April 11, 2022
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.
You can read more by clicking the following link.