2025 has been a whirlwind. We celebrated Lucia’s first birthday thinking she had a long, bright future ahead full of adventure and possibility. Six weeks later she suddenly started rolling her eyes up and losing muscle tone, and what began as an “overly cautious” trip to the children’s ER turned into a hospital stay and several unexpected diagnoses.
Wham. Bus. Sometimes life comes at you when you least expect it.
Epilepsy. Infantile spasms. West syndrome. Epileptic encephalopathy. Developmental regression.
Mutation of a gene called “SCN2A.”
Poor prognosis. Potentially progressive. Shocking terms like mortality rate. SUDEP.
We watched helplessly as our bright light—with the biggest smile and easiest giggles—lost all her skills. She went from a vibrant toddler to like a newborn. She no longer smiled. At all. The worst part was that it felt like she was unreachable, lost inside her own body. Your love for your child never ceases, but when it feels like you can’t find your own child even while you are holding them in your arms, it’s a weird sort of grief.
During this time, we found the
FamilieSCN2A Foundation. We’ve connected with amazing families who have endured our worst case fears, but they still find ways to keep love and joy and hope alive. All is not lost—the foundation is working to create a brighter future for our kids, raising awareness and funding, and generating research to develop treatments and, hopefully, a cure.
Thankfully, things have been looking up for Lucia. It started slowly, as she suddenly smiled upon waking one day (yes, tears of joy and relief). Her seizures ceased a few weeks later, and this has ushered in a season of growth. Now she’s on a quest to regain lost skills and acquire new ones, and is in therapies like PT, OT, and SLT to aid her. Best of all, her radiant smiles and eager laughter are back, and it feels like we’re the luckiest people in the world.
Sometimes it feels like the worst is over, we’ve conquered SCN2A, and we don’t have to think about it anymore. It would be easier to just tell ourselves Lucia is going to live a wonderful life without limits despite her condition. But for kids with SCN2A-related disorders, life is often a bit different. We don’t know what this will mean for Lucia or what her future will look like. Seizures could come back, with more developmental regressions. She could have autism. No matter what, she’ll be fiercely loved, and advocated for to the best of our bandwidth.
That brings us to the 2025 SCN2A Warrior Challenge. Thank you if you’ve read this far and are willing to consider a donation. Any amount you can give is deeply appreciated!
Together, we can help bring about a brighter future for kids with SCN2A-related disorders. Thank you, from the bottom of our hearts!