At age 40, Paul Ringon from Fort Lauderdale experienced persistent vertigo after a trip to Switzerland. Initially attributing his symptoms to altitude sickness, he later discovered the cause was more serious: a brain tumor linked to von Hippel-Lindau (VHL) disease, a rare genetic disorder.
Ringon’s father had died in 2009 from complications related to VHL. The disease is caused by mutations in a tumor suppressor gene and can lead to both malignant and benign tumors. Children of affected parents have a 50% chance of inheriting the mutation.
Despite his family history, Ringon did not initially connect his symptoms to VHL. He said, “When my dad went through it in the ’80s, they didn’t know what it was.” His brother was diagnosed with VHL in 2013 after experiencing vision problems that led to the discovery of a tumor near his eye.
After persistent symptoms and encouragement from his mother, Ringon visited an ENT specialist who learned about his family history. He was then sent to Sylvester Comprehensive Cancer Center at UHealth – University of Miami Health System for emergency surgery. Ricardo Jorge Komotar, M.D., co-director of surgical neuro-oncology at Sylvester Brain Tumor Institute, removed a hemangioblastoma from Ringon’s brain.
Genetic testing is recommended for close relatives of patients with VHL mutations but is often delayed or avoided due to psychological resistance. Nicholas Borja, M.D., cancer geneticist at Sylvester and assistant professor at University of Miami Miller School of Medicine, stated: “We see many individuals with a family history of VHL who didn’t get tested early in life and then just assumed they weren’t affected with the condition.” He added, “Once we know someone has VHL, there is targeted screening we can offer to ensure cancer is detected early, when it is easiest to treat.”
Ringon underwent genetic testing earlier this year at Sylvester’s Genetic Predisposition Syndrome Clinic. The test confirmed he carried the VHL mutation and further screening found five malignant kidney tumors that were surgically removed.
He now participates in a clinical trial for casdatifan, a drug targeting kidney cancer caused by VHL mutations. Ruham Nasany, M.D., assistant professor in neurology at the Miller School and Ringon’s neurooncologist explained: “It works on the error created by the mutation.” Dr. Nasany said: “It’s a daily medication that treats his VHL-caused kidney cancer as any other chronic condition… He’s doing well.”
Dr. Nasany monitors Ringon every six weeks with new scans and reported stable results on his last visit. She commented: “We hope to continue to control this.” Reflecting on the case she noted: “The brain tumor forced him to get attention… It was still removable, and it put him in my clinic, and then we saw he had metastatic kidney cancer.” She concluded that regular surveillance and targeted therapies are preferred over surgery for managing VHL.
Ringon is now writing a book and developing a podcast about living with genetic disease. He encourages others not to ignore their family medical histories: “Whatever your family history is,” he says, “don’t ignore it.”
For information about eligibility for genetic testing at Sylvester’s Genetic Predisposition Syndrome Clinic call 305-689-7475.
