Von Hippel-Lindau disease is an inherited condition named after the two European scientists who discovered it. VHL puts people at higher risk of cancerous and benign tumors in multiple organs, including the kidneys, pancreas, spine, and brain.
Until last year, surgical removal of the tumors was the only treatment, but now, a newly approved therapy may help people with VHL avoid repeated, dangerous surgeries.
From learning to play stairway to heaven to planning her wedding, 33-year-old Ashley Colburn doesn’t step away from a challenge even though she’s been blind since she was 14.
“I’m in a category called ‘NIL,’ which means absolutely nothing, zero vision, no light perception at all,” said Colburn.
Colburn has the genetic condition Von Hippel-Lindau disease, or VHL, which caused non-cancerous tumors to form in her retinas. VHL also means a high risk of other tumors. Colburn started showing additional symptoms in 2017.
“I felt ribbons of pain pulsing in the back of my neck when I stood up too fast,” Colburn said.
More tumors were found, this time, in her brain.
“If not treated, is fatal,” said Othon Iliopoulos, MDMedical Oncologist at Mass. General Cancer Center.
Brain surgery was followed by recovery, and Colburn went on to life as a newlywed. Then, about 18 months ago, a sudden, familiar pounding in the back of her head.
Doctor Iliopoulos was about to schedule Colburn for another brain surgery when doctors learned a new drug designed to shrink VHL tumors was close to approval. It’s called belzutifan, also known as Welireg.
“We can treat, now, the patients and save them from having the craniotomy,” said Iliopoulos.
In August 2021, Colburn began taking three pills a day. Five weeks after she started, the drug shrunk her brain tumors by more than a third.
“It is clearly a game changer,” Iliopoulos said.
For Colburn and her husband, Patrick, the drug is a life-changer.
Iliopoulos says that all of the 19 VHL patients he treated with the drug had tumor shrinkage.
Colburn says she’ll remain on the drug as long as it continues to keep her tumors from growing.