Our second year of Lucia’s journey with SCN2A has been another wild ride. It brought a milestone some never get to celebrate: one year seizure-free. But it also brought devastating loss in our SCN2A community.

We learned of Lucia’s SCN2A mutation 18 months ago with the sudden onset of a rare and catastrophic form of epilepsy, followed by an intense developmental regression that took every skill she had.

This year has brought hard-won progress held back by the limits of what Lucia’s brain and body can do, since her faulty sodium channels don’t let her brain’s electrical signals get through cell membranes as they’re supposed to, so learning takes longer no matter how many times we repeat an activity. 

Lucia has been working hard in physical therapy, occupational therapy, speech therapy, and vision therapy. She’s come so far from where she was…. But she has never spoken a word.

Many with SCN2A disorders are nonverbal. Imagining a lifetime without language for your child means imagining all the ways the world may hurt them or leave them behind if you’re not there to protect them.

What is SCN2A?

SCN2A is a gene we all have, which can mutate out of nowhere and cause epilepsy, autism, intellectual disability, severe respiratory and cardiac and gastrointestinal threats, and limited communication. 

Today, SCN2A disorder is a catastrophic and life-altering diagnosis. But it doesn’t have to be this way forever.

The Science Is Moving Fast

The SCN2A research and development pipeline is active and gaining momentum.

Researchers have successfully targeted Lucia’s “Loss of Function” type in mice with phenomenal results that restored healthy gene expression, even in adolescents.

Treatments could be available by the time Lucia is an adolescent—or even sooner.

This would change and expand the course of her entire future—but only if the research continues now.

We can’t get there automatically. We need your help. 

The jump from SCN2A being a catastrophic and life-altering diagnosis to a manageable condition like Type 1 Diabetes or Cystic Fibrosis is entirely feasible.

But it won’t happen without funding and the massive efforts of scientists, researchers, drug developers, dedicated parents, and ordinary people just like you to help advocate for a better future. 

Join in the Fight

Join the SCN2A Warrior Challenge to fight with us for our kids and their futures.

Donate here and join Team Lucia or any other team—we’re all in this together!

Share to amplify our voices and help us cure SCN2A.

Donations help the FamilieSCN2A Foundation support families around the globe and drive the research that will give our kids a fighting chance at a better life.

Thank you, for helping us fight for a better future for our kids and everyone touched by SCN2A!