Isaiah’s story began long before we understood what SCN2A would mean for our family. At just 9 months old, Isaiah was diagnosed with a genetic disorder caused by a change in his SCN2A gene. What we didn’t know then was how profoundly this diagnosis would shape nearly every part of our lives and how much it would teach us about strength, love, uncertainty, and hope.
SCN2A affects the brain and nervous system. For Isaiah, it has meant epilepsy, developmental disabilities, cortical visual impairment, significant communication challenges, and a level of medical complexity that requires constant care and support. He is nonverbal and communicates in ways that require us to slow down, pay attention, and learn his language. He relies on equipment, therapies, medications, and a team of people working together to help him thrive.
But Isaiah is not his diagnosis. He is our son. He is a little boy with a personality, preferences, expressions, laughter, and a way of experiencing the world that is uniquely his. Behind every seizure, therapy appointment, medication, piece of medical equipment, and difficult day is a child who deserves the same thing every child deserves: the opportunity to live a meaningful, joyful, and fulfilling life.
Our everyday life looks different. While many families can simply wake up and begin their day, our mornings often begin with medications, feeding, equipment, positioning, monitoring, and making sure Isaiah is safe and comfortable.
Our days are structured around therapies, medical appointments, nursing care, medications, nutrition, transportation, accessibility, and seizure management. There are schedules to coordinate and specialists to communicate with. There are nights interrupted by seizures and mornings that begin with exhaustion.
Sometimes a simple outing requires planning that other families never have to consider!
Can the location accommodate his wheelchair? How will we manage his medications? What if he has a seizure? Will the environment be accessible for his visual impairment? How long can we realistically be away from home?
Even birthdays, vacations, family activities, and ordinary childhood experiences often require additional preparation but there are the moments no schedule can prepare us for: an unexpected seizure, another emergency room visit, equipment that stops working, debilitating illnesses, frequent setbacks, or the fear that comes with knowing that something can change in an instant.
SCN2A has changed the way our family thinks about time.
We celebrate things other families might take for granted. A new skill. A successful therapy session. A moment of communication. A smile. A laugh. A peaceful night. A day without a major seizure. A new experience that Isaiah is able to participate in.
These moments may seem small to someone looking from the outside, but to us, they are enormous and that is why research and fundraising matter so much.
Families like ours cannot simply accept that this is as good as life can get for Isaiah. We want more.
We want better treatments. We want therapies that target the underlying cause of SCN2A rather than simply managing its consequences. We want fewer seizures. We want better communication. We want greater independence. We want Isaiah to have more opportunities to learn, explore, play, connect, and experience the world around him.
Most importantly, we want quality of life.
Research gives us hope that one day, children like Isaiah may have access to treatments that could change the trajectory of their lives. But research requires funding. Clinical trials require funding. Developing treatments for rare genetic disorders requires funding.
Families affected by SCN2A are fighting against time. Every dollar raised helps move research forward, brings scientists closer to understanding this disorder, and increases the possibility that the next generation of children diagnosed with SCN2A will have more options than Isaiah had.
Our fundraising isn’t simply about raising money. It is about raising possibility.
It is about giving Isaiah and children like him a future with more choices, communication, comfort, independence, experiences, laughter, and opportunities.
Isaiah has changed our definition of strength.
There are days when we are exhausted. Days when we are overwhelmed. Days when we wonder how we will keep everything moving. Caring for a medically complex child while also trying to maintain a household, work, care for our other child, attend appointments and therapies, manage school and responsibilities, and still create a childhood filled with love and memories is incredibly demanding.
There are sacrifices people don’t always see: interrupted sleep, constant planning, financial strain, emotional exhaustion, fear, appointments, therapies, medications, equipment, uncertainty, countless hours spent advocating for something Isaiah needs.
And yet, there is also something incredibly beautiful about our life with him.
Isaiah has taught us to celebrate progress instead of perfection. To recognize communication beyond words. To find joy in moments that might otherwise go unnoticed.. To understand that a meaningful life does not have to look like everyone else’s and to never underestimate the power of a child who continues to fight forward despite everything his body and brain ask of him.
We fundraise because Isaiah deserves a future.
We fundraise because rare diseases deserve attention.
We fundraise because children with disabilities deserve more than survival, they deserve quality of life
We fundraise because parents should not have to wonder whether a treatment exists simply because their child’s condition is rare.
We fundraise because the science is advancing, and we want Isaiah to benefit from that progress.
We fundraise because Isaiah is worth fighting for.
Every donation, every share, every conversation, every person who learns what SCN2A is, and every person who supports research brings us one step closer to a future where SCN2A doesn’t dictate the limits of a child’s life.
We cannot change the diagnosis Isaiah was given. But we can fight to change what that diagnosis means.
For Isaiah.
For our family.
For every child living with SCN2A today.
And for every child who will be diagnosed tomorrow.
We aren’t fundraising because we believe Isaiah needs to be fixed. We are fundraising because we believe the world should give Isaiah every opportunity to live the fullest life possible and we will keep fighting for that future: one day, one treatment, one discovery, and one dollar at a time.
Thank you for joining us in our mission