Angie Weaver holds onto an unshakable belief that her daughter, who has a rare SCN2A disorder, will beat the odds.
Angie Weaver is the Director of Philanthropy and Development for the FamilieSCN2A Foundation, whose mission is to accelerate research, build community, and advocate to improve the lives of those affected by SCN2A-related disorders around the world. After her daughter Amelia was diagnosed with SCN2A, Angie became a passionate advocate for rare disease families—sharing her story to advance research, policy change, and awareness. She lives in northern Minnesota with her husband, Josh, and their youngest daughter, Penelope.
Transcript
The sleet slaps across my face as I stumble out of the ambulance into the pitch black night. I haven’t slept. I haven’t eaten. The adrenaline pumping through my body makes me sick to my stomach. Red lights flash. I can barely see.
Amelia, my tiny daughter, nine years old, is being loaded onto a small plane. She's wrapped in a thick hospital transport cover, rigid, heavy, velcroed shut like cargo. But inside, I made sure her purple, fuzzy blanket is tucked in close, the one she sleeps with every night, the one that smells like home.
As I follow behind her stretcher, she's having one seizure after another. Full body convulsions, the kind people picture when they hear the word seizure. Arms jerking, legs thrashing, her whole body taken over like something out of a nightmare.
My hair is soaked. My mascara smears. I can't stop shaking. My boots crunch on the icy ground. The air smells like fuel and cold metal. I taste the metallic panic in my mouth, but I keep walking. I repeat to myself, “She's so strong. She's a fighter. We'll get through this too.”
A 42‑minute flight from our small town in northern Minnesota to Mayo Clinic is a blur of failed IV pokes. They try again and again. She seizes. They poke. She seizes again.
I sit hunched in the corner of the plane, water pooling at my feet, trying to remember how to breathe.
I'm 34. It's 21 days till Christmas. I should be home wrapping presents, baking cookies, not watching my daughter fight for her life, not being this helpless.
In the pediatric intensive care unit, I do what I always do. I rattle off her meds, her allergies, her rare disease diagnosis, SCN2A.
SCN2A is a gene we all carry. But when it mutates, like it has with Amelia, it can cause catastrophic disorders, severe epilepsy, movement disorders, developmental delays, autism. There's no cure, no treatments.
For Amelia, it means hundreds of seizures a day, regression, losing her ability to speak and, at times, walk, wheelchair and medical equipment, over 20 failed medications, more specialists than I ever knew existed.
I explain what's helped, what hasn't, and I make it clear the wrong meds can quickly escalate into life‑threatening seizures. So I watch the doctors closely. Who listens? Who dismisses me?
Some look at me with pity, like they've already decided I'm just a young mom in leggings and wet boots, that they know more, despite never having heard of SCN2A until I said the word. And honestly, it makes me angry because I live every hour of this. I hold her through every seizure. I track every dose. I read research. I connect with parents to learn what works for their kids. I educate. I advocate.
And I did trust the doctors back when Amelia had her first seizure. They sent me home with medications that nearly killed her. So I learned to stand in a room full of PhDs and tell them things they might not want to hear from a mom. But I don't care what they think of me. I only care that my daughter lives. This is life and death. My Minnesota Nice goes out the window. I don't have the luxury of falling apart. If I unravel, I might miss something. And I won't let her die because I took a nap and an intern gave her the wrong medication.
It's 3:00 AM before they get a central line in, then a breathing tube. Amelia is finally sedated, still, no longer seizing.
I haven't gone to the bathroom in hours. I haven't sat down. I haven't cried. I sing to her as they intubate, read to her as they place EEG leads, hold her down while they draw blood. I do all the things no mother should ever have to do. And I don't think about the next hour or the one after that. I’ve been doing this for nine years now.
We get her home and start the long work of getting her back to baseline: meds, therapies, follow‑up visits. She's home but she's still not herself. Her body is tired, so is mine.
Time stretches and folds in on itself. Some days feel like two hours, others like two months. We miss a season, maybe two. The days blur.
But somewhere in that tangle of follow‑ups, another name quietly appears on her care team, palliative care. They start asking different kinds of questions, not just about symptoms but about comfort, quality of life, what Amelia would want if she could tell us.
At first, I don't know what to feel. No one has ever said the word death out loud. No one has looked me in the eye and told me she might not survive. So when they bring it up, it feels like I've slipped into a conversation I didn't know I was in.
I wanted to tell them, “We're still fighting. She's still here, still trying.” Do they know how hard she fights?
The thought of losing her is my worst nightmare. It makes my chest tighten, like I can't breathe. Even saying it in my own head feels impossible. But they're not asking us to stop fighting. They're giving us space to talk about things we've never dared say, to think about comfort, not just survival, to imagine a version of care that honors how hard this is. It sees Amelia not just as a patient, but as a child with a life worth living, however long it lasts.
And it terrifies me because it makes it real. It makes me wonder if they see something I can't face yet.
One quiet morning, I'm standing in the kitchen. The fridge hums. The coffee in my hands is already cooling. I hear Amelia and her nurse downstairs doing physical therapy in the lower level we remodeled just for her, for all her medical equipment. It's peaceful, but not normal. We're still trying to get her back to baseline.
She's tired. Her body feels heavier. Our calendar is filled with follow‑up appointments and med changes. Everything still feels fragile.
I stand there, not moving, just listening. And I think about something I learned from the FamilieSCN2A Foundation, brain donation.
At the time, I tuck it away thinking, “God, I hope I never need to know this.” But after our last hospitalization, I can't shake it. Watching your child suffer like that, it breaks something in you. There's a helplessness so deep it settles into your bones. And as much as I want to believe she'll keep fighting, I also know she might not.
I turn to my husband, who has loved me since we were 18, and I say words I never thought I'd say out loud. “I think we need to talk about some plans I hope we never need. What if we donated her brain?”
He looks at me with the saddest eyes. He always says, “Amelia is the one who's going to beat the odds. She's such a fighter.”
We both want to believe we'll never need to make this decision, but we also know we're on the same page. And it brings a strange kind of peace. It doesn't come from giving up. It comes from needing her life to matter in every possible way. We hug and hold each other really tightly for a long time.
Amelia survives that December, and she keeps fighting. But the line between surviving and living keeps getting thinner, and then it's gone.
She dies on a cloudless day in August at Mayo Clinic after another month‑long PICU stay. She's 12 years old.
I hold her hand. I sing her a song. And then a sound leaves my body that I don't recognize. It's the sound of a mother losing her child. It's pure heartbreak.
Amelia's donation becomes the first ever made through the FamilieSCN2A Foundation. Her cells are helping researchers understand SCN2A‑related disorders. I know it sounds clinical, but to me it's not. That brain carried every seizure, every giggle, every inch of who she is. And now, it's still here, still teaching, still giving, still fighting.