SCN8A Explained: From Diagnosis to Advocacy
When my son Max was born, like any parent, I imagined a world of possibilities for his future. Little did I know that our family would face an extraordinary challenge that would reshape our lives and inspire a mission to help others. This journey began with a diagnosis tied to a rare genetic mutation known as SCN8A.
What Is SCN8A?
SCN8A refers to a mutation in the SCN8A gene, which plays a critical role in regulating sodium channels in the brain. These channels are essential for transmitting electrical signals between nerve cells. A mutation in this gene can disrupt this process, leading to a variety of neurological disorders, including epilepsy, developmental delays, intellectual disabilities, and other severe symptoms.
The discovery of SCN8A-related disorders is relatively recent, with the first documented cases appearing around 2012. Due to its rarity, many families—like mine—navigate a world of uncertainty and limited information when their child is diagnosed. SCN8A mutations can manifest differently in each individual, making it difficult for doctors to provide a clear prognosis. This lack of clarity can be overwhelming for families, who often feel they are left to figure things out on their own.
Max's Diagnosis: A Life-Changing Moment
Max's diagnosis began with a simple observation during a routine pediatric visit. His Moro reflex, an instinctive reaction seen in infants, was missing. While initially brushed off as minor, a neurologist eventually ordered an EEG, revealing that Max was suffering from infantile spasms—a rare and potentially fatal form of epilepsy. This marked the beginning of our journey into the unknown.
In those early days, we endured countless tests, spinal taps, and hospital stays. Doctors prescribed a steroid as a last hope to stop his seizures. I vividly remember the moment they sent us home after five days of testing with no manual, no roadmap, and no idea what the future held. It was a devastating and lonely experience. For months, I resisted learning more about Max’s condition, unable to face the reality of what was happening. But after seeing my husband broken by the prognosis, something inside me changed. I became Max’s fiercest advocate.
Finding Answers and a Community
After diving into research, I discovered SCN8A as the genetic cause behind Max’s condition. Within minutes of searching online, I found support groups and doctors specializing in this rare mutation. Joining a Facebook group of parents who were navigating the same challenges felt like finding a lifeline. For the first time, I wasn’t alone. I found others who understood what it was like to navigate a medical world where answers were scarce and progress felt slow.
This community inspired me to do more. I didn’t want other families to feel the isolation and fear we experienced. That’s why we started the Mad Max Foundation—to provide resources, education, and support to families dealing with SCN8A and other special needs challenges. Whether it’s connecting parents to specialists, offering guidance, or advocating for siblings like Max’s younger brother Zach, who also needs support in his unique role, we are committed to making a difference.
A Call to Action
SCN8A is rare, but its impact is profound. Families affected by this mutation need more than medical care; they need a community of support and understanding. My hope is that through raising awareness, we can improve the quality of life for children like Max and show their families that they are not alone.
If you’ve never heard of SCN8A, I encourage you to learn more and share our story. Together, we can advocate for better research, resources, and hope for families navigating this challenging path. As I often remind myself, this journey isn’t just about what’s been taken away—it’s about what we can give back to help others find strength and connection.