Comprehensive care for patients with VHL

Published on July 6th, 2023 by Leigh MacMillan.

Von Hippel-Lindau (VHL) syndrome is a rare genetic disorder that causes tumors and cysts and predisposes patients to developing kidney and pancreatic cancer.

“Although it’s rare to see VHL-associated cancer in children, it’s important to be monitoring them and to pick up cancer at the earliest possible stage,” says Debra Friedman, MD, MS, director of the Division of Pediatric Hematology and Oncology at Monroe Carell Jr. Children’s Hospital at Vanderbilt and holder of the E. Bronson Ingram Chair in Pediatric Oncology. “Children are at risk for a variety of nonmalignant tumors, which can have very serious consequences, particularly if they go undiagnosed.”

Benign tumors of the adrenal gland can cause life-threatening high blood pressure and stroke; tumors of the brain and spinal cord can impact function; and tumors in the eye can cause blindness, she notes.

Ysa Engel was a freshman in high school in the fall of 2019 when a routine eye exam revealed a tiny spot in her eye — possibly a birthmark, the eye doctor said. Further evaluation by a retina specialist and then multiple imaging studies showed that Ysa had several tumors in her eye, a brain stem tumor and pancreatic cysts. Genetic testing confirmed that Ysa has a genetic mutation that causes VHL; her parents and younger brother are not affected. About 20% of patients who have VHL have a de novo (spontaneous) gene mutation.

The Engel family lived in Las Vegas at the time, and Ysa saw the only pediatric neurosurgeon in the area, who told them that he didn’t know how to handle the brain stem tumor and wouldn’t operate.

“We were like, ‘Really? So, I have a brain tumor and there’s nobody in this city who can help me.’ That was hard to hear,” says Ysa, now 18.

The family connected with the VHL Alliance, an advocacy organization that promotes research, education and support for those with VHL, which helped them locate a treatment center in Scottsdale, Arizona. Ysa received care there, including the successful removal of her eye tumors, until the family moved to Canton, Georgia, in 2021, both to be part of a family business and to come to Monroe Carell for Ysa’s care.

Vanderbilt University Medical Center is the only VHL Alliance-designated Comprehensive Clinical Care Center in Tennessee, offering care to both pediatric and adult patients with VHL.

“Now I have a team of doctors who all talk to each other about my specific case and also work with all the other VHL patients,” Ysa says.

Ysa has been taking a targeted therapy for the brain stem tumor, but if she needs surgery, she feels confident in the care of pediatric neurosurgeon Michael Dewan, MD.

“He has operated on patients with VHL with the same type of tumor, and that gives me a lot of comfort,” she says.

Ysa’s family is working to promote awareness of VHL and be an example that “many people are fighting a silent battle that we know nothing about or cannot see,” says her mother, Amanda. Her father, William, is serving on the VHL Alliance board of directors and hopes to increase screening for VHL.

“Ysa’s condition was caught in a routine eye exam; this is something that ophthalmologists and optometrists should be aware of,” he says.

For her part, Ysa exercises every day, creates art, works with the family business, and graduated from high school with high honors, credits from dual enrollment and an academic scholarship for college.

“I have VHL; it doesn’t have me,” Ysa says. “It has taught me to see things through a different lens, to be more empathetic. I wake up and try to enjoy every day and appreciate the body that I have, even if it’s really good at making tumors.”