Valeria Schenkel – A Little Girl Who Moved the World

Valeria Schenkel was born on February 14, 2018. Just a few days after her birth, she experienced her first epileptic seizure. The diagnosis that followed was devastating: a de novo mutation on the KCNT1 gene — a severe and ultra-rare condition that meant Valeria would never develop cognitively or physically. From that moment on, she suffered daily seizures and immense challenges. But Valeria’s life was never defined only by her illness. She became a spark — a source of strength, determination, and progress. Her courage and presence inspired everyone around her to take action. Together with leading researchers at Harvard Medical School and Yale School of Medicine, her parents, Alexandra and Mario Schenkel, initiated the development of something truly groundbreaking: Valeriasen — the first knock-down antisense oligonucleotide (ASO) ever created for a single human being. It was a world-first across all diseases, developed in record time, because one little girl showed what was possible when hope meets science. In September 2020, Valeria became the first person to receive this individualized therapy. Her seizures decreased dramatically. For a brief, precious time, her body responded — and she showed the world that even the most complex diseases can be confronted. Sadly, Valeria passed away in September 2021, just three and a half years old. But what she achieved in her short life changed lives far beyond her own. She proved that therapies for ultra-rare diseases can be developed quickly, personally, and effectively. Thanks to her, other children with KCNT1-related epilepsy are already being treated with Valeriasen. Carefully dosed, closely monitored, and responsibly administered, this therapy offers real hope — because Valeria led the way. Valeria also opened many eyes: she showed the world that there are many young children living with devastating rare diseases, and that we can — and must — help them. Although Valeria is no longer with us, her journey lives on. Today, the Valeria Foundation continues what she began. We are working tirelessly to improve diagnostics, expand access to treatment, and push forward the development of new therapies for children with rare genetic conditions. We’ve learned so much — about genetic diseases, about science, and most of all, about the power of one life to change many others. But we cannot continue this work alone. Will you help us carry Valeria’s mission forward?
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