment.
Story Transcript
I grew up shy, the immigrant kid who learned early that it was safer to observe than to speak. So I developed another skill, solving problems. If I could fix things quickly, I didn't have to ask for help. By my late 20s, that instinct was automatic. When something broke, I moved immediately.
So when I was working at a biotech company doing research, I thought I had found my place. The only problem? The rodents. No matter how many allergy medicines I took, I couldn't stop sneezing and my eyes felt like they were on fire. Eventually, my face would break out in hives so intense that only a steroid shot could calm them. At one point, I had three steroid shots in three months, which was not safe.
That's when I was told I could no longer work with animals, which meant I couldn't continue doing the work I had built my career around.
But me being me, I didn't see it as an ending. I saw it as a pivot, maybe even an opportunity. So in 2014, I sat down with my boss and told him I wanted to learn about the development side. I'm not sure how much of that actually registered, but he mentioned someone we had met at a program dinner the week before.
It was 7:00 PM, and without hesitation, I walked straight to that person's office. Of course he was still there. Work‑life balance didn't really exist back then.
I explained my situation. He paused and said, “In regulatory affairs, we do,” and started listing things that were completely over my head. Then he stopped. “We actually have an open position. Are you interested?”
Wait, what? I didn't understand a single word he said, but yes, sign me up.
Three months later, I transitioned from research into regulatory affairs. The shift was so seamless, it felt like divine intervention.
Two years in, I realized it was the perfect job for me. Honestly, it still is. I get to see the entire life cycle of a drug, solve problems, and help people with unmet medical needs. The irony? Regulatory affairs isn't quiet work. It means leading meetings, speaking up, even negotiating with other stakeholders internally and externally. And I was still that shy immigrant kid who preferred the background. Somehow, the job fit my brain but didn't quite fit my personality.
So underneath all that excitement, I could not shake a question. Why am I here? This was the opposite of the path I had imagined. So for two years, I kept asking God why he had placed me here, somewhere I never planned for.
Then I read a verse that stopped me. “Yet God has made everything beautiful for its own time. He has planted eternity in the human heart, but even so, people cannot see the whole scope of God's work from beginning to end.” Ecclesiastes 3:11. I realized I might not understand the full picture, and that would just have to be enough.
A few years later, I became a mom. It was during the COVID‑19 pandemic, so I didn't see other kids Asher's age. He was smiley, curious, chubby, just perfect. The delays didn't become obvious until he was eight months old and still couldn't sit.
At 18 months, he couldn't crawl properly. He did the army crawl. I wanted to believe he was just taking his time, but my mom gently suggested seeing specialists. Because it was still the pandemic, every appointment came with at least six months' wait: neurologists, developmental pediatricians, psychologists.
Waiting is not my strength, so I filled the waiting time with action, therapies, research, appointments, anything I could control. On Asher's second birthday, we received a diagnosis, autism. The doctor looked uncertain, like even he was not convinced.
It was not satisfying so we kept searching. More tests, more doctors. Then on April 7, 2022, the neurologist called. We found the cause of Asher's delay. For a split second, I felt relief. Finally, an explanation. “It's called creatine transporter deficiency,” he said. There's a mutation in the SLC6A8 gene. Asher can make creatine, the molecule the body uses to make energy, but he can't transport it into his cells. Without that energy, his muscles and brain can't function properly.
“What's the treatment?” I asked. Silence.
“There isn't one.” He told me he'd never heard of the disease before, that there was not enough information.
And I just stopped breathing. It felt like the earth stopped spinning. Because I worked in rare disease drug development, I knew exactly what that meant. I knew the odds of a pharmaceutical company investing in a condition affecting fewer than 150 people in the US. I knew the caregiver burden, the sleepless nights, the explanations to strangers.
I panic‑searched through PubMed for hours, read everything I could find. Remember, I'm a problem solver. I needed an answer. But there wasn't one.
Then I remember something every rare disease patient I had met through work had said, “Find the patient advocacy group.” So I searched. There it was, the Association for Creatine Deficiencies. I registered Asher's information, and within 24 hours of diagnosis, I was connected to other parents. I wasn't alone anymore.
That's when it hit me. Wait, was this what God was preparing me for? All those years in regulatory, rare disease drug development, learning how this world works, was it leading here, to a child with a rare disease? That realization didn't bring peace. My heart raced. Resentment, disappointment, anguish.
Two years later, we flew to Utah for the ACD symposium. I arrived with hope, but left devastated. The research was still early. No potential treatments. The gene had been discovered 20 years ago, and so little had changed. Asher was only two.
I felt defeated, but my husband Chris experienced it differently. Even after seeing older kids with more severe symptoms, he just sat with Asher, laughing, playing, fully present. To him, Asher was still perfect. Maybe he was naive. Maybe he was wiser than I was.
We decided to take it one day at a time, even if that meant one small step forward and two steps back in Asher's progress. I started volunteering with the organization, helping wherever I could. If I couldn't fix it, maybe I could move it forward even a little.
Fast forward four years, Asher is now six. He's still smiley, still curious, still happy, but his understanding is closer to that of a two‑year‑old. He's nonverbal, not potty trained, still wakes up in the middle of the night. He communicates with sounds, pointing, and an AAC device, which is an iPad with a speech program. He loves music, cars, cheese, Dino chicken nuggets, and farts.
Most days are a struggle, trying to understand what he wants, navigating tantrums, the screaming when he's told no, the look of disappointment on his face when I fail to understand him. By the end of the day, it feels like the world is collapsing. Physically and mentally, I'm beat.
Tears roll down my face as I put Asher to bed. The lights go off, the room goes quiet. It feels like the perfect moment to hide and cry in the dark. Since the diagnosis, every therapy session, every school meeting, every conversation feels like pushing against a wall that won't move. It feels unfair, and there's nothing I can do to fix it as his mom.
Then I hear it. His fart, and his giggle. I say, “Dude!” He giggles even louder.
That sound, I know by heart. I picture his bright eyes, his mischievous smile. He's still here, still laughing, still finding joy in a world that hasn't made room for him. And in that moment, I remember. Even if I can't fix everything, I can still love him fiercely. And that love is enough to carry me.
I whisper to myself, “Tomorrow is a new day.” Not because it will be easier, but because there will be another fart, another giggle, another chance to hope.
Thank you.