A Philly-area woman’s medical mystery leads to a diagnosis shared by only 43 families worldwide
Barbara Small was a pediatric nurse at Children’s Hospital of Philadelphia, enjoying her work, her family and traveling with her husband. At the age of 59, she was involved in a cycling accident and required hip surgery soon after. A week after returning home, her vision became blurry which lead to a series of appointments and misdiagnosis over a four-year period.
In January 2018, almost four years after her first symptoms, her neurologist sent Small for genetic testing, which lead to the discovery that she carried the TREX 1 gene mutation and was diagnosed with RVCL.
The Philadelphia Inquirer published an article sharing Barbara’s story and sheds light on this extremely rare, inherited disease.