The story of Emma
Emma, once a vibrant and healthy child, faced a sudden and devastating turn when seizures struck at 3. Genetic testing unveiled a cruel diagnosis—Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), Batten Disease. With deficient TPP1 enzyme levels, waste accumulation in her brain and retina threatened her cognitive, motor, and visual functions. At 6 years old, she battles fiercely with biweekly enzyme replacement therapy, the sole FDA-approved option. Life expectancy looms at 6-12 years, but a glimmer of hope emerges with the prospect of gene therapy. Emma’s family fights tirelessly, yearning for a breakthrough to save her life.
In August, Brazil’s first-in-human clinical study on RGX-181 revealed robust safety, efficacy, and promising research. Our family, fueled by hope, awaited updates, yearning for Emma’s chance. Yet, our hope shattered when the company declared program closures for CLN2, citing economic reasons—where rarity equates to less profit. Does rarity diminish the right to a cure? I stand resolute to spread the word, forging ahead with unwavering faith. Not just for Emma, but for every family grappling with rare diseases, desperately awaiting gene therapy. My daughter’s life is invaluable, and our pursuit of a cure persists with unyielding determination.