Identical twins Allie and Katie Buryk, both 38 years old, have publicly shared their journey with Late Onset Tay-Sachs (LOTS) disease, a rare and progressive neurodegenerative disorder. Their symptoms began gradually, with increasing weakness in their leg muscles, difficulty climbing stairs, and challenges standing without support. Over time, their condition progressed to occasional falls and altered speech patterns, prompting a lengthy diagnostic process that ultimately took eight years to resolve. In 2014, genome sequencing confirmed their diagnosis of LOTS.
Late Onset Tay-Sachs differs significantly from the more common infantile form of the disease, which typically results in death by ages two to four, or the juvenile form, which often leads to mortality in the teenage years. While the Buryk twins have survived well beyond these stages, their condition is expected to continue advancing, with prospects including wheelchair dependency, swallowing difficulties, cognitive decline, and possible mental health challenges.
The twins have chosen to raise awareness and funds to support research efforts aimed at developing effective treatments, underscoring the importance of early intervention for infants and children affected by the disease, as well as support for their families.
Significant progress in research has been made in recent years. The U.S. Food and Drug Administration (FDA) approved an Investigational New Drug (IND) application in July 2026, enabling a Phase 1/2 clinical trial of a second-generation adeno-associated virus (AAV) gene therapy targeting GM2 gangliosidosis — the condition encompassing Tay-Sachs and Sandhoff diseases. This trial is being conducted by a team at UMass Chan Medical School led by Heather Gray-Edwards, DVM, PhD, and Miguel Sena-Esteves.
The Katie & Allie Buryk Fund supports an annual Late Onset Tay-Sachs Think Tank retreat, coordinated by Dr. Gray-Edwards, which brings together leading rare disease researchers and clinicians from around the world. Since its inception in 2018, the retreat has played a pivotal role in accelerating clinical research, contributing to the launch of four key clinical trials: two gene therapy trials for children with GM2 gangliosidosis and GM1 gangliosidosis, and two small molecule drug trials for adults living with LOTS. The upcoming Think Tank meeting is scheduled for October 8 and 9 in Hilton Head Island, South Carolina.
Recognizing the substantial costs associated with developing gene therapies and gene editing treatments, the Buryk twins are actively seeking support through donations. Their campaign is directed toward advancing clinical trials specifically for patients with Late Onset Tay-Sachs and providing hope for families affected by this rare disorder.
Contributions can be made through the National Tay-Sachs & Allied Diseases Association’s Katie & Allie Buryk Fund based in Boston, Massachusetts. The twins emphasize their commitment to the cause and invite the public to join them in their fight for a cure.