Barbara Small was an active 59-year-old nurse when she broke her hip in a bike accident. After surgery, she woke up one morning and couldn’t control her left side. She later received a diagnosis shared by only 43 families worldwide.
In 2014, Barbara Small was a pediatric nurse at Children’s Hospital of Philadelphia, enjoying her work, her family and traveling with her husband, Dave. She was an active 59-year-old until she broke her hip in a bike accident.
“I didn’t think they would ever find anything, that the tests would all be negative,” recalled Small, now 63. “I wasn’t optimistic about getting a diagnosis but I felt like I could overcome and manage whatever was wrong.” Small was diagnosed with RVCL, retinal vasculopathy with cerebral leukoencephalopathy, an extremely rare, inherited disease with no known cure.
“I thought they would never find anything, that I would just have these odd symptoms,” she recalled. “Luckily I had good doctors at Penn who did the research and were on this journey with me trying to figure it out. They gave me a lot of resources so I felt very well informed.” “In June of 2021, I had extreme fatigue, loss of appetite, problems with my right eye and funky walking,” said Davis, who lives in Plymouth, Minn.
She was especially anxious for her son, Declan, now 4 1/2. She does have the mutation, which means Declan might as well. Ward hopes that by the time her children grow up, there will be treatments or even a cure for RVCL, should they turn out to have the mutation. She has decided to wait on testing them so that they can make the choice together when they are older.
“You can sympathize with people who have cancer because you understand it,” Antonelli said. “My mom has a death sentence but people can’t appreciate how dangerous and unknown these rare diseases are. There are very few visible symptoms.”