Rare Disease
Rare disease, and in particular cerebroretinal vasculopathy (CRV), is acutely personal for my family, having lost two beloved family members to this devastating illness. The first member of the family to succumb to CRV was David Lending, Ellen’s father, who died at the young age of 52 in 1989. At the time, little was known about CRV, and we ourselves were clueless as to what was happening to him. It was as if all of a sudden his vision was failing, he was limping, and he seemed distant, which was very much unlike him. A little over ten years later, when Ellen was in her early 40s, she too began to exhibit inexplicable signs that something was off. She started to forget simple words and was having trouble with her vision. We saw experts around the country and were unable to figure out what was happening to Ellen until we came to the Washington University School of Medicine in St. Louis, where she was diagnosed with the genetic disorder that leads to the development of CRV. Dr. John P. Atkinson was part of the research team that originally identified the rare blood vessel disease in 1988 and then the genetic defect that is responsible for CRV in 2007.
September 8, 2020
