In our effort to identify subtle differences, the mice were not only studied under normal walking conditions [akin to Bea’s walk to her playground], but also challenged by pulling a weighted sled, to anticipate what changes might affect Bea under more strenuous conditions. Award-winning Documentary Filmmaker, Kori Feener, visited our facility in Framingham, MA, to witness our efforts to identify features of gait that could aid in better understanding of the pathogenesis and treatment of neuromuscular changes that may develop in Bea and others with such rare genetic conditions. Kori’s film Bea will not only be an inspiring coming-of-age film about growing up with a rare disease and the importance of family advocacy, but also a testament to the fruits of crowd funding, academic collaboration, and 21st century neuroscience technology.
More information about Bea’s condition:
Father’s genetic quest pays off