Meet Paxton
Paxton is the son of the founders of Cure CLCN6, Paul and Kristin. Paxton was diagnosed with a CLCN6 mutation (F254S/Phe254Ser) variant in 2024, when he was seven years old.
Paxton is happy and loving boy who loves spending time with his family, going on the swings, playing with his stim toys, watching cartoons, and being with his friends at school.
Paxton has lost speech and mobility over time, which highlights the urgency to develop a gene therapy treatment to stop neurodegeneration, to give him hope and an opportunity for a better future.
You can follow Paxton's journey on Instagram and Facebook at https://www.instagram.com/paxtons_pioneers/
Meet Eliana
Eliana began experiencing absence seizures in 2022 which progressed in severity throughout 2023, leading to whole exome sequencing testing that discovered she has a mutation on the CLCN6 gene. Eliana lives with complex epilepsy, developmental challenges, and neurological symptoms that require ongoing medical care, therapies and anti-seizure medications. Despite these challenges, Eliana continues to show strength and resilience every day.