Identical twins Allie and Katie Buryk, both 38 years old, have spent nearly a decade grappling with a rare neurological condition before receiving a definitive diagnosis. Their symptoms began gradually, including leg weakness, difficulty climbing stairs, frequent falls, and changes in speech clarity. After years of uncertainty, genome sequencing in 2014 revealed that the sisters have Late Onset Tay-Sachs (LOTS) disease, a rare and progressive genetic disorder.
Tay-Sachs disease typically manifests in infancy, with most affected children dying between the ages of two and four. Juvenile cases often result in death during the teenage years. The Buryk twins are among the relatively rare adult-onset cases, and while they consider themselves fortunate to be alive, they face a challenging prognosis marked by increasing physical impairment, swallowing difficulties, cognitive decline, and potential mental health issues.
Motivated by their personal experience, Allie and Katie have gone public with their story to raise awareness and funding for research aimed at developing treatments for LOTS and related conditions. Their efforts are focused not only on their own futures but also on improving outcomes for infants, children, and families affected by Tay-Sachs.
Recent advances in treatment development offer some hope. In July 2026, the U.S. Food and Drug Administration (FDA) approved an Investigational New Drug (IND) application submitted by researchers at UMass Chan Medical School. This authorization allows a Phase 1/2 clinical trial to proceed, testing a second-generation adeno-associated virus (AAV) gene therapy designed to treat GM2 gangliosidosis, the group of disorders that includes both Tay-Sachs and Sandhoff diseases. The research team is led by Heather Gray-Edwards, DVM, PhD, and Miguel Sena-Esteves.
Supporting research efforts is the Buryk Fund, which sponsors an annual Late Onset Tay-Sachs Think Tank retreat. Since its inception in 2018, this event has convened leading scientists and clinicians in the field to accelerate progress toward effective therapies. These gatherings have coincided with the launch of four important clinical trials, including gene therapy studies for children with GM2 gangliosidosis and GM1 gangliosidosis, another related disorder. Two small molecule drug trials addressing adult LOTS patients have also commenced. The next Think Tank meeting is scheduled for October 8 and 9, 2026, in Hilton Head Island, South Carolina.
The Buryk twins stress that developing gene therapies and gene editing approaches requires substantial financial resources. They encourage public donations to advance clinical trials for LOTS patients and maintain their commitment to fighting the disease alongside other affected families. Contributions can be made through the National Tay-Sachs & Allied Diseases Association.