My sweet Scarlett was born with a rare genetic mutation in the GABRA1 gene. We had no idea until she was diagnosed at the age of 2 years old after not meeting the standard milestones most children do. This condition affects her brain, nervous system, and the way she communicates, causing seizures, developmental delays, neurodevelopmental issues, hypotonia, non-verbal speech, nutrient deficiencies, and heart conditions. Because this mutation is so rare, there are very limited, if any, treatment options available, and many families like ours are left with more questions than answers. My daughter has been in and out of hospitals her whole life—had heart surgery at 5 months, and 2 eye muscle surgeries before she could learn how to walk when she was over two years old. I celebrate every inch stone and never give up—but no child should have to struggle so much just to do basic tasks that we take for granted.

After her diagnosis, we were told that there was no community, no non-profit support, no research. We were told to come back in 5 years. That didn't sit well with me.

I started the first parent support group for GABRA1 in 2018 called Scarlett's GABRA1 Village, hoping to connect with other parents and build that community. Later, this grew into starting the first non-profit for GABA-A disorders geared towards awareness of the diseases, community building, uniting families & research, and support science driven data. A long, but rewarding 8 year process.

After 8 years of dedicating myself to finding a treatment, endless hours of therapies that have failed, collaborating with researchers and scientists, one of our trusted & dedicated researchers has finally given us hope.

I've recently learned about an experimental repurposed drug treatment called Ravicti that gives me hope for improving her quality of life. While not yet widely available for conditions like hers, early evidence suggests it could help regulate her nervous system and help her mutated gene function more smoothly, beyond any other treatment available. For the first time, I feel like there’s a real chance to give my daughter the support she needs to grow, learn, speak, and live with more comfort.

Unfortunately, this treatment comes with overwhelming costs that insurance will not cover. We have to travel to Nashville to receive her treatment, and her insurance will not cover the expense because it's not approved for off-label use.

Between the price of the medication, ongoing medical monitoring, travel, and specialized care, the expenses are far beyond what my family can manage alone.

That’s why I'm asking for your help. As a mother, nothing is more heart-wrenching than not being able to give your child what they need, and this treatment could be life-changing. Every donation—no matter the size—will go directly toward making this treatment possible for Scarlett. If you can’t give financially, please consider sharing her story to help us reach others who may be able to support.

I believe in my daughter’s strength and resilience, and we are holding onto hope that with Ravicti, she can have the brighter future she deserves. From the bottom of my heart, thank you for standing with us on this journey.

With gratitude,

Miranda Cox - Mom