For the first time since our daughter Joni-Lou was born, we’ve been given hope that there could be a treatment for her rare disease. Joni-Lou has a GABRG2 genetic disorder, a rare mutation that causes seizures and affects her development, muscle tone, feeding, movement, communication — nearly every part of her daily life. Since infancy, she has worked incredibly hard for every milestone. She is gentle, determined, and full of quiet strength, but she also faces challenges that no child should ever have to face.

Until now, there have been no available treatments for GABRG2 disorders. Families like ours were told to focus on supportive care, therapy, and making our children as comfortable as possible.

But now, for the very first time, there is a gene therapy designed specifically for GABRG2 — and a preclinical trial is ready to begin.

To reach this next stage, we need help funding the research that could change Joni-Lou’s future. This therapy has the potential to improve her quality of life in ways we’ve only dreamed of. It could mean that one day she walks and talks, and finds the words to say “thank you” all on her own. This possibility is the greatest hope we’ve ever been given.

This phase will test the safety and effectiveness of the therapy tailored to the GABRG2 gene, bringing us one step closer to a treatment that could help Joni-Lou and others with similar variants. Every donation — truly, every single one — brings us closer to making this therapy a reality.

We are profoundly grateful to Cure GABA-A Variants for leading this groundbreaking research and believing in what is possible for children like Joni-Lou. Their dedication in the rare disease space is the reason this treatment is even within reach. To read the official press release about the therapy, please visit curegabaa

From the bottom of our hearts, thank you for considering supporting our family. Your generosity gives our daughter real hope — something we will never take for granted.

With love and gratitude,

Amy and Jordan