Twin sisters Allie and Katie Buryk, both 38 years old, have spent nearly a decade navigating the challenges of a rare neurological disorder before receiving a definitive diagnosis. Their symptoms began gradually, with difficulties climbing stairs, muscle weakness in their legs, and occasional falls. Speech changes, including increased pace and occasional unintelligibility, also emerged. In 2014, genome sequencing identified their condition as Late Onset Tay-Sachs (LOTS), a rare form of Tay-Sachs disease that progresses more slowly than the infantile or juvenile variants, which are typically fatal by early childhood or adolescence.

While the Buryk twins consider themselves fortunate to still be alive, they face an uncertain future marked by the disease's progressive symptoms, including reliance on wheelchairs, trouble swallowing, cognitive decline, and potential mental health issues. Motivated by their experience and the wider implications for families affected by the disease, they have gone public to raise awareness, funding, and support for research aiming to find effective treatments.

Significant progress is underway in the research community. In July 2026, the U.S. Food and Drug Administration (FDA) authorized the initiation of a Phase 1/2 clinical trial for a second-generation adeno-associated virus (AAV) gene therapy targeting GM2 gangliosidosis, the group of disorders including Tay-Sachs and Sandhoff diseases. This trial is led by a research team at UMass Chan Medical School, headed by Heather Gray-Edwards, DVM, PhD, and Miguel Sena-Esteves.

The Buryk Fund has played a key role in advancing research efforts, sponsoring an annual Late Onset Tay-Sachs Think Tank retreat organized by Dr. Gray-Edwards and held since 2018. These meetings bring together leading researchers and clinicians specializing in rare diseases from around the world, fostering collaboration to accelerate therapeutic development. Their efforts have contributed to the launch of four important clinical trials: two gene therapy studies for GM2 gangliosidosis and GM1 gangliosidosis in children, and two drug trials investigating small molecules intended for adults with Late Onset Tay-Sachs. The upcoming retreat is scheduled for October 8 and 9 in Hilton Head Island, South Carolina.

Gene therapy and gene editing approaches remain costly, and the Buryk sisters emphasize that donations are critical to advancing clinical trials for adults affected by Late Onset Tay-Sachs. They appeal to the public for support to sustain momentum in rare disease research, highlighting the impact funding has on improving outcomes for patients and families facing similar challenges.

For those interested in contributing, donations can be made through the National Tay-Sachs & Allied Diseases Association via the Katie & Allie Buryk Fund in Boston, Massachusetts. The sisters express determination not to give up hope and invite others to join them in the fight against this debilitating disease.