When her toddler is diagnosed with a rare genetic disorder that disrupts communication, Amanda Gale must learn how to interpret sound without language—and confront systems that don’t know how to listen.
Amanda Gale is a rare disease advocate whose work is deeply shaped by her experience as a parent to a child with an SCN2A-related disorder. She serves as Program Manager for the FamilieSCN2A Foundation, where she leads family support programs, volunteer initiatives, and community engagement efforts that connect families around the globe. Amanda is driven by the belief that no family should face a rare diagnosis alone, and that progress happens when lived experience, research, and community come together.
Transcript
Before my middle son was born, I followed the rules, I trusted the system, I filled out paperwork, and I waited my turn. And then came Henry, a little boy full of sound but without words. And everything I thought I understood about communication changed.
Henry has these beautiful freckles and a sweet gap between his front teeth. He's all motion, humming this low resonating hum that rises straight up out of his crocs, and he squeals and flaps and giggles. He's wonderfully loud. People hear him and assume chaos or bad behavior, but I wish they heard joy. But their ears aren't tuned the way mine are, tuned to all of those gaps, to the silence underneath all of that sound.
My husband and I noticed signs early on, the missed milestones, the developmental detours. And when Henry was two, we finally got a name for it. It was a rare genetic disorder caused by a change in his SCN2A gene. It's just five letters, but it changes everything. That tiny mutation scrambles how the neurons in his brain talk to each other, and it signals how he moves, learns, sleeps and communicates.
He doesn't have words. Henry is never silent. He vocalizes constantly, and sometimes so loudly the walls could vibrate. His sounds fill every room of our house and it's really how we know that he's happy or frustrated or just being Henry. It's his language. It's how he talks. But the hardest part of our life isn't the noise, it's the guessing because none of those sounds tell us what he needs.
Henry went to a developmental preschool during early childhood. It was a bright, colorful little place full of kids like him. One afternoon, his teachers asked me if they could speak with me. It was during COVID, so meetings happened outside in the parking lot at the picnic tables.
The wind was brisk and it cut through whatever I thought was an appropriate outfit at the time. I remember stepping out of the car and instantly regretting my shoes. They were thin flats that had really no business being out in that kind of weather.
The teachers knew I was always ready for pickup predictably early, and they used that window for that quick conversation. At first I didn't think much of it. I assumed that they had a scheduling question or a small update about the day. But as I walked towards them, I saw the way they were standing. They were still, they were expectant, and something in me started to tighten.
Is Henry okay? Did something happen? Are what we're about to talk about, am I actually prepared for that?
Cars started pulling in behind us and the leaves were skittering about. And as I sat down, one of the teachers folded her hands and her eyes were soft, but her face was pretty serious, the way people look when they're choosing their words carefully.
She said, “We're not saying he won't talk. We're saying he needs more support.”
I let that sentence settle. It didn't come as a shock exactly, but it shifted me. Because even though they framed it gently, those words saying he won't talk gave sort of a possibility that I hadn't ever allowed myself to imagine. Because what if he really doesn't talk? What if spoken words never come?
So they went on to recommend an AAC device, an augmentative and alternative communication. Some people call it a talker. And even though those words felt new and somewhat clinical, it made sense that Henry was communicating, just not with speech, and this could be a path forward.
But that phrase, “he needs more support,” really played on my mind for days. And once I heard it, I started noticing it everywhere. All the small moments when Henry was clearly telling me something, but I could never decipher it.
So one morning, Henry was pacing back and forth, humming these deep moans that he does so well and his flat feet slapping against our polished concrete floors. And because it was morning, I knew he just had to be hungry. I offered him yogurt, toast, waffles, but none of this he wanted. His noises were getting bigger, more urgent, more desperate.
I held up a banana and he burst out laughing, this whole‑body Henry giggle, and I peeled it, but he shoved it away. So he grabbed my wrist and pulled me to another banana. I peeled that and he looked quite hopeful. I cut it up, but he shoved it away. At this point, he's humming harder and he's pacing faster and his eyes started welling with tears.
And we went back and forth like this, peeling, cutting, guessing, missing every time. He was starving and overwhelmed and trying so hard to tell me something he couldn't say. Finally, he pulled me to the utensil drawer. He opened it and he locked his eyes on the straws. A smoothie. He squealed this big squeal and he was bouncing. That was the moment I knew that Henry's needs weren't hard because they were big. They were hard because they were unclear. He didn't need fewer needs, he needed a voice.
Within a week, I got him on a wait list for a three‑week AAC intensive. This place is world‑class. That was before insurance approved anything, before we had a device in our hands, before I had the faintest idea how we would manage driving to and from, or the cost. And that was the first big decision I had made purely as Henry's voice, not as a parent waiting on paperwork but as someone stepping into a role I never expected to hold. I just knew he couldn't keep living in a world solely relying on guesswork. If this program could teach him how to use a voice, any voice, I was going to get him there.
But a year went by and insurance kept denying us, and every letter stamped with “Denied. An AAC device is not a treatment plan.”
At first, I did exactly what you're supposed to do. I gathered information, I filled out all the forms, I sent in letters from therapists, and I submitted the appeal. Denied. So I tried again. More documentation, clarification, phone calls, explaining why he needed the device. Denied.
So I decided to try something else. I tried a different therapist's letter, new wording, bullet points, made it really easy to read. I even gave a SparkNotes explanation of Henry and his whole list of diagnoses. Another appeal. Denied. And every time I thought, I had given them what they needed, the answer was still the same. And every time I found a new angle, it closed.
So this all started to feel like its own full-time job. There are emails, portal uploads, phone calls, hold music and Henry was still relying on me to decode his every sound, every need and every meltdown that wasn't really a meltdown at all. It was just a child who had something to say and no way to say it.
After about a dozen appeals, something in me snapped. I called the state office and the woman began to read her script, so I cut her off. “My son has an SCN2A‑related disorder,” and she said, “I'm not familiar.” So I said, “Okay, let me tell you all about it.” And it sort of just came spilling out.
“My son communicates constantly. He doesn't use spoken words. He squeals and hums and stops, and that's his language. We spend every day guessing what he needs, and you keep denying him because you say this device isn't a treatment plan. Well, a wheelchair is not a treatment and hearing aids are not a treatment. And I know a talker isn't a treatment, but it's access.”
And she tried to read the policy over again. Again, I talked right over it and I said, “You can't ask a child like Henry to wait any longer. You're denying my son access to the world, to his own needs, to his own life.” And silence. For the first time, there was silence.
Five business days later, an envelope arrived. It was plain, unremarkable, the kind of envelope that had carried dozens of denials before it, and I didn't open it right away. I had learned to brace myself to expect disappointment, probably just to protect my heart a little more each time.
But I tore it open at the kitchen counter, standing exactly where Henry had once paced back and forth looking for that smoothie that he could never ask for. And there it was. Approved.
I read it a few times because I didn't trust my eyes and my whole body went loose, like I'd been holding myself together with string and someone finally cut it. I slid down the kitchen cabinets and cried that cry that wasn't sadness or joy, just release. Because this wasn't just a device. It was access. It was possibility. For the first time in a long time, someone heard me and, through me, heard my son.
When Henry first got his talker, he tapped on the screen like no one's business. We had just spent six months in OT working on isolating his index finger into the most beautiful point you've ever seen. Now here he was, trying to engage with that device, try to use it with purpose. And this kid is the king of gadgets. Anything with cause and effect, he's obsessed.
So here he is tapping, giggling when it spoke back, pressing buttons. And every time it said a word, he'd sort of lean in, press it again, hold the device next to his ear sort of as if he was trying to figure out who is this little boy living inside this tablet. That little voice, that little boy Emilio. It's a pre‑programmed, slightly raspy little boy voice, perfect for Henry. It's not polished or cartoonish, just small and real.
The first time I heard Henry pick out a word, I'm pretty sure I stopped breathing. It wasn't his voice, but it was the first time I had ever heard my child speak in a way I could hold on to, like a way I could internalize.
The three weeks of that intensive were long, a little grueling. We drove two‑and‑a‑half hours each way every day. By the end, we were both exhausted. One night before bed, Henry picked up his talker, no prompting, and tapped a sequence. It was fast, a little clumsy. It maybe was intentional, maybe not. And said, “Mom, I love you.”
I froze. I don't know if he meant it. Maybe it was coincidence, maybe I was delirious from exhaustion from driving down and back, or maybe it was just a tiny miracle, but it doesn't really matter because it was his finger tapping on that screen. It was his message.
And Henry lying there wrapped in his comforter and the glow of his talker lighting his face, grinning like he had done something huge, it was that moment that I realized that my son had always been speaking. He finally just had a way to be heard. And somewhere in that fight to give him that voice, I found mine too.